Incidental Mutation 'R9711:Ahnak2'
ID 730191
Institutional Source Beutler Lab
Gene Symbol Ahnak2
Ensembl Gene ENSMUSG00000072812
Gene Name AHNAK nucleoprotein 2
Synonyms LOC382643
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R9711 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 112738631-112766278 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112739468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1535 (S1535P)
Ref Sequence ENSEMBL: ENSMUSP00000122404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063888] [ENSMUST00000101010] [ENSMUST00000128258]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000063888
SMART Domains Protein: ENSMUSP00000067002
Gene: ENSMUSG00000052160

DomainStartEndE-ValueType
transmembrane domain 35 57 N/A INTRINSIC
low complexity region 113 124 N/A INTRINSIC
PLDc 207 234 1.64e-10 SMART
Pfam:PLDc_3 237 414 5.5e-41 PFAM
PLDc 421 447 4.66e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000101010
AA Change: S729P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000098572
Gene: ENSMUSG00000072812
AA Change: S729P

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: S1535P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000122404
Gene: ENSMUSG00000072812
AA Change: S1535P

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 T C 8: 87,275,388 (GRCm39) D430G probably damaging Het
Adgrf1 T C 17: 43,621,580 (GRCm39) S606P possibly damaging Het
Afap1 A G 5: 36,141,540 (GRCm39) N475D probably damaging Het
Akt1 G T 12: 112,624,885 (GRCm39) H194N possibly damaging Het
Api5 T A 2: 94,251,812 (GRCm39) Q396L possibly damaging Het
Aplp2 T C 9: 31,083,303 (GRCm39) N148S probably benign Het
Asb3 A G 11: 31,031,400 (GRCm39) Y340C probably damaging Het
Bbox1 A T 2: 110,098,581 (GRCm39) M332K probably damaging Het
Cabin1 A T 10: 75,579,090 (GRCm39) S449T probably benign Het
Carns1 A G 19: 4,216,007 (GRCm39) V725A possibly damaging Het
Cdkn1b A G 6: 134,898,058 (GRCm39) K59R possibly damaging Het
Cdv3 A T 9: 103,233,539 (GRCm39) I212K probably damaging Het
Clec14a T A 12: 58,314,432 (GRCm39) I397F probably damaging Het
Cnnm1 A G 19: 43,483,469 (GRCm39) I950V possibly damaging Het
Ddi2 A G 4: 141,422,734 (GRCm39) M326T probably benign Het
Dhx30 T C 9: 109,914,103 (GRCm39) T1065A probably benign Het
Eif3c A T 7: 126,146,674 (GRCm39) M808K possibly damaging Het
Evi2 G T 11: 79,406,971 (GRCm39) H201Q possibly damaging Het
Exoc4 A G 6: 33,452,991 (GRCm39) T494A unknown Het
Fam83f T A 15: 80,574,819 (GRCm39) M242K probably damaging Het
Fat4 T C 3: 39,055,374 (GRCm39) Y4198H probably benign Het
Fcgbp C A 7: 27,793,000 (GRCm39) N1001K probably benign Het
Gda G T 19: 21,400,449 (GRCm39) A164E probably damaging Het
Gm19410 T C 8: 36,279,493 (GRCm39) V1786A possibly damaging Het
Gm45871 A G 18: 90,609,069 (GRCm39) N82S probably benign Het
Gnas T A 2: 174,141,392 (GRCm39) S580T unknown Het
Gprin1 G A 13: 54,886,714 (GRCm39) P520L probably benign Het
Gramd4 C T 15: 86,014,751 (GRCm39) R433C probably damaging Het
Ighv5-12 T A 12: 113,665,958 (GRCm39) T47S probably benign Het
Itprid1 T G 6: 55,864,018 (GRCm39) S115A probably damaging Het
Kdm5a T A 6: 120,367,658 (GRCm39) L451Q probably damaging Het
Kif12 T A 4: 63,084,126 (GRCm39) R624S probably benign Het
Lepr T A 4: 101,592,851 (GRCm39) Y155* probably null Het
Lnx2 T A 5: 146,961,376 (GRCm39) I519F probably damaging Het
Marchf7 T A 2: 60,060,175 (GRCm39) S101T probably damaging Het
