Mutagenetix > Incidental Mutation

Incidental Mutation 'R5779:Ush2a'

446860

Institutional Source

Beutler Lab

Gene Symbol

Ush2a

Ensembl Gene

ENSMUSG00000026609

Gene Name

usherin

Synonyms

MUSH2A, LOC269160, LOC381317, Ushrn, Ush2a, A930037M10Rik, A930011D15Rik

MMRRC Submission

043377-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.501) question?

Stock #

R5779 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

187995035-188697694 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 188175707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000050454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060479]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000060479

SMART Domains

Protein: ENSMUSP00000050454
Gene: ENSMUSG00000026609

Domain	Start	End	E-Value	Type
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124358

Meta Mutation Damage Score

0.9487

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

88% (52/59)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,075,496 (GRCm39)	M1332V	probably benign	Het
Acsbg3	A	T	17: 57,188,061 (GRCm39)	N190Y	probably benign	Het
Afg3l2	T	C	18: 67,573,513 (GRCm39)	K132R	probably null	Het
Antkmt	A	G	17: 26,009,631 (GRCm39)	V194A	probably benign	Het
Arap3	T	C	18: 38,117,418 (GRCm39)	D886G	probably damaging	Het
B3gntl1	G	T	11: 121,542,502 (GRCm39)		probably null	Het
Cdk12	T	A	11: 98,109,900 (GRCm39)	S640R	probably benign	Het
Ceacam12	C	A	7: 17,803,079 (GRCm39)	P162T	probably benign	Het
Chrna5	C	A	9: 54,905,388 (GRCm39)	H67N	probably benign	Het
Copb1	T	A	7: 113,818,807 (GRCm39)	D837V	probably damaging	Het
Dcaf5	C	T	12: 80,385,606 (GRCm39)	R840H	probably benign	Het
Ect2l	T	A	10: 18,039,186 (GRCm39)	Q324L	probably benign	Het
Eef1e1	T	C	13: 38,830,249 (GRCm39)	N141S	probably damaging	Het
Eif2ak4	A	C	2: 118,243,444 (GRCm39)	N208T	possibly damaging	Het
Ext1	A	G	15: 53,207,949 (GRCm39)	Y271H	probably damaging	Het
Fbxo5	G	A	10: 5,750,303 (GRCm39)	R323C	possibly damaging	Het
Fpr-rs3	C	A	17: 20,844,488 (GRCm39)	A218S	possibly damaging	Het
Gm20499	G	A	5: 114,955,082 (GRCm39)		probably benign	Het
Gm57859	A	G	11: 113,578,818 (GRCm39)	D71G	probably benign	Het
Gucy1b2	C	A	14: 62,651,750 (GRCm39)	L400F	possibly damaging	Het
Hgd	T	A	16: 37,413,733 (GRCm39)	L24H	probably benign	Het
Hmx3	C	A	7: 131,146,057 (GRCm39)	S255*	probably null	Het
Ifrd1	A	T	12: 40,253,369 (GRCm39)	F448I	probably damaging	Het
Igfn1	T	A	1: 135,894,578 (GRCm39)	E1996V	probably benign	Het
Itpr1	G	A	6: 108,329,104 (GRCm39)	G173R	probably damaging	Het
Kbtbd8	T	C	6: 95,095,515 (GRCm39)	S26P	probably benign	Het
Kctd17	A	T	15: 78,321,333 (GRCm39)		probably benign	Het
Matr3	T	C	18: 35,717,575 (GRCm39)	S258P	possibly damaging	Het
Mpp4	G	A	1: 59,190,825 (GRCm39)	A90V	probably benign	Het
Mrpl20	G	A	4: 155,891,378 (GRCm39)	R34Q	probably damaging	Het
Neb	A	T	2: 52,135,313 (GRCm39)	S3266T	probably damaging	Het
Nipal3	A	G	4: 135,179,650 (GRCm39)		probably benign	Het
Npas2	A	T	1: 39,326,652 (GRCm39)	T46S	possibly damaging	Het
Nsd3	G	T	8: 26,172,685 (GRCm39)	E815*	probably null	Het
Nup98	C	A	7: 101,801,568 (GRCm39)	V786L	probably benign	Het
Or4k2	A	T	14: 50,424,203 (GRCm39)	M157K	possibly damaging	Het
Pcdhb3	T	C	18: 37,434,520 (GRCm39)	V162A	probably benign	Het
Pcgf2	G	A	11: 97,581,117 (GRCm39)	P58L	probably damaging	Het
Penk	A	G	4: 4,134,318 (GRCm39)	F110L	probably damaging	Het
Relch	T	G	1: 105,615,072 (GRCm39)	N246K	probably damaging	Het
Scfd1	A	G	12: 51,478,312 (GRCm39)	N508S	probably benign	Het
Scn2a	T	C	2: 65,594,827 (GRCm39)	V1892A	probably benign	Het
Sema6a	G	A	18: 47,381,893 (GRCm39)	R885C	probably damaging	Het
Sik2	T	C	9: 50,807,145 (GRCm39)	H755R	probably benign	Het
Slc36a3	A	T	11: 55,026,094 (GRCm39)	Y241*	probably null	Het
Smg5	T	C	3: 88,258,925 (GRCm39)		probably benign	Het
Spag9	A	G	11: 94,005,079 (GRCm39)	T1049A	probably benign	Het
Tas2r103	T	C	6: 133,013,908 (GRCm39)	M53V	probably benign	Het
Tpr	C	T	1: 150,299,292 (GRCm39)	A1090V	probably damaging	Het
Traf5	T	A	1: 191,729,633 (GRCm39)	R473W	probably damaging	Het
Vit	A	G	17: 78,853,855 (GRCm39)	T34A	probably benign	Het

