Incidental Mutation 'R7508:Ahnak2'
ID 581911
Institutional Source Beutler Lab
Gene Symbol Ahnak2
Ensembl Gene ENSMUSG00000072812
Gene Name AHNAK nucleoprotein 2
Synonyms LOC382643
MMRRC Submission 045581-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R7508 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 112738631-112766278 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 112740839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 1078 (V1078I)
Ref Sequence ENSEMBL: ENSMUSP00000122404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101010] [ENSMUST00000128258]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000101010
AA Change: V272I

PolyPhen 2 Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000098572
Gene: ENSMUSG00000072812
AA Change: V272I

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: V1078I

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000122404
Gene: ENSMUSG00000072812
AA Change: V1078I

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: 99.0%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 C T 5: 50,174,209 (GRCm39) A110T probably benign Het
Adra1a A C 14: 66,875,384 (GRCm39) I120L probably damaging Het
Ccser1 A G 6: 61,547,707 (GRCm39) H590R probably benign Het
Cdh12 T G 15: 21,583,851 (GRCm39) L564V probably benign Het
Celsr3 T A 9: 108,713,821 (GRCm39) H1900Q probably benign Het
Clasp1 T A 1: 118,473,164 (GRCm39) M918K probably benign Het
Cmtm6 A G 9: 114,560,308 (GRCm39) E2G probably damaging Het
Ctsg A G 14: 56,337,998 (GRCm39) probably null Het
Cylc2 T A 4: 51,229,256 (GRCm39) probably null Het
Dna2 A G 10: 62,807,772 (GRCm39) probably null Het
Dnai1 G A 4: 41,614,323 (GRCm39) R333H probably benign Het
Egln3 T C 12: 54,227,414 (GRCm39) D239G probably benign Het
Eif1ad12 T C 12: 87,541,612 (GRCm39) M41T possibly damaging Het
Fam13a A T 6: 58,964,269 (GRCm39) D54E probably damaging Het
Fn1 A G 1: 71,636,675 (GRCm39) V2159A probably benign Het
Gcnt2 T A 13: 41,041,157 (GRCm39) F105L probably benign Het
Gpd1 G A 15: 99,619,967 (GRCm39) S255N probably damaging Het
Hacd4 A G 4: 88,355,715 (GRCm39) F57L probably benign Het
Helb T C 10: 119,941,188 (GRCm39) D500G probably benign Het
Ighv1-26 G A 12: 114,752,062 (GRCm39) S94F probably damaging Het
Kirrel1 T C 3: 86,990,746 (GRCm39) D692G possibly damaging Het
Klra7 A T 6: 130,207,054 (GRCm39) probably null Het
Lyl1 T C 8: 85,430,929 (GRCm39) V277A probably benign Het
Mon2 A C 10: 122,859,844 (GRCm39) W811G probably damaging Het
Myo9b T C 8: 71,807,445 (GRCm39) L1627P probably benign Het
Neurl1b C G 17: 26,657,720 (GRCm39) H219Q probably benign Het
Odf4 A T 11: 68,813,249 (GRCm39) C218S possibly damaging Het
Or2b6 T A 13: 21,822,779 (GRCm39) I305F probably benign Het
Or8u3-ps A G 2: 85,952,282 (GRCm39) N5S possibly damaging Het
Pde5a A G 3: 122,611,679 (GRCm39) D571G probably damaging Het
Pgc A G 17: 48,045,111 (GRCm39) E343G probably benign Het
Pik3cd A G 4: 149,739,040 (GRCm39) F667L possibly damaging Het
Prf1 G A 10: 61,135,934 (GRCm39) R70H possibly damaging Het
Ptprb C T 10: 116,189,896 (GRCm39) Q1565* probably null Het
Rapgef4 T A 2: 72,036,077 (GRCm39) N523K probably benign Het
Rbm25 T C 12: 83,719,651 (GRCm39) L557P probably damaging Het
Rhobtb3 C T 13: 76,026,976 (GRCm39) V466I probably benign Het
Rnpep A G 1: 135,206,596 (GRCm39) V166A probably benign Het
Sgo2a A G 1: 58,056,954 (GRCm39) K1046R probably benign Het
Slc12a2 T C 18: 58,037,465 (GRCm39) V525A probably benign Het
Slc1a4 A T 11: 20,256,487 (GRCm39) I448N probably damaging Het
Slc29a4 C T 5: 142,704,261 (GRCm39) P305L probably benign Het
Slc9a5 T A 8: 106,089,885 (GRCm39) probably null Het
Spag16 A T 1: 69,926,679 (GRCm39) N258I possibly damaging Het
Sspo T A 6: 48,443,633 (GRCm39) L2076Q probably damaging Het
Taok1 T A 11: 77,436,152 (GRCm39) H704L probably damaging Het
Tbc1d9b T C 11: 50,035,947 (GRCm39) F148L probably damaging Het
Tm4sf1 A G 3: 57,202,176 (GRCm39) Y12H probably benign Het
Traj6 C T 14: 54,450,171 (GRCm39) T9M Het
Ttll4 A G 1: 74,726,418 (GRCm39) N672S possibly damaging Het
Ube3a T A 7: 58,953,437 (GRCm39) H790Q possibly damaging Het
Usp49 G A 17: 47,983,205 (GRCm39) R70Q probably benign Het
Vmn2r32 C T 7: 7,470,373 (GRCm39) V515M possibly damaging Het
Wars1 A G 12: 108,848,801 (GRCm39) S49P probably benign Het
Zbp1 T A 2: 173,049,604 (GRCm39) Q386L possibly damaging Het
Zfp369 T C 13: 65,427,087 (GRCm39) F10S unknown Het
Zfp512 C G 5: 31,630,883 (GRCm39) I408M possibly damaging Het
Zfp952 A G 17: 33,222,756 (GRCm39) I412V 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
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'- GAAGGCAAGCTTCCTGTTCTAG -3'
(R):5'- CACAGACTCAGGTCATCAGC -3'

Sequencing Primer
(F):5'- CAGCAGGGATATTTCCTCCTGG -3'
(R):5'- GTCATCAGCATCCCCTTGGAG -3'
Posted On 2019-10-17