Incidental Mutation 'R5888:Alk'
ID 501622
Institutional Source Beutler Lab
Gene Symbol Alk
Ensembl Gene ENSMUSG00000055471
Gene Name anaplastic lymphoma kinase
Synonyms CD246, Tcrz
MMRRC Submission 044089-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R5888 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 72175967-72911622 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 72181938 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 1362 (V1362L)
Ref Sequence ENSEMBL: ENSMUSP00000083840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086639]
AlphaFold P97793
Predicted Effect probably damaging
Transcript: ENSMUST00000086639
AA Change: V1362L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083840
Gene: ENSMUSG00000055471
AA Change: V1362L

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 99 109 N/A INTRINSIC
low complexity region 230 242 N/A INTRINSIC
Pfam:MAM 270 431 5.6e-10 PFAM
LDLa 441 477 5.59e-3 SMART
Pfam:MAM 484 640 5.6e-22 PFAM
Pfam:Gly_rich 730 996 8.6e-19 PFAM
low complexity region 1037 1057 N/A INTRINSIC
TyrKc 1120 1387 2.76e-140 SMART
low complexity region 1440 1480 N/A INTRINSIC
low complexity region 1551 1570 N/A INTRINSIC
Meta Mutation Damage Score 0.1474 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 94% (96/102)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a null allele show increased ethanol consumption and increased sedation in response to ethanol. Male mice homozygous for a different null allele show delayed puberty, hypogonadotropic hypogonadism, reduced serum testosterone levels, and altered seminiferous tubule morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 T A 11: 7,089,095 (GRCm39) V503E possibly damaging Het
Ankrd55 T A 13: 112,492,453 (GRCm39) I208N possibly damaging Het
Asap2 T A 12: 21,268,191 (GRCm39) I319N probably damaging Het
Atp11b T C 3: 35,891,696 (GRCm39) I1036T probably benign Het
B4gat1 T C 19: 5,089,560 (GRCm39) F186L probably benign Het
C3 T A 17: 57,521,831 (GRCm39) T1079S probably damaging Het
Cacul1 G T 19: 60,525,902 (GRCm39) T287K possibly damaging Het
Cbr3 G C 16: 93,487,614 (GRCm39) G266R probably damaging Het
Cd63 T A 10: 128,748,160 (GRCm39) probably null Het
Chd7 G A 4: 8,866,382 (GRCm39) M851I probably damaging Het
Chst13 T A 6: 90,286,554 (GRCm39) H136L probably benign Het
Cyp2d22 T C 15: 82,258,014 (GRCm39) T179A probably benign Het
Dclre1b A T 3: 103,711,053 (GRCm39) V286E probably damaging Het
Defb45 G A 2: 152,435,154 (GRCm39) probably benign Het
Dlg1 T C 16: 31,610,704 (GRCm39) probably null Het
Dock3 A G 9: 106,901,002 (GRCm39) V321A probably benign Het
Dytn A T 1: 63,716,396 (GRCm39) V59E possibly damaging Het
Efcab3 T C 11: 104,612,227 (GRCm39) probably benign Het
Eif2ak1 A G 5: 143,823,733 (GRCm39) I393M probably damaging Het
Fam83g A T 11: 61,593,420 (GRCm39) E318V probably benign Het
Fbxo34 T A 14: 47,767,176 (GRCm39) F179I probably damaging Het
Fmo5 T A 3: 97,549,041 (GRCm39) Y230N probably benign Het
Fzd9 T G 5: 135,278,317 (GRCm39) probably null Het
Gata2 T C 6: 88,177,722 (GRCm39) S251P probably benign Het
Gigyf1 A G 5: 137,523,959 (GRCm39) D1043G probably damaging Het
Gm10322 T A 10: 59,452,125 (GRCm39) S81T probably benign Het
Gm15517 A T 7: 43,910,066 (GRCm39) probably benign Het