Other mutations in Ush2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Ush2a	APN	1	188,596,875 (GRCm39)	missense	probably benign	0.00
IGL00391:Ush2a	APN	1	188,648,258 (GRCm39)	missense	probably damaging	1.00
IGL00429:Ush2a	APN	1	188,132,311 (GRCm39)	nonsense	probably null
IGL00484:Ush2a	APN	1	188,514,710 (GRCm39)	missense	probably benign	0.00
IGL00519:Ush2a	APN	1	188,176,865 (GRCm39)	missense	probably benign	0.03
IGL00567:Ush2a	APN	1	188,697,114 (GRCm39)	missense	probably damaging	1.00
IGL00823:Ush2a	APN	1	188,643,640 (GRCm39)	missense	possibly damaging	0.61
IGL00940:Ush2a	APN	1	188,090,158 (GRCm39)	nonsense	probably null
IGL00951:Ush2a	APN	1	187,995,662 (GRCm39)	missense	probably benign	0.33
IGL00956:Ush2a	APN	1	188,485,719 (GRCm39)	missense	probably damaging	0.99
IGL01096:Ush2a	APN	1	188,410,574 (GRCm39)	missense	probably damaging	1.00
IGL01108:Ush2a	APN	1	188,595,022 (GRCm39)	missense	probably benign	0.00
IGL01315:Ush2a	APN	1	188,365,811 (GRCm39)	missense	possibly damaging	0.51
IGL01318:Ush2a	APN	1	188,546,550 (GRCm39)	missense	probably benign	0.00
IGL01324:Ush2a	APN	1	188,581,189 (GRCm39)	missense	probably benign	0.38
IGL01326:Ush2a	APN	1	187,995,518 (GRCm39)	nonsense	probably null
IGL01384:Ush2a	APN	1	188,285,425 (GRCm39)	missense	possibly damaging	0.65
IGL01466:Ush2a	APN	1	188,643,819 (GRCm39)	missense	probably benign	0.00
IGL01518:Ush2a	APN	1	188,131,982 (GRCm39)	missense	probably benign	0.01
IGL01585:Ush2a	APN	1	188,162,924 (GRCm39)	missense	probably damaging	1.00
IGL01595:Ush2a	APN	1	188,386,921 (GRCm39)	critical splice donor site	probably null
IGL01657:Ush2a	APN	1	188,558,658 (GRCm39)	missense	probably benign	0.03
IGL01797:Ush2a	APN	1	187,995,706 (GRCm39)	missense	probably damaging	1.00
IGL01802:Ush2a	APN	1	188,169,154 (GRCm39)	missense	probably damaging	0.99
IGL01836:Ush2a	APN	1	188,492,060 (GRCm39)	splice site	probably benign
IGL01938:Ush2a	APN	1	188,530,042 (GRCm39)	missense	probably damaging	1.00
IGL01976:Ush2a	APN	1	188,643,438 (GRCm39)	missense	probably benign	0.04
IGL02023:Ush2a	APN	1	188,465,711 (GRCm39)	missense	probably benign	0.03
IGL02126:Ush2a	APN	1	187,995,588 (GRCm39)	missense	probably benign	0.01
IGL02133:Ush2a	APN	1	188,175,540 (GRCm39)	missense	probably damaging	1.00
IGL02147:Ush2a	APN	1	188,596,900 (GRCm39)	missense	probably benign
IGL02275:Ush2a	APN	1	187,995,466 (GRCm39)	missense	possibly damaging	0.67
IGL02314:Ush2a	APN	1	188,365,826 (GRCm39)	missense	probably benign	0.00
IGL02353:Ush2a	APN	1	188,460,635 (GRCm39)	missense	probably benign	0.04
IGL02360:Ush2a	APN	1	188,460,635 (GRCm39)	missense	probably benign	0.04
IGL02367:Ush2a	APN	1	188,516,943 (GRCm39)	missense	probably benign
IGL02402:Ush2a	APN	1	187,999,305 (GRCm39)	missense	probably benign	0.02
IGL02410:Ush2a	APN	1	188,648,194 (GRCm39)	missense	probably damaging	1.00
IGL02490:Ush2a	APN	1	188,542,561 (GRCm39)	missense	probably damaging	1.00
IGL02500:Ush2a	APN	1	188,554,893 (GRCm39)	missense	probably damaging	1.00
IGL02511:Ush2a	APN	1	188,475,884 (GRCm39)	critical splice donor site	probably null
IGL02517:Ush2a	APN	1	188,648,195 (GRCm39)	missense	probably damaging	1.00
IGL02536:Ush2a	APN	1	188,689,463 (GRCm39)	critical splice acceptor site	probably null
IGL02585:Ush2a	APN	1	188,460,530 (GRCm39)	missense	probably benign	0.00
IGL02610:Ush2a	APN	1	188,176,663 (GRCm39)	missense	probably damaging	0.98
IGL02677:Ush2a	APN	1	188,466,882 (GRCm39)	missense	probably damaging	1.00
IGL02691:Ush2a	APN	1	188,466,949 (GRCm39)	missense	probably damaging	1.00
IGL02740:Ush2a	APN	1	188,380,585 (GRCm39)	missense	possibly damaging	0.68
IGL02744:Ush2a	APN	1	188,090,914 (GRCm39)	splice site	probably null
IGL02749:Ush2a	APN	1	188,679,155 (GRCm39)	missense	probably damaging	0.99
IGL02806:Ush2a	APN	1	188,542,554 (GRCm39)	nonsense	probably null
