Incidental Mutation 'R7487:Alk'
ID 580294
Institutional Source Beutler Lab
Gene Symbol Alk
Ensembl Gene ENSMUSG00000055471
Gene Name anaplastic lymphoma kinase
Synonyms CD246, Tcrz
MMRRC Submission 045561-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R7487 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 72175967-72911622 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72256893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 655 (K655N)
Ref Sequence ENSEMBL: ENSMUSP00000083840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086639]
AlphaFold P97793
Predicted Effect probably benign
Transcript: ENSMUST00000086639
AA Change: K655N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000083840
Gene: ENSMUSG00000055471
AA Change: K655N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (89/89)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A T 3: 137,772,629 (GRCm39) D606V probably damaging Het
1700009N14Rik T A 4: 39,450,929 (GRCm39) V45E probably damaging Het
2510009E07Rik C T 16: 21,472,479 (GRCm39) V74M probably damaging Het
Abca2 C T 2: 25,327,915 (GRCm39) T739M probably benign Het
Abra T C 15: 41,732,949 (GRCm39) E39G probably damaging Het
Adam34 A T 8: 44,104,191 (GRCm39) C485S probably damaging Het
Add2 G T 6: 86,070,432 (GRCm39) V175F possibly damaging Het
Ap3m1 A G 14: 21,088,107 (GRCm39) V317A probably benign Het
Astn1 A G 1: 158,438,352 (GRCm39) probably null Het
Atm A T 9: 53,435,654 (GRCm39) Y219N probably benign Het
Cep128 C T 12: 90,966,404 (GRCm39) A1068T probably benign Het
Cep20 T C 16: 14,128,968 (GRCm39) D85G probably benign Het
Cnksr3 T C 10: 7,085,097 (GRCm39) Q250R probably benign Het
Cst7 A G 2: 150,419,624 (GRCm39) T97A probably benign Het
Ctps1 G A 4: 120,415,997 (GRCm39) L209F probably damaging Het
Cyp2d10 A T 15: 82,288,793 (GRCm39) F230I probably benign Het
Daam2 T C 17: 49,793,510 (GRCm39) N336D probably benign Het
Dchs2 T C 3: 83,263,613 (GRCm39) S3294P probably damaging Het
Dhx36 G T 3: 62,391,623 (GRCm39) N574K possibly damaging Het
Dock10 G T 1: 80,562,765 (GRCm39) Q533K probably benign Het
Dync2h1 A G 9: 7,132,041 (GRCm39) S1589P probably benign Het
Enpp3 T A 10: 24,681,821 (GRCm39) Y295F probably benign Het
Esrrg T A 1: 187,878,620 (GRCm39) Y234N probably benign Het
Fadd A C 7: 144,134,462 (GRCm39) V141G probably damaging Het
Fam114a2 C T 11: 57,404,515 (GRCm39) G83D probably damaging Het
Fam170b T A 14: 32,557,776 (GRCm39) C204S probably damaging Het
Fam186a T A 15: 99,840,017 (GRCm39) I2076F possibly damaging Het
Fdxacb1 G A 9: 50,681,519 (GRCm39) V147I possibly damaging Het
Frem2 C A 3: 53,561,970 (GRCm39) V846F probably benign Het
Fry G A 5: 150,338,039 (GRCm39) S1449N possibly damaging Het
Gucy1b2 A G 14: 62,685,672 (GRCm39) F98L probably damaging Het
Hps1 T C 19: 42,744,700 (GRCm39) Y658C probably damaging Het
Igkv3-9 T A 6: 70,565,506 (GRCm39) L35Q probably damaging Het
Irx2 A G 13: 72,778,739 (GRCm39) Y101C probably damaging Het
Kcnj11 G T 7: 45,748,265 (GRCm39) R353S probably benign Het
Kyat3 C T 3: 142,431,955 (GRCm39) Q228* probably null Het
Lama3 T A 18: 12,552,294 (GRCm39) D415E probably benign Het
Lcn3 G A 2: 25,656,174 (GRCm39) probably null Het
Lin7b T C 7: 45,019,364 (GRCm39) E68G possibly damaging Het
