Incidental Mutation 'R6083:Ahnak2'
ID 482327
Institutional Source Beutler Lab
Gene Symbol Ahnak2
Ensembl Gene ENSMUSG00000072812
Gene Name AHNAK nucleoprotein 2
Synonyms LOC382643
MMRRC Submission 044242-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R6083 (G1)
Quality Score 96.0077
Status Not validated
Chromosome 12
Chromosomal Location 112772194-112802657 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112782612 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1205 (V1205A)
Ref Sequence ENSEMBL: ENSMUSP00000114522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000124526] [ENSMUST00000128258]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000124526
AA Change: V1205A

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000114522
Gene: ENSMUSG00000072812
AA Change: V1205A

DomainStartEndE-ValueType
low complexity region 73 94 N/A INTRINSIC
PDZ 118 190 6e-4 SMART
low complexity region 268 281 N/A INTRINSIC
low complexity region 300 319 N/A INTRINSIC
low complexity region 405 429 N/A INTRINSIC
internal_repeat_1 465 898 2.74e-235 PROSPERO
low complexity region 905 923 N/A INTRINSIC
low complexity region 990 1013 N/A INTRINSIC
low complexity region 1076 1092 N/A INTRINSIC
internal_repeat_1 1145 1588 2.74e-235 PROSPERO
low complexity region 1590 1632 N/A INTRINSIC
low complexity region 1639 1700 N/A INTRINSIC
low complexity region 1709 1736 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128258
SMART Domains Protein: ENSMUSP00000122404
Gene: ENSMUSG00000072812

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 96% (76/79)
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik C A 11: 58,878,851 (GRCm38) P73Q possibly damaging Het
Aak1 A T 6: 86,963,996 (GRCm38) I591F unknown Het
Ace C A 11: 105,985,267 (GRCm38) Y816* probably null Het
Ap2a1 G A 7: 44,907,751 (GRCm38) R263W probably damaging Het
Arhgap29 A G 3: 121,992,748 (GRCm38) T257A probably benign Het
Bora A T 14: 99,062,294 (GRCm38) Q234L possibly damaging Het
Ccdc17 A T 4: 116,596,926 (GRCm38) Q47L possibly damaging Het
Cep170 C T 1: 176,774,625 (GRCm38) R305H probably damaging Het
Cyb5r4 C T 9: 87,057,168 (GRCm38) P335S probably damaging Het
Cyp2c54 A G 19: 40,073,762 (GRCm38) L17P probably benign Het
Cyp2c69 A T 19: 39,849,456 (GRCm38) V394E probably damaging Het
Dedd2 G A 7: 25,211,290 (GRCm38) P154S probably benign Het
Defb36 A T 2: 152,604,488 (GRCm38) M1L unknown Het
Dnaja1 A G 4: 40,731,713 (GRCm38) D263G probably benign Het
Dock10 T C 1: 80,532,431 (GRCm38) N1560S probably damaging Het
Efnb2 T C 8: 8,622,328 (GRCm38) probably null Het
Eif3e A G 15: 43,266,144 (GRCm38) I196T probably damaging Het
Ercc4 T A 16: 13,110,039 (GRCm38) C24* probably null Het
Fmn1 A G 2: 113,364,303 (GRCm38) E116G unknown Het
Gnas A G 2: 174,297,862 (GRCm38) M1V probably null Het
Grin2a C A 16: 9,579,540 (GRCm38) M894I probably benign Het
Herc2 G T 7: 56,228,505 (GRCm38) S4566I probably benign Het
Hmcn1 G T 1: 150,755,294 (GRCm38) P918T probably damaging Het
Hmcn1 G A 1: 150,755,293 (GRCm38) P918L probably damaging Het
Hsd3b2 T A 3: 98,712,056 (GRCm38) Y191F possibly damaging Het
Ifit1bl2 A C 19: 34,619,817 (GRCm38) F133C possibly damaging Het
Itih2 T C 2: 10,108,894 (GRCm38) probably benign Het
Itsn1 T C 16: 91,853,011 (GRCm38) L191P probably benign Het