IGL02870:Ush2a	APN	1	188,410,555 (GRCm39)	missense	probably benign	0.42
IGL02894:Ush2a	APN	1	188,184,043 (GRCm39)	missense	probably damaging	1.00
IGL02904:Ush2a	APN	1	188,638,703 (GRCm39)	missense	probably benign	0.06
IGL03000:Ush2a	APN	1	188,282,053 (GRCm39)	missense	possibly damaging	0.81
IGL03015:Ush2a	APN	1	188,169,147 (GRCm39)	missense	probably benign	0.01
IGL03036:Ush2a	APN	1	188,596,818 (GRCm39)	missense	possibly damaging	0.80
IGL03057:Ush2a	APN	1	188,530,035 (GRCm39)	missense	probably damaging	1.00
IGL03230:Ush2a	APN	1	188,198,390 (GRCm39)	missense	probably benign	0.09
IGL03278:Ush2a	APN	1	188,581,313 (GRCm39)	missense	probably damaging	1.00
BB003:Ush2a	UTSW	1	188,460,797 (GRCm39)	missense	probably benign
BB013:Ush2a	UTSW	1	188,460,797 (GRCm39)	missense	probably benign
PIT4283001:Ush2a	UTSW	1	188,169,064 (GRCm39)	missense	probably benign	0.01
R0003:Ush2a	UTSW	1	188,310,688 (GRCm39)	missense	probably damaging	0.99
R0030:Ush2a	UTSW	1	188,554,854 (GRCm39)	missense	possibly damaging	0.51
R0035:Ush2a	UTSW	1	188,089,085 (GRCm39)	missense	probably benign
R0038:Ush2a	UTSW	1	188,358,809 (GRCm39)	missense	probably benign	0.00
R0038:Ush2a	UTSW	1	188,358,809 (GRCm39)	missense	probably benign	0.00
R0067:Ush2a	UTSW	1	188,697,043 (GRCm39)	missense	probably damaging	0.99
R0067:Ush2a	UTSW	1	188,697,043 (GRCm39)	missense	probably damaging	0.99
R0103:Ush2a	UTSW	1	188,051,267 (GRCm39)	missense	possibly damaging	0.81
R0103:Ush2a	UTSW	1	188,051,267 (GRCm39)	missense	possibly damaging	0.81
R0122:Ush2a	UTSW	1	188,680,652 (GRCm39)	missense	possibly damaging	0.65
R0206:Ush2a	UTSW	1	188,263,958 (GRCm39)	missense	probably damaging	0.99
R0208:Ush2a	UTSW	1	188,263,958 (GRCm39)	missense	probably damaging	0.99
R0230:Ush2a	UTSW	1	188,582,301 (GRCm39)	missense	probably damaging	1.00
R0269:Ush2a	UTSW	1	188,542,373 (GRCm39)	missense	probably benign	0.33
R0319:Ush2a	UTSW	1	188,680,571 (GRCm39)	splice site	probably benign
R0358:Ush2a	UTSW	1	188,269,977 (GRCm39)	missense	possibly damaging	0.83
R0379:Ush2a	UTSW	1	188,184,016 (GRCm39)	missense	probably damaging	1.00
R0427:Ush2a	UTSW	1	188,132,478 (GRCm39)	missense	probably damaging	1.00
R0437:Ush2a	UTSW	1	188,643,228 (GRCm39)	missense	probably benign	0.00
R0462:Ush2a	UTSW	1	188,643,136 (GRCm39)	missense	probably benign
R0510:Ush2a	UTSW	1	188,466,860 (GRCm39)	splice site	probably benign
R0531:Ush2a	UTSW	1	188,175,378 (GRCm39)	missense	probably benign	0.18
R0541:Ush2a	UTSW	1	188,446,663 (GRCm39)	splice site	probably benign
R0549:Ush2a	UTSW	1	188,679,150 (GRCm39)	missense	probably damaging	0.99
R0562:Ush2a	UTSW	1	188,089,044 (GRCm39)	missense	probably damaging	1.00
R0636:Ush2a	UTSW	1	188,554,935 (GRCm39)	missense	probably benign
R0662:Ush2a	UTSW	1	188,083,290 (GRCm39)	missense	probably benign	0.26
R0685:Ush2a	UTSW	1	188,132,475 (GRCm39)	missense	probably damaging	1.00
R0718:Ush2a	UTSW	1	188,530,027 (GRCm39)	missense	probably damaging	1.00
R0725:Ush2a	UTSW	1	188,683,722 (GRCm39)	missense	probably damaging	1.00
R0735:Ush2a	UTSW	1	188,596,890 (GRCm39)	missense	probably benign	0.04
R0744:Ush2a	UTSW	1	188,546,603 (GRCm39)	splice site	probably benign
R0765:Ush2a	UTSW	1	188,680,771 (GRCm39)	missense	possibly damaging	0.67
R0862:Ush2a	UTSW	1	188,275,015 (GRCm39)	nonsense	probably null
R1067:Ush2a	UTSW	1	188,282,404 (GRCm39)	missense	probably benign	0.35
R1072:Ush2a	UTSW	1	188,460,914 (GRCm39)	missense	possibly damaging	0.91
R1099:Ush2a	UTSW	1	188,596,836 (GRCm39)	missense	probably damaging	1.00
R1099:Ush2a	UTSW	1	188,380,545 (GRCm39)	missense	probably benign	0.06
R1104:Ush2a	UTSW	1	188,648,453 (GRCm39)	missense	probably benign
R1106:Ush2a	UTSW	1	188,643,180 (GRCm39)	missense	possibly damaging	0.82
R1124:Ush2a	UTSW	1	188,485,733 (GRCm39)	missense	probably damaging	0.99