Haus4 T C 14: 54,781,676 (GRCm39) T232A probably benign Het
Hgfac A T 5: 35,202,751 (GRCm39) H417L probably damaging Het
Iqgap2 T C 13: 95,772,118 (GRCm39) K1354E possibly damaging Het
Kcnk12 C A 17: 88,054,077 (GRCm39) R195L probably benign Het
Kcnn2 A T 18: 45,725,412 (GRCm39) I303F probably damaging Het
Kcnt1 T C 2: 25,798,122 (GRCm39) F879S probably damaging Het
Kndc1 T C 7: 139,475,133 (GRCm39) F11L probably benign Het
Kpna7 A G 5: 144,926,605 (GRCm39) F449S probably damaging Het
Krt77 G T 15: 101,773,888 (GRCm39) N255K probably benign Het
Lair1 A T 7: 4,013,844 (GRCm39) D134E probably damaging Het
Loxhd1 T C 18: 77,490,211 (GRCm39) V1318A probably damaging Het
Marchf10 A T 11: 105,292,972 (GRCm39) V145D possibly damaging Het
Mcpt1 T A 14: 56,256,969 (GRCm39) M169K probably benign Het
Mdc1 T A 17: 36,158,712 (GRCm39) V364E probably benign Het
Mfsd11 T C 11: 116,762,210 (GRCm39) F270S probably damaging Het
Mfsd4b2 T G 10: 39,798,031 (GRCm39) D108A probably benign Het
Mink1 A T 11: 70,500,885 (GRCm39) probably benign Het
Mmp25 T C 17: 23,850,048 (GRCm39) Y504C probably damaging Het
Ms4a13 C T 19: 11,168,870 (GRCm39) V52I probably benign Het
Msh4 C T 3: 153,573,360 (GRCm39) probably null Het
Muc5b T G 7: 141,412,158 (GRCm39) S1701R unknown Het
Naalad2 A T 9: 18,241,937 (GRCm39) S656T probably benign Het
Ncapd2 T C 6: 125,164,052 (GRCm39) Y64C probably damaging Het
Ncapg2 T A 12: 116,389,420 (GRCm39) S347T possibly damaging Het
Ndufb11b T C 15: 81,864,872 (GRCm39) S38P probably benign Het
Nipal4 T C 11: 46,042,166 (GRCm39) T172A probably damaging Het
Nrros T C 16: 31,961,905 (GRCm39) K652R probably benign Het
Nrxn3 G T 12: 89,478,855 (GRCm39) A983S possibly damaging Het
Or4a76 T A 2: 89,461,143 (GRCm39) Y33F probably damaging Het
Or4ac1-ps1 T C 2: 88,370,588 (GRCm39) noncoding transcript Het
Or4c115 T A 2: 88,928,269 (GRCm39) M1L probably damaging Het
Or4k77 T C 2: 111,199,088 (GRCm39) M37T probably benign Het
Or51m1 A G 7: 103,578,239 (GRCm39) T70A possibly damaging Het
Or8g24 A T 9: 38,989,263 (GRCm39) Y259* probably null Het
Or8k37 A C 2: 86,469,488 (GRCm39) L188R probably damaging Het
P2rx4 T A 5: 122,857,228 (GRCm39) S155T probably benign Het
P2rx4 T G 5: 122,865,271 (GRCm39) Y299D probably damaging Het
Pcsk6 A T 7: 65,693,372 (GRCm39) L7F probably null Het
Pdss2 T C 10: 43,097,793 (GRCm39) silent Het
Pfkl A G 10: 77,827,204 (GRCm39) V494A possibly damaging Het
Prep G T 10: 44,943,460 (GRCm39) D12Y possibly damaging Het
Prg4 A G 1: 150,328,101 (GRCm39) F188S probably damaging Het
Ripor3 T C 2: 167,839,207 (GRCm39) Y98C probably damaging Het
Rnf216 T A 5: 143,054,069 (GRCm39) probably null Het
Rnf24 A G 2: 131,164,165 (GRCm39) probably benign Het
Rps18-ps6 G A 13: 97,896,901 (GRCm39) R66* probably null Het
Scn3a A G 2: 65,327,742 (GRCm39) M916T probably benign Het
Scnm1 T C 3: 95,037,596 (GRCm39) I157V probably benign Het
Sh2b3 C G 5: 121,967,084 (GRCm39) R10P possibly damaging Het
Slc25a27 T C 17: 43,960,585 (GRCm39) D211G probably damaging Het
Slc36a4 A T 9: 15,638,324 (GRCm39) Y250F probably damaging Het
Slc4a1 T A 11: 102,247,351 (GRCm39) E448V probably damaging Het
Slit1 C A 19: 41,731,735 (GRCm39) C38F probably damaging Het
