Incidental Mutation 'R0718:Ush2a'
ID 63668
Institutional Source Beutler Lab
Gene Symbol Ush2a
Ensembl Gene ENSMUSG00000026609
Gene Name usherin
Synonyms A930011D15Rik, LOC381317, A930037M10Rik, LOC269160, Usherin, MUSH2A
MMRRC Submission 038900-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.699) question?
Stock # R0718 (G1)
Quality Score 103
Status Validated
Chromosome 1
Chromosomal Location 188262023-188965041 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 188797830 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 3272 (C3272Y)
Ref Sequence ENSEMBL: ENSMUSP00000050454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060479]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000060479
AA Change: C3272Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050454
Gene: ENSMUSG00000026609
AA Change: C3272Y

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
Pfam:Laminin_G_3 128 283 6.5e-16 PFAM
LamNT 310 513 6.79e-9 SMART
EGF_Lam 515 569 1.58e-3 SMART
EGF_Lam 572 635 5.69e-10 SMART
EGF_Lam 638 688 4.38e-11 SMART
EGF_Lam 691 741 3.56e-11 SMART
EGF_Lam 744 789 7.93e-9 SMART
EGF_Lam 792 841 3.37e-12 SMART
EGF_Lam 844 894 2.01e-10 SMART
EGF_Lam 897 945 5.43e-16 SMART
EGF_Lam 948 996 7.88e-4 SMART
EGF_Lam 999 1047 2.96e-8 SMART
FN3 1051 1130 1e-1 SMART
FN3 1145 1224 2.06e-3 SMART
FN3 1239 1342 8.69e-11 SMART
FN3 1356 1447 5.32e-6 SMART
FN3 1461 1570 2.63e1 SMART
LamG 1531 1672 5.39e-19 SMART
LamG 1727 1862 2.33e-23 SMART
FN3 1861 1931 9.15e1 SMART
FN3 1945 2032 2.24e-4 SMART
FN3 2047 2120 1.13e0 SMART
FN3 2134 2218 3.4e-4 SMART
FN3 2232 2306 1.59e-4 SMART
FN3 2320 2412 1.12e-4 SMART
FN3 2423 2510 8.9e-8 SMART
FN3 2524 2600 1.95e-4 SMART
FN3 2612 2701 4.67e-2 SMART
FN3 2715 2792 1.17e-7 SMART
FN3 2809 2902 1.12e-4 SMART
FN3 2913 2997 5.36e-2 SMART
FN3 3011 3089 2.46e-1 SMART
FN3 3101 3477 2.85e1 SMART
FN3 3491 3568 4e-1 SMART
FN3 3582 3659 5.87e-8 SMART
FN3 3673 3750 1.75e-6 SMART
FN3 3764 3845 9.62e-4 SMART
FN3 3859 3943 2.41e-4 SMART
FN3 3954 4044 5.11e-8 SMART
FN3 4058 4133 1.06e0 SMART
FN3 4147 4241 7.87e-9 SMART
FN3 4255 4334 1.15e-1 SMART
FN3 4348 4422 6.39e-9 SMART
FN3 4435 4510 6.91e-5 SMART
FN3 4521 4610 2.28e-5 SMART
FN3 4626 4713 1.71e0 SMART
FN3 4724 4805 1.3e0 SMART
FN3 4817 4909 3.62e-8 SMART
transmembrane domain 5032 5054 N/A INTRINSIC
Meta Mutation Damage Score 0.6546 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 100% (96/96)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display progressive retinal photoreceptor degeneration along with significantly reduced a- and b-wave amplitudes, and a moderate but nonprogressive high-frequency hearing loss associated with widespread loss of outer hair cells in the basal turn of the cochlea. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 A T 3: 95,679,608 (GRCm38) Y811N possibly damaging Het
Adrm1 T C 2: 180,175,147 (GRCm38) probably benign Het
Alms1 T A 6: 85,621,821 (GRCm38) S1210T probably benign Het
Ampd3 C T 7: 110,777,808 (GRCm38) P11L probably damaging Het
Arhgap5 A G 12: 52,516,507 (GRCm38) E87G possibly damaging Het
Armc5 C T 7: 128,240,070 (GRCm38) probably benign Het
Asic2 C G 11: 80,971,456 (GRCm38) probably benign Het
Asph A G 4: 9,514,683 (GRCm38) probably benign Het
Bicd2 T A 13: 49,377,875 (GRCm38) probably null Het
Brip1 A G 11: 86,143,305 (GRCm38) L530P possibly damaging Het
Bsn G T 9: 108,111,360 (GRCm38) probably benign Het
Btnl4 T A 17: 34,469,634 (GRCm38) H390L probably benign Het
Ccdc70 A C 8: 21,973,308 (GRCm38) K38T probably damaging Het
Ccni G A 5: 93,202,316 (GRCm38) P35S probably benign Het
Cdh17 A G 4: 11,810,451 (GRCm38) D714G possibly damaging Het
Cenpf A G 1: 189,653,984 (GRCm38) L2033P probably damaging Het
Cfap69 A T 5: 5,621,924 (GRCm38) M328K probably damaging Het
Cmah T G 13: 24,417,210 (GRCm38) probably null Het
Cog6 T C 3: 53,010,629 (GRCm38) T163A probably benign Het
Cyp2j8 G A 4: 96,501,196 (GRCm38) S130F probably benign Het
Dgki A G 6: 37,012,896 (GRCm38) V636A probably damaging Het
Dmkn T A 7: 30,764,786 (GRCm38) probably benign Het
Dnah6 A G 6: 73,035,293 (GRCm38) I3679T possibly damaging Het
Dsp A T 13: 38,196,764 (GRCm38) Y2495F possibly damaging Het
Exosc4 C T 15: 76,329,489 (GRCm38) A171V probably benign Het
Fbxw24 A G 9: 109,623,509 (GRCm38) probably benign Het
Flvcr1 A T 1: 191,025,582 (GRCm38) L171Q probably damaging Het
