Incidental Mutation 'R4761:Alpk3'
ID 356882
Institutional Source Beutler Lab
Gene Symbol Alpk3
Ensembl Gene ENSMUSG00000038763
Gene Name alpha-kinase 3
Synonyms Midori
MMRRC Submission 042402-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.355) question?
Stock # R4761 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 80707348-80755360 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80753916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 1632 (Q1632R)
Ref Sequence ENSEMBL: ENSMUSP00000102971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107348]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000107348
AA Change: Q1632R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763
AA Change: Q1632R

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 0.1578 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 100% (69/69)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9630041A04Rik A G 9: 101,820,165 (GRCm39) D195G possibly damaging Het
Abcc8 G A 7: 45,762,499 (GRCm39) R1221C probably damaging Het
Adra1a T A 14: 66,964,880 (GRCm39) probably null Het
Akr1c6 A T 13: 4,497,010 (GRCm39) M98L probably benign Het
Arhgap24 G T 5: 102,812,080 (GRCm39) probably benign Het
Atp8b5 A G 4: 43,308,504 (GRCm39) *40W probably null Het
Bdkrb2 A T 12: 105,554,537 (GRCm39) M17L probably benign Het
C4bp T C 1: 130,581,158 (GRCm39) K117R possibly damaging Het
Cacng3 A T 7: 122,367,887 (GRCm39) T256S probably benign Het
Cep63 T C 9: 102,464,240 (GRCm39) probably benign Het
Ces2b T A 8: 105,563,193 (GRCm39) probably null Het
Col12a1 T A 9: 79,564,592 (GRCm39) D1696V probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dcst1 A T 3: 89,264,860 (GRCm39) M296K possibly damaging Het
Ehbp1l1 G A 19: 5,769,875 (GRCm39) P476L possibly damaging Het
Enpp1 A G 10: 24,517,849 (GRCm39) V858A possibly damaging Het
Ermp1 T A 19: 29,623,656 (GRCm39) E55D probably benign Het
Eya1 G A 1: 14,373,045 (GRCm39) L25F probably damaging Het
Foxn2 T A 17: 88,770,136 (GRCm39) probably null Het
Gabrb3 A T 7: 57,415,250 (GRCm39) T107S probably damaging Het
Gm26678 A T 3: 54,540,564 (GRCm39) noncoding transcript Het
Gm7897 G T 1: 173,657,536 (GRCm39) noncoding transcript Het
Gm9789 A T 16: 88,954,915 (GRCm39) Y8F unknown Het
Gsta3 A T 1: 21,330,381 (GRCm39) T78S probably benign Het
H2-Ab1 A G 17: 34,486,474 (GRCm39) N178D probably damaging Het
Herc6 G A 6: 57,639,885 (GRCm39) V1000I probably benign Het
Hrnr A C 3: 93,230,062 (GRCm39) K100T probably damaging Het
Ift57 T C 16: 49,522,263 (GRCm39) F2L probably damaging Het
Iqca1l A G 5: 24,756,981 (GRCm39) V232A probably benign Het
Kmt2a C A 9: 44,760,421 (GRCm39) R509L probably damaging Het
Lefty1 T A 1: 180,765,190 (GRCm39) C253S probably benign Het
Lhx3 TCCTACGGGCCGGCCC TCC 2: 26,091,435 (GRCm39) probably null Het
Mfsd9 T C 1: 40,813,635 (GRCm39) K227E possibly damaging Het
Mrps2 C G 2: 28,359,946 (GRCm39) H268D probably benign Het
Mrps27 T A 13: 99,548,739 (GRCm39) S292T probably benign Het
Ncaph T C 2: 126,948,036 (GRCm39) D683G probably benign Het
Nlrc3 A T 16: 3,781,514 (GRCm39) S632T probably damaging Het
Nsun6 T C 2: 15,034,872 (GRCm39) T198A possibly damaging Het
Oasl2 C T 5: 115,037,836 (GRCm39) H78Y probably benign Het
Or8b54 T C 9: 38,687,133 (GRCm39) V194A probably benign Het
Pcsk5 T C 19: 17,814,512 (GRCm39) D2G possibly damaging Het
Pdgfrb C A 18: 61,212,772 (GRCm39) S892Y probably damaging Het
Phf8-ps A T 17: 33,286,172 (GRCm39) V210D probably damaging Het
Por T G 5: 135,754,784 (GRCm39) probably benign Het
Ppp2r5e A T 12: 75,640,035 (GRCm39) V22D possibly damaging Het
Prcp A G 7: 92,566,933 (GRCm39) probably null Het
Ptchd3 A T 11: 121,727,224 (GRCm39) N366I possibly damaging Het
Rprd1b A G 2: 157,889,890 (GRCm39) E4G probably damaging Het
Semp2l1 A T 1: 32,585,588 (GRCm39) S107R possibly damaging Het
Serpinb6d C A 13: 33,855,250 (GRCm39) S308Y probably damaging Het
Slc12a7 T C 13: 73,961,708 (GRCm39) V1026A probably benign Het
Slc17a7 G A 7: 44,820,408 (GRCm39) V313I probably benign Het
Slc35c1 T A 2: 92,289,168 (GRCm39) M113L probably damaging Het
Smgc A G 15: 91,729,717 (GRCm39) T178A possibly damaging Het
Spef2 A T 15: 9,653,040 (GRCm39) W914R probably damaging Het
Srfbp1 C A 18: 52,621,638 (GRCm39) P233Q probably damaging Het
Swt1 A C 1: 151,276,853 (GRCm39) C508G probably benign Het
Tex22 T C 12: 113,052,386 (GRCm39) V148A possibly damaging Het
Tle7 A T 8: 110,836,753 (GRCm39) D213V probably damaging Het
Tpd52 G A 3: 9,028,933 (GRCm39) P37L probably damaging Het
Utp25 T C 1: 192,796,230 (GRCm39) Y145C probably damaging Het
Vmn1r197 A T 13: 22,512,174 (GRCm39) M32L probably benign Het
Vmn2r100 T C 17: 19,741,630 (GRCm39) F114S possibly damaging Het
Xdh T A 17: 74,217,262 (GRCm39) I669F possibly damaging Het
Zfp940 G A 7: 29,545,578 (GRCm39) R110C probably benign 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
R0310:Alpk3 UTSW 7 80,728,358 (GRCm39) missense possibly damaging 0.61
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
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'- TCAAGGAGAGCTGTTTTCCTGC -3'
(R):5'- ATCTGGTTCAAGCTGCTTCC -3'

Sequencing Primer
(F):5'- TGCCCTGCTGGACCAGTTTG -3'
(R):5'- CAAGCTGCTTCCTGGTTGGTC -3'
Posted On 2015-11-11