Incidental Mutation 'R4921:Alk'
ID 378648
Institutional Source Beutler Lab
Gene Symbol Alk
Ensembl Gene ENSMUSG00000055471
Gene Name anaplastic lymphoma kinase
Synonyms CD246, Tcrz
MMRRC Submission 042523-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R4921 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 72175967-72911622 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72211310 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 857 (T857A)
Ref Sequence ENSEMBL: ENSMUSP00000083840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086639]
AlphaFold P97793
Predicted Effect probably benign
Transcript: ENSMUST00000086639
AA Change: T857A

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000083840
Gene: ENSMUSG00000055471
AA Change: T857A

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: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.3%
Validation Efficiency
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,885,662 (GRCm39) N65K probably benign Het
Abcc9 T C 6: 142,536,162 (GRCm39) Y1524C probably benign Het
Acap1 A G 11: 69,778,019 (GRCm39) I102T probably damaging Het
Acvr2a T C 2: 48,783,553 (GRCm39) V284A possibly damaging Het
Adam3 T C 8: 25,174,630 (GRCm39) M712V probably benign Het
Adck1 T C 12: 88,407,908 (GRCm39) V213A probably benign Het
Adgrl3 G T 5: 81,659,957 (GRCm39) W242L probably damaging Het
Alms1 A G 6: 85,605,528 (GRCm39) T2393A probably benign Het
Ank3 C T 10: 69,837,939 (GRCm39) P240L probably damaging Het
Ankrd35 C A 3: 96,592,140 (GRCm39) L809M possibly damaging Het
Birc6 T A 17: 74,957,094 (GRCm39) L3690Q probably damaging Het
Bmp3 C A 5: 99,019,920 (GRCm39) F114L probably damaging Het
Cage1 G A 13: 38,203,184 (GRCm39) H627Y probably benign Het
Cars1 T C 7: 143,123,212 (GRCm39) D468G probably damaging Het
Ccdc148 T C 2: 58,719,814 (GRCm39) E487G probably damaging Het
Ccdc80 A T 16: 44,938,530 (GRCm39) I746F probably damaging Het
Ccl25 A G 8: 4,403,913 (GRCm39) Q119R possibly damaging Het
Cdh24 C T 14: 54,870,672 (GRCm39) D178N probably damaging Het
Cdk12 A T 11: 98,113,513 (GRCm39) T766S unknown Het
Chst15 T A 7: 131,849,613 (GRCm39) T443S probably benign Het
Cnbp T C 6: 87,822,128 (GRCm39) D125G possibly damaging Het
Cntn2 A T 1: 132,443,770 (GRCm39) V1003E possibly damaging Het
Crct1 A G 3: 92,922,132 (GRCm39) probably benign Het
Dand5 C T 8: 85,543,113 (GRCm39) C121Y probably damaging Het
Dmkn A T 7: 30,470,658 (GRCm39) D382V probably damaging Het
Dnase2b T A 3: 146,299,196 (GRCm39) T86S probably damaging Het
Dusp8 GCCACCACCACCACCACCACCACC GCCACCACCACCACCACCACC 7: 141,635,891 (GRCm39) probably benign Het
Eef1akmt1 C T 14: 57,788,089 (GRCm39) V90M probably damaging Het
Egfl7 G T 2: 26,480,992 (GRCm39) W168L probably benign Het
Ep400 A G 5: 110,813,676 (GRCm39) C2908R probably damaging Het
Espl1 A G 15: 102,223,676 (GRCm39) K1076E probably damaging Het
Exoc4 A G 6: 33,887,452 (GRCm39) N747D probably benign Het
Fancm T C 12: 65,123,915 (GRCm39) V191A probably benign Het
Fbxo17 A G 7: 28,432,214 (GRCm39) D97G probably benign Het
Fer1l6 G T 15: 58,472,160 (GRCm39) probably null Het
Flt4 T C 11: 49,517,970 (GRCm39) W337R probably damaging Het
Fpr-rs7 T C 17: 20,334,082 (GRCm39) H136R possibly damaging Het
Frem3 T A 8: 81,339,765 (GRCm39) I686N possibly damaging Het
Galnt9 A G 5: 110,725,315 (GRCm39) K84R probably damaging Het
Gfm2 T A 13: 97,312,184 (GRCm39) M760K probably damaging Het
Glis3 T C 19: 28,643,504 (GRCm39) T13A probably damaging Het
H2-K2 A G 17: 34,216,050 (GRCm39) V323A possibly damaging Het
Hbb-bs G A 7: 103,475,927 (GRCm39) A130V probably damaging Het
Herc2 T A 7: 55,879,438 (GRCm39) H4685Q probably benign Het
