Incidental Mutation 'R0310:Alpk3'
ID 25161
Institutional Source Beutler Lab
Gene Symbol Alpk3
Ensembl Gene ENSMUSG00000038763
Gene Name alpha-kinase 3
Synonyms Midori
MMRRC Submission 038520-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.355) question?
Stock # R0310 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 80707348-80755360 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 80728358 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Arginine at position 496 (P496R)
Ref Sequence ENSEMBL: ENSMUSP00000102971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107348]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000107348
AA Change: P496R

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763
AA Change: P496R

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
low complexity region 48 62 N/A INTRINSIC
IGc2 89 159 2.78e-11 SMART
low complexity region 183 192 N/A INTRINSIC
low complexity region 400 427 N/A INTRINSIC
low complexity region 514 532 N/A INTRINSIC
low complexity region 586 598 N/A INTRINSIC
low complexity region 958 971 N/A INTRINSIC
low complexity region 1048 1058 N/A INTRINSIC
low complexity region 1076 1087 N/A INTRINSIC
IG_like 1264 1330 5.73e-2 SMART
low complexity region 1350 1359 N/A INTRINSIC
Alpha_kinase 1395 1592 1.17e-44 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.3%
  • 10x: 93.3%
  • 20x: 82.5%
Validation Efficiency 99% (113/114)
MGI Phenotype PHENOTYPE: Mice homozygous for a gene-trappped allele exhibit altered cardiomyocyte architecture and develop a non-progressive cardiomyopathy that presents features of both hypertrophic and dilated forms of cardiomyopathy, [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 109 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A C 9: 53,336,971 (GRCm39) T92P probably damaging Het
Abca13 T C 11: 9,243,810 (GRCm39) V1891A probably benign Het
Abcc1 T A 16: 14,228,791 (GRCm39) I346N probably damaging Het
Afdn G T 17: 14,105,770 (GRCm39) probably null Het
Ahrr G A 13: 74,431,143 (GRCm39) probably benign Het
Akap13 A G 7: 75,264,678 (GRCm39) D507G probably damaging Het
Akap8 A T 17: 32,535,234 (GRCm39) M260K possibly damaging Het
Akr1b8 T C 6: 34,342,194 (GRCm39) V265A probably benign Het
Ankrd13b A G 11: 77,363,571 (GRCm39) V249A possibly damaging Het
Arid4a T C 12: 71,122,604 (GRCm39) V995A probably benign Het
Ascc3 G T 10: 50,625,022 (GRCm39) V1637L probably benign Het
Atad2 G A 15: 57,977,653 (GRCm39) A499V probably damaging Het
Barhl2 G T 5: 106,605,253 (GRCm39) A152E possibly damaging Het
Bbs12 T A 3: 37,375,194 (GRCm39) D547E probably damaging Het
Btaf1 A G 19: 36,981,934 (GRCm39) M1655V probably damaging Het
Ccdc50 T A 16: 27,225,408 (GRCm39) H40Q probably damaging Het
Ccr9 A T 9: 123,603,617 (GRCm39) probably benign Het
Cdh15 A G 8: 123,592,175 (GRCm39) D654G probably damaging Het