Spock3 T A 8: 63,808,334 (GRCm39) N410K unknown Het
Supt20 G T 3: 54,619,628 (GRCm39) W370L probably benign Het
Tas2r139 T A 6: 42,118,430 (GRCm39) N187K probably damaging Het
Tbc1d9b G A 11: 50,031,311 (GRCm39) V111I probably benign Het
Thsd7b T A 1: 130,138,057 (GRCm39) Y1578* probably null Het
Tln2 T A 9: 67,136,685 (GRCm39) I1267F probably damaging Het
Tnk2 G A 16: 32,490,185 (GRCm39) V363I probably damaging Het
Ttc32 A G 12: 9,085,870 (GRCm39) K139R possibly damaging Het
Vmn1r30 G C 6: 58,412,550 (GRCm39) T94S possibly damaging Het
Vmn1r90 G A 7: 14,295,780 (GRCm39) T106I probably damaging Het
Zfp677 T A 17: 21,618,520 (GRCm39) C526S probably damaging Het
Zfp831 T G 2: 174,485,420 (GRCm39) S32A probably benign Het
Other mutations in Alk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Alk APN 17 72,202,743 (GRCm39) missense probably damaging 1.00
IGL00796:Alk APN 17 72,212,137 (GRCm39) missense possibly damaging 0.88
IGL01096:Alk APN 17 72,228,891 (GRCm39) missense possibly damaging 0.87
IGL01367:Alk APN 17 72,207,781 (GRCm39) missense probably damaging 1.00
IGL01402:Alk APN 17 72,181,173 (GRCm39) missense probably damaging 1.00
IGL01652:Alk APN 17 72,910,526 (GRCm39) missense probably damaging 1.00
IGL01717:Alk APN 17 72,910,377 (GRCm39) missense probably benign
IGL02301:Alk APN 17 72,181,171 (GRCm39) missense probably damaging 0.99
IGL02403:Alk APN 17 72,208,388 (GRCm39) missense probably damaging 1.00
IGL02452:Alk APN 17 72,209,620 (GRCm39) nonsense probably null
IGL02724:Alk APN 17 72,292,455 (GRCm39) missense probably benign 0.00
IGL02826:Alk APN 17 72,176,531 (GRCm39) missense probably damaging 1.00
IGL02863:Alk APN 17 72,204,830 (GRCm39) missense probably damaging 1.00
IGL02994:Alk APN 17 72,256,815 (GRCm39) missense probably benign 0.00
IGL03329:Alk APN 17 72,206,159 (GRCm39) splice site probably benign
PIT4382001:Alk UTSW 17 72,256,916 (GRCm39) missense probably benign
R0157:Alk UTSW 17 72,256,840 (GRCm39) missense probably benign 0.00
R0211:Alk UTSW 17 72,910,511 (GRCm39) missense probably damaging 1.00
R0257:Alk UTSW 17 72,910,490 (GRCm39) missense probably damaging 1.00
R0269:Alk UTSW 17 72,910,578 (GRCm39) missense probably damaging 1.00
R0395:Alk UTSW 17 72,910,526 (GRCm39) missense probably damaging 0.99
R0414:Alk UTSW 17 72,206,281 (GRCm39) splice site probably benign
R0466:Alk UTSW 17 72,212,152 (GRCm39) missense possibly damaging 0.51
R0526:Alk UTSW 17 72,176,748 (GRCm39) missense probably damaging 1.00
R0617:Alk UTSW 17 72,910,578 (GRCm39) missense probably damaging 1.00
R0781:Alk UTSW 17 72,291,740 (GRCm39) splice site probably benign
R0830:Alk UTSW 17 72,910,195 (GRCm39) missense probably benign 0.01
R0835:Alk UTSW 17 72,176,837 (GRCm39) missense probably damaging 0.97
R0894:Alk UTSW 17 72,202,930 (GRCm39) missense probably damaging 1.00
R1110:Alk UTSW 17 72,291,740 (GRCm39) splice site probably benign
R1170:Alk UTSW 17 72,207,729 (GRCm39) missense probably damaging 1.00
R1573:Alk UTSW 17 72,910,113 (GRCm39) missense possibly damaging 0.69
R1667:Alk UTSW 17 72,218,562 (GRCm39) missense probably damaging 1.00
R1748:Alk UTSW 17 72,910,416 (GRCm39) missense probably benign 0.19
R1767:Alk UTSW 17 72,207,693 (GRCm39) missense possibly damaging 0.73
