Incidental Mutation 'R7037:Ahnak2'
ID 546787
Institutional Source Beutler Lab
Gene Symbol Ahnak2
Ensembl Gene ENSMUSG00000072812
Gene Name AHNAK nucleoprotein 2
Synonyms LOC382643
MMRRC Submission 045137-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R7037 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 112738631-112766278 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 112740712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 314 (V314D)
Ref Sequence ENSEMBL: ENSMUSP00000098572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101010] [ENSMUST00000128258]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000101010
AA Change: V314D

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098572
Gene: ENSMUSG00000072812
AA Change: V314D

DomainStartEndE-ValueType
low complexity region 5 14 N/A INTRINSIC
low complexity region 364 375 N/A INTRINSIC
low complexity region 545 564 N/A INTRINSIC
low complexity region 717 733 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000128258
AA Change: V1120D

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122404
Gene: ENSMUSG00000072812
AA Change: V1120D

DomainStartEndE-ValueType
low complexity region 5 66 N/A INTRINSIC
internal_repeat_1 67 251 2.35e-83 PROSPERO
low complexity region 285 308 N/A INTRINSIC
low complexity region 371 389 N/A INTRINSIC
internal_repeat_1 413 597 2.35e-83 PROSPERO
low complexity region 734 756 N/A INTRINSIC
low complexity region 811 820 N/A INTRINSIC
low complexity region 1170 1181 N/A INTRINSIC
low complexity region 1351 1370 N/A INTRINSIC
low complexity region 1523 1539 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137195
SMART Domains Protein: ENSMUSP00000116582
Gene: ENSMUSG00000072812

DomainStartEndE-ValueType
internal_repeat_1 2 521 3.81e-221 PROSPERO
low complexity region 557 569 N/A INTRINSIC
internal_repeat_1 606 1126 3.81e-221 PROSPERO
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (70/70)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 A T 7: 119,367,266 (GRCm39) N33I probably damaging Het
Arl14epl T G 18: 47,065,510 (GRCm39) C92G probably benign Het
Atp6v1h T A 1: 5,220,215 (GRCm39) M423K possibly damaging Het
Baiap3 G A 17: 25,462,814 (GRCm39) R1075C probably benign Het
Baz2b C T 2: 59,764,014 (GRCm39) probably null Het
Bicral T C 17: 47,135,560 (GRCm39) H550R probably benign Het
C1rl A G 6: 124,485,598 (GRCm39) Y323C probably damaging Het
Ccr9 T A 9: 123,609,036 (GRCm39) H239Q possibly damaging Het
Cdh16 T A 8: 105,344,267 (GRCm39) R91* probably null Het
Coro1c A G 5: 113,983,457 (GRCm39) F357S possibly damaging Het
Cpsf4 G A 5: 145,112,939 (GRCm39) R141Q possibly damaging Het
Cryzl2 G A 1: 157,298,318 (GRCm39) V236I probably damaging Het
Cttnbp2 T C 6: 18,435,117 (GRCm39) E247G probably damaging Het
Dbr1 T A 9: 99,458,621 (GRCm39) probably null Het
Dclk1 T C 3: 55,370,469 (GRCm39) S23P probably damaging Het
Dpyd A T 3: 118,692,938 (GRCm39) I361F probably benign Het
Elac2 A G 11: 64,874,537 (GRCm39) E218G probably benign Het
Eml4 T A 17: 83,732,756 (GRCm39) D136E probably benign Het
Foxred1 A T 9: 35,118,844 (GRCm39) S223T probably benign Het
Garin5b G T 7: 4,761,584 (GRCm39) probably benign Het
Gask1a G T 9: 121,794,592 (GRCm39) V249L possibly damaging Het
