Incidental Mutation 'R1829:Alpk2'
ID 207190
Institutional Source Beutler Lab
Gene Symbol Alpk2
Ensembl Gene ENSMUSG00000032845
Gene Name alpha-kinase 2
Synonyms Hak
MMRRC Submission 039856-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1829 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 65398600-65526959 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65427165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 1857 (H1857L)
Ref Sequence ENSEMBL: ENSMUSP00000048752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035548] [ENSMUST00000141250]
AlphaFold Q91ZB0
Predicted Effect possibly damaging
Transcript: ENSMUST00000035548
AA Change: H1857L

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000048752
Gene: ENSMUSG00000032845
AA Change: H1857L

DomainStartEndE-ValueType
IGc2 24 94 9.34e-4 SMART
low complexity region 196 209 N/A INTRINSIC
low complexity region 722 734 N/A INTRINSIC
low complexity region 1025 1037 N/A INTRINSIC
low complexity region 1337 1353 N/A INTRINSIC
IG 1766 1849 2.27e-2 SMART
Alpha_kinase 1879 2098 3.72e-79 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000141250
AA Change: H1390L

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000114658
Gene: ENSMUSG00000032845
AA Change: H1390L

DomainStartEndE-ValueType
low complexity region 255 267 N/A INTRINSIC
low complexity region 558 570 N/A INTRINSIC
low complexity region 870 886 N/A INTRINSIC
IG 1299 1382 2.27e-2 SMART
Alpha_kinase 1412 1603 2.45e-56 SMART
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.7%
Validation Efficiency
Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock
Total: 114 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A T 8: 111,769,338 (GRCm39) D287V probably damaging Het
Abca12 A G 1: 71,334,188 (GRCm39) C1105R probably benign Het
Abca8b T A 11: 109,833,167 (GRCm39) N1178Y probably damaging Het
Abhd12 A G 2: 150,685,318 (GRCm39) L189P probably damaging Het
Acap2 G T 16: 30,929,752 (GRCm39) N435K probably damaging Het
Adam6b G T 12: 113,453,545 (GRCm39) G121C probably damaging Het
Adgrb1 C A 15: 74,452,435 (GRCm39) C200* probably null Het
Agbl5 T C 5: 31,060,408 (GRCm39) S730P possibly damaging Het
Ahsg G A 16: 22,711,078 (GRCm39) probably benign Het
Aldh9a1 A T 1: 167,189,423 (GRCm39) K390N probably benign Het
Apip T A 2: 102,919,007 (GRCm39) N102K probably benign Het
Asxl2 T C 12: 3,507,125 (GRCm39) S106P probably damaging Het
Atp2b2 G T 6: 113,750,329 (GRCm39) R677S probably damaging Het
Barhl1 A C 2: 28,799,857 (GRCm39) M256R probably damaging Het
Cacnb2 A T 2: 14,990,775 (GRCm39) Q619L possibly damaging Het
Ccdc137 C T 11: 120,349,038 (GRCm39) P23L probably benign Het
Cdh11 A T 8: 103,361,273 (GRCm39) N688K possibly damaging Het
Cdh18 C T 15: 23,173,938 (GRCm39) P51S probably damaging Het
Cdin1 G T 2: 115,473,173 (GRCm39) R101L possibly damaging Het