R1168:Ush2a	UTSW	1	188,410,608 (GRCm39)	missense	probably benign	0.01
R1199:Ush2a	UTSW	1	188,491,992 (GRCm39)	missense	probably benign	0.00
R1215:Ush2a	UTSW	1	188,689,479 (GRCm39)	missense	possibly damaging	0.66
R1307:Ush2a	UTSW	1	188,184,037 (GRCm39)	missense	probably damaging	1.00
R1307:Ush2a	UTSW	1	188,090,164 (GRCm39)	missense	probably damaging	1.00
R1311:Ush2a	UTSW	1	188,679,342 (GRCm39)	missense	possibly damaging	0.86
R1388:Ush2a	UTSW	1	188,255,515 (GRCm39)	splice site	probably benign
R1416:Ush2a	UTSW	1	188,169,080 (GRCm39)	missense	probably damaging	1.00
R1424:Ush2a	UTSW	1	188,275,075 (GRCm39)	critical splice donor site	probably null
R1459:Ush2a	UTSW	1	188,595,048 (GRCm39)	missense	probably benign	0.05
R1470:Ush2a	UTSW	1	188,132,403 (GRCm39)	missense	probably benign	0.00
R1470:Ush2a	UTSW	1	188,132,403 (GRCm39)	missense	probably benign	0.00
R1477:Ush2a	UTSW	1	188,581,273 (GRCm39)	missense	probably benign	0.05
R1484:Ush2a	UTSW	1	188,542,534 (GRCm39)	nonsense	probably null
R1490:Ush2a	UTSW	1	188,092,038 (GRCm39)	missense	probably benign	0.24
R1510:Ush2a	UTSW	1	188,380,501 (GRCm39)	missense	probably damaging	1.00
R1522:Ush2a	UTSW	1	188,530,011 (GRCm39)	missense	possibly damaging	0.94
R1606:Ush2a	UTSW	1	188,491,963 (GRCm39)	missense	probably benign	0.17
R1618:Ush2a	UTSW	1	188,546,421 (GRCm39)	missense	probably benign	0.29
R1636:Ush2a	UTSW	1	188,198,373 (GRCm39)	missense	possibly damaging	0.53
R1646:Ush2a	UTSW	1	188,148,018 (GRCm39)	missense	probably damaging	1.00
R1660:Ush2a	UTSW	1	188,648,261 (GRCm39)	missense	probably benign
R1676:Ush2a	UTSW	1	188,460,782 (GRCm39)	missense	probably damaging	1.00
R1704:Ush2a	UTSW	1	188,553,993 (GRCm39)	missense	probably damaging	1.00
R1705:Ush2a	UTSW	1	188,643,738 (GRCm39)	missense	probably benign	0.40
R1705:Ush2a	UTSW	1	188,607,066 (GRCm39)	missense	probably damaging	1.00
R1760:Ush2a	UTSW	1	188,643,180 (GRCm39)	missense	possibly damaging	0.82
R1776:Ush2a	UTSW	1	188,460,400 (GRCm39)	missense	possibly damaging	0.83
R1782:Ush2a	UTSW	1	188,643,382 (GRCm39)	missense	probably benign	0.06
R1794:Ush2a	UTSW	1	188,595,006 (GRCm39)	missense	probably benign	0.00
R1796:Ush2a	UTSW	1	188,643,024 (GRCm39)	missense	probably benign	0.11
R1804:Ush2a	UTSW	1	188,365,926 (GRCm39)	critical splice donor site	probably null
R1835:Ush2a	UTSW	1	188,184,015 (GRCm39)	missense	probably benign	0.13
R1871:Ush2a	UTSW	1	188,558,665 (GRCm39)	missense	probably benign	0.02
R1876:Ush2a	UTSW	1	188,410,486 (GRCm39)	missense	possibly damaging	0.51
R1887:Ush2a	UTSW	1	188,132,177 (GRCm39)	missense	probably benign	0.05
R1896:Ush2a	UTSW	1	188,282,206 (GRCm39)	missense	probably benign	0.00
R1907:Ush2a	UTSW	1	188,447,261 (GRCm39)	missense	probably benign	0.01
R1940:Ush2a	UTSW	1	188,683,758 (GRCm39)	missense	probably null	0.89
R1950:Ush2a	UTSW	1	188,487,382 (GRCm39)	missense	probably damaging	1.00
R1991:Ush2a	UTSW	1	188,310,729 (GRCm39)	splice site	probably benign
R2043:Ush2a	UTSW	1	188,648,453 (GRCm39)	missense	probably benign	0.00
R2046:Ush2a	UTSW	1	188,089,124 (GRCm39)	missense	probably benign	0.01
R2059:Ush2a	UTSW	1	188,113,746 (GRCm39)	critical splice donor site	probably null
R2239:Ush2a	UTSW	1	188,308,411 (GRCm39)	missense	probably benign
R2365:Ush2a	UTSW	1	188,111,188 (GRCm39)	missense	possibly damaging	0.68
R2395:Ush2a	UTSW	1	188,679,237 (GRCm39)	missense	probably damaging	1.00
R2425:Ush2a	UTSW	1	188,270,001 (GRCm39)	missense	possibly damaging	0.82
R2519:Ush2a	UTSW	1	187,999,304 (GRCm39)	missense	probably benign
R3039:Ush2a	UTSW	1	188,643,744 (GRCm39)	missense	probably damaging	0.99
R3434:Ush2a	UTSW	1	188,465,955 (GRCm39)	missense	probably damaging	1.00
R3711:Ush2a	UTSW	1	188,542,489 (GRCm39)	missense	probably benign	0.05
R3712:Ush2a	UTSW	1	188,542,489 (GRCm39)	missense	probably benign	0.05