Fsd1 G T 17: 55,996,445 (GRCm38) probably null Het
Gm7732 A G 17: 21,129,844 (GRCm38) noncoding transcript Het
H2-K2 A C 17: 33,975,623 (GRCm38) noncoding transcript Het
Hgf A G 5: 16,593,859 (GRCm38) N295S probably damaging Het
Ift88 T A 14: 57,517,413 (GRCm38) D811E probably benign Het
Igsf9b T A 9: 27,323,361 (GRCm38) probably null Het
Immt T A 6: 71,863,172 (GRCm38) V311E probably damaging Het
Ipo11 T A 13: 106,919,611 (GRCm38) N51I possibly damaging Het
Isy1 T C 6: 87,819,176 (GRCm38) K260E probably damaging Het
Jchain T G 5: 88,526,202 (GRCm38) I28L probably benign Het
Jmjd1c T A 10: 67,218,946 (GRCm38) probably null Het
Kif13b T C 14: 64,751,662 (GRCm38) probably benign Het
Klhdc7b T C 15: 89,388,169 (GRCm38) Y427H possibly damaging Het
Klhl8 T C 5: 103,876,293 (GRCm38) probably benign Het
Lrp2 C T 2: 69,510,948 (GRCm38) D963N probably damaging Het
Ltbp3 G T 19: 5,746,748 (GRCm38) probably benign Het
Ltf C A 9: 111,040,379 (GRCm38) Q41K probably benign Het
Med4 T A 14: 73,516,657 (GRCm38) I148N probably damaging Het
Mlh3 T G 12: 85,247,697 (GRCm38) S1242R possibly damaging Het
Mllt6 T C 11: 97,676,359 (GRCm38) probably benign Het
Mpdz A G 4: 81,292,473 (GRCm38) I1712T possibly damaging Het
Mrgprb4 T A 7: 48,198,553 (GRCm38) H209L probably benign Het
Nkapl A T 13: 21,468,440 (GRCm38) M1K probably null Het
Nmur2 T A 11: 56,029,498 (GRCm38) probably benign Het
Nsun2 T A 13: 69,543,697 (GRCm38) probably benign Het
Or10ag60 A G 2: 87,607,927 (GRCm38) I180V probably benign Het
Or8k35 G A 2: 86,594,081 (GRCm38) T249I probably benign Het
Ovgp1 T C 3: 105,974,830 (GRCm38) probably benign Het
Pcdh8 A G 14: 79,770,691 (GRCm38) V144A possibly damaging Het
Pcnx3 G A 19: 5,677,728 (GRCm38) probably benign Het
Pla2r1 C A 2: 60,479,530 (GRCm38) V570L possibly damaging Het
Plxnd1 C A 6: 115,966,638 (GRCm38) E1202D possibly damaging Het
Ppp1r37 T C 7: 19,532,254 (GRCm38) E529G probably benign Het
Prdm15 A G 16: 97,812,633 (GRCm38) F496L possibly damaging Het
Prlhr A T 19: 60,468,005 (GRCm38) V41D probably benign Het
Prlhr G T 19: 60,468,059 (GRCm38) S23* probably null Het
Prpf4 C T 4: 62,414,540 (GRCm38) probably benign Het
Psg26 T C 7: 18,478,287 (GRCm38) H381R probably benign Het
Psg26 C T 7: 18,475,235 (GRCm38) R416H probably benign Het
Ralgds T G 2: 28,549,116 (GRCm38) M717R probably benign Het
Rbms1 T C 2: 60,842,412 (GRCm38) N44D probably damaging Het
Rpa1 T C 11: 75,318,401 (GRCm38) probably benign Het
Rprd2 T C 3: 95,766,387 (GRCm38) N568S probably benign Het
Rptor A G 11: 119,872,376 (GRCm38) M929V probably benign Het
Rspo1 T A 4: 125,007,149 (GRCm38) C97S possibly damaging Het
Scin C T 12: 40,079,607 (GRCm38) G396S probably damaging Het
Scn9a T C 2: 66,547,112 (GRCm38) N409D probably damaging Het
Sf3b1 A G 1: 55,019,385 (GRCm38) I15T probably damaging Het
Sh3bp2 T C 5: 34,555,495 (GRCm38) V149A probably damaging Het
Slc39a12 T A 2: 14,407,426 (GRCm38) probably benign Het
Sp9 G T 2: 73,273,827 (GRCm38) A242S possibly damaging Het
Srr A G 11: 74,911,065 (GRCm38) V126A possibly damaging Het
Tatdn3 G T 1: 191,052,849 (GRCm38) probably benign Het
Tex14 G A 11: 87,499,613 (GRCm38) V379I probably benign Het
Tmed6 T C 8: 107,061,724 (GRCm38) N197S probably damaging Het
Ttbk2 G A 2: 120,748,575 (GRCm38) L689F probably benign Het
Ttbk2 A T 2: 120,745,160 (GRCm38) I1043N probably benign Het
Ttn A G 2: 76,810,696 (GRCm38) S5283P probably damaging Het
Ube3b C A 5: 114,402,555 (GRCm38) S441* probably null Het
Vac14 T A 8: 110,632,477 (GRCm38) I95K probably damaging Het
Vangl2 G A 1: 172,006,217 (GRCm38) A433V probably damaging Het
Vwa5b1 A T 4: 138,608,824 (GRCm38) V153D probably damaging Het
Zfhx3 T A 8: 108,955,650 (GRCm38) D3240E unknown Het
Zfp945 A G 17: 22,851,030 (GRCm38) C632R probably damaging Het
Zfyve26 G A 12: 79,265,802 (GRCm38) probably benign Het
Zyg11b A T 4: 108,242,076 (GRCm38) I606N possibly damaging Het
Other mutations in Ush2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Ush2a APN 1 188,864,678 (GRCm38) missense probably benign 0.00
IGL00391:Ush2a APN 1 188,916,061 (GRCm38) missense probably damaging 1.00
IGL00429:Ush2a APN 1 188,400,114 (GRCm38) nonsense probably null
IGL00484:Ush2a APN 1 188,782,513 (GRCm38) missense probably benign 0.00
IGL00519:Ush2a APN 1 188,444,668 (GRCm38) missense probably benign 0.03