Cfhr1 A T 1: 139,481,338 (GRCm39) Y181N probably damaging Het
Chmp3 A G 6: 71,537,923 (GRCm39) D50G probably benign Het
Crem T C 18: 3,295,037 (GRCm39) probably null Het
Cyb561a3 G A 19: 10,559,757 (GRCm39) W27* probably null Het
Cyp2d12 C A 15: 82,442,257 (GRCm39) N297K possibly damaging Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dnah12 T A 14: 26,522,032 (GRCm39) N1948K probably damaging Het
Dnah12 T C 14: 26,494,980 (GRCm39) L1346P probably damaging Het
Dsp T G 13: 38,377,171 (GRCm39) L1652R probably damaging Het
Dstyk G A 1: 132,377,333 (GRCm39) S66N probably benign Het
Ehhadh T C 16: 21,580,928 (GRCm39) E688G probably damaging Het
Emsy G T 7: 98,251,937 (GRCm39) H688N possibly damaging Het
Emsy T A 7: 98,251,936 (GRCm39) H688L possibly damaging Het
Endod1 A G 9: 14,268,222 (GRCm39) L421P probably damaging Het
Fam222b C T 11: 78,045,861 (GRCm39) P346L probably damaging Het
Fam3c G A 6: 22,309,436 (GRCm39) R182W probably damaging Het
Gck T C 11: 5,860,984 (GRCm39) D29G probably damaging Het
Gm10320 C A 13: 98,626,207 (GRCm39) R59L probably damaging Het
Gm21798 C T 15: 64,689,675 (GRCm39) probably benign Het
Gm9376 A G 14: 118,504,957 (GRCm39) T130A possibly damaging Het
Gpr153 T A 4: 152,366,849 (GRCm39) I334N possibly damaging Het
Greb1l T C 18: 10,509,314 (GRCm39) L542P probably damaging Het
H2-T15 G T 17: 36,368,896 (GRCm39) F61L probably damaging Het
Hacl1 T C 14: 31,362,491 (GRCm39) E52G probably benign Het
Ice2 A G 9: 69,314,635 (GRCm39) Y128C probably damaging Het
Ikzf2 T A 1: 69,581,446 (GRCm39) I121L probably benign Het
Ipcef1 C T 10: 6,869,900 (GRCm39) A167T probably benign Het
Jakmip2 T A 18: 43,715,145 (GRCm39) D127V possibly damaging Het
Jph4 T C 14: 55,352,368 (GRCm39) T122A probably damaging Het
Kcns2 A G 15: 34,838,949 (GRCm39) E104G probably damaging Het
Lars2 A C 9: 123,260,982 (GRCm39) R384S probably benign Het
Lsmem1 T A 12: 40,235,407 (GRCm39) H3L possibly damaging Het
Lsmem1 G T 12: 40,235,408 (GRCm39) H3N possibly damaging Het
Ly6g2 T G 15: 75,088,605 (GRCm39) probably null Het
Mfhas1 A C 8: 36,057,222 (GRCm39) S566R probably benign Het
Mfhas1 C G 8: 36,057,402 (GRCm39) R626G probably benign Het
Mgam A G 6: 40,643,826 (GRCm39) T585A probably damaging Het
Mmp25 T C 17: 23,858,997 (GRCm39) K185E probably benign Het
Mtch1 T C 17: 29,557,750 (GRCm39) I243V probably damaging Het
Mtcp1 A T X: 74,455,271 (GRCm39) Y25* probably null Het
Mybl2 A G 2: 162,901,503 (GRCm39) T35A probably benign Het
Myh11 T C 16: 14,041,744 (GRCm39) E736G probably damaging Het
Myh2 T C 11: 67,067,385 (GRCm39) I224T probably damaging Het
Mymx T C 17: 45,912,759 (GRCm39) probably benign Het
Nek10 A G 14: 14,863,454 (GRCm38) probably null Het
Nsd1 A T 13: 55,394,182 (GRCm39) K697N probably damaging Het
Nynrin A G 14: 56,110,404 (GRCm39) D1837G possibly damaging Het
Or14j4 G A 17: 37,921,168 (GRCm39) T158I probably benign Het
