Incidental Mutation 'R1672:Alpk2'
ID 187765
Institutional Source Beutler Lab
Gene Symbol Alpk2
Ensembl Gene ENSMUSG00000032845
Gene Name alpha-kinase 2
Synonyms Hak
MMRRC Submission 039708-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1672 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 65398600-65526959 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 65414030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 1562 (E1562K)
Ref Sequence ENSEMBL: ENSMUSP00000114658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035548] [ENSMUST00000141250]
AlphaFold Q91ZB0
Predicted Effect probably damaging
Transcript: ENSMUST00000035548
AA Change: E2029K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048752
Gene: ENSMUSG00000032845
AA Change: E2029K

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 probably damaging
Transcript: ENSMUST00000141250
AA Change: E1562K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114658
Gene: ENSMUSG00000032845
AA Change: E1562K

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik G A 16: 88,424,096 (GRCm39) Q132* probably null Het
Aadacl4 T A 4: 144,349,889 (GRCm39) L382* probably null Het
Afg3l2 A G 18: 67,540,493 (GRCm39) I672T probably benign Het
Aftph A T 11: 20,676,762 (GRCm39) D282E probably benign Het
Agpat5 A G 8: 18,920,930 (GRCm39) N161S probably benign Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Apobr A G 7: 126,186,723 (GRCm39) R745G probably benign Het
Arrdc5 T C 17: 56,607,144 (GRCm39) T34A possibly damaging Het
Astl T C 2: 127,189,163 (GRCm39) L163P probably damaging Het
Atf7ip2 A T 16: 10,027,005 (GRCm39) H91L probably damaging Het
Atp13a3 A T 16: 30,151,092 (GRCm39) S1073T possibly damaging Het
Bcl2a1a A T 9: 88,839,503 (GRCm39) I134L probably damaging Het
Brinp1 T C 4: 68,747,520 (GRCm39) probably null Het
Capn9 A G 8: 125,340,570 (GRCm39) N578S probably benign Het
Casp2 T A 6: 42,245,842 (GRCm39) D166E probably damaging Het
Ccr1l1 A T 9: 123,777,544 (GRCm39) I301N probably damaging Het
Chtop T A 3: 90,414,874 (GRCm39) T15S probably damaging Het
Coq5 T A 5: 115,417,975 (GRCm39) probably null Het
Crbn G A 6: 106,772,886 (GRCm39) P34L probably damaging Het
Crisp1 G T 17: 40,619,760 (GRCm39) D59E possibly damaging Het
Cyp4f14 A T 17: 33,128,210 (GRCm39) D268E probably benign Het
D5Ertd579e T C 5: 36,770,621 (GRCm39) D1258G possibly damaging Het
Dcp1b T C 6: 119,194,872 (GRCm39) S531P probably benign Het
Defb25 T C 2: 152,464,410 (GRCm39) M45V probably benign Het
Dffa T C 4: 149,190,702 (GRCm39) L77P probably damaging Het
Dixdc1 T C 9: 50,601,164 (GRCm39) Q361R probably damaging Het
Dnah1 A G 14: 30,998,157 (GRCm39) L2560P probably damaging Het
Fabp5 A G 3: 10,080,601 (GRCm39) T108A probably benign Het
Fam149a T G 8: 45,792,411 (GRCm39) probably null Het
Fam20c A G 5: 138,793,056 (GRCm39) Y430C probably damaging Het
Fat1 A G 8: 45,489,872 (GRCm39) T3595A probably damaging Het
Fbp1 A G 13: 63,015,245 (GRCm39) Y245H probably damaging Het
Frem1 C T 4: 82,917,128 (GRCm39) R605H probably benign Het
Fscb A G 12: 64,518,292 (GRCm39) I1058T unknown Het
Fyb2 A G 4: 104,808,059 (GRCm39) K373R probably benign Het
Ggta1 A T 2: 35,292,145 (GRCm39) Y387* probably null Het
Gm18856 T C 13: 14,140,342 (GRCm39) probably benign Het
Gm572 T C 4: 148,752,966 (GRCm39) S282P possibly damaging Het
Gpd2 A T 2: 57,247,712 (GRCm39) I552F probably damaging Het
Grk5 T C 19: 61,074,653 (GRCm39) probably null Het
Hivep1 T C 13: 42,313,760 (GRCm39) V2000A probably damaging Het
Ipo5 C T 14: 121,170,714 (GRCm39) L466F probably damaging Het
Itgb1 G A 8: 129,458,526 (GRCm39) S785N probably damaging Het
Itpr3 G A 17: 27,307,987 (GRCm39) R258K probably benign Het
Kcnk12 A G 17: 88,053,747 (GRCm39) V305A probably benign Het
Klf5 C T 14: 99,538,986 (GRCm39) T133I probably damaging Het