R3732:Ush2a	UTSW	1	188,676,957 (GRCm39)	missense	probably benign	0.16
R3746:Ush2a	UTSW	1	188,542,489 (GRCm39)	missense	probably benign	0.05
R3747:Ush2a	UTSW	1	188,542,489 (GRCm39)	missense	probably benign	0.05
R3883:Ush2a	UTSW	1	187,995,579 (GRCm39)	missense	probably benign
R3911:Ush2a	UTSW	1	188,132,151 (GRCm39)	missense	probably benign	0.05
R3934:Ush2a	UTSW	1	187,995,708 (GRCm39)	critical splice donor site	probably null
R3946:Ush2a	UTSW	1	188,460,701 (GRCm39)	missense	probably benign	0.01
R3974:Ush2a	UTSW	1	188,113,698 (GRCm39)	missense	probably benign	0.06
R4158:Ush2a	UTSW	1	188,460,907 (GRCm39)	missense	probably damaging	1.00
R4159:Ush2a	UTSW	1	188,460,907 (GRCm39)	missense	probably damaging	1.00
R4161:Ush2a	UTSW	1	188,460,907 (GRCm39)	missense	probably damaging	1.00
R4162:Ush2a	UTSW	1	188,475,877 (GRCm39)	missense	probably benign	0.00
R4255:Ush2a	UTSW	1	188,492,040 (GRCm39)	nonsense	probably null
R4280:Ush2a	UTSW	1	188,310,658 (GRCm39)	missense	probably benign	0.16
R4387:Ush2a	UTSW	1	188,175,628 (GRCm39)	missense	probably benign	0.00
R4416:Ush2a	UTSW	1	188,089,071 (GRCm39)	missense	probably damaging	0.97
R4494:Ush2a	UTSW	1	188,285,473 (GRCm39)	missense	possibly damaging	0.50
R4505:Ush2a	UTSW	1	188,460,793 (GRCm39)	missense	possibly damaging	0.92
R4522:Ush2a	UTSW	1	188,596,822 (GRCm39)	missense	probably damaging	1.00
R4584:Ush2a	UTSW	1	188,183,995 (GRCm39)	missense	probably benign	0.00
R4599:Ush2a	UTSW	1	188,643,844 (GRCm39)	missense	probably benign	0.01
R4605:Ush2a	UTSW	1	188,642,998 (GRCm39)	missense	probably damaging	1.00
R4632:Ush2a	UTSW	1	188,128,071 (GRCm39)	missense	possibly damaging	0.82
R4688:Ush2a	UTSW	1	188,132,138 (GRCm39)	missense	probably benign	0.01
R4751:Ush2a	UTSW	1	188,582,284 (GRCm39)	missense	probably damaging	0.98
R4770:Ush2a	UTSW	1	188,282,076 (GRCm39)	missense	probably benign	0.25
R4771:Ush2a	UTSW	1	188,529,966 (GRCm39)	missense	possibly damaging	0.92
R4798:Ush2a	UTSW	1	188,475,742 (GRCm39)	missense	probably damaging	1.00
R4821:Ush2a	UTSW	1	188,485,848 (GRCm39)	missense	probably benign	0.32
R4857:Ush2a	UTSW	1	188,269,917 (GRCm39)	missense	probably benign	0.01
R4860:Ush2a	UTSW	1	188,285,472 (GRCm39)	missense	probably benign	0.07
R4860:Ush2a	UTSW	1	188,285,472 (GRCm39)	missense	probably benign	0.07
R4898:Ush2a	UTSW	1	188,358,805 (GRCm39)	missense	probably benign	0.37
R4993:Ush2a	UTSW	1	188,642,917 (GRCm39)	missense	probably benign	0.03
R5035:Ush2a	UTSW	1	188,643,005 (GRCm39)	missense	probably damaging	1.00
R5061:Ush2a	UTSW	1	188,689,471 (GRCm39)	missense	probably benign	0.03
R5150:Ush2a	UTSW	1	188,184,067 (GRCm39)	missense	possibly damaging	0.95
R5205:Ush2a	UTSW	1	188,607,133 (GRCm39)	missense	probably benign	0.21
R5212:Ush2a	UTSW	1	188,176,902 (GRCm39)	critical splice donor site	probably null
R5252:Ush2a	UTSW	1	188,553,914 (GRCm39)	missense	possibly damaging	0.83
R5260:Ush2a	UTSW	1	188,679,276 (GRCm39)	missense	possibly damaging	0.95
R5304:Ush2a	UTSW	1	188,088,995 (GRCm39)	missense	probably damaging	0.99
R5323:Ush2a	UTSW	1	188,553,874 (GRCm39)	critical splice acceptor site	probably null
R5330:Ush2a	UTSW	1	188,460,578 (GRCm39)	missense	probably benign	0.00
R5331:Ush2a	UTSW	1	188,460,578 (GRCm39)	missense	probably benign	0.00
R5332:Ush2a	UTSW	1	188,083,276 (GRCm39)	missense	probably damaging	1.00
R5371:Ush2a	UTSW	1	188,175,267 (GRCm39)	missense	probably benign	0.00
R5374:Ush2a	UTSW	1	188,487,403 (GRCm39)	missense	probably benign
R5377:Ush2a	UTSW	1	188,644,320 (GRCm39)	missense	probably benign	0.00
R5525:Ush2a	UTSW	1	188,485,803 (GRCm39)	missense	probably benign	0.01
R5558:Ush2a	UTSW	1	188,530,024 (GRCm39)	missense	possibly damaging	0.47
R5562:Ush2a	UTSW	1	188,308,414 (GRCm39)	missense	probably damaging	1.00
R5595:Ush2a	UTSW	1	188,638,695 (GRCm39)	missense	possibly damaging	0.95