IGL00567:Ush2a APN 1 188,964,917 (GRCm38) missense probably damaging 1.00
IGL00823:Ush2a APN 1 188,911,443 (GRCm38) missense possibly damaging 0.61
IGL00940:Ush2a APN 1 188,357,961 (GRCm38) nonsense probably null
IGL00951:Ush2a APN 1 188,263,465 (GRCm38) missense probably benign 0.33
IGL00956:Ush2a APN 1 188,753,522 (GRCm38) missense probably damaging 0.99
IGL01096:Ush2a APN 1 188,678,377 (GRCm38) missense probably damaging 1.00
IGL01108:Ush2a APN 1 188,862,825 (GRCm38) missense probably benign 0.00
IGL01315:Ush2a APN 1 188,633,614 (GRCm38) missense possibly damaging 0.51
IGL01318:Ush2a APN 1 188,814,353 (GRCm38) missense probably benign 0.00
IGL01324:Ush2a APN 1 188,848,992 (GRCm38) missense probably benign 0.38
IGL01326:Ush2a APN 1 188,263,321 (GRCm38) nonsense probably null
IGL01384:Ush2a APN 1 188,553,228 (GRCm38) missense possibly damaging 0.65
IGL01466:Ush2a APN 1 188,911,622 (GRCm38) missense probably benign 0.00
IGL01518:Ush2a APN 1 188,399,785 (GRCm38) missense probably benign 0.01
IGL01585:Ush2a APN 1 188,430,727 (GRCm38) missense probably damaging 1.00
IGL01595:Ush2a APN 1 188,654,724 (GRCm38) critical splice donor site probably null
IGL01657:Ush2a APN 1 188,826,461 (GRCm38) missense probably benign 0.03
IGL01797:Ush2a APN 1 188,263,509 (GRCm38) missense probably damaging 1.00
IGL01802:Ush2a APN 1 188,436,957 (GRCm38) missense probably damaging 0.99
IGL01836:Ush2a APN 1 188,759,863 (GRCm38) splice site probably benign
IGL01938:Ush2a APN 1 188,797,845 (GRCm38) missense probably damaging 1.00
IGL01976:Ush2a APN 1 188,911,241 (GRCm38) missense probably benign 0.04
IGL02023:Ush2a APN 1 188,733,514 (GRCm38) missense probably benign 0.03
IGL02126:Ush2a APN 1 188,263,391 (GRCm38) missense probably benign 0.01
IGL02133:Ush2a APN 1 188,443,343 (GRCm38) missense probably damaging 1.00
IGL02147:Ush2a APN 1 188,864,703 (GRCm38) missense probably benign
IGL02275:Ush2a APN 1 188,263,269 (GRCm38) missense possibly damaging 0.67
IGL02314:Ush2a APN 1 188,633,629 (GRCm38) missense probably benign 0.00
IGL02353:Ush2a APN 1 188,728,438 (GRCm38) missense probably benign 0.04
IGL02360:Ush2a APN 1 188,728,438 (GRCm38) missense probably benign 0.04
IGL02367:Ush2a APN 1 188,784,746 (GRCm38) missense probably benign
IGL02402:Ush2a APN 1 188,267,108 (GRCm38) missense probably benign 0.02
IGL02410:Ush2a APN 1 188,915,997 (GRCm38) missense probably damaging 1.00
IGL02490:Ush2a APN 1 188,810,364 (GRCm38) missense probably damaging 1.00
IGL02500:Ush2a APN 1 188,822,696 (GRCm38) missense probably damaging 1.00
IGL02511:Ush2a APN 1 188,743,687 (GRCm38) critical splice donor site probably null
IGL02517:Ush2a APN 1 188,915,998 (GRCm38) missense probably damaging 1.00
IGL02536:Ush2a APN 1 188,957,266 (GRCm38) critical splice acceptor site probably null
IGL02585:Ush2a APN 1 188,728,333 (GRCm38) missense probably benign 0.00
IGL02610:Ush2a APN 1 188,444,466 (GRCm38) missense probably damaging 0.98
IGL02677:Ush2a APN 1 188,734,685 (GRCm38) missense probably damaging 1.00
IGL02691:Ush2a APN 1 188,734,752 (GRCm38) missense probably damaging 1.00
IGL02740:Ush2a APN 1 188,648,388 (GRCm38) missense possibly damaging 0.68
IGL02744:Ush2a APN 1 188,358,717 (GRCm38) splice site probably null
IGL02749:Ush2a APN 1 188,946,958 (GRCm38) missense probably damaging 0.99
IGL02806:Ush2a APN 1 188,810,357 (GRCm38) nonsense probably null
IGL02870:Ush2a APN 1 188,678,358 (GRCm38) missense probably benign 0.42
IGL02894:Ush2a APN 1 188,451,846 (GRCm38) missense probably damaging 1.00
IGL02904:Ush2a APN 1 188,906,506 (GRCm38) missense probably benign 0.06
IGL03000:Ush2a APN 1 188,549,856 (GRCm38) missense possibly damaging 0.81
IGL03015:Ush2a APN 1 188,436,950 (GRCm38) missense probably benign 0.01
IGL03036:Ush2a APN 1 188,864,621 (GRCm38) missense possibly damaging 0.80
IGL03057:Ush2a APN 1 188,797,838 (GRCm38) missense probably damaging 1.00
IGL03230:Ush2a APN 1 188,466,193 (GRCm38) missense probably benign 0.09
IGL03278:Ush2a APN 1 188,849,116 (GRCm38) missense probably damaging 1.00
BB003:Ush2a UTSW 1 188,728,600 (GRCm38) missense probably benign
BB013:Ush2a UTSW 1 188,728,600 (GRCm38) missense probably benign
PIT4283001:Ush2a UTSW 1 188,436,867 (GRCm38) missense probably benign 0.01
R0003:Ush2a UTSW 1 188,578,491 (GRCm38) missense probably damaging 0.99
R0030:Ush2a UTSW 1 188,822,657 (GRCm38) missense possibly damaging 0.51
