Incidental Mutation 'R7448:Ahnak2'
ID 577500
Institutional Source Beutler Lab
Gene Symbol Ahnak2
Ensembl Gene ENSMUSG00000072812
Gene Name AHNAK nucleoprotein 2
Synonyms LOC382643
MMRRC Submission 045523-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R7448 (G1)
Quality Score 222.009
Status Not validated
Chromosome 12
Chromosomal Location 112738631-112766278 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112746605 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 1242 (K1242E)
Ref Sequence ENSEMBL: ENSMUSP00000114522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000124526] [ENSMUST00000128258]
AlphaFold no structure available at present
Predicted Effect
SMART Domains Protein: ENSMUSP00000114522
Gene: ENSMUSG00000072812
AA Change: K1242E

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (117/117)
Allele List at MGI
Other mutations in this stock
Total: 119 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 T C 2: 155,360,186 (GRCm39) S54P probably damaging Het
Alpi T A 1: 87,029,257 (GRCm39) M1L possibly damaging Het
Atp2c1 C T 9: 105,329,982 (GRCm39) A283T probably damaging Het
Atp8b5 T G 4: 43,366,021 (GRCm39) M764R probably benign Het
B4galnt2 T A 11: 95,760,193 (GRCm39) H278L probably damaging Het
Bcl9l G T 9: 44,420,634 (GRCm39) A1347S probably benign Het
Bicd2 A G 13: 49,533,427 (GRCm39) E671G probably damaging Het
Bmp3 A T 5: 99,020,077 (GRCm39) I167F probably damaging Het
Bpifb5 T A 2: 154,072,105 (GRCm39) C271S possibly damaging Het
Camsap2 T A 1: 136,198,644 (GRCm39) H793L Het
Casp8ap2 T A 4: 32,643,974 (GRCm39) S1016T possibly damaging Het
Castor1 A G 11: 4,171,897 (GRCm39) S325G not run Het
Ccdc134 T A 15: 82,025,149 (GRCm39) I216N possibly damaging Het
Ccdc63 G T 5: 122,246,245 (GRCm39) R559S probably benign Het
Cd276 T C 9: 58,442,895 (GRCm39) T187A probably benign Het
Ciao1 C T 2: 127,087,678 (GRCm39) R219H probably damaging Het
Clmn T C 12: 104,751,687 (GRCm39) D256G possibly damaging Het
Cobl A C 11: 12,206,225 (GRCm39) M550R possibly damaging Het
Cracr2b A T 7: 141,044,118 (GRCm39) T117S probably benign Het
Cx3cr1 G A 9: 119,881,282 (GRCm39) A40V probably benign Het
Cxcl14 A G 13: 56,440,344 (GRCm39) C72R probably damaging Het
Dab2 T A 15: 6,451,747 (GRCm39) I121N probably damaging Het
Dapk1 A G 13: 60,898,990 (GRCm39) Y820C probably damaging Het
Dele1 A G 18: 38,390,319 (GRCm39) N256D probably damaging Het
Ech1 T A 7: 28,525,623 (GRCm39) C91S probably damaging Het
Exosc5 T G 7: 25,358,734 (GRCm39) V25G probably benign Het
Fbp1 A C 13: 63,020,564 (GRCm39) D122E possibly damaging Het
Fbxw13 A G 9: 109,014,471 (GRCm39) Y101H unknown Het
Fcsk C T 8: 111,616,963 (GRCm39) G396S possibly damaging Het
Fhip1a G A 3: 85,579,871 (GRCm39) S778L probably benign Het