Gm11595 A G 11: 99,663,474 (GRCm39) C69R unknown Het
Gna14 A T 19: 16,511,128 (GRCm39) H59L Het
H2-Ab1 T A 17: 34,486,963 (GRCm39) I239N probably damaging Het
Ints7 T C 1: 191,351,717 (GRCm39) S809P probably benign Het
Itgb4 T A 11: 115,896,391 (GRCm39) Y1379* probably null Het
Kank1 A G 19: 25,407,705 (GRCm39) D1233G probably damaging Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Lrrc66 A T 5: 73,764,504 (GRCm39) D846E probably benign Het
Lyst A G 13: 13,791,251 (GRCm39) H38R probably damaging Het
Mc3r T C 2: 172,091,554 (GRCm39) F259L probably damaging Het
Med25 A G 7: 44,532,206 (GRCm39) Y384H probably damaging Het
Met A T 6: 17,547,127 (GRCm39) probably benign Het
Mmp16 T C 4: 18,116,148 (GRCm39) V584A possibly damaging Het
Mrgprb3 A G 7: 48,292,942 (GRCm39) L203P probably damaging Het
Mus81 A G 19: 5,536,108 (GRCm39) L185P probably damaging Het
Naaa A G 5: 92,424,934 (GRCm39) V75A possibly damaging Het
Obscn T A 11: 58,934,755 (GRCm39) T5292S probably damaging Het
Obscn T C 11: 58,943,430 (GRCm39) S4801G probably damaging Het
Or2ag19 T C 7: 106,444,543 (GRCm39) S242P probably damaging Het
Otof T C 5: 30,538,882 (GRCm39) D1112G probably benign Het
Pals1 T A 12: 78,843,973 (GRCm39) I59N probably damaging Het
Pbx4 A G 8: 70,317,525 (GRCm39) R170G probably damaging Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Plce1 A T 19: 38,690,461 (GRCm39) D715V probably damaging Het
Pms1 T C 1: 53,246,770 (GRCm39) T311A possibly damaging Het
Popdc2 A G 16: 38,194,629 (GRCm39) D350G probably damaging Het
Prex1 A G 2: 166,429,100 (GRCm39) V661A probably benign Het
Ptbp2 A G 3: 119,545,557 (GRCm39) Y130H probably damaging Het
Rev3l C T 10: 39,727,971 (GRCm39) R2707W probably damaging Het
Rpl37 G A 15: 5,147,185 (GRCm39) R75K probably null Het
Ryr3 T A 2: 112,779,475 (GRCm39) R259* probably null Het
Scai A T 2: 39,080,633 (GRCm39) S8T probably benign Het
Scn4a C A 11: 106,211,726 (GRCm39) L1430F probably damaging Het
Sema5a A G 15: 32,686,993 (GRCm39) K1035R probably damaging Het
Siah3 A G 14: 75,763,025 (GRCm39) H92R probably benign Het
Smc4 G A 3: 68,925,528 (GRCm39) V342I possibly damaging Het
Spata31d1a C T 13: 59,848,138 (GRCm39) C1330Y possibly damaging Het
St18 C A 1: 6,873,260 (GRCm39) H332N possibly damaging Het
Sycp1 T A 3: 102,806,250 (GRCm39) E480D possibly damaging Het
Tex14 A T 11: 87,388,741 (GRCm39) I323F probably damaging Het
Tm7sf2 A T 19: 6,114,107 (GRCm39) probably null Het
Tmem241 G T 18: 12,246,463 (GRCm39) H62Q probably benign Het
Tmem54 T A 4: 129,004,594 (GRCm39) probably null Het
Tomm34 A G 2: 163,912,398 (GRCm39) L39P probably damaging Het
Triml2 T A 8: 43,646,573 (GRCm39) V354D probably damaging Het
Usp19 T C 9: 108,374,157 (GRCm39) I738T possibly damaging Het
Utp25 A C 1: 192,803,031 (GRCm39) probably null Het
Utrn T A 10: 12,702,514 (GRCm39) probably null Het
Zfp1005 G T 2: 150,108,376 (GRCm39) V46F possibly damaging Het
Other mutations in Ahnak2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02257:Ahnak2 APN 12 112,748,905 (GRCm39) missense possibly damaging 0.79
IGL02994:Ahnak2 APN 12 112,749,827 (GRCm39) missense probably damaging 0.99
PIT4480001:Ahnak2 UTSW 12 112,740,358 (GRCm39) missense possibly damaging 0.79