R5620:Ush2a	UTSW	1	188,492,020 (GRCm39)	missense	possibly damaging	0.82
R5714:Ush2a	UTSW	1	188,132,454 (GRCm39)	missense	probably benign	0.00
R5743:Ush2a	UTSW	1	188,169,159 (GRCm39)	missense	probably benign	0.01
R5795:Ush2a	UTSW	1	188,175,594 (GRCm39)	missense	probably benign	0.34
R5897:Ush2a	UTSW	1	188,553,935 (GRCm39)	missense	probably damaging	1.00
R5918:Ush2a	UTSW	1	188,089,011 (GRCm39)	missense	probably benign	0.26
R6000:Ush2a	UTSW	1	187,999,223 (GRCm39)	nonsense	probably null
R6014:Ush2a	UTSW	1	188,582,237 (GRCm39)	missense	probably damaging	0.98
R6017:Ush2a	UTSW	1	188,689,711 (GRCm39)	critical splice donor site	probably null
R6020:Ush2a	UTSW	1	188,460,293 (GRCm39)	splice site	probably null
R6039:Ush2a	UTSW	1	188,051,217 (GRCm39)	missense	possibly damaging	0.76
R6039:Ush2a	UTSW	1	188,051,217 (GRCm39)	missense	possibly damaging	0.76
R6050:Ush2a	UTSW	1	188,689,521 (GRCm39)	missense	probably benign	0.06
R6083:Ush2a	UTSW	1	187,999,220 (GRCm39)	missense	probably damaging	1.00
R6091:Ush2a	UTSW	1	188,132,000 (GRCm39)	missense	probably damaging	1.00
R6120:Ush2a	UTSW	1	188,090,800 (GRCm39)	missense	probably benign	0.04
R6135:Ush2a	UTSW	1	188,644,303 (GRCm39)	missense	possibly damaging	0.68
R6141:Ush2a	UTSW	1	188,090,160 (GRCm39)	missense	possibly damaging	0.71
R6157:Ush2a	UTSW	1	188,460,467 (GRCm39)	missense	probably benign	0.00
R6180:Ush2a	UTSW	1	188,132,068 (GRCm39)	nonsense	probably null
R6191:Ush2a	UTSW	1	187,995,298 (GRCm39)	nonsense	probably null
R6217:Ush2a	UTSW	1	188,475,651 (GRCm39)	splice site	probably null
R6263:Ush2a	UTSW	1	188,090,839 (GRCm39)	missense	probably damaging	1.00
R6294:Ush2a	UTSW	1	188,268,567 (GRCm39)	missense	possibly damaging	0.49
R6320:Ush2a	UTSW	1	188,089,043 (GRCm39)	missense	probably benign	0.01
R6321:Ush2a	UTSW	1	188,581,243 (GRCm39)	nonsense	probably null
R6347:Ush2a	UTSW	1	188,643,084 (GRCm39)	missense	probably benign
R6382:Ush2a	UTSW	1	188,546,499 (GRCm39)	missense	probably benign	0.01
R6408:Ush2a	UTSW	1	187,999,229 (GRCm39)	nonsense	probably null
R6418:Ush2a	UTSW	1	188,360,763 (GRCm39)	missense	probably damaging	1.00
R6500:Ush2a	UTSW	1	188,573,724 (GRCm39)	missense	probably benign	0.00
R6504:Ush2a	UTSW	1	188,643,444 (GRCm39)	missense	probably benign	0.00
R6534:Ush2a	UTSW	1	188,183,999 (GRCm39)	nonsense	probably null
R6594:Ush2a	UTSW	1	188,642,995 (GRCm39)	missense	possibly damaging	0.93
R6612:Ush2a	UTSW	1	188,643,594 (GRCm39)	missense	possibly damaging	0.91
R6645:Ush2a	UTSW	1	188,255,528 (GRCm39)	missense	probably damaging	0.99
R6658:Ush2a	UTSW	1	188,546,556 (GRCm39)	missense	possibly damaging	0.95
R6726:Ush2a	UTSW	1	188,485,881 (GRCm39)	missense	possibly damaging	0.85
R6755:Ush2a	UTSW	1	188,175,416 (GRCm39)	missense	possibly damaging	0.95
R6782:Ush2a	UTSW	1	188,089,031 (GRCm39)	missense	probably benign
R6817:Ush2a	UTSW	1	188,595,061 (GRCm39)	missense	probably benign	0.03
R6834:Ush2a	UTSW	1	188,088,989 (GRCm39)	missense	probably damaging	1.00
R6851:Ush2a	UTSW	1	188,265,402 (GRCm39)	missense	probably benign	0.06
R6853:Ush2a	UTSW	1	188,643,434 (GRCm39)	nonsense	probably null
R6867:Ush2a	UTSW	1	188,643,170 (GRCm39)	missense	probably damaging	1.00
R6889:Ush2a	UTSW	1	188,530,068 (GRCm39)	missense	probably damaging	1.00
R6931:Ush2a	UTSW	1	188,460,580 (GRCm39)	missense	probably benign	0.01
R6953:Ush2a	UTSW	1	187,995,342 (GRCm39)	missense	possibly damaging	0.94
R6966:Ush2a	UTSW	1	188,308,441 (GRCm39)	missense	probably damaging	1.00
R7109:Ush2a	UTSW	1	188,113,681 (GRCm39)	missense	probably benign	0.19
R7153:Ush2a	UTSW	1	188,460,681 (GRCm39)	missense	possibly damaging	0.93
R7176:Ush2a	UTSW	1	188,269,925 (GRCm39)	missense	probably benign	0.00
R7182:Ush2a	UTSW	1	188,485,740 (GRCm39)	missense	probably benign	0.01
R7201:Ush2a	UTSW	1	188,606,951 (GRCm39)	missense	probably benign