Fmnl1 T A 11: 103,077,453 (GRCm39) V271E probably damaging Het
Galnt1 T A 18: 24,417,866 (GRCm39) S545T probably benign Het
Galnt13 G A 2: 54,406,576 (GRCm39) V9M possibly damaging Het
Gm7995 A T 14: 42,132,302 (GRCm39) I45F Het
Gpr137 C T 19: 6,917,726 (GRCm39) R134Q possibly damaging Het
Gpr22 T G 12: 31,759,514 (GRCm39) I203L probably benign Het
H2-Q10 T C 17: 35,784,457 (GRCm39) Y324H not run Het
Hcn4 G A 9: 58,751,582 (GRCm39) E403K unknown Het
Hddc2 T A 10: 31,189,412 (GRCm39) M1K probably null Het
Hps3 A G 3: 20,089,329 (GRCm39) F34S probably damaging Het
Ift56 T A 6: 38,381,422 (GRCm39) Y319* probably null Het
Igdcc4 G T 9: 65,031,276 (GRCm39) V405L possibly damaging Het
Itpr2 C A 6: 146,231,006 (GRCm39) V1215L probably damaging Het
Kif26b T C 1: 178,742,339 (GRCm39) S812P probably damaging Het
Lgi1 T A 19: 38,289,713 (GRCm39) C260S probably damaging Het
Lhfpl6 A G 3: 53,168,020 (GRCm39) Y198C probably damaging Het
Lrp5 T C 19: 3,699,439 (GRCm39) D282G probably benign Het
Lrpprc T C 17: 85,079,567 (GRCm39) T230A probably damaging Het
Lrtm2 A G 6: 119,297,784 (GRCm39) W86R probably benign Het
Maco1 A T 4: 134,555,590 (GRCm39) N294K possibly damaging Het
Magi2 G A 5: 20,563,954 (GRCm39) G199D probably damaging Het
Map1b C T 13: 99,644,648 (GRCm39) R85Q probably damaging Het
Marchf7 T A 2: 60,077,858 (GRCm39) probably null Het
Morc1 A G 16: 48,251,708 (GRCm39) D2G probably damaging Het
Mpp7 A T 18: 7,351,079 (GRCm39) F539L probably damaging Het
Muc13 A T 16: 33,634,951 (GRCm39) I502F probably damaging Het
Myh13 A G 11: 67,255,286 (GRCm39) probably null Het
Nat10 C G 2: 103,578,390 (GRCm39) L238F probably damaging Het
Nckap1 G A 2: 80,354,885 (GRCm39) T679I probably damaging Het
Npy6r T A 18: 44,409,260 (GRCm39) I227N probably damaging Het
Nudt18 A T 14: 70,815,389 (GRCm39) M1L unknown Het
Or13d1 T A 4: 52,971,207 (GRCm39) N195K probably damaging Het
Or14a257 G A 7: 86,138,417 (GRCm39) T114I probably damaging Het
Or4f14 T A 2: 111,742,637 (GRCm39) I213L probably benign Het
Or8d1 C A 9: 38,766,412 (GRCm39) T18K probably damaging Het
Or8u8 T C 2: 86,011,678 (GRCm39) Y259C probably damaging Het
Pcdha3 T A 18: 37,079,266 (GRCm39) F3I probably benign Het
Pcdhga3 T A 18: 37,808,917 (GRCm39) Y457N possibly damaging Het
Pclo A T 5: 14,719,631 (GRCm39) Q1256L unknown Het
Piezo2 C T 18: 63,157,543 (GRCm39) R2389H probably damaging Het
Pml G T 9: 58,154,496 (GRCm39) Q126K probably benign Het
Ppef2 A G 5: 92,376,563 (GRCm39) Y655H probably damaging Het
Ppp4r1 T C 17: 66,147,936 (GRCm39) V926A probably damaging Het
Psg29 A G 7: 16,945,648 (GRCm39) D406G possibly damaging Het
Ptprf T C 4: 118,092,864 (GRCm39) D517G probably benign Het
Ptprg G A 14: 12,142,461 (GRCm38) E371K probably benign Het
Pttg1ip2 T C 5: 5,505,952 (GRCm39) I110V probably benign Het