PIT4810001:Ahnak2 UTSW 12 112,749,214 (GRCm39) missense
R0025:Ahnak2 UTSW 12 112,749,154 (GRCm39) missense probably damaging 0.99
R0025:Ahnak2 UTSW 12 112,749,154 (GRCm39) missense probably damaging 0.99
R0038:Ahnak2 UTSW 12 112,740,896 (GRCm39) missense probably benign 0.00
R0125:Ahnak2 UTSW 12 112,748,776 (GRCm39) missense probably benign 0.41
R1173:Ahnak2 UTSW 12 112,749,409 (GRCm39) missense probably damaging 1.00
R1494:Ahnak2 UTSW 12 112,751,570 (GRCm39) missense probably damaging 1.00
R1712:Ahnak2 UTSW 12 112,748,998 (GRCm39) missense probably benign 0.05
R1888:Ahnak2 UTSW 12 112,740,325 (GRCm39) missense possibly damaging 0.49
R1888:Ahnak2 UTSW 12 112,740,325 (GRCm39) missense possibly damaging 0.49
R2042:Ahnak2 UTSW 12 112,749,439 (GRCm39) missense probably damaging 0.98
R2056:Ahnak2 UTSW 12 112,748,626 (GRCm39) missense probably benign 0.00
R2417:Ahnak2 UTSW 12 112,741,805 (GRCm39) missense probably damaging 1.00
R2762:Ahnak2 UTSW 12 112,748,984 (GRCm39) missense probably damaging 0.96
R3618:Ahnak2 UTSW 12 112,749,842 (GRCm39) missense probably damaging 1.00
R3706:Ahnak2 UTSW 12 112,740,085 (GRCm39) missense possibly damaging 0.74
R3739:Ahnak2 UTSW 12 112,740,992 (GRCm39) missense probably benign 0.05
R3950:Ahnak2 UTSW 12 112,749,409 (GRCm39) missense probably damaging 1.00
R4485:Ahnak2 UTSW 12 112,745,944 (GRCm39) unclassified probably benign
R4651:Ahnak2 UTSW 12 112,741,271 (GRCm39) missense possibly damaging 0.93
R4652:Ahnak2 UTSW 12 112,741,271 (GRCm39) missense possibly damaging 0.93
R4831:Ahnak2 UTSW 12 112,742,183 (GRCm39) missense probably damaging 0.99
R4836:Ahnak2 UTSW 12 112,740,550 (GRCm39) missense probably damaging 1.00
R4837:Ahnak2 UTSW 12 112,749,359 (GRCm39) missense probably benign 0.00
R4864:Ahnak2 UTSW 12 112,740,040 (GRCm39) missense probably damaging 0.98
R4908:Ahnak2 UTSW 12 112,741,706 (GRCm39) missense probably benign 0.00
R5067:Ahnak2 UTSW 12 112,748,936 (GRCm39) missense probably benign 0.01
R5146:Ahnak2 UTSW 12 112,742,160 (GRCm39) missense probably benign 0.00
R5228:Ahnak2 UTSW 12 112,741,820 (GRCm39) missense probably benign 0.03
R5255:Ahnak2 UTSW 12 112,739,812 (GRCm39) missense possibly damaging 0.92
R5323:Ahnak2 UTSW 12 112,745,989 (GRCm39) unclassified probably benign
R5523:Ahnak2 UTSW 12 112,741,642 (GRCm39) missense probably damaging 1.00
R5733:Ahnak2 UTSW 12 112,742,100 (GRCm39) nonsense probably null
R5799:Ahnak2 UTSW 12 112,745,365 (GRCm39) unclassified probably benign
R5817:Ahnak2 UTSW 12 112,740,437 (GRCm39) missense probably damaging 1.00
R5835:Ahnak2 UTSW 12 112,742,230 (GRCm39) missense possibly damaging 0.66
R6083:Ahnak2 UTSW 12 112,746,589 (GRCm39) missense probably benign 0.01
R6083:Ahnak2 UTSW 12 112,746,715 (GRCm39) missense probably benign 0.06
R6167:Ahnak2 UTSW 12 112,747,750 (GRCm39) missense probably benign 0.03
R6168:Ahnak2 UTSW 12 112,747,750 (GRCm39) missense probably benign 0.03
R6405:Ahnak2 UTSW 12 112,739,771 (GRCm39) missense probably damaging 1.00
R6460:Ahnak2 UTSW 12 112,750,610 (GRCm39) missense probably null 0.27
R6495:Ahnak2 UTSW 12 112,740,148 (GRCm39) missense probably damaging 1.00
R6544:Ahnak2 UTSW 12 112,746,829 (GRCm39) unclassified probably benign