R7223:Ush2a	UTSW	1	188,542,414 (GRCm39)	missense	probably benign	0.09
R7231:Ush2a	UTSW	1	188,491,960 (GRCm39)	missense	possibly damaging	0.49
R7240:Ush2a	UTSW	1	188,643,858 (GRCm39)	missense	possibly damaging	0.83
R7263:Ush2a	UTSW	1	188,175,526 (GRCm39)	missense	possibly damaging	0.94
R7329:Ush2a	UTSW	1	188,285,395 (GRCm39)	missense	probably damaging	0.97
R7343:Ush2a	UTSW	1	188,147,943 (GRCm39)	missense	probably benign	0.00
R7352:Ush2a	UTSW	1	188,198,321 (GRCm39)	missense	probably benign	0.04
R7384:Ush2a	UTSW	1	188,132,360 (GRCm39)	missense	probably damaging	0.99
R7391:Ush2a	UTSW	1	188,694,205 (GRCm39)	small deletion	probably benign
R7394:Ush2a	UTSW	1	188,643,613 (GRCm39)	missense	possibly damaging	0.83
R7403:Ush2a	UTSW	1	188,365,924 (GRCm39)	missense	probably damaging	1.00
R7408:Ush2a	UTSW	1	188,465,726 (GRCm39)	missense	probably benign	0.00
R7453:Ush2a	UTSW	1	188,285,308 (GRCm39)	missense	probably damaging	1.00
R7496:Ush2a	UTSW	1	188,083,284 (GRCm39)	missense	possibly damaging	0.50
R7552:Ush2a	UTSW	1	187,999,241 (GRCm39)	missense	possibly damaging	0.65
R7556:Ush2a	UTSW	1	188,689,690 (GRCm39)	missense	probably benign	0.31
R7575:Ush2a	UTSW	1	188,554,885 (GRCm39)	missense	possibly damaging	0.90
R7578:Ush2a	UTSW	1	188,282,110 (GRCm39)	missense	probably damaging	1.00
R7584:Ush2a	UTSW	1	188,460,306 (GRCm39)	critical splice acceptor site	probably null
R7589:Ush2a	UTSW	1	188,275,046 (GRCm39)	missense	probably benign	0.00
R7602:Ush2a	UTSW	1	188,380,606 (GRCm39)	missense	probably damaging	1.00
R7670:Ush2a	UTSW	1	188,516,905 (GRCm39)	missense	possibly damaging	0.78
R7743:Ush2a	UTSW	1	188,542,376 (GRCm39)	missense	probably benign	0.05
R7753:Ush2a	UTSW	1	188,175,603 (GRCm39)	missense	probably benign	0.28
R7767:Ush2a	UTSW	1	188,285,457 (GRCm39)	missense	probably benign	0.01
R7784:Ush2a	UTSW	1	188,176,789 (GRCm39)	missense	possibly damaging	0.55
R7831:Ush2a	UTSW	1	188,492,038 (GRCm39)	missense	probably damaging	0.98
R7834:Ush2a	UTSW	1	188,465,637 (GRCm39)	nonsense	probably null
R7847:Ush2a	UTSW	1	188,163,005 (GRCm39)	missense	probably damaging	1.00
R7926:Ush2a	UTSW	1	188,460,797 (GRCm39)	missense	probably benign
R7969:Ush2a	UTSW	1	188,558,568 (GRCm39)	missense	probably benign	0.02
R7978:Ush2a	UTSW	1	188,132,135 (GRCm39)	missense	probably benign	0.00
R7990:Ush2a	UTSW	1	188,274,996 (GRCm39)	missense	probably benign	0.00
R8001:Ush2a	UTSW	1	188,643,261 (GRCm39)	missense	probably damaging	0.98
R8039:Ush2a	UTSW	1	188,689,570 (GRCm39)	missense	probably damaging	1.00
R8077:Ush2a	UTSW	1	188,275,025 (GRCm39)	missense	probably benign	0.01
R8165:Ush2a	UTSW	1	188,183,952 (GRCm39)	missense	possibly damaging	0.70
R8208:Ush2a	UTSW	1	188,606,990 (GRCm39)	missense	possibly damaging	0.95
R8220:Ush2a	UTSW	1	188,460,863 (GRCm39)	missense	probably damaging	1.00
R8270:Ush2a	UTSW	1	188,176,838 (GRCm39)	missense	probably benign	0.06
R8316:Ush2a	UTSW	1	188,178,899 (GRCm39)	missense	probably benign	0.01
R8347:Ush2a	UTSW	1	188,679,281 (GRCm39)	missense	probably benign	0.02
R8360:Ush2a	UTSW	1	188,198,468 (GRCm39)	missense	probably benign	0.01
R8362:Ush2a	UTSW	1	188,689,650 (GRCm39)	missense	probably damaging	0.96
R8386:Ush2a	UTSW	1	188,460,403 (GRCm39)	missense	possibly damaging	0.80
R8401:Ush2a	UTSW	1	188,275,062 (GRCm39)	missense	probably benign	0.10
R8439:Ush2a	UTSW	1	188,582,254 (GRCm39)	missense	probably damaging	1.00
R8465:Ush2a	UTSW	1	188,147,875 (GRCm39)	missense	probably damaging	1.00
R8478:Ush2a	UTSW	1	188,175,429 (GRCm39)	missense	possibly damaging	0.83
R8540:Ush2a	UTSW	1	188,274,858 (GRCm39)	missense	probably benign	0.00
R8684:Ush2a	UTSW	1	188,643,220 (GRCm39)	missense	possibly damaging	0.45
R8685:Ush2a	UTSW	1	188,198,401 (GRCm39)	missense	probably damaging	1.00
R8699:Ush2a	UTSW	1	188,643,574 (GRCm39)	missense	probably damaging	1.00