Cebpz T C 17: 79,233,553 (GRCm39) D758G probably damaging Het
Cgn C T 3: 94,672,960 (GRCm39) R906K possibly damaging Het
Chil3 T A 3: 106,067,839 (GRCm39) M109L possibly damaging Het
Cntnap4 A T 8: 113,569,148 (GRCm39) probably null Het
Cyp4f18 C T 8: 72,754,856 (GRCm39) probably benign Het
Daam2 A G 17: 49,770,952 (GRCm39) probably null Het
Ddost T A 4: 138,037,922 (GRCm39) H220Q probably benign Het
Dennd2a C T 6: 39,441,135 (GRCm39) probably benign Het
Depdc1b G A 13: 108,510,375 (GRCm39) V296I possibly damaging Het
Dnaaf4 A T 9: 72,879,618 (GRCm39) D386V probably damaging Het
Dnah5 A T 15: 28,299,256 (GRCm39) R1539S probably benign Het
Dusp22 T C 13: 30,889,641 (GRCm39) I74T probably damaging Het
Epc1 A G 18: 6,440,202 (GRCm39) probably benign Het
Epha7 A G 4: 28,961,301 (GRCm39) I845V probably benign Het
Fanci C T 7: 79,057,165 (GRCm39) probably benign Het
Fbn1 T A 2: 125,205,564 (GRCm39) E1104V probably damaging Het
Fbxo8 T A 8: 57,043,132 (GRCm39) F205L probably damaging Het
Fcgbpl1 G T 7: 27,841,699 (GRCm39) V545L probably benign Het
Fetub T C 16: 22,748,506 (GRCm39) probably benign Het
Frs3 T C 17: 48,014,747 (GRCm39) V480A probably benign Het
Gne C A 4: 44,060,157 (GRCm39) E79* probably null Het
Hrc T A 7: 44,985,921 (GRCm39) H357Q probably benign Het
Idh1 T C 1: 65,201,079 (GRCm39) M291V probably damaging Het
Il22b T A 10: 118,129,090 (GRCm39) H133L probably benign Het
Ino80b T C 6: 83,101,072 (GRCm39) E165G probably damaging Het
Inppl1 A T 7: 101,477,706 (GRCm39) probably benign Het
Ints15 G T 5: 143,293,643 (GRCm39) T278K probably benign Het
Ip6k2 T C 9: 108,676,432 (GRCm39) probably benign Het
Itga11 A T 9: 62,667,628 (GRCm39) I654F probably damaging Het
Jag2 G T 12: 112,876,997 (GRCm39) probably benign Het
Katna1 G T 10: 7,619,513 (GRCm39) probably benign Het
Kcnh4 G T 11: 100,636,995 (GRCm39) S707Y probably benign Het
Kcnn2 T G 18: 45,693,585 (GRCm39) L387R probably damaging Het
Khnyn A G 14: 56,125,425 (GRCm39) T503A probably damaging Het
Lama5 G T 2: 179,823,359 (GRCm39) probably benign Het
Lmbr1l A T 15: 98,806,654 (GRCm39) probably benign Het
Mast4 A T 13: 102,890,669 (GRCm39) S870T possibly damaging Het
Med1 A G 11: 98,058,400 (GRCm39) Y266H probably benign Het
Med13 A T 11: 86,236,829 (GRCm39) N109K probably benign Het
Mgam T C 6: 40,737,969 (GRCm39) probably benign Het
Mmp8 A G 9: 7,561,455 (GRCm39) Q153R probably benign Het
Mpeg1 C A 19: 12,439,055 (GRCm39) T171N probably benign Het
Mtus2 T C 5: 148,043,829 (GRCm39) S806P probably benign Het
Naip2 T A 13: 100,285,350 (GRCm39) E1226V probably damaging Het
Naip6 A G 13: 100,444,721 (GRCm39) F246L possibly damaging Het
Nav3 T C 10: 109,602,989 (GRCm39) I1187V possibly damaging Het
Nbeal1 T C 1: 60,344,529 (GRCm39) probably benign Het
Nbeal2 C A 9: 110,467,231 (GRCm39) V653L probably damaging Het