R0035:Ush2a UTSW 1 188,356,888 (GRCm38) missense probably benign
R0038:Ush2a UTSW 1 188,626,612 (GRCm38) missense probably benign 0.00
R0038:Ush2a UTSW 1 188,626,612 (GRCm38) missense probably benign 0.00
R0067:Ush2a UTSW 1 188,964,846 (GRCm38) missense probably damaging 0.99
R0067:Ush2a UTSW 1 188,964,846 (GRCm38) missense probably damaging 0.99
R0103:Ush2a UTSW 1 188,319,070 (GRCm38) missense possibly damaging 0.81
R0103:Ush2a UTSW 1 188,319,070 (GRCm38) missense possibly damaging 0.81
R0122:Ush2a UTSW 1 188,948,455 (GRCm38) missense possibly damaging 0.65
R0206:Ush2a UTSW 1 188,531,761 (GRCm38) missense probably damaging 0.99
R0208:Ush2a UTSW 1 188,531,761 (GRCm38) missense probably damaging 0.99
R0230:Ush2a UTSW 1 188,850,104 (GRCm38) missense probably damaging 1.00
R0269:Ush2a UTSW 1 188,810,176 (GRCm38) missense probably benign 0.33
R0319:Ush2a UTSW 1 188,948,374 (GRCm38) splice site probably benign
R0358:Ush2a UTSW 1 188,537,780 (GRCm38) missense possibly damaging 0.83
R0379:Ush2a UTSW 1 188,451,819 (GRCm38) missense probably damaging 1.00
R0427:Ush2a UTSW 1 188,400,281 (GRCm38) missense probably damaging 1.00
R0437:Ush2a UTSW 1 188,911,031 (GRCm38) missense probably benign 0.00
R0462:Ush2a UTSW 1 188,910,939 (GRCm38) missense probably benign
R0510:Ush2a UTSW 1 188,734,663 (GRCm38) splice site probably benign
R0531:Ush2a UTSW 1 188,443,181 (GRCm38) missense probably benign 0.18
R0541:Ush2a UTSW 1 188,714,466 (GRCm38) splice site probably benign
R0549:Ush2a UTSW 1 188,946,953 (GRCm38) missense probably damaging 0.99
R0562:Ush2a UTSW 1 188,356,847 (GRCm38) missense probably damaging 1.00
R0636:Ush2a UTSW 1 188,822,738 (GRCm38) missense probably benign
R0662:Ush2a UTSW 1 188,351,093 (GRCm38) missense probably benign 0.26
R0685:Ush2a UTSW 1 188,400,278 (GRCm38) missense probably damaging 1.00
R0725:Ush2a UTSW 1 188,951,525 (GRCm38) missense probably damaging 1.00
R0735:Ush2a UTSW 1 188,864,693 (GRCm38) missense probably benign 0.04
R0744:Ush2a UTSW 1 188,814,406 (GRCm38) splice site probably benign
R0765:Ush2a UTSW 1 188,948,574 (GRCm38) missense possibly damaging 0.67
R0862:Ush2a UTSW 1 188,542,818 (GRCm38) nonsense probably null
R1067:Ush2a UTSW 1 188,550,207 (GRCm38) missense probably benign 0.35
R1072:Ush2a UTSW 1 188,728,717 (GRCm38) missense possibly damaging 0.91
R1099:Ush2a UTSW 1 188,864,639 (GRCm38) missense probably damaging 1.00
R1099:Ush2a UTSW 1 188,648,348 (GRCm38) missense probably benign 0.06
R1104:Ush2a UTSW 1 188,916,256 (GRCm38) missense probably benign
R1106:Ush2a UTSW 1 188,910,983 (GRCm38) missense possibly damaging 0.82
R1124:Ush2a UTSW 1 188,753,536 (GRCm38) missense probably damaging 0.99
R1168:Ush2a UTSW 1 188,678,411 (GRCm38) missense probably benign 0.01
R1199:Ush2a UTSW 1 188,759,795 (GRCm38) missense probably benign 0.00
R1215:Ush2a UTSW 1 188,957,282 (GRCm38) missense possibly damaging 0.66
R1307:Ush2a UTSW 1 188,451,840 (GRCm38) missense probably damaging 1.00
R1307:Ush2a UTSW 1 188,357,967 (GRCm38) missense probably damaging 1.00
R1311:Ush2a UTSW 1 188,947,145 (GRCm38) missense possibly damaging 0.86
R1388:Ush2a UTSW 1 188,523,318 (GRCm38) splice site probably benign
R1416:Ush2a UTSW 1 188,436,883 (GRCm38) missense probably damaging 1.00
R1424:Ush2a UTSW 1 188,542,878 (GRCm38) critical splice donor site probably null
R1459:Ush2a UTSW 1 188,862,851 (GRCm38) missense probably benign 0.05
R1470:Ush2a UTSW 1 188,400,206 (GRCm38) missense probably benign 0.00
R1470:Ush2a UTSW 1 188,400,206 (GRCm38) missense probably benign 0.00
R1477:Ush2a UTSW 1 188,849,076 (GRCm38) missense probably benign 0.05
R1484:Ush2a UTSW 1 188,810,337 (GRCm38) nonsense probably null
R1490:Ush2a UTSW 1 188,359,841 (GRCm38) missense probably benign 0.24
R1510:Ush2a UTSW 1 188,648,304 (GRCm38) missense probably damaging 1.00
R1522:Ush2a UTSW 1 188,797,814 (GRCm38) missense possibly damaging 0.94
R1606:Ush2a UTSW 1 188,759,766 (GRCm38) missense probably benign 0.17
R1618:Ush2a UTSW 1 188,814,224 (GRCm38) missense probably benign 0.29
R1636:Ush2a UTSW 1 188,466,176 (GRCm38) missense possibly damaging 0.53
R1646:Ush2a UTSW 1 188,415,821 (GRCm38) missense probably damaging 1.00
R1660:Ush2a UTSW 1 188,916,064 (GRCm38) missense probably benign
R1676:Ush2a UTSW 1 188,728,585 (GRCm38) missense probably damaging 1.00