Miox A G 15: 89,220,785 (GRCm39) D230G probably damaging Het
Morc2a T A 11: 3,600,381 (GRCm39) M1K probably null Het
Mtus1 T C 8: 41,536,222 (GRCm39) N498S probably damaging Het
Mxd1 T A 6: 86,645,554 (GRCm39) R46W probably damaging Het
Ndufa11 G C 17: 57,024,843 (GRCm39) A2P possibly damaging Het
Necab2 C T 8: 120,198,513 (GRCm39) H362Y probably damaging Het
Nphp4 G A 4: 152,623,434 (GRCm39) V703I possibly damaging Het
Nup54 T C 5: 92,582,218 (GRCm39) N31S unknown Het
Or13a23-ps1 T A 7: 140,118,497 (GRCm39) S22R probably benign Het
Or1ad6 T C 11: 50,860,316 (GRCm39) L157P probably damaging Het
Or1e34 A T 11: 73,778,696 (GRCm39) C167* probably null Het
Or8b4 A C 9: 37,830,066 (GRCm39) T38P probably damaging Het
P2rx2 T C 5: 110,490,388 (GRCm39) E109G possibly damaging Het
Pcdha7 T C 18: 37,107,409 (GRCm39) S145P probably damaging Het
Pdlim5 A T 3: 141,948,529 (GRCm39) V586E probably damaging Het
Pex5l T C 3: 33,136,204 (GRCm39) E5G probably benign Het
Plch1 T A 3: 63,615,176 (GRCm39) D774V probably damaging Het
Plekhg3 A T 12: 76,611,726 (GRCm39) D335V possibly damaging Het
Pop1 A G 15: 34,530,227 (GRCm39) H905R probably benign Het
Ppm1k T C 6: 57,492,720 (GRCm39) T189A probably damaging Het
Pramel13 A G 4: 144,122,517 (GRCm39) L9P probably damaging Het
Recql5 A G 11: 115,784,367 (GRCm39) V911A probably damaging Het
Rnf145 T A 11: 44,415,830 (GRCm39) L15* probably null Het
Rpl13a A G 7: 44,776,673 (GRCm39) V29A probably benign Het
Rps6ka5 A G 12: 100,540,250 (GRCm39) V491A probably benign Het
Setbp1 T C 18: 78,900,142 (GRCm39) H1175R probably benign Het
Setd5 T C 6: 113,093,063 (GRCm39) S372P probably damaging Het
Slc1a3 T C 15: 8,675,177 (GRCm39) E276G probably damaging Het
Slc36a2 T C 11: 55,070,169 (GRCm39) N136S probably benign Het
Spag1 G A 15: 36,190,683 (GRCm39) probably null Het
Spon1 A C 7: 113,387,685 (GRCm39) T81P probably damaging Het
Sv2b A T 7: 74,856,238 (GRCm39) D17E probably benign Het
Tasor2 A G 13: 3,649,667 (GRCm39) V44A probably benign Het
Tax1bp1 C T 6: 52,704,215 (GRCm39) T65I probably damaging Het
Tenm2 C A 11: 35,915,341 (GRCm39) K2065N probably damaging Het
Ticam2 T C 18: 46,693,658 (GRCm39) D143G probably damaging Het
Tmem132d T C 5: 127,869,579 (GRCm39) E585G possibly damaging Het
Tnfrsf8 C T 4: 145,019,668 (GRCm39) probably null Het
Trim44 C T 2: 102,230,813 (GRCm39) G73R unknown Het
Trpc3 C T 3: 36,692,713 (GRCm39) D760N possibly damaging Het
Tspan9 T A 6: 127,942,715 (GRCm39) M171L probably benign Het
Ugt2b37 A G 5: 87,402,532 (GRCm39) F33S possibly damaging Het
Vav2 A T 2: 27,159,027 (GRCm39) V734E probably damaging Het
Vmn1r214 A G 13: 23,218,508 (GRCm39) M1V probably null Het
Vmn1r24 A T 6: 57,932,804 (GRCm39) V238E probably damaging Het
Vmn2r107 A G 17: 20,577,262 (GRCm39) Q420R probably damaging Het
Vmn2r31 G A 7: 7,387,085 (GRCm39) P829S probably damaging Het
Xpo6 A G 7: 125,712,873 (GRCm39) F703L probably benign Het
Zfp442 T A 2: 150,250,207 (GRCm39) H565L possibly damaging Het
Zfp950 A T 19: 61,116,000 (GRCm39) D2E probably damaging Het
Zfp992 T A 4: 146,551,345 (GRCm39) S355R probably damaging Het
Zwilch A T 9: 64,063,303 (GRCm39) F309Y 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
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
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
Z1177:Ahnak2 UTSW 12 112,745,822 (GRCm39) missense
Predicted Primers
Posted On 2022-10-06