R8720:Ush2a	UTSW	1	188,090,715 (GRCm39)	missense	probably benign	0.05
R8754:Ush2a	UTSW	1	188,581,162 (GRCm39)	nonsense	probably null
R8756:Ush2a	UTSW	1	188,644,141 (GRCm39)	missense	possibly damaging	0.91
R8788:Ush2a	UTSW	1	188,475,816 (GRCm39)	nonsense	probably null
R8803:Ush2a	UTSW	1	188,676,998 (GRCm39)	missense	probably benign
R8817:Ush2a	UTSW	1	187,995,231 (GRCm39)	start codon destroyed	probably benign	0.00
R8837:Ush2a	UTSW	1	188,485,847 (GRCm39)	missense	probably benign
R8880:Ush2a	UTSW	1	188,460,733 (GRCm39)	missense	probably benign	0.11
R8902:Ush2a	UTSW	1	188,175,281 (GRCm39)	missense	probably damaging	0.98
R8918:Ush2a	UTSW	1	188,270,017 (GRCm39)	missense	possibly damaging	0.85
R8940:Ush2a	UTSW	1	188,132,505 (GRCm39)	missense	probably benign	0.02
R8968:Ush2a	UTSW	1	188,127,956 (GRCm39)	missense	probably damaging	1.00
R8995:Ush2a	UTSW	1	188,176,850 (GRCm39)	missense	probably damaging	0.98
R9011:Ush2a	UTSW	1	188,638,676 (GRCm39)	missense	probably damaging	0.99
R9037:Ush2a	UTSW	1	187,995,487 (GRCm39)	missense	possibly damaging	0.51
R9063:Ush2a	UTSW	1	187,995,457 (GRCm39)	missense	probably benign	0.00
R9089:Ush2a	UTSW	1	188,487,374 (GRCm39)	nonsense	probably null
R9096:Ush2a	UTSW	1	188,198,333 (GRCm39)	missense	probably benign	0.00
R9118:Ush2a	UTSW	1	188,386,839 (GRCm39)	missense	probably damaging	0.98
R9174:Ush2a	UTSW	1	188,460,416 (GRCm39)	missense	probably damaging	0.99
R9210:Ush2a	UTSW	1	188,516,866 (GRCm39)	missense	probably null	0.01
R9242:Ush2a	UTSW	1	188,365,787 (GRCm39)	missense	probably damaging	1.00
R9321:Ush2a	UTSW	1	188,089,148 (GRCm39)	missense	probably damaging	0.97
R9338:Ush2a	UTSW	1	188,308,489 (GRCm39)	critical splice donor site	probably null
R9357:Ush2a	UTSW	1	188,607,147 (GRCm39)	missense	probably benign	0.01
R9358:Ush2a	UTSW	1	188,607,147 (GRCm39)	missense	probably benign	0.01
R9406:Ush2a	UTSW	1	187,995,646 (GRCm39)	missense	probably benign	0.00
R9407:Ush2a	UTSW	1	188,644,045 (GRCm39)	missense	probably damaging	1.00
R9428:Ush2a	UTSW	1	188,175,316 (GRCm39)	missense	probably damaging	1.00
R9456:Ush2a	UTSW	1	188,558,589 (GRCm39)	missense	probably benign	0.00
R9507:Ush2a	UTSW	1	188,596,937 (GRCm39)	nonsense	probably null
R9509:Ush2a	UTSW	1	188,648,440 (GRCm39)	missense	probably damaging	1.00
R9512:Ush2a	UTSW	1	188,643,160 (GRCm39)	missense	probably damaging	0.99
R9564:Ush2a	UTSW	1	188,268,551 (GRCm39)	missense	possibly damaging	0.90
R9612:Ush2a	UTSW	1	188,092,063 (GRCm39)	nonsense	probably null
R9670:Ush2a	UTSW	1	188,360,768 (GRCm39)	missense	probably benign	0.03
R9684:Ush2a	UTSW	1	188,132,078 (GRCm39)	missense	possibly damaging	0.67
R9798:Ush2a	UTSW	1	188,644,002 (GRCm39)	missense	possibly damaging	0.80
RF017:Ush2a	UTSW	1	187,995,666 (GRCm39)	missense	probably damaging	1.00
U24488:Ush2a	UTSW	1	188,162,963 (GRCm39)	missense	probably damaging	0.99
X0011:Ush2a	UTSW	1	188,051,166 (GRCm39)	missense	probably benign	0.00
X0024:Ush2a	UTSW	1	188,132,479 (GRCm39)	missense	probably damaging	1.00
X0026:Ush2a	UTSW	1	188,051,222 (GRCm39)	missense	possibly damaging	0.94
X0062:Ush2a	UTSW	1	188,282,051 (GRCm39)	missense	probably damaging	1.00
Y4340:Ush2a	UTSW	1	188,475,826 (GRCm39)	missense	possibly damaging	0.87
Y4341:Ush2a	UTSW	1	188,475,826 (GRCm39)	missense	possibly damaging	0.87
Z1088:Ush2a	UTSW	1	188,679,201 (GRCm39)	missense	probably benign	0.26
Z1088:Ush2a	UTSW	1	188,644,180 (GRCm39)	missense	probably benign
Z1176:Ush2a	UTSW	1	188,089,038 (GRCm39)	missense	probably damaging	1.00
Z1177:Ush2a	UTSW	1	188,644,407 (GRCm39)	missense	possibly damaging	0.77
Z1177:Ush2a	UTSW	1	188,465,741 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTGTGTCTCCTATGAAGGTCC -3'
(R):5'- TGAAATACCCTCTTCCATATCCAG -3'

Sequencing Primer
(F):5'- GTGTCTCCTATGAAGGTCCAGAAAC -3'
(R):5'- TCTTCCATATCCAGAAGAAATGGC -3'

Posted On

2016-12-15