R1704:Ush2a UTSW 1 188,821,796 (GRCm38) missense probably damaging 1.00
R1705:Ush2a UTSW 1 188,911,541 (GRCm38) missense probably benign 0.40
R1705:Ush2a UTSW 1 188,874,869 (GRCm38) missense probably damaging 1.00
R1760:Ush2a UTSW 1 188,910,983 (GRCm38) missense possibly damaging 0.82
R1776:Ush2a UTSW 1 188,728,203 (GRCm38) missense possibly damaging 0.83
R1782:Ush2a UTSW 1 188,911,185 (GRCm38) missense probably benign 0.06
R1794:Ush2a UTSW 1 188,862,809 (GRCm38) missense probably benign 0.00
R1796:Ush2a UTSW 1 188,910,827 (GRCm38) missense probably benign 0.11
R1804:Ush2a UTSW 1 188,633,729 (GRCm38) critical splice donor site probably null
R1835:Ush2a UTSW 1 188,451,818 (GRCm38) missense probably benign 0.13
R1871:Ush2a UTSW 1 188,826,468 (GRCm38) missense probably benign 0.02
R1876:Ush2a UTSW 1 188,678,289 (GRCm38) missense possibly damaging 0.51
R1887:Ush2a UTSW 1 188,399,980 (GRCm38) missense probably benign 0.05
R1896:Ush2a UTSW 1 188,550,009 (GRCm38) missense probably benign 0.00
R1907:Ush2a UTSW 1 188,715,064 (GRCm38) missense probably benign 0.01
R1940:Ush2a UTSW 1 188,951,561 (GRCm38) missense probably null 0.89
R1950:Ush2a UTSW 1 188,755,185 (GRCm38) missense probably damaging 1.00
R1991:Ush2a UTSW 1 188,578,532 (GRCm38) splice site probably benign
R2043:Ush2a UTSW 1 188,916,256 (GRCm38) missense probably benign 0.00
R2046:Ush2a UTSW 1 188,356,927 (GRCm38) missense probably benign 0.01
R2059:Ush2a UTSW 1 188,381,549 (GRCm38) critical splice donor site probably null
R2239:Ush2a UTSW 1 188,576,214 (GRCm38) missense probably benign
R2365:Ush2a UTSW 1 188,378,991 (GRCm38) missense possibly damaging 0.68
R2395:Ush2a UTSW 1 188,947,040 (GRCm38) missense probably damaging 1.00
R2425:Ush2a UTSW 1 188,537,804 (GRCm38) missense possibly damaging 0.82
R2519:Ush2a UTSW 1 188,267,107 (GRCm38) missense probably benign
R3039:Ush2a UTSW 1 188,911,547 (GRCm38) missense probably damaging 0.99
R3434:Ush2a UTSW 1 188,733,758 (GRCm38) missense probably damaging 1.00
R3711:Ush2a UTSW 1 188,810,292 (GRCm38) missense probably benign 0.05
R3712:Ush2a UTSW 1 188,810,292 (GRCm38) missense probably benign 0.05
R3732:Ush2a UTSW 1 188,944,760 (GRCm38) missense probably benign 0.16
R3746:Ush2a UTSW 1 188,810,292 (GRCm38) missense probably benign 0.05
R3747:Ush2a UTSW 1 188,810,292 (GRCm38) missense probably benign 0.05
R3883:Ush2a UTSW 1 188,263,382 (GRCm38) missense probably benign
R3911:Ush2a UTSW 1 188,399,954 (GRCm38) missense probably benign 0.05
R3934:Ush2a UTSW 1 188,263,511 (GRCm38) critical splice donor site probably null
R3946:Ush2a UTSW 1 188,728,504 (GRCm38) missense probably benign 0.01
R3974:Ush2a UTSW 1 188,381,501 (GRCm38) missense probably benign 0.06
R4158:Ush2a UTSW 1 188,728,710 (GRCm38) missense probably damaging 1.00
R4159:Ush2a UTSW 1 188,728,710 (GRCm38) missense probably damaging 1.00
R4161:Ush2a UTSW 1 188,728,710 (GRCm38) missense probably damaging 1.00
R4162:Ush2a UTSW 1 188,743,680 (GRCm38) missense probably benign 0.00
R4255:Ush2a UTSW 1 188,759,843 (GRCm38) nonsense probably null
R4280:Ush2a UTSW 1 188,578,461 (GRCm38) missense probably benign 0.16
R4387:Ush2a UTSW 1 188,443,431 (GRCm38) missense probably benign 0.00
R4416:Ush2a UTSW 1 188,356,874 (GRCm38) missense probably damaging 0.97
R4494:Ush2a UTSW 1 188,553,276 (GRCm38) missense possibly damaging 0.50
R4505:Ush2a UTSW 1 188,728,596 (GRCm38) missense possibly damaging 0.92
R4522:Ush2a UTSW 1 188,864,625 (GRCm38) missense probably damaging 1.00
R4584:Ush2a UTSW 1 188,451,798 (GRCm38) missense probably benign 0.00
R4599:Ush2a UTSW 1 188,911,647 (GRCm38) missense probably benign 0.01
R4605:Ush2a UTSW 1 188,910,801 (GRCm38) missense probably damaging 1.00
R4632:Ush2a UTSW 1 188,395,874 (GRCm38) missense possibly damaging 0.82
R4688:Ush2a UTSW 1 188,399,941 (GRCm38) missense probably benign 0.01
R4751:Ush2a UTSW 1 188,850,087 (GRCm38) missense probably damaging 0.98
R4770:Ush2a UTSW 1 188,549,879 (GRCm38) missense probably benign 0.25
R4771:Ush2a UTSW 1 188,797,769 (GRCm38) missense possibly damaging 0.92
R4798:Ush2a UTSW 1 188,743,545 (GRCm38) missense probably damaging 1.00
R4821:Ush2a UTSW 1 188,753,651 (GRCm38) missense probably benign 0.32
R4857:Ush2a UTSW 1 188,537,720 (GRCm38) missense probably benign 0.01
R4860:Ush2a UTSW 1 188,553,275 (GRCm38) missense probably benign 0.07