Or2ag2b A G 7: 106,418,214 (GRCm39) H308R probably benign Het
Or52s1 A T 7: 102,861,093 (GRCm39) T9S probably benign Het
Or5p81 T A 7: 108,266,851 (GRCm39) I76N probably benign Het
Or6k4 T A 1: 173,964,760 (GRCm39) I150N probably benign Het
Pgap6 T C 17: 26,341,194 (GRCm39) Y766H probably damaging Het
Phf19 T C 2: 34,801,781 (GRCm39) T10A probably benign Het
Pkd1 A T 17: 24,784,558 (GRCm39) H368L probably benign Het
Plscr2 A G 9: 92,172,808 (GRCm39) R156G probably damaging Het
Ppp1r42 G A 1: 10,070,311 (GRCm39) R61C probably benign Het
Pptc7 T G 5: 122,451,679 (GRCm39) V45G probably damaging Het
Prlhr G A 19: 60,455,867 (GRCm39) T233I probably damaging Het
Prr23a4 T A 9: 98,785,446 (GRCm39) I37N possibly damaging Het
Reps1 C T 10: 17,983,462 (GRCm39) T435I probably damaging Het
Ret T A 6: 118,130,912 (GRCm39) T1084S probably damaging Het
Rgl2 T A 17: 34,152,595 (GRCm39) M402K probably benign Het
Rp2 A G X: 20,243,154 (GRCm39) K43R probably benign Het
Rundc3b A T 5: 8,629,117 (GRCm39) W95R probably damaging Het
Samd9l T C 6: 3,375,107 (GRCm39) D718G possibly damaging Het
Scnn1b G A 7: 121,502,068 (GRCm39) R242H probably benign Het
Smad4 G T 18: 73,774,965 (GRCm39) Q445K probably benign Het
Smchd1 G T 17: 71,677,332 (GRCm39) P1486T probably damaging Het
Snx25 G T 8: 46,488,669 (GRCm39) N895K possibly damaging Het
Sox2 A G 3: 34,704,890 (GRCm39) D109G probably damaging Het
Stfa2 A T 16: 36,225,564 (GRCm39) N38K probably damaging Het
Stfa2 C A 16: 36,225,573 (GRCm39) E35D possibly damaging Het
Stfa3 A G 16: 36,271,023 (GRCm39) L87P probably damaging Het
Strbp T C 2: 37,530,921 (GRCm39) D111G possibly damaging Het
Supt20 C A 3: 54,635,079 (GRCm39) probably benign Het
Svep1 A G 4: 58,096,310 (GRCm39) Y1437H possibly damaging Het
Tbx4 T A 11: 85,802,746 (GRCm39) probably null Het
Tmem117 A T 15: 94,992,432 (GRCm39) N364I probably damaging Het
Trat1 T C 16: 48,581,742 (GRCm39) E45G probably damaging Het
Trpc2 G A 7: 101,733,326 (GRCm39) D92N probably damaging Het
Trpm1 G A 7: 63,876,530 (GRCm39) D528N probably damaging Het
Ttll9 A G 2: 152,842,156 (GRCm39) S337G possibly damaging Het
Utrn A T 10: 12,351,018 (GRCm39) I355N probably damaging Het
Vangl1 A G 3: 102,070,782 (GRCm39) S385P probably benign Het
Vmn1r209 A G 13: 22,990,409 (GRCm39) S94P possibly damaging Het
Vmn2r28 T A 7: 5,496,810 (GRCm39) Q14L probably benign Het
Vps45 A G 3: 95,954,557 (GRCm39) probably null Het
Wdr48 T C 9: 119,733,396 (GRCm39) V81A probably benign Het
Xpnpep2 A G X: 47,214,230 (GRCm39) N476S probably benign Het
Zbtb41 A T 1: 139,374,660 (GRCm39) K707* probably null Het
Zfp442 A C 2: 150,250,983 (GRCm39) C306W probably damaging Het
Zfp811 T C 17: 33,017,116 (GRCm39) N307S possibly damaging Het
Zfp976 A G 7: 42,265,735 (GRCm39) W17R probably damaging Het
Zyg11b T C 4: 108,123,290 (GRCm39) T226A possibly damaging Het