Ndufa9 G T 6: 126,804,495 (GRCm39) probably benign Het
Nlrp5 G T 7: 23,129,582 (GRCm39) C883F probably damaging Het
Nr0b2 C A 4: 133,283,303 (GRCm39) probably null Het
Or1m1 T A 9: 18,666,629 (GRCm39) M101L possibly damaging Het
Or6c209 T A 10: 129,483,600 (GRCm39) V201E probably damaging Het
Or6c69c G A 10: 129,910,692 (GRCm39) V138I probably benign Het
Or8b101 T A 9: 38,020,782 (GRCm39) S267T possibly damaging Het
Pkhd1 A T 1: 20,620,046 (GRCm39) probably null Het
Pkhd1l1 A G 15: 44,386,134 (GRCm39) probably benign Het
Ppm1l A G 3: 69,456,794 (GRCm39) K237R probably benign Het
Ppp1r18 T C 17: 36,184,603 (GRCm39) probably benign Het
Ptpn3 A T 4: 57,204,958 (GRCm39) D734E probably benign Het
Pxdn T C 12: 30,065,528 (GRCm39) C1283R probably damaging Het
Rbm12 A G 2: 155,937,644 (GRCm39) probably benign Het
Rttn A T 18: 89,027,584 (GRCm39) probably benign Het
Sgsm1 G T 5: 113,411,571 (GRCm39) H431Q probably benign Het
Siah3 A G 14: 75,763,367 (GRCm39) N206S possibly damaging Het
Slc22a15 G T 3: 101,767,827 (GRCm39) D521E probably benign Het
Sprr2k A T 3: 92,340,770 (GRCm39) probably benign Het
Stab2 G A 10: 86,803,477 (GRCm39) probably benign Het
Sval3 T A 6: 41,945,120 (GRCm39) L16Q probably damaging Het
Sycp2 C G 2: 178,023,648 (GRCm39) S456T probably benign Het
Tk1 T C 11: 117,707,921 (GRCm39) probably benign Het
Tlk2 C A 11: 105,145,799 (GRCm39) A335E probably benign Het
Tmtc1 T C 6: 148,151,079 (GRCm39) K659E probably benign Het
Tnk2 C T 16: 32,499,408 (GRCm39) P907L probably benign Het
Trim14 C A 4: 46,522,043 (GRCm39) K211N probably damaging Het
Trim15 A C 17: 37,177,878 (GRCm39) L39R probably damaging Het
Tspan15 T A 10: 62,023,872 (GRCm39) T269S probably benign Het
Ttc7 T A 17: 87,669,292 (GRCm39) D646E probably benign Het
Ttll6 A T 11: 96,038,382 (GRCm39) Q410L probably benign Het
Unc79 A G 12: 103,027,666 (GRCm39) Q419R probably damaging Het
Vcam1 A T 3: 115,908,065 (GRCm39) Y666N possibly damaging Het
Vmn1r10 A T 6: 57,090,486 (GRCm39) Y26F probably damaging Het
Vmn1r80 A G 7: 11,927,775 (GRCm39) N295S probably benign Het
Vmn2r114 A T 17: 23,509,917 (GRCm39) H854Q probably benign Het
Vmn2r2 A T 3: 64,042,039 (GRCm39) D225E probably damaging Het
Vmn2r4 A T 3: 64,296,855 (GRCm39) Y643* probably null Het
Vmn2r52 T A 7: 9,893,393 (GRCm39) Y582F probably damaging Het
Vmn2r60 G T 7: 41,844,564 (GRCm39) L642F possibly damaging Het
Zbtb20 T C 16: 43,430,109 (GRCm39) S207P probably damaging Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) probably benign Het
Zkscan7 G T 9: 122,717,958 (GRCm39) E118* probably null Het
Other mutations in Alpk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Alpk3 APN 7 80,727,757 (GRCm39) missense possibly damaging 0.95
IGL00472:Alpk3 APN 7 80,745,401 (GRCm39) splice site probably benign
