Incidental Mutation 'R3700:Alpk2'
ID 269983
Institutional Source Beutler Lab
Gene Symbol Alpk2
Ensembl Gene ENSMUSG00000032845
Gene Name alpha-kinase 2
Synonyms Hak
MMRRC Submission 040693-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3700 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 65398600-65526959 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 65438222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 1524 (T1524I)
Ref Sequence ENSEMBL: ENSMUSP00000048752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035548] [ENSMUST00000141250]
AlphaFold Q91ZB0
Predicted Effect probably damaging
Transcript: ENSMUST00000035548
AA Change: T1524I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048752
Gene: ENSMUSG00000032845
AA Change: T1524I

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: T1057I

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000114658
Gene: ENSMUSG00000032845
AA Change: T1057I

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
Meta Mutation Damage Score 0.1169 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 98% (51/52)
Allele List at MGI

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

Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd29 G A 18: 12,387,757 (GRCm39) A275V possibly damaging Het
Arhgap26 T A 18: 39,253,237 (GRCm39) F221L probably damaging Het
Arhgap28 T C 17: 68,208,361 (GRCm39) S36G probably damaging Het
Bcl11a A G 11: 24,113,890 (GRCm39) D411G probably damaging Het
Cdh23 C A 10: 60,163,149 (GRCm39) probably null Het
Cnnm2 T A 19: 46,750,990 (GRCm39) I260N probably damaging Het
Coro6 T C 11: 77,358,129 (GRCm39) F238S probably damaging Het
Ddah1 G A 3: 145,597,250 (GRCm39) M162I probably benign Het
Dnah5 T C 15: 28,387,937 (GRCm39) I3132T possibly damaging Het
Drgx A T 14: 32,350,818 (GRCm39) E218V probably damaging Het
Dync2i1 C T 12: 116,175,462 (GRCm39) W905* probably null Het
Eif3f A T 7: 108,539,482 (GRCm39) I251F probably benign Het
Ephx4 T C 5: 107,550,673 (GRCm39) F11L probably benign Het
Esp1 T C 17: 41,041,998 (GRCm39) S97P unknown Het
Fbxw10 A T 11: 62,759,983 (GRCm39) probably null Het
Hsp90ab1 T C 17: 45,882,440 (GRCm39) T85A possibly damaging Het
Idh2 T C 7: 79,748,895 (GRCm39) K129E probably damaging Het
Kcnj6 A G 16: 94,633,865 (GRCm39) I64T probably damaging Het
Klk1b5 T A 7: 43,500,251 (GRCm39) C280S probably damaging Het
Lhx2 T A 2: 38,250,111 (GRCm39) L269H probably damaging Het
Lrrc71 T A 3: 87,653,185 (GRCm39) probably null Het
Lss T A 10: 76,382,026 (GRCm39) L484Q probably damaging Het
Mmp14 G A 14: 54,669,389 (GRCm39) probably benign Het
Muc5b A G 7: 141,400,986 (GRCm39) T534A unknown Het
Mysm1 T C 4: 94,858,889 (GRCm39) K87E probably benign Het
Or6d13 T A 6: 116,517,489 (GRCm39) V25E probably benign Het
Or6f2 C G 7: 139,756,127 (GRCm39) F37L possibly damaging Het
Pcolce T C 5: 137,607,309 (GRCm39) T61A probably damaging Het
Phc3 C A 3: 30,968,277 (GRCm39) D920Y probably damaging Het
Pi4kb T C 3: 94,901,599 (GRCm39) I422T probably benign Het
Piezo1 C T 8: 123,221,642 (GRCm39) R584H probably damaging Het
Plce1 T A 19: 38,693,781 (GRCm39) F768Y probably damaging Het
Ppp1r21 T C 17: 88,889,882 (GRCm39) S709P possibly damaging Het
Prdx6 T C 1: 161,074,858 (GRCm39) D74G probably damaging Het
Rlf A G 4: 121,008,060 (GRCm39) F307L possibly damaging Het
Skic2 T C 17: 35,068,879 (GRCm39) E40G probably benign Het
Snapin G A 3: 90,397,499 (GRCm39) R91* probably null Het
Sort1 T A 3: 108,263,955 (GRCm39) L838* probably null Het
Sstr4 A G 2: 148,238,273 (GRCm39) I295V possibly damaging Het
Stk39 T A 2: 68,222,462 (GRCm39) I201F probably damaging Het
Tasp1 T C 2: 139,752,474 (GRCm39) T322A probably benign Het
Tepsin C T 11: 119,982,579 (GRCm39) C491Y possibly damaging Het
Tlr9 G A 9: 106,101,278 (GRCm39) V190M probably damaging Het
Ttf2 A G 3: 100,858,324 (GRCm39) L755P probably damaging Het
Txn2 G A 15: 77,811,976 (GRCm39) T60M possibly damaging Het
Vmn1r10 A G 6: 57,091,287 (GRCm39) N293S probably benign Het
Vmn1r232 A G 17: 21,134,465 (GRCm39) L45P probably benign Het
Vmn2r111 C T 17: 22,790,142 (GRCm39) W288* probably null Het
Vmn2r118 T C 17: 55,915,421 (GRCm39) S510G possibly damaging Het
Zgpat T A 2: 181,007,439 (GRCm39) probably benign Het
Zzef1 G T 11: 72,777,598 (GRCm39) G1810C 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
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'- AGGCCATGGCTTATTGACAAG -3'
(R):5'- CAGAAGCTGTTGTTTGGCAG -3'

Sequencing Primer
(F):5'- GACAAGCGTGTGACATTTCC -3'
(R):5'- TGTTTGGCAGGCCCAGG -3'
Posted On 2015-03-18