R1836:Alk UTSW 17 72,198,032 (GRCm39) missense probably damaging 1.00
R1861:Alk UTSW 17 72,181,933 (GRCm39) splice site probably benign
R2905:Alk UTSW 17 72,292,489 (GRCm39) missense probably benign 0.40
R2925:Alk UTSW 17 72,910,202 (GRCm39) missense probably benign
R3727:Alk UTSW 17 72,208,395 (GRCm39) splice site probably benign
R3747:Alk UTSW 17 72,218,560 (GRCm39) missense probably damaging 0.99
R3790:Alk UTSW 17 72,910,427 (GRCm39) missense possibly damaging 0.95
R3909:Alk UTSW 17 72,204,906 (GRCm39) missense probably benign 0.00
R3934:Alk UTSW 17 72,512,949 (GRCm39) missense probably damaging 1.00
R3936:Alk UTSW 17 72,512,949 (GRCm39) missense probably damaging 1.00
R3972:Alk UTSW 17 72,292,442 (GRCm39) missense probably benign 0.16
R4433:Alk UTSW 17 72,206,236 (GRCm39) nonsense probably null
R4716:Alk UTSW 17 72,512,937 (GRCm39) missense probably damaging 1.00
R4903:Alk UTSW 17 72,176,558 (GRCm39) missense probably damaging 1.00
R4921:Alk UTSW 17 72,211,310 (GRCm39) missense probably benign 0.30
R4954:Alk UTSW 17 72,209,687 (GRCm39) nonsense probably null
R5377:Alk UTSW 17 72,202,734 (GRCm39) missense probably damaging 1.00
R5386:Alk UTSW 17 72,182,007 (GRCm39) missense probably damaging 1.00
R5551:Alk UTSW 17 72,182,028 (GRCm39) missense possibly damaging 0.53
R5704:Alk UTSW 17 72,910,115 (GRCm39) missense probably damaging 1.00
R5877:Alk UTSW 17 72,274,521 (GRCm39) missense probably damaging 1.00
R6013:Alk UTSW 17 72,207,732 (GRCm39) missense probably benign 0.15
R6044:Alk UTSW 17 72,299,095 (GRCm39) missense probably benign 0.00
R6058:Alk UTSW 17 72,176,742 (GRCm39) missense probably benign 0.01
R6126:Alk UTSW 17 72,182,037 (GRCm39) missense possibly damaging 0.82
R6286:Alk UTSW 17 72,187,842 (GRCm39) missense probably damaging 0.98
R6744:Alk UTSW 17 72,910,077 (GRCm39) missense probably benign 0.35
R6989:Alk UTSW 17 72,204,947 (GRCm39) missense probably benign 0.00
R7487:Alk UTSW 17 72,256,893 (GRCm39) missense probably benign
R7573:Alk UTSW 17 72,207,787 (GRCm39) missense probably damaging 1.00
R7838:Alk UTSW 17 72,274,549 (GRCm39) missense possibly damaging 0.53
R8055:Alk UTSW 17 72,206,252 (GRCm39) missense probably benign 0.19
R8211:Alk UTSW 17 72,176,702 (GRCm39) missense probably benign
R8555:Alk UTSW 17 72,228,869 (GRCm39) missense probably damaging 1.00
R8676:Alk UTSW 17 72,204,936 (GRCm39) missense probably damaging 0.98
R8847:Alk UTSW 17 72,256,820 (GRCm39) missense probably benign 0.14
R8885:Alk UTSW 17 72,202,758 (GRCm39) missense probably damaging 1.00
R9177:Alk UTSW 17 72,181,190 (GRCm39) missense probably damaging 1.00
R9239:Alk UTSW 17 72,256,864 (GRCm39) missense probably benign 0.04
R9268:Alk UTSW 17 72,181,190 (GRCm39) missense probably damaging 1.00
R9682:Alk UTSW 17 72,182,058 (GRCm39) missense possibly damaging 0.95
RF013:Alk UTSW 17 72,202,931 (GRCm39) missense probably damaging 1.00
RF018:Alk UTSW 17 72,256,808 (GRCm39) missense probably benign 0.09
Z1088:Alk UTSW 17 72,512,802 (GRCm39) missense probably damaging 0.96
Z1177:Alk UTSW 17 72,910,058 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TTGATGGGCTGGAAAACTGAC -3'
(R):5'- TGCACACAGGAAAGGAGTCC -3'

Sequencing Primer
(F):5'- TGGGCTGGAAAACTGACCCATC -3'
(R):5'- GGAGTCCTTTGTTACAGAAAATGG -3'
Posted On 2017-12-01