Other mutations in Alpk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:Alpk2 APN 18 65,438,894 (GRCm39) missense probably benign 0.27
IGL00478:Alpk2 APN 18 65,440,297 (GRCm39) nonsense probably null
IGL00898:Alpk2 APN 18 65,483,644 (GRCm39) missense probably benign 0.29
IGL00978:Alpk2 APN 18 65,424,605 (GRCm39) splice site probably benign
IGL01093:Alpk2 APN 18 65,482,400 (GRCm39) missense probably damaging 0.98
IGL01094:Alpk2 APN 18 65,439,673 (GRCm39) missense probably damaging 0.96
IGL01109:Alpk2 APN 18 65,440,211 (GRCm39) missense probably benign 0.09
IGL01370:Alpk2 APN 18 65,483,662 (GRCm39) missense possibly damaging 0.56
IGL01393:Alpk2 APN 18 65,440,779 (GRCm39) missense possibly damaging 0.88
IGL01629:Alpk2 APN 18 65,433,113 (GRCm39) missense probably damaging 1.00
IGL01872:Alpk2 APN 18 65,437,824 (GRCm39) missense probably benign 0.01
IGL01983:Alpk2 APN 18 65,483,753 (GRCm39) missense probably damaging 1.00
IGL02294:Alpk2 APN 18 65,439,146 (GRCm39) missense possibly damaging 0.45
IGL02333:Alpk2 APN 18 65,482,551 (GRCm39) missense probably damaging 0.99
IGL02493:Alpk2 APN 18 65,483,402 (GRCm39) missense probably benign 0.02
IGL02551:Alpk2 APN 18 65,505,822 (GRCm39) missense probably damaging 1.00
IGL02864:Alpk2 APN 18 65,440,670 (GRCm39) missense probably benign 0.12
IGL02901:Alpk2 APN 18 65,439,482 (GRCm39) missense probably benign
IGL02954:Alpk2 APN 18 65,439,207 (GRCm39) missense probably benign
IGL03257:Alpk2 APN 18 65,482,945 (GRCm39) missense probably damaging 0.99
IGL03389:Alpk2 APN 18 65,437,937 (GRCm39) missense possibly damaging 0.92
3-1:Alpk2 UTSW 18 65,437,959 (GRCm39) missense probably damaging 0.99
PIT4131001:Alpk2 UTSW 18 65,439,450 (GRCm39) missense possibly damaging 0.84
R0098:Alpk2 UTSW 18 65,482,982 (GRCm39) missense probably damaging 1.00
R0098:Alpk2 UTSW 18 65,482,982 (GRCm39) missense probably damaging 1.00
R0414:Alpk2 UTSW 18 65,439,230 (GRCm39) missense probably benign 0.04
R0546:Alpk2 UTSW 18 65,439,788 (GRCm39) missense probably benign 0.05
R0628:Alpk2 UTSW 18 65,440,367 (GRCm39) missense possibly damaging 0.94
R0658:Alpk2 UTSW 18 65,482,558 (GRCm39) missense probably damaging 1.00
R0731:Alpk2 UTSW 18 65,438,461 (GRCm39) missense probably damaging 0.98
R0919:Alpk2 UTSW 18 65,440,544 (GRCm39) missense probably benign
R1069:Alpk2 UTSW 18 65,438,085 (GRCm39) missense probably benign 0.25
R1186:Alpk2 UTSW 18 65,427,412 (GRCm39) critical splice acceptor site probably null
R1508:Alpk2 UTSW 18 65,482,376 (GRCm39) missense probably damaging 1.00
R1535:Alpk2 UTSW 18 65,483,275 (GRCm39) missense probably benign
R1558:Alpk2 UTSW 18 65,483,301 (GRCm39) missense probably benign
R1600:Alpk2 UTSW 18 65,511,108 (GRCm39) missense probably damaging 0.96
R1664:Alpk2 UTSW 18 65,482,944 (GRCm39) missense probably damaging 0.96
R1672:Alpk2 UTSW 18 65,414,030 (GRCm39) missense probably damaging 1.00
R2110:Alpk2 UTSW 18 65,440,151 (GRCm39) missense possibly damaging 0.94
