Incidental Mutation 'R9055:Ahnak2'
ID 688645
Institutional Source Beutler Lab
Gene Symbol Ahnak2
Ensembl Gene ENSMUSG00000072812
Gene Name AHNAK nucleoprotein 2
Synonyms LOC382643
MMRRC Submission 068881-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R9055 (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 112741019 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 1018 (A1018T)
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: A212T

PolyPhen 2 Score 0.649 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000098572
Gene: ENSMUSG00000072812
AA Change: A212T

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: A1018T

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122404
Gene: ENSMUSG00000072812
AA Change: A1018T

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
Meta Mutation Damage Score 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 97% (68/70)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 T A 19: 57,030,398 (GRCm39) T753S probably benign Het
Acy3 A G 19: 4,038,178 (GRCm39) E157G probably benign Het
Adamts20 A G 15: 94,181,867 (GRCm39) Y1609H probably damaging Het
Ahsg T A 16: 22,711,069 (GRCm39) W69R possibly damaging Het
Alox12 T G 11: 70,143,903 (GRCm39) D159A probably damaging Het
Alox12b C G 11: 69,054,884 (GRCm39) P296A possibly damaging Het
Ankrd17 T C 5: 90,380,168 (GRCm39) I2507V probably benign Het
Apeh T C 9: 107,963,045 (GRCm39) M670V possibly damaging Het
Aqp12 C T 1: 92,934,627 (GRCm39) A168V probably benign Het
Ceacam1 A T 7: 25,171,299 (GRCm39) D388E probably damaging Het
Clp1 A T 2: 84,554,266 (GRCm39) I301N probably damaging Het
Cntn3 A G 6: 102,244,398 (GRCm39) F384L probably benign Het
Dnpep A T 1: 75,291,805 (GRCm39) M238K possibly damaging Het
Dync2h1 A T 9: 6,996,641 (GRCm39) probably benign Het
Edc3 T A 9: 57,623,360 (GRCm39) N98K probably benign Het
Egr3 T A 14: 70,316,349 (GRCm39) N15K probably damaging Het
Fbxo25 T A 8: 13,965,023 (GRCm39) C25S possibly damaging Het
Fgd4 T A 16: 16,240,494 (GRCm39) D745V possibly damaging Het
Flnb T A 14: 7,908,553 (GRCm38) D1310E probably benign Het
Ggnbp2 A G 11: 84,732,448 (GRCm39) F215S probably damaging Het
Gm1979 C T 5: 26,207,032 (GRCm39) R107Q probably benign Het
Gm4847 T A 1: 166,467,677 (GRCm39) H173L probably damaging Het
Gmeb1 A T 4: 131,964,425 (GRCm39) L146H probably damaging Het
Gpr88 A G 3: 116,046,300 (GRCm39) S4P unknown Het
Gucy1a1 A G 3: 82,016,433 (GRCm39) L185P possibly damaging Het
Hsd3b6 G T 3: 98,713,984 (GRCm39) T105N probably damaging Het
Iqca1 T C 1: 89,998,335 (GRCm39) Y546C probably benign Het
Irf1 T A 11: 53,667,196 (GRCm39) I305N probably benign Het
Itgb3 G A 11: 104,556,451 (GRCm39) W764* probably null Het
Klra8 G T 6: 130,096,017 (GRCm39) R192S probably benign Het
Krt79 T A 15: 101,839,922 (GRCm39) I358F probably damaging Het
Mettl4 T C 17: 95,047,843 (GRCm39) D266G possibly damaging Het
Mfsd8 G A 3: 40,786,493 (GRCm39) A219V probably benign Het
Mgam G A 6: 40,691,663 (GRCm39) probably benign Het
Nek9 A T 12: 85,348,616 (GRCm39) C973S probably damaging Het
Or2k2 G T 4: 58,785,374 (GRCm39) A116E possibly damaging Het
Or4f15 A T 2: 111,814,049 (GRCm39) Y123* probably null Het
Or8c13 T C 9: 38,091,780 (GRCm39) Y113C probably damaging Het
Ostc T A 3: 130,503,020 (GRCm39) E2V probably damaging Het
Ostc C A 3: 130,503,021 (GRCm39) E2* probably null Het
Pcdhb8 T A 18: 37,490,585 (GRCm39) C754* probably null Het
Polr1a A G 6: 71,892,053 (GRCm39) T111A possibly damaging Het
Prep C T 10: 44,991,291 (GRCm39) T319M probably benign Het
Reg3b A C 6: 78,349,886 (GRCm39) D142A possibly damaging Het
Retsat A G 6: 72,583,936 (GRCm39) D537G probably benign Het
Rnf2 G A 1: 151,352,030 (GRCm39) L109F probably damaging Het
Rskr A G 11: 78,184,373 (GRCm39) D240G probably damaging Het
Runx3 G T 4: 134,902,656 (GRCm39) R262L probably damaging Het
Rwdd3 G T 3: 120,952,871 (GRCm39) T112K probably benign Het
Scfd2 T C 5: 74,691,931 (GRCm39) H117R possibly damaging Het
Scn10a C T 9: 119,451,958 (GRCm39) V1321M probably damaging Het
Sec31a T C 5: 100,534,040 (GRCm39) E119G possibly damaging Het
Skint6 C A 4: 113,095,347 (GRCm39) G104V probably damaging Het
Slc18a1 T A 8: 69,520,823 (GRCm39) I199F possibly damaging Het
St18 C T 1: 6,873,206 (GRCm39) R314* probably null Het
Sucla2 T G 14: 73,819,068 (GRCm39) probably benign Het
Sulf1 A T 1: 12,878,187 (GRCm39) H225L probably damaging Het
Tas2r140 A G 6: 133,032,380 (GRCm39) V126A possibly damaging Het
Tcp10b T C 17: 13,281,828 (GRCm39) I66T probably damaging Het
Tmem45a2 T C 16: 56,861,115 (GRCm39) I237M probably benign Het
Traf3ip1 C T 1: 91,428,733 (GRCm39) R167* probably null Het
Trav17 T G 14: 54,044,320 (GRCm39) V30G probably damaging Het
Vmn1r54 A G 6: 90,246,100 (GRCm39) N5D probably benign Het
Vmn2r81 A G 10: 79,110,441 (GRCm39) H518R probably benign Het
Washc3 A G 10: 88,051,916 (GRCm39) T102A probably benign Het
Xaf1 A G 11: 72,194,266 (GRCm39) H49R probably damaging Het
Zfp1001 G A 2: 150,165,753 (GRCm39) probably benign Het
Zfp276 T C 8: 123,985,109 (GRCm39) F356L probably damaging Het
Zfp398 G T 6: 47,843,319 (GRCm39) R457L possibly damaging Het
Zfp512 G T 5: 31,637,533 (GRCm39) E541* probably null 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
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'- TCTGCATACGTTGGGCTCTC -3'
(R):5'- TCTGCAAGTCAGCCCTTTG -3'

Sequencing Primer
(F):5'- CATACGTTGGGCTCTCTACGG -3'
(R):5'- TTTGGGGAACTGGTACCACC -3'
Posted On 2021-11-19