IGL01732:Alpk3 APN 7 80,707,390 (GRCm39) missense unknown
IGL01750:Alpk3 APN 7 80,742,030 (GRCm39) missense probably damaging 1.00
IGL01812:Alpk3 APN 7 80,749,950 (GRCm39) missense probably damaging 1.00
IGL02224:Alpk3 APN 7 80,726,616 (GRCm39) splice site probably benign
IGL02292:Alpk3 APN 7 80,727,653 (GRCm39) missense possibly damaging 0.46
IGL02340:Alpk3 APN 7 80,728,255 (GRCm39) missense probably benign 0.03
IGL02517:Alpk3 APN 7 80,727,643 (GRCm39) missense probably benign 0.00
IGL02725:Alpk3 APN 7 80,743,358 (GRCm39) missense possibly damaging 0.91
IGL02755:Alpk3 APN 7 80,743,507 (GRCm39) missense possibly damaging 0.71
IGL03035:Alpk3 APN 7 80,728,352 (GRCm39) missense probably benign 0.00
IGL03102:Alpk3 APN 7 80,744,804 (GRCm39) critical splice donor site probably null
IGL03153:Alpk3 APN 7 80,743,143 (GRCm39) missense probably benign 0.00
IGL03255:Alpk3 APN 7 80,742,310 (GRCm39) missense probably benign 0.01
IGL03367:Alpk3 APN 7 80,744,738 (GRCm39) missense probably benign 0.01
FR4304:Alpk3 UTSW 7 80,727,510 (GRCm39) small insertion probably benign
FR4737:Alpk3 UTSW 7 80,727,510 (GRCm39) small insertion probably benign
IGL03097:Alpk3 UTSW 7 80,743,657 (GRCm39) missense probably benign 0.00
R0092:Alpk3 UTSW 7 80,742,301 (GRCm39) missense probably benign
R0254:Alpk3 UTSW 7 80,726,722 (GRCm39) missense probably benign 0.43
R0325:Alpk3 UTSW 7 80,717,701 (GRCm39) missense possibly damaging 0.58
R0387:Alpk3 UTSW 7 80,753,975 (GRCm39) missense possibly damaging 0.93
R0971:Alpk3 UTSW 7 80,742,327 (GRCm39) missense possibly damaging 0.55
R1078:Alpk3 UTSW 7 80,728,348 (GRCm39) missense probably benign
R1146:Alpk3 UTSW 7 80,727,343 (GRCm39) missense probably damaging 0.99
R1146:Alpk3 UTSW 7 80,727,343 (GRCm39) missense probably damaging 0.99
R1168:Alpk3 UTSW 7 80,753,105 (GRCm39) missense probably damaging 1.00
R1306:Alpk3 UTSW 7 80,743,621 (GRCm39) missense probably damaging 1.00
R1822:Alpk3 UTSW 7 80,726,679 (GRCm39) nonsense probably null
R2173:Alpk3 UTSW 7 80,726,648 (GRCm39) missense probably damaging 1.00
R2350:Alpk3 UTSW 7 80,744,718 (GRCm39) missense probably damaging 1.00
R2414:Alpk3 UTSW 7 80,742,501 (GRCm39) missense probably benign 0.02
R2417:Alpk3 UTSW 7 80,742,501 (GRCm39) missense probably benign 0.02
R2885:Alpk3 UTSW 7 80,749,940 (GRCm39) missense probably damaging 1.00
R3004:Alpk3 UTSW 7 80,753,103 (GRCm39) nonsense probably null
R3796:Alpk3 UTSW 7 80,742,501 (GRCm39) missense probably benign 0.02
R3797:Alpk3 UTSW 7 80,742,501 (GRCm39) missense probably benign 0.02
R3798:Alpk3 UTSW 7 80,742,501 (GRCm39) missense probably benign 0.02
R3799:Alpk3 UTSW 7 80,742,501 (GRCm39) missense probably benign 0.02
R3894:Alpk3 UTSW 7 80,728,138 (GRCm39) missense possibly damaging 0.93
R4395:Alpk3 UTSW 7 80,744,703 (GRCm39) missense probably damaging 1.00