Kdr T C 5: 75,944,366 (GRCm38) K1068R probably damaging Het
Lmtk2 T C 5: 144,182,756 (GRCm38) L1345P probably damaging Het
Man2b2 T A 5: 36,809,041 (GRCm38) D936V probably damaging Het
Mapk1ip1 G A 7: 138,836,588 (GRCm38) R38* probably null Het
Med13l T C 5: 118,721,486 (GRCm38) V246A possibly damaging Het
Mlec T A 5: 115,148,049 (GRCm38) T248S probably benign Het
Mslnl T A 17: 25,737,902 (GRCm38) V54D possibly damaging Het
Muc16 G A 9: 18,657,212 (GRCm38) T1337I unknown Het
Nek7 C T 1: 138,515,654 (GRCm38) S187N probably damaging Het
Neto2 A G 8: 85,640,585 (GRCm38) V538A probably benign Het
Nktr T C 9: 121,750,136 (GRCm38) probably benign Het
Npy6r A G 18: 44,276,492 (GRCm38) K327E probably damaging Het
Olfr1230 T A 2: 89,297,024 (GRCm38) D82V probably damaging Het
Olfr1245 T C 2: 89,575,672 (GRCm38) D18G probably benign Het
Olfr1463 A T 19: 13,234,525 (GRCm38) I92F probably benign Het
Olfr402 A G 11: 74,155,570 (GRCm38) M139V possibly damaging Het
Olfr705 A G 7: 106,873,582 (GRCm38) I221T probably damaging Het
Pcdhga4 A T 18: 37,687,425 (GRCm38) N676Y probably damaging Het
Pde2a T C 7: 101,502,879 (GRCm38) I331T possibly damaging Het
Pip5k1b A T 19: 24,304,035 (GRCm38) Y486* probably null Het
Plch2 A G 4: 155,000,818 (GRCm38) M272T probably benign Het
Rbm12 G A 2: 156,097,726 (GRCm38) probably benign Het
Rgs19 T C 2: 181,689,507 (GRCm38) E111G probably damaging Het
Rhbdf1 T C 11: 32,210,066 (GRCm38) N145S probably damaging Het
Rnf4 T A 5: 34,351,221 (GRCm38) probably null Het
Rpa1 T C 11: 75,314,911 (GRCm38) T207A probably damaging Het
Rufy4 A C 1: 74,129,397 (GRCm38) Q113P probably damaging Het
Sh3pxd2b T G 11: 32,422,985 (GRCm38) S717R probably benign Het
Sin3a A T 9: 57,107,540 (GRCm38) I682F probably damaging Het
Sipa1l2 A T 8: 125,468,473 (GRCm38) V842E possibly damaging Het
Slc5a4a A G 10: 76,147,597 (GRCm38) I23V unknown Het
Slitrk5 A G 14: 111,681,725 (GRCm38) N927S probably benign Het
Smc6 A G 12: 11,276,353 (GRCm38) K117R possibly damaging Het
Sod2 G A 17: 13,008,031 (GRCm38) probably benign Het
Stxbp1 A G 2: 32,796,018 (GRCm38) I567T possibly damaging Het
Tbkbp1 C A 11: 97,147,380 (GRCm38) L209F probably damaging Het
Tll1 G T 8: 64,038,586 (GRCm38) probably null Het
Tmem38b T C 4: 53,840,765 (GRCm38) L60S probably damaging Het
Trib1 G A 15: 59,654,475 (GRCm38) R298H probably damaging Het
Trim30b A G 7: 104,366,142 (GRCm38) V13A probably damaging Het
Trip11 G A 12: 101,889,742 (GRCm38) T425I probably benign Het
Ttn C A 2: 76,889,973 (GRCm38) probably benign Het
Tymp GC GCC 15: 89,374,364 (GRCm38) probably null Het
Ush2a T A 1: 188,267,023 (GRCm38) S177T probably damaging Het
Usp40 A T 1: 87,978,559 (GRCm38) S651R probably benign Het
Vmn1r125 T C 7: 21,272,719 (GRCm38) S181P probably damaging Het
Vmn1r198 T A 13: 22,354,758 (GRCm38) V138D possibly damaging Het
Vmn1r56 A G 7: 5,196,318 (GRCm38) L100P probably damaging Het
Vmn2r32 T A 7: 7,464,210 (GRCm38) D773V probably benign Het
Vmn2r53 A C 7: 12,581,881 (GRCm38) H670Q probably benign Het
Vmn2r69 A T 7: 85,406,503 (GRCm38) I809N probably damaging Het
Wdr7 G A 18: 63,728,469 (GRCm38) G184D probably damaging Het
Wnk1 C T 6: 120,037,601 (GRCm38) G11D probably damaging Het
Zfp110 A C 7: 12,844,675 (GRCm38) E171A possibly damaging Het
