Incidental Mutation 'R8171:Alpk2'
ID 634166
Institutional Source Beutler Lab
Gene Symbol Alpk2
Ensembl Gene ENSMUSG00000032845
Gene Name alpha-kinase 2
Synonyms Hak
MMRRC Submission 067597-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8171 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 65398600-65526959 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65439054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 780 (S780P)
Ref Sequence ENSEMBL: ENSMUSP00000114658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035548] [ENSMUST00000141250]
AlphaFold Q91ZB0
Predicted Effect probably benign
Transcript: ENSMUST00000035548
AA Change: S1247P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000048752
Gene: ENSMUSG00000032845
AA Change: S1247P

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 benign
Transcript: ENSMUST00000141250
AA Change: S780P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000114658
Gene: ENSMUSG00000032845
AA Change: S780P

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik G T 14: 32,383,982 (GRCm39) A661E probably benign Het
Abhd14a T A 9: 106,317,960 (GRCm39) T142S probably benign Het
Actn1 A G 12: 80,243,167 (GRCm39) probably null Het
Adss2 T C 1: 177,623,917 (GRCm39) N15S probably benign Het
Asap1 G T 15: 63,982,815 (GRCm39) L830M probably damaging Het
Atic T C 1: 71,609,032 (GRCm39) V319A possibly damaging Het
Atp8a2 A T 14: 60,283,493 (GRCm39) I87N probably damaging Het
Bace2 G T 16: 97,225,786 (GRCm39) V407L possibly damaging Het
Bltp1 T C 3: 37,029,862 (GRCm39) V2423A probably benign Het
Bmp3 A T 5: 99,020,528 (GRCm39) Y317F probably damaging Het
Ccdc159 A G 9: 21,845,007 (GRCm39) E291G possibly damaging Het
Cct8l1 T A 5: 25,721,552 (GRCm39) L89Q probably damaging Het
Cep83 T A 10: 94,604,797 (GRCm39) N503K possibly damaging Het
Ces4a A G 8: 105,873,839 (GRCm39) Y436C probably damaging Het
Cftr T A 6: 18,258,287 (GRCm39) D579E probably damaging Het
Chd9 T A 8: 91,752,015 (GRCm39) V1751D possibly damaging Het
Clasp2 A T 9: 113,732,974 (GRCm39) T937S possibly damaging Het
Clock T A 5: 76,414,261 (GRCm39) D17V possibly damaging Het
Cpm T C 10: 117,519,220 (GRCm39) L376P probably damaging Het
Crocc2 T C 1: 93,116,723 (GRCm39) probably null Het
Csnk1g2 A G 10: 80,475,636 (GRCm39) D401G probably damaging Het
Cyb5r4 C T 9: 86,924,863 (GRCm39) L206F possibly damaging Het
Cyp1a1 T A 9: 57,607,479 (GRCm39) W36R probably benign Het
Cyp3a59 A T 5: 146,022,584 (GRCm39) H30L probably damaging Het
Dab2 G A 15: 6,453,407 (GRCm39) V182I probably benign Het
Dnah1 G T 14: 31,019,067 (GRCm39) F1342L probably damaging Het
Draxin A T 4: 148,200,123 (GRCm39) L109Q possibly damaging Het
Elfn1 G A 5: 139,957,112 (GRCm39) V39M probably damaging Het
Erlin1 A G 19: 44,057,768 (GRCm39) I19T probably benign Het
F830016B08Rik T A 18: 60,433,150 (GRCm39) S78T possibly damaging Het
Fer1l4 A G 2: 155,890,151 (GRCm39) V258A probably benign Het
Fgb T C 3: 82,949,822 (GRCm39) D445G probably damaging Het
Fgd6 T C 10: 93,910,194 (GRCm39) probably null Het
Frem3 T A 8: 81,341,869 (GRCm39) D1387E probably damaging Het
Gdf3 T C 6: 122,586,862 (GRCm39) T22A probably benign Het
Glcci1 C T 6: 8,593,167 (GRCm39) A511V probably benign Het
Gldc A T 19: 30,111,161 (GRCm39) N538K probably benign Het
Glipr1l1 C T 10: 111,914,289 (GRCm39) P217S probably benign Het
Gpr161 A G 1: 165,134,005 (GRCm39) N89S probably damaging Het
Gypa T A 8: 81,236,092 (GRCm39) S166T probably benign Het
Hcar1 A G 5: 124,017,152 (GRCm39) S180P probably damaging Het