Ighv5-9-1 C T 12: 113,699,914 (GRCm39) R56H possibly damaging Het
Itgb4 A G 11: 115,897,431 (GRCm39) N1548S probably benign Het
Itpr3 T C 17: 27,316,979 (GRCm39) Y745H probably damaging Het
Kank3 G T 17: 34,036,174 (GRCm39) G14V probably damaging Het
Kif24 G T 4: 41,394,329 (GRCm39) S982Y probably damaging Het
Kifc5b C T 17: 27,139,997 (GRCm39) R53W probably damaging Het
Krt39 A G 11: 99,405,575 (GRCm39) S442P possibly damaging Het
Lcat G A 8: 106,669,074 (GRCm39) P67L possibly damaging Het
Maml2 T C 9: 13,532,471 (GRCm39) S562P probably damaging Het
Map3k8 G A 18: 4,349,124 (GRCm39) R65W possibly damaging Het
Mbd3 G T 10: 80,231,410 (GRCm39) R12S probably damaging Het
Msr1 T C 8: 40,077,292 (GRCm39) E106G possibly damaging Het
Myh4 T A 11: 67,144,854 (GRCm39) L1256Q probably damaging Het
Mypn G A 10: 62,983,715 (GRCm39) T511M possibly damaging Het
Nub1 A T 5: 24,906,467 (GRCm39) N331I probably benign Het
Nup107 A G 10: 117,606,416 (GRCm39) V440A possibly damaging Het
Ofcc1 A G 13: 40,367,993 (GRCm39) F174L probably benign Het
Or10d5 A C 9: 39,861,521 (GRCm39) V182G probably damaging Het
Or52ab2 A T 7: 102,969,750 (GRCm39) N44I probably damaging Het
Or9q2 T C 19: 13,772,829 (GRCm39) I49V probably benign Het
Parp2 C A 14: 51,056,725 (GRCm39) L310I probably damaging Het
Pcdh20 A G 14: 88,707,162 (GRCm39) V46A probably benign Het
Pcdhgb6 A G 18: 37,876,525 (GRCm39) D411G probably damaging Het
Pkd1l2 T C 8: 117,781,624 (GRCm39) E807G probably benign Het
Pkd1l2 A T 8: 117,799,288 (GRCm39) N267K probably damaging Het
Pramel24 A T 4: 143,454,896 (GRCm39) K398M possibly damaging Het
Rell1 C A 5: 64,093,376 (GRCm39) M126I probably damaging Het
Robo4 G A 9: 37,313,856 (GRCm39) E36K probably benign Het
Rpgrip1l T C 8: 91,987,637 (GRCm39) S807G probably benign Het
Rpl10a T C 17: 28,549,826 (GRCm39) V169A probably benign Het
Rubcn C T 16: 32,667,664 (GRCm39) V166I probably damaging Het
Sall2 T C 14: 52,552,850 (GRCm39) E113G possibly damaging Het
Sars2 T C 7: 28,451,863 (GRCm39) S423P possibly damaging Het
Scaper A G 9: 55,799,519 (GRCm39) I182T probably benign Het
Selp A G 1: 163,968,966 (GRCm39) D522G possibly damaging Het
Sema4b T A 7: 79,848,504 (GRCm39) I35N possibly damaging Het
Sgce A T 6: 4,694,153 (GRCm39) F268I probably damaging Het
Slc14a2 G T 18: 78,235,403 (GRCm39) A258E probably damaging Het
Slc17a9 T C 2: 180,377,742 (GRCm39) Y213H probably benign Het
Slc22a7 T G 17: 46,747,859 (GRCm39) I233L probably benign Het
Slc35f1 A G 10: 52,938,698 (GRCm39) Q210R probably damaging Het
Slc6a21 A G 7: 44,937,734 (GRCm39) E350G possibly damaging Het
Spata21 A T 4: 140,839,402 (GRCm39) D639V probably damaging Het
Svil A G 18: 5,108,631 (GRCm39) D1519G probably damaging Het
Tbccd1 T C 16: 22,660,649 (GRCm39) T56A probably benign Het
Tigit A T 16: 43,482,380 (GRCm39) I118N probably damaging Het
Tlr11 A T 14: 50,600,342 (GRCm39) Q776L possibly damaging Het
Tspan12 A C 6: 21,835,448 (GRCm39) I9S possibly damaging Het
Unc5c T A 3: 141,494,727 (GRCm39) Y347N probably damaging Het
Unk A G 11: 115,945,771 (GRCm39) T481A probably benign Het
Vmn1r192 A C 13: 22,371,650 (GRCm39) V190G probably damaging Het
Vnn3 A T 10: 23,740,473 (GRCm39) M259L probably benign Het
Zan T C 5: 137,406,632 (GRCm39) probably benign Het
Zdhhc6 T C 19: 55,301,642 (GRCm39) H113R 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
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
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'- ATAGCTTCAGAGGCAACAGG -3'
(R):5'- AATTTGGGACCCGCAAACC -3'

Sequencing Primer
(F):5'- GGCCCCTGAGAAATTTCT -3'
(R):5'- CCACAGATGGGGAAGTCACC -3'
Posted On 2016-04-15