R4761:Alpk3 UTSW 7 80,753,916 (GRCm39) missense probably damaging 0.99
R5505:Alpk3 UTSW 7 80,728,309 (GRCm39) missense possibly damaging 0.87
R5540:Alpk3 UTSW 7 80,745,184 (GRCm39) missense probably damaging 1.00
R5770:Alpk3 UTSW 7 80,728,310 (GRCm39) missense probably benign 0.02
R5941:Alpk3 UTSW 7 80,728,401 (GRCm39) missense probably damaging 1.00
R5964:Alpk3 UTSW 7 80,742,008 (GRCm39) missense possibly damaging 0.88
R6036:Alpk3 UTSW 7 80,743,005 (GRCm39) missense probably benign 0.34
R6036:Alpk3 UTSW 7 80,743,005 (GRCm39) missense probably benign 0.34
R6066:Alpk3 UTSW 7 80,726,698 (GRCm39) missense possibly damaging 0.89
R6517:Alpk3 UTSW 7 80,728,327 (GRCm39) missense possibly damaging 0.54
R6578:Alpk3 UTSW 7 80,728,432 (GRCm39) missense probably benign 0.00
R7230:Alpk3 UTSW 7 80,743,042 (GRCm39) missense probably damaging 1.00
R7266:Alpk3 UTSW 7 80,742,328 (GRCm39) missense possibly damaging 0.55
R7271:Alpk3 UTSW 7 80,728,202 (GRCm39) missense possibly damaging 0.92
R7402:Alpk3 UTSW 7 80,726,660 (GRCm39) missense probably benign 0.29
R7411:Alpk3 UTSW 7 80,742,600 (GRCm39) missense probably benign 0.11
R7454:Alpk3 UTSW 7 80,728,310 (GRCm39) missense probably benign 0.02
R7468:Alpk3 UTSW 7 80,750,746 (GRCm39) nonsense probably null
R7940:Alpk3 UTSW 7 80,743,693 (GRCm39) missense probably damaging 1.00
R8157:Alpk3 UTSW 7 80,743,470 (GRCm39) missense probably benign 0.00
R8246:Alpk3 UTSW 7 80,742,524 (GRCm39) missense probably benign 0.00
R8357:Alpk3 UTSW 7 80,743,066 (GRCm39) missense probably damaging 1.00
R8444:Alpk3 UTSW 7 80,707,468 (GRCm39) missense probably benign 0.08
R8457:Alpk3 UTSW 7 80,743,066 (GRCm39) missense probably damaging 1.00
R8775:Alpk3 UTSW 7 80,727,598 (GRCm39) missense probably benign 0.00
R8775-TAIL:Alpk3 UTSW 7 80,727,598 (GRCm39) missense probably benign 0.00
R8794:Alpk3 UTSW 7 80,707,403 (GRCm39) missense unknown
R8982:Alpk3 UTSW 7 80,748,750 (GRCm39) missense probably damaging 1.00
R9259:Alpk3 UTSW 7 80,743,302 (GRCm39) missense probably damaging 1.00
R9343:Alpk3 UTSW 7 80,742,079 (GRCm39) missense probably benign 0.27
R9567:Alpk3 UTSW 7 80,742,687 (GRCm39) missense possibly damaging 0.55
R9792:Alpk3 UTSW 7 80,750,881 (GRCm39) critical splice donor site probably null
R9793:Alpk3 UTSW 7 80,750,881 (GRCm39) critical splice donor site probably null
R9798:Alpk3 UTSW 7 80,742,400 (GRCm39) missense probably benign 0.02
RF034:Alpk3 UTSW 7 80,742,162 (GRCm39) small deletion probably benign
RF057:Alpk3 UTSW 7 80,742,165 (GRCm39) frame shift probably null
X0022:Alpk3 UTSW 7 80,743,645 (GRCm39) missense probably damaging 0.96
Z1176:Alpk3 UTSW 7 80,728,374 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCAGGTGTATTTCTCCCTGAAGGAC -3'
(R):5'- CAGTTTCCCAGAGCAGCCTCTAAG -3'

Sequencing Primer
(F):5'- TACCAGGGTAGCTGGAGAAAGT -3'
(R):5'- TGCAAGGGGCTATCTCGG -3'
Posted On 2013-04-16