R2111:Alpk2 UTSW 18 65,482,845 (GRCm39) missense probably benign
R2113:Alpk2 UTSW 18 65,438,754 (GRCm39) missense probably benign 0.31
R2126:Alpk2 UTSW 18 65,483,439 (GRCm39) nonsense probably null
R2198:Alpk2 UTSW 18 65,483,255 (GRCm39) missense probably benign 0.42
R2227:Alpk2 UTSW 18 65,511,147 (GRCm39) missense probably damaging 1.00
R2245:Alpk2 UTSW 18 65,438,234 (GRCm39) missense probably benign 0.02
R2282:Alpk2 UTSW 18 65,440,697 (GRCm39) missense probably benign
R2421:Alpk2 UTSW 18 65,439,687 (GRCm39) missense probably benign 0.00
R2512:Alpk2 UTSW 18 65,483,591 (GRCm39) missense probably damaging 0.96
R3105:Alpk2 UTSW 18 65,483,281 (GRCm39) missense possibly damaging 0.57
R3700:Alpk2 UTSW 18 65,438,222 (GRCm39) missense probably damaging 0.99
R4205:Alpk2 UTSW 18 65,438,282 (GRCm39) missense possibly damaging 0.76
R4239:Alpk2 UTSW 18 65,433,212 (GRCm39) missense probably damaging 1.00
R4353:Alpk2 UTSW 18 65,424,523 (GRCm39) missense possibly damaging 0.73
R4572:Alpk2 UTSW 18 65,414,075 (GRCm39) missense probably damaging 1.00
R4584:Alpk2 UTSW 18 65,440,035 (GRCm39) missense probably damaging 0.99
R4591:Alpk2 UTSW 18 65,438,894 (GRCm39) missense probably benign 0.27
R4595:Alpk2 UTSW 18 65,422,819 (GRCm39) missense probably damaging 1.00
R4648:Alpk2 UTSW 18 65,482,953 (GRCm39) missense probably damaging 0.99
R4815:Alpk2 UTSW 18 65,483,026 (GRCm39) missense probably damaging 1.00
R4828:Alpk2 UTSW 18 65,482,184 (GRCm39) missense probably benign
R4910:Alpk2 UTSW 18 65,399,357 (GRCm39) nonsense probably null
R5042:Alpk2 UTSW 18 65,483,579 (GRCm39) nonsense probably null
R5295:Alpk2 UTSW 18 65,438,109 (GRCm39) missense probably damaging 0.98
R5375:Alpk2 UTSW 18 65,505,809 (GRCm39) missense probably damaging 1.00
R5475:Alpk2 UTSW 18 65,440,083 (GRCm39) missense probably benign 0.16
R5480:Alpk2 UTSW 18 65,482,979 (GRCm39) missense probably damaging 1.00
R5486:Alpk2 UTSW 18 65,427,425 (GRCm39) splice site probably null
R5503:Alpk2 UTSW 18 65,439,312 (GRCm39) missense probably benign 0.00
R5595:Alpk2 UTSW 18 65,399,319 (GRCm39) missense probably damaging 1.00
R5648:Alpk2 UTSW 18 65,482,988 (GRCm39) missense probably damaging 0.96
R5714:Alpk2 UTSW 18 65,438,532 (GRCm39) missense possibly damaging 0.55
R5862:Alpk2 UTSW 18 65,440,360 (GRCm39) missense probably damaging 1.00
R5894:Alpk2 UTSW 18 65,414,143 (GRCm39) missense probably damaging 0.99
R5898:Alpk2 UTSW 18 65,440,694 (GRCm39) missense probably damaging 0.99
R5936:Alpk2 UTSW 18 65,483,591 (GRCm39) missense probably damaging 0.96
R6142:Alpk2 UTSW 18 65,438,456 (GRCm39) missense possibly damaging 0.94
R6291:Alpk2 UTSW 18 65,438,972 (GRCm39) missense possibly damaging 0.93
R6339:Alpk2 UTSW 18 65,482,877 (GRCm39) missense probably benign 0.00
R6407:Alpk2 UTSW 18 65,422,809 (GRCm39) missense probably benign 0.22
R6487:Alpk2 UTSW 18 65,399,254 (GRCm39) missense possibly damaging 0.62
