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: 0.075) question?
Stock # R6083 (G1)
Quality Score 96.0077
Status Not validated
Chromosome 12
Chromosomal Location 112738631-112766278 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112746715 bp (GRCm39)
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: 58,769,677 (GRCm39) P73Q possibly damaging Het
Aak1 A T 6: 86,940,978 (GRCm39) I591F unknown Het
Ace C A 11: 105,876,093 (GRCm39) Y816* probably null Het
Ap2a1 G A 7: 44,557,175 (GRCm39) R263W probably damaging Het
Arhgap29 A G 3: 121,786,397 (GRCm39) T257A probably benign Het
Bora A T 14: 99,299,730 (GRCm39) Q234L possibly damaging Het
Ccdc17 A T 4: 116,454,123 (GRCm39) Q47L possibly damaging Het
Cep170 C T 1: 176,602,191 (GRCm39) R305H probably damaging Het
Cyb5r4 C T 9: 86,939,221 (GRCm39) P335S probably damaging Het
Cyp2c54 A G 19: 40,062,206 (GRCm39) L17P probably benign Het
Cyp2c69 A T 19: 39,837,900 (GRCm39) V394E probably damaging Het
Dedd2 G A 7: 24,910,715 (GRCm39) P154S probably benign Het
Defb36 A T 2: 152,446,408 (GRCm39) M1L unknown Het
Dnaja1 A G 4: 40,731,713 (GRCm39) D263G probably benign Het
Dock10 T C 1: 80,510,148 (GRCm39) N1560S probably damaging Het
Efnb2 T C 8: 8,672,328 (GRCm39) probably null Het
Eif3e A G 15: 43,129,540 (GRCm39) I196T probably damaging Het
Ercc4 T A 16: 12,927,903 (GRCm39) C24* probably null Het
Fmn1 A G 2: 113,194,648 (GRCm39) E116G unknown Het
Gnas A G 2: 174,139,655 (GRCm39) M1V probably null Het
Grin2a C A 16: 9,397,404 (GRCm39) M894I probably benign Het
Herc2 G T 7: 55,878,253 (GRCm39) S4566I probably benign Het
Hmcn1 G A 1: 150,631,044 (GRCm39) P918L probably damaging Het
Hmcn1 G T 1: 150,631,045 (GRCm39) P918T probably damaging Het
Hsd3b2 T A 3: 98,619,372 (GRCm39) Y191F possibly damaging Het
Ifit1bl2 A C 19: 34,597,217 (GRCm39) F133C possibly damaging Het
Itih2 T C 2: 10,113,705 (GRCm39) probably benign Het
Itsn1 T C 16: 91,649,899 (GRCm39) L191P probably benign Het
Kdr T C 5: 76,105,026 (GRCm39) K1068R probably damaging Het
Lmtk2 T C 5: 144,119,574 (GRCm39) L1345P probably damaging Het
Man2b2 T A 5: 36,966,385 (GRCm39) D936V probably damaging Het
Mapk1ip1 G A 7: 138,438,317 (GRCm39) R38* probably null Het
Med13l T C 5: 118,859,551 (GRCm39) V246A possibly damaging Het
Mlec T A 5: 115,286,108 (GRCm39) T248S probably benign Het
Mslnl T A 17: 25,956,876 (GRCm39) V54D possibly damaging Het
Muc16 G A 9: 18,568,508 (GRCm39) T1337I unknown Het
Nek7 C T 1: 138,443,392 (GRCm39) S187N probably damaging Het
Neto2 A G 8: 86,367,214 (GRCm39) V538A probably benign Het
Nktr T C 9: 121,579,202 (GRCm39) probably benign Het
Npy6r A G 18: 44,409,559 (GRCm39) K327E probably damaging Het
Or2ag1 A G 7: 106,472,789 (GRCm39) I221T probably damaging Het
Or3a1c A G 11: 74,046,396 (GRCm39) M139V possibly damaging Het
