Incidental Mutation 'R4831:Ahnak2'
ID 372835
Institutional Source Beutler Lab
Gene Symbol Ahnak2
Ensembl Gene ENSMUSG00000072812
Gene Name AHNAK nucleoprotein 2
Synonyms LOC382643
MMRRC Submission 042447-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R4831 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 112738631-112766278 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 112742183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Histidine at position 630 (D630H)
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
SMART Domains Protein: ENSMUSP00000098572
Gene: ENSMUSG00000072812

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 damaging
Transcript: ENSMUST00000128258
AA Change: D630H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122404
Gene: ENSMUSG00000072812
AA Change: D630H

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 99% (96/97)
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810408A11Rik C T 11: 69,791,403 (GRCm39) V59I possibly damaging Het
4930544M13Rik T G 13: 114,744,183 (GRCm39) noncoding transcript Het
Abca13 A T 11: 9,492,077 (GRCm39) K4373* probably null Het
Abtb2 A T 2: 103,513,820 (GRCm39) T410S probably benign Het
Adamts13 T C 2: 26,873,142 (GRCm39) probably null Het
Aox3 T C 1: 58,191,725 (GRCm39) S426P probably damaging Het
Atxn10 C T 15: 85,271,260 (GRCm39) S266F probably benign Het
B4galnt4 G T 7: 140,647,634 (GRCm39) M407I probably damaging Het
B4galnt4 T A 7: 140,644,470 (GRCm39) probably null Het
Bclaf1 T A 10: 20,197,872 (GRCm39) probably benign Het
C4b C T 17: 34,955,864 (GRCm39) probably null Het
Cdc42bpg T C 19: 6,361,365 (GRCm39) F297S probably damaging Het
Cdh10 A T 15: 19,013,664 (GRCm39) T755S probably benign Het
Ceacam12 T A 7: 17,811,305 (GRCm39) probably null Het
Cfap65 C A 1: 74,956,454 (GRCm39) V1042F possibly damaging Het
Cfap77 T C 2: 28,875,844 (GRCm39) I89V probably benign Het
Cfh T C 1: 140,014,125 (GRCm39) D688G probably benign Het
Clip1 C G 5: 123,721,664 (GRCm39) A1182P probably damaging Het
Cyp2b10 T A 7: 25,614,921 (GRCm39) Y309* probably null Het
Dcaf5 T C 12: 80,385,858 (GRCm39) E756G probably benign Het
Dctn1 A T 6: 83,176,753 (GRCm39) Q1231L possibly damaging Het
Dennd1c T A 17: 57,373,428 (GRCm39) R682* probably null Het
Eml6 C A 11: 29,727,052 (GRCm39) E1319* probably null Het
Erap1 T C 13: 74,838,766 (GRCm39) I904T probably damaging Het
Eri1 A T 8: 35,943,673 (GRCm39) I207N possibly damaging Het
Farp1 G A 14: 121,514,469 (GRCm39) A933T probably damaging Het
Fcna T A 2: 25,515,353 (GRCm39) Q210L probably benign Het
Fhad1 A T 4: 141,643,378 (GRCm39) probably null Het
Fut8 T G 12: 77,440,603 (GRCm39) Y197D probably damaging Het
Garem1 G A 18: 21,262,825 (GRCm39) T663I probably benign Het
Gfm2 T C 13: 97,301,546 (GRCm39) S450P probably damaging Het
Gstk1 T G 6: 42,222,938 (GRCm39) probably benign Het
Helz2 C T 2: 180,879,210 (GRCm39) A803T probably damaging Het
Igsf9 T A 1: 172,319,455 (GRCm39) I280N probably damaging Het
Klhl10 A G 11: 100,336,669 (GRCm39) K219E probably benign Het
L3mbtl4 T A 17: 68,768,558 (GRCm39) V222D probably damaging Het
Lrrc9 A T 12: 72,546,453 (GRCm39) N1214Y probably damaging Het
Ltbp2 C T 12: 84,840,414 (GRCm39) E1051K possibly damaging Het
Mettl17 T C 14: 52,122,440 (GRCm39) F13S probably benign Het
Mettl24 C A 10: 40,559,413 (GRCm39) A21D possibly damaging Het
Mfsd6l T A 11: 68,447,331 (GRCm39) C61S probably benign Het