R6667:Alpk2 UTSW 18 65,440,811 (GRCm39) missense probably damaging 1.00
R6786:Alpk2 UTSW 18 65,439,705 (GRCm39) missense probably benign
R6833:Alpk2 UTSW 18 65,439,480 (GRCm39) missense probably benign 0.08
R6984:Alpk2 UTSW 18 65,438,749 (GRCm39) missense possibly damaging 0.95
R6999:Alpk2 UTSW 18 65,437,584 (GRCm39) missense probably damaging 0.99
R7157:Alpk2 UTSW 18 65,399,348 (GRCm39) nonsense probably null
R7167:Alpk2 UTSW 18 65,440,049 (GRCm39) missense probably benign 0.40
R7225:Alpk2 UTSW 18 65,438,270 (GRCm39) missense probably benign 0.00
R7409:Alpk2 UTSW 18 65,440,023 (GRCm39) missense probably benign 0.01
R7533:Alpk2 UTSW 18 65,437,674 (GRCm39) missense probably damaging 1.00
R7576:Alpk2 UTSW 18 65,439,887 (GRCm39) missense possibly damaging 0.89
R7589:Alpk2 UTSW 18 65,433,144 (GRCm39) missense probably damaging 1.00
R7598:Alpk2 UTSW 18 65,437,637 (GRCm39) missense probably damaging 1.00
R7664:Alpk2 UTSW 18 65,440,073 (GRCm39) missense probably benign 0.03
R7711:Alpk2 UTSW 18 65,439,555 (GRCm39) missense probably benign
R7722:Alpk2 UTSW 18 65,483,228 (GRCm39) missense probably damaging 1.00
R7783:Alpk2 UTSW 18 65,439,325 (GRCm39) nonsense probably null
R7806:Alpk2 UTSW 18 65,482,487 (GRCm39) missense probably benign
R7953:Alpk2 UTSW 18 65,482,901 (GRCm39) missense probably damaging 1.00
R8024:Alpk2 UTSW 18 65,438,106 (GRCm39) missense probably benign 0.01
R8043:Alpk2 UTSW 18 65,482,901 (GRCm39) missense probably damaging 1.00
R8063:Alpk2 UTSW 18 65,483,417 (GRCm39) missense probably benign 0.15
R8171:Alpk2 UTSW 18 65,439,054 (GRCm39) missense probably benign 0.00
R8280:Alpk2 UTSW 18 65,440,274 (GRCm39) missense probably benign
R8383:Alpk2 UTSW 18 65,438,469 (GRCm39) missense probably benign 0.03
R8414:Alpk2 UTSW 18 65,440,542 (GRCm39) missense possibly damaging 0.89
R8791:Alpk2 UTSW 18 65,438,597 (GRCm39) missense probably benign 0.00
R8872:Alpk2 UTSW 18 65,413,977 (GRCm39) missense probably damaging 1.00
R9352:Alpk2 UTSW 18 65,439,783 (GRCm39) missense probably benign 0.01
R9449:Alpk2 UTSW 18 65,424,464 (GRCm39) missense probably damaging 1.00
R9525:Alpk2 UTSW 18 65,399,288 (GRCm39) missense probably damaging 1.00
R9564:Alpk2 UTSW 18 65,439,014 (GRCm39) missense probably damaging 1.00
R9710:Alpk2 UTSW 18 65,482,646 (GRCm39) missense probably damaging 1.00
X0023:Alpk2 UTSW 18 65,424,471 (GRCm39) missense probably damaging 1.00
X0027:Alpk2 UTSW 18 65,440,542 (GRCm39) missense possibly damaging 0.89
X0063:Alpk2 UTSW 18 65,440,434 (GRCm39) missense probably benign
X0064:Alpk2 UTSW 18 65,482,755 (GRCm39) missense probably benign 0.09
Z1176:Alpk2 UTSW 18 65,438,682 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AAATTCTTTCCGGGACAATAGCC -3'
(R):5'- AGGGCCTGTATTACTGCTGC -3'

Sequencing Primer
(F):5'- AATAGCCGTTCCAGCCTCATGG -3'
(R):5'- CTGCTGCCTCAAGAACAGTTATGG -3'
Posted On 2014-06-23