Zkscan6 T C 11: 65,815,931 (GRCm38) V134A probably damaging Het
Other mutations in Ahnak2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02257:Ahnak2 APN 12 112,785,285 (GRCm38) missense possibly damaging 0.79
IGL02994:Ahnak2 APN 12 112,786,207 (GRCm38) missense probably damaging 0.99
PIT4480001:Ahnak2 UTSW 12 112,773,924 (GRCm38) missense possibly damaging 0.79
PIT4810001:Ahnak2 UTSW 12 112,785,594 (GRCm38) missense
R0025:Ahnak2 UTSW 12 112,785,534 (GRCm38) missense probably damaging 0.99
R0025:Ahnak2 UTSW 12 112,785,534 (GRCm38) missense probably damaging 0.99
R0038:Ahnak2 UTSW 12 112,774,462 (GRCm38) missense probably benign 0.00
R0125:Ahnak2 UTSW 12 112,785,156 (GRCm38) missense probably benign 0.41
R1173:Ahnak2 UTSW 12 112,785,789 (GRCm38) missense probably damaging 1.00
R1494:Ahnak2 UTSW 12 112,787,950 (GRCm38) missense probably damaging 1.00
R1712:Ahnak2 UTSW 12 112,785,378 (GRCm38) missense probably benign 0.05
R1888:Ahnak2 UTSW 12 112,773,891 (GRCm38) missense possibly damaging 0.49
R1888:Ahnak2 UTSW 12 112,773,891 (GRCm38) missense possibly damaging 0.49
R2042:Ahnak2 UTSW 12 112,785,819 (GRCm38) missense probably damaging 0.98
R2056:Ahnak2 UTSW 12 112,785,006 (GRCm38) missense probably benign 0.00
R2417:Ahnak2 UTSW 12 112,775,371 (GRCm38) missense probably damaging 1.00
R2762:Ahnak2 UTSW 12 112,785,364 (GRCm38) missense probably damaging 0.96
R3618:Ahnak2 UTSW 12 112,786,222 (GRCm38) missense probably damaging 1.00
R3706:Ahnak2 UTSW 12 112,773,651 (GRCm38) missense possibly damaging 0.74
R3739:Ahnak2 UTSW 12 112,774,558 (GRCm38) missense probably benign 0.05
R3950:Ahnak2 UTSW 12 112,785,789 (GRCm38) missense probably damaging 1.00
R4485:Ahnak2 UTSW 12 112,779,767 (GRCm38) unclassified probably benign
R4651:Ahnak2 UTSW 12 112,774,837 (GRCm38) missense possibly damaging 0.93
R4652:Ahnak2 UTSW 12 112,774,837 (GRCm38) missense possibly damaging 0.93
R4831:Ahnak2 UTSW 12 112,775,749 (GRCm38) missense probably damaging 0.99
R4836:Ahnak2 UTSW 12 112,774,116 (GRCm38) missense probably damaging 1.00
R4837:Ahnak2 UTSW 12 112,785,739 (GRCm38) missense probably benign 0.00
R4864:Ahnak2 UTSW 12 112,773,606 (GRCm38) missense probably damaging 0.98
R4908:Ahnak2 UTSW 12 112,775,272 (GRCm38) missense probably benign 0.00
R5067:Ahnak2 UTSW 12 112,785,316 (GRCm38) missense probably benign 0.01
R5146:Ahnak2 UTSW 12 112,775,726 (GRCm38) missense probably benign 0.00
R5228:Ahnak2 UTSW 12 112,775,386 (GRCm38) missense probably benign 0.03
R5255:Ahnak2 UTSW 12 112,773,378 (GRCm38) missense possibly damaging 0.92
R5323:Ahnak2 UTSW 12 112,779,812 (GRCm38) unclassified probably benign
R5523:Ahnak2 UTSW 12 112,775,208 (GRCm38) missense probably damaging 1.00
R5733:Ahnak2 UTSW 12 112,775,666 (GRCm38) nonsense probably null
R5799:Ahnak2 UTSW 12 112,778,930 (GRCm38) unclassified probably benign
R5817:Ahnak2 UTSW 12 112,774,003 (GRCm38) missense probably damaging 1.00
R5835:Ahnak2 UTSW 12 112,775,796 (GRCm38) missense possibly damaging 0.66
R6083:Ahnak2 UTSW 12 112,782,999 (GRCm38) missense probably benign 0.01
R6167:Ahnak2 UTSW 12 112,783,122 (GRCm38) missense probably benign 0.03
R6168:Ahnak2 UTSW 12 112,783,122 (GRCm38) missense probably benign 0.03
R6405:Ahnak2 UTSW 12 112,773,337 (GRCm38) missense probably damaging 1.00