Lrig2 A G 3: 104,399,128 (GRCm39) I178T probably damaging Het
Lyrm4 A T 13: 36,276,907 (GRCm39) M30K probably benign Het
Mpv17 A G 5: 31,311,063 (GRCm39) Y7H probably damaging Het
Mrps22 T C 9: 98,478,869 (GRCm39) probably null Het
Myof A T 19: 37,931,927 (GRCm39) W967R probably damaging Het
Naip1 C T 13: 100,559,657 (GRCm39) D1116N probably benign Het
Or1e33 T C 11: 73,738,781 (GRCm39) T57A probably benign Het
Or6c66b C A 10: 129,376,561 (GRCm39) H52N probably benign Het
Or8g50 G A 9: 39,648,492 (GRCm39) C127Y probably damaging Het
Or9k2b T C 10: 130,016,261 (GRCm39) T163A probably benign Het
Ovol2 T C 2: 144,147,710 (GRCm39) Y180C probably damaging Het
Pacs1 T C 19: 5,202,337 (GRCm39) S418G probably benign Het
Pcdh1 T C 18: 38,325,233 (GRCm39) E903G probably damaging Het
Pcdhb15 A T 18: 37,607,713 (GRCm39) Y315F probably damaging Het
Pex1 T C 5: 3,676,085 (GRCm39) L891P probably damaging Het
Potefam1 T A 2: 111,051,119 (GRCm39) M226L probably benign Het
Ppfia2 G A 10: 106,666,429 (GRCm39) M378I possibly damaging Het
Ppp1r9a T A 6: 5,143,491 (GRCm39) probably null Het
Prm3 T C 16: 10,608,563 (GRCm39) E64G possibly damaging Het
Prmt6 T C 3: 110,157,887 (GRCm39) D134G possibly damaging Het
Prss42 G A 9: 110,629,996 (GRCm39) G250D probably damaging Het
Pwwp2b G A 7: 138,834,747 (GRCm39) V63I probably benign Het
Rbm17 T C 2: 11,590,530 (GRCm39) D375G possibly damaging Het
Rhbdl1 A T 17: 26,055,383 (GRCm39) probably null Het
Rims2 T A 15: 39,155,584 (GRCm39) D128E probably benign Het
Rock2 A G 12: 17,015,653 (GRCm39) K850R probably benign Het
Rreb1 T C 13: 38,114,513 (GRCm39) I624T probably benign Het
Rrp36 A T 17: 46,983,340 (GRCm39) D91E probably damaging Het
Scn7a C T 2: 66,527,944 (GRCm39) D849N possibly damaging Het
Sec24a A T 11: 51,634,775 (GRCm39) Y50* probably null Het
Sh2d4b A G 14: 40,614,921 (GRCm39) M1T probably null Het
Slc4a7 A G 14: 14,760,247 (GRCm38) I561V possibly damaging Het
Slc7a12 T C 3: 14,564,337 (GRCm39) V70A possibly damaging Het
Slfnl1 A T 4: 120,392,972 (GRCm39) I355F probably damaging Het
Spata2 C T 2: 167,325,439 (GRCm39) R460H probably damaging Het
Stk11ip C T 1: 75,505,629 (GRCm39) Q433* probably null Het
Susd1 T C 4: 59,411,395 (GRCm39) Y146C probably damaging Het
Susd5 A T 9: 113,897,890 (GRCm39) D115V probably damaging Het
Tas2r110 T A 6: 132,845,029 (GRCm39) V20E probably damaging Het
Tbc1d4 T C 14: 101,712,651 (GRCm39) Y694C possibly damaging Het
Tmem131 T C 1: 36,863,840 (GRCm39) E640G probably damaging Het
Togaram1 A G 12: 65,068,342 (GRCm39) T1782A probably benign Het
Trim24 T C 6: 37,892,214 (GRCm39) L249P probably damaging Het
Ttf1 T C 2: 28,957,164 (GRCm39) I478T probably damaging Het
Upf2 T A 2: 6,044,908 (GRCm39) probably null Het
Urb1 A T 16: 90,584,285 (GRCm39) C566S probably damaging Het
Vmn1r191 T C 13: 22,363,262 (GRCm39) N164S probably benign Het
Vmn2r81 T A 10: 79,104,112 (GRCm39) V245E probably damaging Het
Vwce T A 19: 10,630,459 (GRCm39) F506Y possibly damaging Het
Wnt8b T C 19: 44,499,715 (GRCm39) F155L probably damaging Het
Xrra1 A T 7: 99,547,647 (GRCm39) I279F probably benign Het
Zfp229 T C 17: 21,964,828 (GRCm39) S353P probably damaging Het
Zfp607b C T 7: 27,391,948 (GRCm39) H8Y possibly damaging Het
Zfp933 A T 4: 147,910,476 (GRCm39) H373Q probably damaging Het
Zfp938 A G 10: 82,060,982 (GRCm39) L546P probably benign Het
Zfp988 C T 4: 147,415,739 (GRCm39) R58C probably benign Het
Zkscan14 C T 5: 145,138,464 (GRCm39) V8I probably benign 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
R1829:Alpk2 UTSW 18 65,427,165 (GRCm39) missense possibly damaging 0.75
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'- CACCGACATTTCCTAGAGGTCAGC -3'
(R):5'- CAGACACTGTTCCCGTCTGAAATCC -3'

Sequencing Primer
(F):5'- CCCAAGCTTCATTTGTAATGGGAC -3'
(R):5'- CCCGTCTGAAATCCAGATGTG -3'
Posted On 2014-05-09