R4860:Ush2a UTSW 1 188,553,275 (GRCm38) missense probably benign 0.07
R4898:Ush2a UTSW 1 188,626,608 (GRCm38) missense probably benign 0.37
R4993:Ush2a UTSW 1 188,910,720 (GRCm38) missense probably benign 0.03
R5035:Ush2a UTSW 1 188,910,808 (GRCm38) missense probably damaging 1.00
R5061:Ush2a UTSW 1 188,957,274 (GRCm38) missense probably benign 0.03
R5150:Ush2a UTSW 1 188,451,870 (GRCm38) missense possibly damaging 0.95
R5205:Ush2a UTSW 1 188,874,936 (GRCm38) missense probably benign 0.21
R5212:Ush2a UTSW 1 188,444,705 (GRCm38) critical splice donor site probably null
R5252:Ush2a UTSW 1 188,821,717 (GRCm38) missense possibly damaging 0.83
R5260:Ush2a UTSW 1 188,947,079 (GRCm38) missense possibly damaging 0.95
R5304:Ush2a UTSW 1 188,356,798 (GRCm38) missense probably damaging 0.99
R5323:Ush2a UTSW 1 188,821,677 (GRCm38) critical splice acceptor site probably null
R5330:Ush2a UTSW 1 188,728,381 (GRCm38) missense probably benign 0.00
R5331:Ush2a UTSW 1 188,728,381 (GRCm38) missense probably benign 0.00
R5332:Ush2a UTSW 1 188,351,079 (GRCm38) missense probably damaging 1.00
R5371:Ush2a UTSW 1 188,443,070 (GRCm38) missense probably benign 0.00
R5374:Ush2a UTSW 1 188,755,206 (GRCm38) missense probably benign
R5377:Ush2a UTSW 1 188,912,123 (GRCm38) missense probably benign 0.00
R5525:Ush2a UTSW 1 188,753,606 (GRCm38) missense probably benign 0.01
R5558:Ush2a UTSW 1 188,797,827 (GRCm38) missense possibly damaging 0.47
R5562:Ush2a UTSW 1 188,576,217 (GRCm38) missense probably damaging 1.00
R5595:Ush2a UTSW 1 188,906,498 (GRCm38) missense possibly damaging 0.95
R5620:Ush2a UTSW 1 188,759,823 (GRCm38) missense possibly damaging 0.82
R5714:Ush2a UTSW 1 188,400,257 (GRCm38) missense probably benign 0.00
R5743:Ush2a UTSW 1 188,436,962 (GRCm38) missense probably benign 0.01
R5779:Ush2a UTSW 1 188,443,510 (GRCm38) critical splice donor site probably null
R5795:Ush2a UTSW 1 188,443,397 (GRCm38) missense probably benign 0.34
R5897:Ush2a UTSW 1 188,821,738 (GRCm38) missense probably damaging 1.00
R5918:Ush2a UTSW 1 188,356,814 (GRCm38) missense probably benign 0.26
R6000:Ush2a UTSW 1 188,267,026 (GRCm38) nonsense probably null
R6014:Ush2a UTSW 1 188,850,040 (GRCm38) missense probably damaging 0.98
R6017:Ush2a UTSW 1 188,957,514 (GRCm38) critical splice donor site probably null
R6020:Ush2a UTSW 1 188,728,096 (GRCm38) splice site probably null
R6039:Ush2a UTSW 1 188,319,020 (GRCm38) missense possibly damaging 0.76
R6039:Ush2a UTSW 1 188,319,020 (GRCm38) missense possibly damaging 0.76
R6050:Ush2a UTSW 1 188,957,324 (GRCm38) missense probably benign 0.06
R6083:Ush2a UTSW 1 188,267,023 (GRCm38) missense probably damaging 1.00
R6091:Ush2a UTSW 1 188,399,803 (GRCm38) missense probably damaging 1.00
R6120:Ush2a UTSW 1 188,358,603 (GRCm38) missense probably benign 0.04
R6135:Ush2a UTSW 1 188,912,106 (GRCm38) missense possibly damaging 0.68
R6141:Ush2a UTSW 1 188,357,963 (GRCm38) missense possibly damaging 0.71
R6157:Ush2a UTSW 1 188,728,270 (GRCm38) missense probably benign 0.00
R6180:Ush2a UTSW 1 188,399,871 (GRCm38) nonsense probably null
R6191:Ush2a UTSW 1 188,263,101 (GRCm38) nonsense probably null
R6217:Ush2a UTSW 1 188,743,454 (GRCm38) splice site probably null
R6263:Ush2a UTSW 1 188,358,642 (GRCm38) missense probably damaging 1.00
R6294:Ush2a UTSW 1 188,536,370 (GRCm38) missense possibly damaging 0.49
R6320:Ush2a UTSW 1 188,356,846 (GRCm38) missense probably benign 0.01
R6321:Ush2a UTSW 1 188,849,046 (GRCm38) nonsense probably null
R6347:Ush2a UTSW 1 188,910,887 (GRCm38) missense probably benign
R6382:Ush2a UTSW 1 188,814,302 (GRCm38) missense probably benign 0.01
R6408:Ush2a UTSW 1 188,267,032 (GRCm38) nonsense probably null
R6418:Ush2a UTSW 1 188,628,566 (GRCm38) missense probably damaging 1.00
R6500:Ush2a UTSW 1 188,841,527 (GRCm38) missense probably benign 0.00
R6504:Ush2a UTSW 1 188,911,247 (GRCm38) missense probably benign 0.00
R6534:Ush2a UTSW 1 188,451,802 (GRCm38) nonsense probably null
R6594:Ush2a UTSW 1 188,910,798 (GRCm38) missense possibly damaging 0.93
R6612:Ush2a UTSW 1 188,911,397 (GRCm38) missense possibly damaging 0.91
R6645:Ush2a UTSW 1 188,523,331 (GRCm38) missense probably damaging 0.99
R6658:Ush2a UTSW 1 188,814,359 (GRCm38) missense possibly damaging 0.95
R6726:Ush2a UTSW 1 188,753,684 (GRCm38) missense possibly damaging 0.85