R6460:Ahnak2 UTSW 12 112,786,990 (GRCm38) missense probably null 0.27
R6495:Ahnak2 UTSW 12 112,773,714 (GRCm38) missense probably damaging 1.00
R6544:Ahnak2 UTSW 12 112,780,652 (GRCm38) unclassified probably benign
R6656:Ahnak2 UTSW 12 112,785,371 (GRCm38) missense probably benign 0.02
R6679:Ahnak2 UTSW 12 112,772,976 (GRCm38) missense probably damaging 1.00
R6723:Ahnak2 UTSW 12 112,778,793 (GRCm38) missense probably damaging 1.00
R6774:Ahnak2 UTSW 12 112,773,738 (GRCm38) missense possibly damaging 0.87
R6884:Ahnak2 UTSW 12 112,775,429 (GRCm38) missense possibly damaging 0.81
R6906:Ahnak2 UTSW 12 112,785,313 (GRCm38) missense probably benign 0.00
R6919:Ahnak2 UTSW 12 112,774,684 (GRCm38) missense possibly damaging 0.55
R7036:Ahnak2 UTSW 12 112,778,781 (GRCm38) unclassified probably benign
R7037:Ahnak2 UTSW 12 112,774,278 (GRCm38) missense probably damaging 0.99
R7064:Ahnak2 UTSW 12 112,780,742 (GRCm38) unclassified probably benign
R7072:Ahnak2 UTSW 12 112,788,166 (GRCm38) missense
R7112:Ahnak2 UTSW 12 112,783,119 (GRCm38) 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 12 112,781,208 (GRCm38) missense
R7448:Ahnak2 UTSW 12 112,782,502 (GRCm38) missense
R7488:Ahnak2 UTSW 12 112,785,021 (GRCm38) missense
R7508:Ahnak2 UTSW 12 112,774,405 (GRCm38) missense possibly damaging 0.46
R7560:Ahnak2 UTSW 12 112,779,674 (GRCm38) missense
R7611:Ahnak2 UTSW 12 112,788,129 (GRCm38) missense
R7743:Ahnak2 UTSW 12 112,784,763 (GRCm38) missense not run
R7762:Ahnak2 UTSW 12 112,775,680 (GRCm38) missense probably benign 0.27
R7780:Ahnak2 UTSW 12 112,782,613 (GRCm38) missense
R7930:Ahnak2 UTSW 12 112,779,125 (GRCm38) missense
R7985:Ahnak2 UTSW 12 112,778,963 (GRCm38) missense
R8114:Ahnak2 UTSW 12 112,774,729 (GRCm38) missense probably benign 0.05
R8122:Ahnak2 UTSW 12 112,776,076 (GRCm38) missense possibly damaging 0.83
R8240:Ahnak2 UTSW 12 112,774,648 (GRCm38) missense probably benign 0.03
R8289:Ahnak2 UTSW 12 112,775,808 (GRCm38) missense possibly damaging 0.46
R8315:Ahnak2 UTSW 12 112,781,133 (GRCm38) missense
R8430:Ahnak2 UTSW 12 112,774,687 (GRCm38) missense possibly damaging 0.86
R8476:Ahnak2 UTSW 12 112,782,991 (GRCm38) unclassified probably benign
R8712:Ahnak2 UTSW 12 112,787,089 (GRCm38) missense
R8712:Ahnak2 UTSW 12 112,786,252 (GRCm38) missense
R8778:Ahnak2 UTSW 12 112,783,158 (GRCm38) missense
R8830:Ahnak2 UTSW 12 112,787,036 (GRCm38) missense
R9014:Ahnak2 UTSW 12 112,773,736 (GRCm38) missense possibly damaging 0.95
R9055:Ahnak2 UTSW 12 112,774,585 (GRCm38) missense possibly damaging 0.90
R9327:Ahnak2 UTSW 12 112,784,826 (GRCm38) missense
R9386:Ahnak2 UTSW 12 112,778,993 (GRCm38) missense
R9445:Ahnak2 UTSW 12 112,781,355 (GRCm38) missense
R9462:Ahnak2 UTSW 12 112,787,035 (GRCm38) missense
R9559:Ahnak2 UTSW 12 112,786,162 (GRCm38) critical splice donor site probably null
R9571:Ahnak2 UTSW 12 112,776,076 (GRCm38) missense possibly damaging 0.83
R9589:Ahnak2 UTSW 12 112,782,728 (GRCm38) missense
R9664:Ahnak2 UTSW 12 112,774,929 (GRCm38) missense probably damaging 0.97
R9711:Ahnak2 UTSW 12 112,773,034 (GRCm38) missense possibly damaging 0.83
Z1177:Ahnak2 UTSW 12 112,781,199 (GRCm38) missense
Predicted Primers PCR Primer
(F):5'- TGAACTTGCTGTCTTTGGCC -3'
(R):5'- TCAAGATGCCCAAGGTGGAC -3'

Posted On 2017-07-14