R6656:Ahnak2 UTSW 12 112,748,991 (GRCm39) missense probably benign 0.02
R6679:Ahnak2 UTSW 12 112,739,410 (GRCm39) missense probably damaging 1.00
R6723:Ahnak2 UTSW 12 112,745,228 (GRCm39) missense probably damaging 1.00
R6774:Ahnak2 UTSW 12 112,740,172 (GRCm39) missense possibly damaging 0.87
R6884:Ahnak2 UTSW 12 112,741,863 (GRCm39) missense possibly damaging 0.81
R6906:Ahnak2 UTSW 12 112,748,933 (GRCm39) missense probably benign 0.00
R6919:Ahnak2 UTSW 12 112,741,118 (GRCm39) missense possibly damaging 0.55
R7036:Ahnak2 UTSW 12 112,745,216 (GRCm39) unclassified probably benign
R7064:Ahnak2 UTSW 12 112,746,919 (GRCm39) unclassified probably benign
R7072:Ahnak2 UTSW 12 112,751,786 (GRCm39) missense
R7112:Ahnak2 UTSW 12 112,747,747 (GRCm39) missense
R7268:Ahnak2 UTSW 12 112,780,802 (GRCm38) missense
R7269:Ahnak2 UTSW 12 112,780,802 (GRCm38) missense
R7270:Ahnak2 UTSW 12 112,780,802 (GRCm38) missense
R7271:Ahnak2 UTSW 12 112,780,802 (GRCm38) missense
R7444:Ahnak2 UTSW 12 112,745,831 (GRCm39) missense
R7448:Ahnak2 UTSW 12 112,746,605 (GRCm39) missense
R7488:Ahnak2 UTSW 12 112,748,641 (GRCm39) missense
R7508:Ahnak2 UTSW 12 112,740,839 (GRCm39) missense possibly damaging 0.46
R7560:Ahnak2 UTSW 12 112,745,851 (GRCm39) missense
R7611:Ahnak2 UTSW 12 112,751,749 (GRCm39) missense
R7743:Ahnak2 UTSW 12 112,748,383 (GRCm39) missense not run
R7762:Ahnak2 UTSW 12 112,742,114 (GRCm39) missense probably benign 0.27
R7780:Ahnak2 UTSW 12 112,746,716 (GRCm39) missense
R7930:Ahnak2 UTSW 12 112,745,560 (GRCm39) missense
R7985:Ahnak2 UTSW 12 112,745,398 (GRCm39) missense
R8114:Ahnak2 UTSW 12 112,741,163 (GRCm39) missense probably benign 0.05
R8122:Ahnak2 UTSW 12 112,742,510 (GRCm39) missense possibly damaging 0.83
R8240:Ahnak2 UTSW 12 112,741,082 (GRCm39) missense probably benign 0.03
R8289:Ahnak2 UTSW 12 112,742,242 (GRCm39) missense possibly damaging 0.46
R8315:Ahnak2 UTSW 12 112,745,756 (GRCm39) missense
R8430:Ahnak2 UTSW 12 112,741,121 (GRCm39) missense possibly damaging 0.86
R8476:Ahnak2 UTSW 12 112,747,100 (GRCm39) unclassified probably benign
R8712:Ahnak2 UTSW 12 112,750,709 (GRCm39) missense
R8712:Ahnak2 UTSW 12 112,749,872 (GRCm39) missense
R8778:Ahnak2 UTSW 12 112,783,158 (GRCm38) missense
R8830:Ahnak2 UTSW 12 112,750,656 (GRCm39) missense
R9014:Ahnak2 UTSW 12 112,740,170 (GRCm39) missense possibly damaging 0.95
R9055:Ahnak2 UTSW 12 112,741,019 (GRCm39) missense possibly damaging 0.90
R9327:Ahnak2 UTSW 12 112,748,446 (GRCm39) missense
R9386:Ahnak2 UTSW 12 112,745,428 (GRCm39) missense
R9445:Ahnak2 UTSW 12 112,745,978 (GRCm39) missense
R9462:Ahnak2 UTSW 12 112,750,655 (GRCm39) missense
R9559:Ahnak2 UTSW 12 112,749,782 (GRCm39) critical splice donor site probably null
R9571:Ahnak2 UTSW 12 112,742,510 (GRCm39) missense possibly damaging 0.83
R9589:Ahnak2 UTSW 12 112,746,831 (GRCm39) missense
R9664:Ahnak2 UTSW 12 112,741,363 (GRCm39) missense probably damaging 0.97
R9711:Ahnak2 UTSW 12 112,739,468 (GRCm39) missense possibly damaging 0.83
Z1177:Ahnak2 UTSW 12 112,745,822 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- GACTCATGCTCACCACAGAG -3'
(R):5'- GAGTCCAAGGTAGAGGCACATATC -3'

Sequencing Primer
(F):5'- TCACCACAGAGACCTGGGATG -3'
(R):5'- TAGAGGCACATATCTCCCTGGAG -3'
Posted On 2019-05-13