R6755:Ush2a UTSW 1 188,443,219 (GRCm38) missense possibly damaging 0.95
R6782:Ush2a UTSW 1 188,356,834 (GRCm38) missense probably benign
R6817:Ush2a UTSW 1 188,862,864 (GRCm38) missense probably benign 0.03
R6834:Ush2a UTSW 1 188,356,792 (GRCm38) missense probably damaging 1.00
R6851:Ush2a UTSW 1 188,533,205 (GRCm38) missense probably benign 0.06
R6853:Ush2a UTSW 1 188,911,237 (GRCm38) nonsense probably null
R6867:Ush2a UTSW 1 188,910,973 (GRCm38) missense probably damaging 1.00
R6889:Ush2a UTSW 1 188,797,871 (GRCm38) missense probably damaging 1.00
R6931:Ush2a UTSW 1 188,728,383 (GRCm38) missense probably benign 0.01
R6953:Ush2a UTSW 1 188,263,145 (GRCm38) missense possibly damaging 0.94
R6966:Ush2a UTSW 1 188,576,244 (GRCm38) missense probably damaging 1.00
R7109:Ush2a UTSW 1 188,381,484 (GRCm38) missense probably benign 0.19
R7153:Ush2a UTSW 1 188,728,484 (GRCm38) missense possibly damaging 0.93
R7176:Ush2a UTSW 1 188,537,728 (GRCm38) missense probably benign 0.00
R7182:Ush2a UTSW 1 188,753,543 (GRCm38) missense probably benign 0.01
R7201:Ush2a UTSW 1 188,874,754 (GRCm38) missense probably benign
R7223:Ush2a UTSW 1 188,810,217 (GRCm38) missense probably benign 0.09
R7231:Ush2a UTSW 1 188,759,763 (GRCm38) missense possibly damaging 0.49
R7240:Ush2a UTSW 1 188,911,661 (GRCm38) missense possibly damaging 0.83
R7263:Ush2a UTSW 1 188,443,329 (GRCm38) missense possibly damaging 0.94
R7329:Ush2a UTSW 1 188,553,198 (GRCm38) missense probably damaging 0.97
R7343:Ush2a UTSW 1 188,415,746 (GRCm38) missense probably benign 0.00
R7352:Ush2a UTSW 1 188,466,124 (GRCm38) missense probably benign 0.04
R7384:Ush2a UTSW 1 188,400,163 (GRCm38) missense probably damaging 0.99
R7391:Ush2a UTSW 1 188,962,008 (GRCm38) small deletion probably benign
R7394:Ush2a UTSW 1 188,911,416 (GRCm38) missense possibly damaging 0.83
R7403:Ush2a UTSW 1 188,633,727 (GRCm38) missense probably damaging 1.00
R7408:Ush2a UTSW 1 188,733,529 (GRCm38) missense probably benign 0.00
R7453:Ush2a UTSW 1 188,553,111 (GRCm38) missense probably damaging 1.00
R7496:Ush2a UTSW 1 188,351,087 (GRCm38) missense possibly damaging 0.50
R7552:Ush2a UTSW 1 188,267,044 (GRCm38) missense possibly damaging 0.65
R7556:Ush2a UTSW 1 188,957,493 (GRCm38) missense probably benign 0.31
R7575:Ush2a UTSW 1 188,822,688 (GRCm38) missense possibly damaging 0.90
R7578:Ush2a UTSW 1 188,549,913 (GRCm38) missense probably damaging 1.00
R7584:Ush2a UTSW 1 188,728,109 (GRCm38) critical splice acceptor site probably null
R7589:Ush2a UTSW 1 188,542,849 (GRCm38) missense probably benign 0.00
R7602:Ush2a UTSW 1 188,648,409 (GRCm38) missense probably damaging 1.00
R7670:Ush2a UTSW 1 188,784,708 (GRCm38) missense possibly damaging 0.78
R7743:Ush2a UTSW 1 188,810,179 (GRCm38) missense probably benign 0.05
R7753:Ush2a UTSW 1 188,443,406 (GRCm38) missense probably benign 0.28
R7767:Ush2a UTSW 1 188,553,260 (GRCm38) missense probably benign 0.01
R7784:Ush2a UTSW 1 188,444,592 (GRCm38) missense possibly damaging 0.55
R7831:Ush2a UTSW 1 188,759,841 (GRCm38) missense probably damaging 0.98
R7834:Ush2a UTSW 1 188,733,440 (GRCm38) nonsense probably null
R7847:Ush2a UTSW 1 188,430,808 (GRCm38) missense probably damaging 1.00
R7926:Ush2a UTSW 1 188,728,600 (GRCm38) missense probably benign
R7969:Ush2a UTSW 1 188,826,371 (GRCm38) missense probably benign 0.02
R7978:Ush2a UTSW 1 188,399,938 (GRCm38) missense probably benign 0.00
R7990:Ush2a UTSW 1 188,542,799 (GRCm38) missense probably benign 0.00
R8001:Ush2a UTSW 1 188,911,064 (GRCm38) missense probably damaging 0.98
R8039:Ush2a UTSW 1 188,957,373 (GRCm38) missense probably damaging 1.00
R8077:Ush2a UTSW 1 188,542,828 (GRCm38) missense probably benign 0.01
R8165:Ush2a UTSW 1 188,451,755 (GRCm38) missense possibly damaging 0.70
R8208:Ush2a UTSW 1 188,874,793 (GRCm38) missense possibly damaging 0.95
R8220:Ush2a UTSW 1 188,728,666 (GRCm38) missense probably damaging 1.00
R8270:Ush2a UTSW 1 188,444,641 (GRCm38) missense probably benign 0.06
R8316:Ush2a UTSW 1 188,446,702 (GRCm38) missense probably benign 0.01
R8347:Ush2a UTSW 1 188,947,084 (GRCm38) missense probably benign 0.02
R8360:Ush2a UTSW 1 188,466,271 (GRCm38) missense probably benign 0.01
R8362:Ush2a UTSW 1 188,957,453 (GRCm38) missense probably damaging 0.96
R8386:Ush2a UTSW 1 188,728,206 (GRCm38) missense possibly damaging 0.80