Hcn1 T C 13: 117,739,270 (GRCm39) S11P unknown Het
Hectd4 A G 5: 121,456,819 (GRCm39) E728G possibly damaging Het
Ints14 A T 9: 64,880,532 (GRCm39) H213L possibly damaging Het
Itih1 A T 14: 30,659,047 (GRCm39) M323K possibly damaging Het
Ivl A G 3: 92,479,085 (GRCm39) S327P probably damaging Het
Kcnt2 T A 1: 140,437,203 (GRCm39) N545K probably benign Het
Kdm4b A T 17: 56,696,534 (GRCm39) R417W probably damaging Het
Kif13a T C 13: 46,932,444 (GRCm39) E1083G probably damaging Het
Klhl40 A T 9: 121,607,623 (GRCm39) H261L probably benign Het
Kpnb1 A G 11: 97,066,573 (GRCm39) probably null Het
Lamc3 C A 2: 31,804,983 (GRCm39) T621N probably benign Het
Lingo3 T C 10: 80,670,595 (GRCm39) H445R probably benign Het
Ly75 G A 2: 60,144,572 (GRCm39) T1297I possibly damaging Het
Lypd6 C T 2: 50,080,759 (GRCm39) T149M possibly damaging Het
Mcrs1 A T 15: 99,146,613 (GRCm39) D139E probably damaging Het
Muc5b G A 7: 141,414,737 (GRCm39) S2561N unknown Het
Mybpc1 C T 10: 88,358,865 (GRCm39) G1095R probably damaging Het
Myh1 A G 11: 67,093,398 (GRCm39) Y163C probably damaging Het
Notch4 T A 17: 34,801,483 (GRCm39) C1110* probably null Het
Nt5el T A 13: 105,246,291 (GRCm39) V284E probably benign Het
Or12j2 A T 7: 139,916,143 (GRCm39) I123F probably damaging Het
Or2ag1 C T 7: 106,313,825 (GRCm39) S21N probably benign Het
Or2ag1 T A 7: 106,313,826 (GRCm39) S21C Het
Or4c10b A G 2: 89,711,409 (GRCm39) I80V probably benign Het
Pcsk1 T A 13: 75,238,210 (GRCm39) C10* probably null Het
Pdlim5 A T 3: 142,017,948 (GRCm39) S107T probably benign Het
Plac8l1 T A 18: 42,313,445 (GRCm39) D99V probably damaging Het
Plin2 A T 4: 86,575,349 (GRCm39) V400E probably damaging Het
Plxna1 G A 6: 89,334,102 (GRCm39) P176S probably benign Het
Pnn A G 12: 59,117,223 (GRCm39) K238R probably damaging Het
Pou5f1 A G 17: 35,820,933 (GRCm39) E231G probably benign Het
Ppara A T 15: 85,682,077 (GRCm39) M258L probably benign Het
Prune2 G A 19: 17,097,882 (GRCm39) D1129N probably damaging Het
Rai14 G A 15: 10,633,249 (GRCm39) T47M probably damaging Het
Rdh5 T C 10: 128,753,969 (GRCm39) I117V probably benign Het
Rpain G A 11: 70,864,724 (GRCm39) C137Y probably damaging Het
Scn3a A G 2: 65,361,154 (GRCm39) V126A possibly damaging Het
Senp7 G T 16: 55,932,089 (GRCm39) L129F probably damaging Het
Setd1a A G 7: 127,390,399 (GRCm39) D1025G unknown Het
Sirt4 A T 5: 115,621,082 (GRCm39) V30E probably damaging Het
Slit1 C A 19: 41,715,512 (GRCm39) R113L probably damaging Het
Stxbp5l G A 16: 37,028,416 (GRCm39) T549I noncoding transcript Het
Sytl2 A G 7: 90,058,678 (GRCm39) M926V probably damaging Het
Tgfbr2 C T 9: 115,959,074 (GRCm39) W113* probably null Het
Tmem86a A G 7: 46,703,512 (GRCm39) Y213C probably damaging Het
Tpo T A 12: 30,154,045 (GRCm39) Y220F probably damaging Het
Ttc6 C A 12: 57,720,096 (GRCm39) A889E probably damaging Het
Tyw1 A G 5: 130,328,855 (GRCm39) D547G probably benign Het
Ubtfl1 A G 9: 18,320,523 (GRCm39) K17R probably benign Het
Usp46 T A 5: 74,163,354 (GRCm39) I331F probably benign Het
Vmn2r111 T C 17: 22,792,073 (GRCm39) H61R probably benign Het
Wdr75 T A 1: 45,861,706 (GRCm39) N715K probably benign Het
Wdr97 C A 15: 76,247,819 (GRCm39) F1614L Het
Zfp772 A T 7: 7,207,096 (GRCm39) C198* probably null 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
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
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'- CACTGGGAAGACAGACAATTGC -3'
(R):5'- CTGTGGGAGAAGACAGTCATTTG -3'

Sequencing Primer
(F):5'- GACAGACAATTGCAGTTTGCTTG -3'
(R):5'- ACAGTCATTTGGTAGTCAGTGTCCC -3'
Posted On 2020-07-13