Or4a72 T C 2: 89,406,016 (GRCm39) D18G probably benign Het
Or4c123 T A 2: 89,127,368 (GRCm39) D82V probably damaging Het
Or5b109 A T 19: 13,211,889 (GRCm39) I92F probably benign Het
Pcdhga4 A T 18: 37,820,478 (GRCm39) N676Y probably damaging Het
Pde2a T C 7: 101,152,086 (GRCm39) I331T possibly damaging Het
Pip5k1b A T 19: 24,281,399 (GRCm39) Y486* probably null Het
Plch2 A G 4: 155,085,275 (GRCm39) M272T probably benign Het
Rbm12 G A 2: 155,939,646 (GRCm39) probably benign Het
Rgs19 T C 2: 181,331,300 (GRCm39) E111G probably damaging Het
Rhbdf1 T C 11: 32,160,066 (GRCm39) N145S probably damaging Het
Rnf4 T A 5: 34,508,565 (GRCm39) probably null Het
Rpa1 T C 11: 75,205,737 (GRCm39) T207A probably damaging Het
Rufy4 A C 1: 74,168,556 (GRCm39) Q113P probably damaging Het
Sh3pxd2b T G 11: 32,372,985 (GRCm39) S717R probably benign Het
Sin3a A T 9: 57,014,824 (GRCm39) I682F probably damaging Het
Sipa1l2 A T 8: 126,195,212 (GRCm39) V842E possibly damaging Het
Slc5a4a A G 10: 75,983,431 (GRCm39) I23V unknown Het
Slitrk5 A G 14: 111,919,157 (GRCm39) N927S probably benign Het
Smc6 A G 12: 11,326,354 (GRCm39) K117R possibly damaging Het
Sod2 G A 17: 13,226,918 (GRCm39) probably benign Het
Stxbp1 A G 2: 32,686,030 (GRCm39) I567T possibly damaging Het
Tbkbp1 C A 11: 97,038,206 (GRCm39) L209F probably damaging Het
Tll1 G T 8: 64,491,620 (GRCm39) probably null Het
Tmem38b T C 4: 53,840,765 (GRCm39) L60S probably damaging Het
Trib1 G A 15: 59,526,324 (GRCm39) R298H probably damaging Het
Trim30b A G 7: 104,015,349 (GRCm39) V13A probably damaging Het
Trip11 G A 12: 101,856,001 (GRCm39) T425I probably benign Het
Ttn C A 2: 76,720,317 (GRCm39) probably benign Het
Tymp GC GCC 15: 89,258,567 (GRCm39) probably null Het
Ush2a T A 1: 187,999,220 (GRCm39) S177T probably damaging Het
Usp40 A T 1: 87,906,281 (GRCm39) S651R probably benign Het
Vmn1r125 T C 7: 21,006,644 (GRCm39) S181P probably damaging Het
Vmn1r198 T A 13: 22,538,928 (GRCm39) V138D possibly damaging Het
Vmn1r56 A G 7: 5,199,317 (GRCm39) L100P probably damaging Het
Vmn2r32 T A 7: 7,467,209 (GRCm39) D773V probably benign Het
Vmn2r53 A C 7: 12,315,808 (GRCm39) H670Q probably benign Het
Vmn2r69 A T 7: 85,055,711 (GRCm39) I809N probably damaging Het
Wdr7 G A 18: 63,861,540 (GRCm39) G184D probably damaging Het
Wnk1 C T 6: 120,014,562 (GRCm39) G11D probably damaging Het
Zfp110 A C 7: 12,578,602 (GRCm39) E171A possibly damaging Het
Zkscan6 T C 11: 65,706,757 (GRCm39) V134A probably 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
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
R7037:Ahnak2 UTSW 12 112,740,712 (GRCm39) missense probably damaging 0.99
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'- TGAACTTGCTGTCTTTGGCC -3'
(R):5'- TCAAGATGCCCAAGGTGGAC -3'

Posted On 2017-07-14