Lmbr1 T A 5: 29,459,262 (GRCm39) K379M probably benign Het
Lrig1 A G 6: 94,583,099 (GRCm39) S1006P probably benign Het
Lrrc37a T G 11: 103,389,045 (GRCm39) T2127P unknown Het
Map4 A G 9: 109,856,783 (GRCm39) D151G probably damaging Het
Marchf1 A T 8: 66,908,726 (GRCm39) T149S probably benign Het
Msh4 A T 3: 153,569,147 (GRCm39) F809I probably damaging Het
Muc16 G A 9: 18,496,095 (GRCm39) P6699S possibly damaging Het
Mxi1 A T 19: 53,360,088 (GRCm39) D270V probably damaging Het
Myh6 A T 14: 55,190,953 (GRCm39) C907* probably null Het
Myo18b T C 5: 112,982,299 (GRCm39) R1145G possibly damaging Het
Nkx2-6 A C 14: 69,409,389 (GRCm39) N47H probably benign Het
Nol7 G A 13: 43,552,076 (GRCm39) A66T probably damaging Het
Ntrk3 T C 7: 77,900,461 (GRCm39) N626S probably damaging Het
Nwd1 A G 8: 73,393,266 (GRCm39) Y77C unknown Het
Or12d17 G T 17: 37,777,457 (GRCm39) R120L probably damaging Het
Or12k5 A C 2: 36,894,786 (GRCm39) V280G probably damaging Het
Or8c14-ps1 A G 9: 38,101,356 (GRCm39) S112G probably damaging Het
Or8j3b A T 2: 86,205,475 (GRCm39) Y94N probably damaging Het
Or9s23 G A 1: 92,501,517 (GRCm39) G208D possibly damaging Het
Otop3 A G 11: 115,235,826 (GRCm39) D486G probably benign Het
Pak1ip1 A G 13: 41,162,731 (GRCm39) K178R probably benign Het
Pcsk1 G A 13: 75,259,002 (GRCm39) G259S probably benign Het
Pde6a A G 18: 61,383,031 (GRCm39) D338G probably damaging Het
Pias4 A T 10: 80,999,806 (GRCm39) D82E probably benign Het
Plekha5 C A 6: 140,516,059 (GRCm39) Q771K probably benign Het
Plekhh3 C A 11: 101,056,405 (GRCm39) A397S possibly damaging Het
Prg4 G T 1: 150,331,656 (GRCm39) T339N unknown Het
Prss22 A T 17: 24,216,971 (GRCm39) I3N probably damaging Het
Rasgrp1 T C 2: 117,118,424 (GRCm39) I522V probably damaging Het
Rspo2 T C 15: 42,941,510 (GRCm39) T138A probably benign Het
Rtcb C T 10: 85,789,333 (GRCm39) G70S probably benign Het
Selenov A T 7: 27,989,803 (GRCm39) S234T probably damaging Het
Shtn1 T C 19: 58,992,292 (GRCm39) T429A probably damaging Het
Slc4a3 G T 1: 75,530,021 (GRCm39) R622L probably benign Het
Smc2 T C 4: 52,478,448 (GRCm39) I1015T probably damaging Het
Spata9 G T 13: 76,115,959 (GRCm39) V3F possibly damaging Het
Tlr4 T C 4: 66,842,659 (GRCm39) I105T probably benign Het
Trav6d-4 A T 14: 52,991,096 (GRCm39) Y47F possibly damaging Het
Ttn A T 2: 76,657,377 (GRCm39) I12450N unknown Het
Umad1 G T 6: 8,270,560 (GRCm39) A21S probably damaging Het
Unc5a G A 13: 55,144,362 (GRCm39) R229H probably benign Het
Vmn1r216 A T 13: 23,284,030 (GRCm39) M238L probably damaging Het
Vps16 T A 2: 130,280,977 (GRCm39) C255* probably null Het
Wdr89 A G 12: 75,679,388 (GRCm39) F289L probably benign Het
Zfp180 A T 7: 23,805,525 (GRCm39) H648L probably damaging Het
Zfp735 A G 11: 73,581,154 (GRCm39) K64E possibly damaging Het
Zfp990 G A 4: 145,264,157 (GRCm39) C385Y probably damaging Het
Zswim3 G T 2: 164,662,135 (GRCm39) S205I probably damaging 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
R5888:Alk UTSW 17 72,181,938 (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
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'- TGCCTCTTCTCGAGACCAAC -3'
(R):5'- CCCCAATTTCAGTGACTTATGG -3'

Sequencing Primer
(F):5'- GACCAACCATTTTCTTTTAACCACAG -3'
(R):5'- CAGTGACTTATGGTCTTACCTCTAG -3'
Posted On 2019-10-07