R8401:Ush2a UTSW 1 188,542,865 (GRCm38) missense probably benign 0.10
R8439:Ush2a UTSW 1 188,850,057 (GRCm38) missense probably damaging 1.00
R8465:Ush2a UTSW 1 188,415,678 (GRCm38) missense probably damaging 1.00
R8478:Ush2a UTSW 1 188,443,232 (GRCm38) missense possibly damaging 0.83
R8540:Ush2a UTSW 1 188,542,661 (GRCm38) missense probably benign 0.00
R8684:Ush2a UTSW 1 188,911,023 (GRCm38) missense possibly damaging 0.45
R8685:Ush2a UTSW 1 188,466,204 (GRCm38) missense probably damaging 1.00
R8699:Ush2a UTSW 1 188,911,377 (GRCm38) missense probably damaging 1.00
R8720:Ush2a UTSW 1 188,358,518 (GRCm38) missense probably benign 0.05
R8754:Ush2a UTSW 1 188,848,965 (GRCm38) nonsense probably null
R8756:Ush2a UTSW 1 188,911,944 (GRCm38) missense possibly damaging 0.91
R8788:Ush2a UTSW 1 188,743,619 (GRCm38) nonsense probably null
R8803:Ush2a UTSW 1 188,944,801 (GRCm38) missense probably benign
R8817:Ush2a UTSW 1 188,263,034 (GRCm38) start codon destroyed probably benign 0.00
R8837:Ush2a UTSW 1 188,753,650 (GRCm38) missense probably benign
R8880:Ush2a UTSW 1 188,728,536 (GRCm38) missense probably benign 0.11
R8902:Ush2a UTSW 1 188,443,084 (GRCm38) missense probably damaging 0.98
R8918:Ush2a UTSW 1 188,537,820 (GRCm38) missense possibly damaging 0.85
R8940:Ush2a UTSW 1 188,400,308 (GRCm38) missense probably benign 0.02
R8968:Ush2a UTSW 1 188,395,759 (GRCm38) missense probably damaging 1.00
R8995:Ush2a UTSW 1 188,444,653 (GRCm38) missense probably damaging 0.98
R9011:Ush2a UTSW 1 188,906,479 (GRCm38) missense probably damaging 0.99
R9037:Ush2a UTSW 1 188,263,290 (GRCm38) missense possibly damaging 0.51
R9063:Ush2a UTSW 1 188,263,260 (GRCm38) missense probably benign 0.00
R9089:Ush2a UTSW 1 188,755,177 (GRCm38) nonsense probably null
R9096:Ush2a UTSW 1 188,466,136 (GRCm38) missense probably benign 0.00
R9118:Ush2a UTSW 1 188,654,642 (GRCm38) missense probably damaging 0.98
R9174:Ush2a UTSW 1 188,728,219 (GRCm38) missense probably damaging 0.99
R9210:Ush2a UTSW 1 188,784,669 (GRCm38) missense probably null 0.01
R9242:Ush2a UTSW 1 188,633,590 (GRCm38) missense probably damaging 1.00
R9321:Ush2a UTSW 1 188,356,951 (GRCm38) missense probably damaging 0.97
R9338:Ush2a UTSW 1 188,576,292 (GRCm38) critical splice donor site probably null
R9357:Ush2a UTSW 1 188,874,950 (GRCm38) missense probably benign 0.01
R9358:Ush2a UTSW 1 188,874,950 (GRCm38) missense probably benign 0.01
R9406:Ush2a UTSW 1 188,263,449 (GRCm38) missense probably benign 0.00
R9407:Ush2a UTSW 1 188,911,848 (GRCm38) missense probably damaging 1.00
R9428:Ush2a UTSW 1 188,443,119 (GRCm38) missense probably damaging 1.00
R9456:Ush2a UTSW 1 188,826,392 (GRCm38) missense probably benign 0.00
R9507:Ush2a UTSW 1 188,864,740 (GRCm38) nonsense probably null
R9509:Ush2a UTSW 1 188,916,243 (GRCm38) missense probably damaging 1.00
R9512:Ush2a UTSW 1 188,910,963 (GRCm38) missense probably damaging 0.99
R9564:Ush2a UTSW 1 188,536,354 (GRCm38) missense possibly damaging 0.90
R9612:Ush2a UTSW 1 188,359,866 (GRCm38) nonsense probably null
R9670:Ush2a UTSW 1 188,628,571 (GRCm38) missense probably benign 0.03
R9684:Ush2a UTSW 1 188,399,881 (GRCm38) missense possibly damaging 0.67
R9798:Ush2a UTSW 1 188,911,805 (GRCm38) missense possibly damaging 0.80
RF017:Ush2a UTSW 1 188,263,469 (GRCm38) missense probably damaging 1.00
U24488:Ush2a UTSW 1 188,430,766 (GRCm38) missense probably damaging 0.99
X0011:Ush2a UTSW 1 188,318,969 (GRCm38) missense probably benign 0.00
X0024:Ush2a UTSW 1 188,400,282 (GRCm38) missense probably damaging 1.00
X0026:Ush2a UTSW 1 188,319,025 (GRCm38) missense possibly damaging 0.94
X0062:Ush2a UTSW 1 188,549,854 (GRCm38) missense probably damaging 1.00
Y4340:Ush2a UTSW 1 188,743,629 (GRCm38) missense possibly damaging 0.87
Y4341:Ush2a UTSW 1 188,743,629 (GRCm38) missense possibly damaging 0.87
Z1088:Ush2a UTSW 1 188,947,004 (GRCm38) missense probably benign 0.26
Z1088:Ush2a UTSW 1 188,911,983 (GRCm38) missense probably benign
Z1176:Ush2a UTSW 1 188,356,841 (GRCm38) missense probably damaging 1.00
Z1177:Ush2a UTSW 1 188,912,210 (GRCm38) missense possibly damaging 0.77
Z1177:Ush2a UTSW 1 188,733,544 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGCACAAAGTCATGTTGGTCAGACATT -3'
(R):5'- GGGCAAATCCCTCCTTCTCCCTA -3'

Sequencing Primer
(F):5'- AGGGATGGCACTAACACTTG -3'
(R):5'- AGCCATCACCTCTCACATTCTG -3'
Posted On 2013-07-30