Incidental Mutation 'R8114:Ahnak2'
ID 631077
Institutional Source Beutler Lab
Gene Symbol Ahnak2
Ensembl Gene ENSMUSG00000072812
Gene Name AHNAK nucleoprotein 2
Synonyms LOC382643
MMRRC Submission 067543-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R8114 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 112738631-112766278 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112741163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 970 (T970A)
Ref Sequence ENSEMBL: ENSMUSP00000122404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101010] [ENSMUST00000128258]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000101010
AA Change: T164A

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000098572
Gene: ENSMUSG00000072812
AA Change: T164A

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 probably benign
Transcript: ENSMUST00000128258
AA Change: T970A

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000122404
Gene: ENSMUSG00000072812
AA Change: T970A

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: 99.8%
  • 3x: 99.5%
  • 10x: 98.5%
  • 20x: 94.7%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630010A05Rik G T 16: 14,407,091 (GRCm39) E7* probably null Het
Abca7 T C 10: 79,844,874 (GRCm39) I1532T probably damaging Het
Adam12 T C 7: 133,569,617 (GRCm39) D286G probably damaging Het
Apcdd1 A G 18: 63,083,127 (GRCm39) N319S probably damaging Het
Arih1 A G 9: 59,303,836 (GRCm39) M423T probably benign Het
Ccdc110 A T 8: 46,396,140 (GRCm39) Q677L probably damaging Het
Ccdc121rt3 C A 5: 112,503,563 (GRCm39) R47L probably benign Het
Ccdc171 A G 4: 83,614,537 (GRCm39) N1046S probably damaging Het
Ccdc63 G T 5: 122,251,244 (GRCm39) Q389K possibly damaging Het
Cd274 T C 19: 29,361,528 (GRCm39) S279P probably damaging Het
Cdcp2 A T 4: 106,962,555 (GRCm39) I243F probably damaging Het
Cfap298 T C 16: 90,731,545 (GRCm39) T22A probably benign Het
Cul2 A T 18: 3,426,164 (GRCm39) K414* probably null Het
Daglb A G 5: 143,464,218 (GRCm39) H243R probably benign Het
Dnah5 A T 15: 28,240,122 (GRCm39) Y493F probably benign Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Eea1 G T 10: 95,830,851 (GRCm39) E171* probably null Het
Eml6 C T 11: 29,704,910 (GRCm39) G1545R probably damaging Het
Epg5 A G 18: 78,073,365 (GRCm39) I2463V probably benign Het
Fgl1 A G 8: 41,644,620 (GRCm39) Y295H probably damaging Het
Frrs1 A G 3: 116,675,425 (GRCm39) T118A probably damaging Het
Gdi2 T C 13: 3,598,906 (GRCm39) V30A probably damaging Het
Ints4 A G 7: 97,165,732 (GRCm39) probably null Het
Iqsec3 A G 6: 121,390,458 (GRCm39) S338P unknown Het
Klhl3 C T 13: 58,161,677 (GRCm39) V473M possibly damaging Het
Ldah A G 12: 8,334,039 (GRCm39) E310G probably damaging Het
Mtnr1b A G 9: 15,785,563 (GRCm39) V65A probably damaging Het
Myo7b G T 18: 32,098,677 (GRCm39) T1735K probably damaging Het
Neb A T 2: 52,215,734 (GRCm39) V191D possibly damaging Het
Oas1e T C 5: 120,924,708 (GRCm39) T377A unknown Het
Odr4 A T 1: 150,264,308 (GRCm39) L67* probably null Het
Or10al6 T C 17: 38,082,880 (GRCm39) F112S possibly damaging Het
Or10v9 G A 19: 11,832,466 (GRCm39) P284S probably damaging Het
Or8k53 A T 2: 86,177,530 (GRCm39) H193Q probably benign Het
Platr25 T C 13: 62,821,738 (GRCm39) S70G possibly damaging Het
Plcl2 T C 17: 50,994,815 (GRCm39) S1095P probably damaging Het
Polq A G 16: 36,862,577 (GRCm39) K637E possibly damaging Het
Rbm47 T C 5: 66,184,196 (GRCm39) I136V probably benign Het
Serpinb3c A C 1: 107,204,034 (GRCm39) N59K probably benign Het
Shcbp1 T A 8: 4,817,930 (GRCm39) N122Y probably damaging Het
Sim2 T C 16: 93,923,503 (GRCm39) V347A probably benign Het
Slc22a30 A T 19: 8,381,904 (GRCm39) Y122* probably null Het
Slc34a2 G A 5: 53,225,701 (GRCm39) S450N probably benign Het
Snx17 A T 5: 31,355,046 (GRCm39) M354L probably benign Het
Stard9 G A 2: 120,534,911 (GRCm39) G3723S probably benign Het
Surf6 G A 2: 26,782,380 (GRCm39) Q316* probably null Het
Tiprl A G 1: 165,055,991 (GRCm39) S44P probably benign Het
Tmem39a T G 16: 38,411,359 (GRCm39) L438R probably damaging Het
Tmem39a C A 16: 38,411,358 (GRCm39) L438M probably damaging Het
Tns2 G C 15: 102,019,825 (GRCm39) V572L probably benign Het
Trdn T C 10: 32,959,624 (GRCm39) probably benign Het
Trpc7 T C 13: 56,952,411 (GRCm39) I587V probably benign Het
Usp47 A G 7: 111,692,394 (GRCm39) D952G probably damaging Het
Vmn2r58 A T 7: 41,511,392 (GRCm39) N470K probably damaging Het
Vmn2r67 A T 7: 84,805,097 (GRCm39) I5N probably benign Het
Wdfy4 G A 14: 32,826,072 (GRCm39) P1193L Het
Ythdc2 A G 18: 45,010,807 (GRCm39) D1272G probably benign Het
Zfp959 A G 17: 56,205,496 (GRCm39) Y511C 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
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
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'- ACCTTGGACTCAGGCACATG -3'
(R):5'- TTGGTTAGGTCCAAAACTGAGC -3'

Sequencing Primer
(F):5'- CTCCAAGGGGATGCTGATGAC -3'
(R):5'- AGGTCCAAAACTGAGCTTCCTTC -3'
Posted On 2020-06-30