Mob4 T G 1: 55,191,899 (GRCm39) D204E probably benign Het
Mtus1 C G 8: 41,536,189 (GRCm39) R509T probably damaging Het
Nlrp4a T A 7: 26,149,844 (GRCm39) F484I possibly damaging Het
Nsrp1 T C 11: 76,941,444 (GRCm39) N88S probably benign Het
Odad2 G T 18: 7,222,564 (GRCm39) H568Q possibly damaging Het
Or10d5 C T 9: 39,861,408 (GRCm39) V220I probably benign Het
Or2g25 T A 17: 37,970,969 (GRCm39) H85L probably benign Het
Or51b6b T C 7: 103,309,678 (GRCm39) T260A probably benign Het
Or6c2 T A 10: 129,362,449 (GRCm39) Y118N probably damaging Het
Parg A G 14: 31,924,408 (GRCm39) N69S probably benign Het
Pcdh9 A C 14: 94,125,377 (GRCm39) N264K probably damaging Het
Pcdhb22 G T 18: 37,653,615 (GRCm39) L694F probably damaging Het
Pcnt T C 10: 76,248,335 (GRCm39) E928G probably damaging Het
Pdzk1 G A 3: 96,775,751 (GRCm39) G373D probably benign Het
Pea15a A G 1: 172,026,740 (GRCm39) I89T probably damaging Het
Phc1 T A 6: 122,313,964 (GRCm39) probably benign Het
Pikfyve T A 1: 65,235,900 (GRCm39) C191S probably damaging Het
Pitpnm1 T A 19: 4,158,130 (GRCm39) D573E probably damaging Het
Pld5 A G 1: 176,102,450 (GRCm39) probably benign Het
Plscr2 A T 9: 92,173,130 (GRCm39) N89I possibly damaging Het
Pm20d2 A C 4: 33,179,293 (GRCm39) N315K probably damaging Het
Pnpla1 T A 17: 29,097,518 (GRCm39) M228K probably benign Het
Prim2 T C 1: 33,709,217 (GRCm39) probably benign Het
Ralgapa2 A G 2: 146,246,987 (GRCm39) probably benign Het
Rgs22 G T 15: 36,050,294 (GRCm39) H719N probably benign Het
Ror2 C T 13: 53,272,880 (GRCm39) D250N probably damaging Het
Saal1 A G 7: 46,349,071 (GRCm39) V281A probably benign Het
Selenof A T 3: 144,296,411 (GRCm39) K94N probably damaging Het
Slamf9 T A 1: 172,304,831 (GRCm39) C148* probably null Het
Slc4a7 T C 14: 14,772,699 (GRCm38) probably null Het
Slco1a5 A G 6: 142,180,431 (GRCm39) I657T probably benign Het
St3gal2 A T 8: 111,684,480 (GRCm39) H46L probably benign Het
Sucnr1 T G 3: 59,994,069 (GRCm39) M199R probably damaging Het
Taok1 T A 11: 77,444,500 (GRCm39) E525V probably null Het
Tbc1d10c T A 19: 4,235,445 (GRCm39) E298V probably damaging Het
Tll2 T A 19: 41,118,951 (GRCm39) H259L probably damaging Het
Tpcn1 A T 5: 120,691,554 (GRCm39) F300Y probably damaging Het
Uba6 T A 5: 86,279,197 (GRCm39) I642L probably benign Het
Ubqln5 T A 7: 103,778,829 (GRCm39) probably benign Het
Vmn1r27 A T 6: 58,192,827 (GRCm39) L9Q possibly damaging Het
Vmn2r100 C T 17: 19,741,672 (GRCm39) T128I probably benign Het
Vmn2r109 C T 17: 20,761,494 (GRCm39) G621D probably benign Het
Vmn2r49 C T 7: 9,720,352 (GRCm39) D380N probably benign Het
Vps13a C T 19: 16,655,356 (GRCm39) V1891I probably benign Het
Wbp2 G T 11: 115,971,463 (GRCm39) Y147* probably null Het
Wdr46 T A 17: 34,160,810 (GRCm39) N191K probably benign Het
Wdr46 T C 17: 34,168,373 (GRCm39) probably benign Het
Wnt2 A C 6: 18,023,285 (GRCm39) F121L probably benign Het
Xpnpep1 T A 19: 53,003,053 (GRCm39) D100V probably benign Het
Xpo4 T C 14: 57,827,559 (GRCm39) Y879C probably damaging Het
Zswim4 A T 8: 84,938,948 (GRCm39) V978D 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
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
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'- CTCAGTCTCAGACAGAACGTTTTC -3'
(R):5'- AGATGCCCAGCCTCAAGATG -3'

Sequencing Primer
(F):5'- GTCTCAGACAGAACGTTTTCAGACTC -3'
(R):5'- CTCAAGATGCCCAAGGTGGAC -3'
Posted On 2016-03-01