Incidental Mutation 'R6989:Alk'
ID 543172
Institutional Source Beutler Lab
Gene Symbol Alk
Ensembl Gene ENSMUSG00000055471
Gene Name anaplastic lymphoma kinase
Synonyms CD246, Tcrz
MMRRC Submission 045095-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R6989 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 72175967-72911622 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 72204947 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 1075 (M1075R)
Ref Sequence ENSEMBL: ENSMUSP00000083840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086639]
AlphaFold P97793
Predicted Effect probably benign
Transcript: ENSMUST00000086639
AA Change: M1075R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000083840
Gene: ENSMUSG00000055471
AA Change: M1075R

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: 99.9%
  • 10x: 99.3%
  • 20x: 97.4%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik C T 11: 3,840,076 (GRCm39) R107H probably damaging Het
4930438A08Rik T C 11: 58,178,228 (GRCm39) V96A possibly damaging Het
Abcc2 A G 19: 43,820,611 (GRCm39) D1370G probably damaging Het
Abcc9 T A 6: 142,634,707 (GRCm39) N186Y probably damaging Het
Adcy7 T C 8: 89,035,414 (GRCm39) V106A probably benign Het
Adgra3 A G 5: 50,164,226 (GRCm39) F251S probably damaging Het
Akr1c6 T A 13: 4,499,045 (GRCm39) I33N probably damaging Het
Amh A G 10: 80,641,338 (GRCm39) Q86R probably benign Het
Aox1 T C 1: 58,124,611 (GRCm39) Y951H probably damaging Het
Arhgap26 G T 18: 39,232,682 (GRCm39) R119L probably damaging Het
Arl8a A G 1: 135,074,735 (GRCm39) K7R probably benign Het
Birc6 T G 17: 74,937,984 (GRCm39) S2638A probably benign Het
Ccdc162 T G 10: 41,457,349 (GRCm39) Q256H probably damaging Het
Cenpe T A 3: 134,940,888 (GRCm39) L679Q probably damaging Het
Cpa5 T A 6: 30,625,891 (GRCm39) H203Q probably benign Het
Cpne9 A T 6: 113,277,544 (GRCm39) D421V possibly damaging Het
Cux1 A T 5: 136,308,502 (GRCm39) C1212* probably null Het
Dock9 G A 14: 121,864,791 (GRCm39) H736Y probably damaging Het
Dpp3 A T 19: 4,971,195 (GRCm39) V214E probably damaging Het
Dtx3 T C 10: 127,028,746 (GRCm39) E161G probably benign Het
Ect2 A T 3: 27,156,637 (GRCm39) Y774* probably null Het
Enpep G T 3: 129,074,599 (GRCm39) P717H probably damaging Het
Erich3 A T 3: 154,469,314 (GRCm39) probably benign Het
Fbp2 C T 13: 63,005,991 (GRCm39) A41T probably damaging Het
Fbxl21 T C 13: 56,674,874 (GRCm39) V75A probably damaging Het
Fkbp5 C T 17: 28,634,919 (GRCm39) D197N probably benign Het
Fsip2 A G 2: 82,807,298 (GRCm39) T1206A probably benign Het
Ggt7 A G 2: 155,345,380 (GRCm39) V156A probably benign Het
Gpi1 T C 7: 33,901,945 (GRCm39) K156R probably damaging Het
Gpx5 T C 13: 21,471,669 (GRCm39) D178G probably damaging Het
Grm7 G A 6: 111,184,766 (GRCm39) E366K probably damaging Het
Haao T C 17: 84,139,103 (GRCm39) Q277R probably damaging Het
Lama1 T C 17: 68,060,753 (GRCm39) S694P Het
Lrp10 A G 14: 54,705,950 (GRCm39) D380G probably benign Het
Lrp2 C A 2: 69,302,799 (GRCm39) D2977Y probably damaging Het
Map2 T A 1: 66,454,065 (GRCm39) M985K probably benign Het
Met C A 6: 17,535,927 (GRCm39) N784K possibly damaging Het
Met T A 6: 17,535,928 (GRCm39) Y65N probably damaging Het
Muc6 T G 7: 141,226,246 (GRCm39) probably benign Het
Numbl T A 7: 26,980,265 (GRCm39) W416R probably damaging Het
Nup160 G A 2: 90,537,364 (GRCm39) S746N probably benign Het
Pcca G A 14: 122,887,700 (GRCm39) G102D probably damaging Het
Pira13 T A 7: 3,825,163 (GRCm39) Y493F possibly damaging Het
Psmc2 T A 5: 22,006,217 (GRCm39) F243L possibly damaging Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rpn1 G T 6: 88,076,285 (GRCm39) V357L probably benign Het
Rtn3 A G 19: 7,433,856 (GRCm39) F712S possibly damaging Het
Scgb1b10 T A 7: 31,800,574 (GRCm39) D54E probably benign Het
Scn5a A G 9: 119,315,395 (GRCm39) I1771T probably damaging Het
Sec14l1 A G 11: 117,047,220 (GRCm39) I633V probably damaging Het
Slc17a6 T C 7: 51,311,224 (GRCm39) Y313H possibly damaging Het
Slc18a1 G A 8: 69,491,514 (GRCm39) T500I probably benign Het
Slx4 G A 16: 3,813,702 (GRCm39) A93V probably damaging Het
Stat4 T C 1: 52,107,974 (GRCm39) S148P probably benign Het
Tbc1d15 A T 10: 115,045,474 (GRCm39) C497S probably damaging Het
Ticam1 C T 17: 56,576,900 (GRCm39) E732K probably benign Het
Trav3-3 C A 14: 53,903,802 (GRCm39) P40Q possibly damaging Het
Trpv6 A T 6: 41,602,390 (GRCm39) L332Q probably damaging Het
Ube2t T G 1: 134,897,033 (GRCm39) V55G probably damaging Het
Ufm1 T C 3: 53,765,402 (GRCm39) K69E probably damaging Het
Utp20 T C 10: 88,614,102 (GRCm39) D1284G probably benign Het
Vil1 C T 1: 74,463,113 (GRCm39) T432I probably damaging Het
Vps13b T A 15: 35,448,727 (GRCm39) I567K probably benign Het
Zfp236 A T 18: 82,646,488 (GRCm39) V1023D probably damaging Het
Zfp429 A G 13: 67,538,080 (GRCm39) Y455H 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
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
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'- AGAGAAACCATCGAGCCCTG -3'
(R):5'- TCACACTGGTTTCCCATGG -3'

Sequencing Primer
(F):5'- CCTGGGGCAGTAGCAGGAAG -3'
(R):5'- CACACTGGTTTCCCATGGTGAAG -3'
Posted On 2018-11-28