Rasgrp1 T C 2: 117,118,424 (GRCm39) I522V probably damaging Het
Rasgrp1 T A 2: 117,122,178 (GRCm39) D404V possibly damaging Het
Rb1cc1 T A 1: 6,315,727 (GRCm39) F541I probably damaging Het
Rgsl1 C A 1: 153,719,847 (GRCm39) probably null Het
Rhobtb2 C T 14: 70,033,397 (GRCm39) W524* probably null Het
Rhox4d G A X: 36,700,645 (GRCm39) G191E unknown Het
Rims1 A G 1: 22,474,699 (GRCm39) S211P Het
Ripor2 A T 13: 24,854,054 (GRCm39) Q54L possibly damaging Het
Rnf213 A G 11: 119,372,117 (GRCm39) I4903V Het
Robo3 T A 9: 37,336,111 (GRCm39) I452F possibly damaging Het
Rpl27rt A G 18: 34,870,580 (GRCm39) K38R probably damaging Het
Seh1l C T 18: 67,916,988 (GRCm39) H56Y probably damaging Het
Sema3b T A 9: 107,480,162 (GRCm39) D192V probably damaging Het
Sidt1 A T 16: 44,106,763 (GRCm39) C222* probably null Het
Skor1 A G 9: 63,053,385 (GRCm39) F195L probably damaging Het
Slc44a2 A C 9: 21,259,642 (GRCm39) K596N possibly damaging Het
Smgc A G 15: 91,729,696 (GRCm39) K217E probably benign Het
Socs7 C A 11: 97,267,917 (GRCm39) H349Q possibly damaging Het
Speer4f2 A G 5: 17,581,540 (GRCm39) T161A Het
Spg11 T C 2: 121,924,026 (GRCm39) probably null Het
Ssb A G 2: 69,693,624 (GRCm39) T11A probably benign Het
Sun1 A G 5: 139,232,589 (GRCm39) S837G probably damaging Het
Szt2 A C 4: 118,220,668 (GRCm39) S3385A unknown Het
Tapbp T C 17: 34,139,391 (GRCm39) V129A possibly damaging Het
Thsd1 T C 8: 22,733,349 (GRCm39) I132T possibly damaging Het
Tm6sf2 T A 8: 70,530,589 (GRCm39) V223E possibly damaging Het
Tm9sf4 T A 2: 153,036,267 (GRCm39) M343K probably benign Het
Trank1 C A 9: 111,195,417 (GRCm39) P1147Q probably benign Het
Trip4 G A 9: 65,773,757 (GRCm39) T275M probably damaging Het
Tsen34 T C 7: 3,698,834 (GRCm39) probably null Het
Ttn T C 2: 76,680,422 (GRCm39) E1086G unknown Het
Ubr4 A T 4: 139,189,778 (GRCm39) M853L unknown Het
Ubxn11 A T 4: 133,852,466 (GRCm39) R352W probably damaging Het
Vmn1r35 G A 6: 66,656,219 (GRCm39) probably benign Het
Vmn2r107 C T 17: 20,595,994 (GRCm39) T849I probably benign Het
Vmn2r93 C A 17: 18,546,248 (GRCm39) L707I probably benign Het
Wwc1 G A 11: 35,766,533 (GRCm39) T574I probably benign Het
Zfp143 A G 7: 109,669,705 (GRCm39) M45V probably benign Het
Zfp518a T A 19: 40,902,601 (GRCm39) N843K possibly damaging Het
Zfp87 A T 13: 67,665,163 (GRCm39) M433K probably benign Het
Zfp873 C A 10: 81,896,461 (GRCm39) H397Q probably damaging Het
Zscan21 A T 5: 138,116,110 (GRCm39) probably benign 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
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
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'- GAACTTGCTGTCTTTGGCC -3'
(R):5'- TTCAAGATGCCCTCCTTCGG -3'

Sequencing Primer
(F):5'- TGGATGTCCACCTCCACG -3'
(R):5'- CCCTCCTTCGGCGTGTC -3'
Posted On 2019-10-07