Incidental Mutation 'R4050:Met'
ID 314104
Institutional Source Beutler Lab
Gene Symbol Met
Ensembl Gene ENSMUSG00000009376
Gene Name met proto-oncogene
Synonyms Par4, HGF receptor, c-Met
MMRRC Submission 040968-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4050 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 17463799-17573979 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17533983 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 645 (T645A)
Ref Sequence ENSEMBL: ENSMUSP00000111103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080469] [ENSMUST00000115442] [ENSMUST00000115443]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000080469
AA Change: T645A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000079324
Gene: ENSMUSG00000009376
AA Change: T645A

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Sema 52 495 4.5e-134 SMART
PSI 518 561 1.18e-9 SMART
IPT 561 654 9.43e-15 SMART
IPT 655 738 4.16e-25 SMART
IPT 740 835 3.38e-16 SMART
IPT 837 933 4.08e-10 SMART
TyrKc 1076 1335 7.65e-134 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115442
AA Change: T645A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111102
Gene: ENSMUSG00000009376
AA Change: T645A

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Sema 52 495 4.5e-134 SMART
PSI 518 561 1.18e-9 SMART
IPT 561 654 9.43e-15 SMART
IPT 655 738 4.16e-25 SMART
IPT 740 835 3.38e-16 SMART
IPT 837 933 4.08e-10 SMART
TyrKc 1076 1335 7.65e-134 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115443
AA Change: T645A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111103
Gene: ENSMUSG00000009376
AA Change: T645A

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Sema 52 495 4.5e-134 SMART
PSI 518 561 1.18e-9 SMART
IPT 561 654 9.43e-15 SMART
IPT 655 738 4.16e-25 SMART
IPT 740 835 3.38e-16 SMART
IPT 837 933 4.08e-10 SMART
TyrKc 1076 1335 7.65e-134 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145473
Predicted Effect probably benign
Transcript: ENSMUST00000152802
SMART Domains Protein: ENSMUSP00000118755
Gene: ENSMUSG00000009376

DomainStartEndE-ValueType
IPT 21 116 3.38e-16 SMART
IPT 118 202 4.34e-5 SMART
Meta Mutation Damage Score 0.0714 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 97% (58/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the receptor tyrosine kinase family of proteins and the product of the proto-oncogene MET. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that are linked via disulfide bonds to form the mature receptor. Further processing of the beta subunit results in the formation of the M10 peptide, which has been shown to reduce lung fibrosis. Binding of its ligand, hepatocyte growth factor, induces dimerization and activation of the receptor, which plays a role in cellular survival, embryogenesis, and cellular migration and invasion. Mutations in this gene are associated with papillary renal cell carcinoma, hepatocellular carcinoma, and various head and neck cancers. Amplification and overexpression of this gene are also associated with multiple human cancers. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous null mutants exhibit impaired embryonic development resulting in death. Abnormalities observed in various mutant lines include muscle agenesis due to impaired migration of myogenic precursors, defects of motor axon migration, and placental andliver defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik A G 4: 148,029,449 (GRCm39) D473G probably damaging Het
Abca1 T A 4: 53,044,144 (GRCm39) Q1826L probably damaging Het
Apob G A 12: 8,065,390 (GRCm39) V4087I probably benign Het
Atp10b G A 11: 43,150,363 (GRCm39) A1354T probably benign Het
Baz1a A G 12: 54,976,404 (GRCm39) V424A probably benign Het
Cdc20b G A 13: 113,200,819 (GRCm39) D180N probably benign Het
Cep57l1 G T 10: 41,605,356 (GRCm39) R130S probably damaging Het
Ddb1 A G 19: 10,605,171 (GRCm39) D1053G probably benign Het
Ddx39a T A 8: 84,448,863 (GRCm39) M246K probably benign Het
Dip2a G A 10: 76,114,441 (GRCm39) T1013M probably damaging Het
Edar G T 10: 58,445,769 (GRCm39) T265N possibly damaging Het
Fcgbpl1 T C 7: 27,852,410 (GRCm39) V1311A possibly damaging Het
Gbp8 T A 5: 105,179,104 (GRCm39) I132F probably damaging Het
Gga1 A G 15: 78,775,691 (GRCm39) D382G probably benign Het
Ggps1 T C 13: 14,228,284 (GRCm39) K300E probably benign Het
Gm10518 C A 1: 179,631,378 (GRCm39) probably benign Het
Gm8074 G A 9: 78,229,618 (GRCm39) noncoding transcript Het
H2-Eb1 T A 17: 34,533,342 (GRCm39) L188Q probably damaging Het
Heatr6 A G 11: 83,646,599 (GRCm39) S95G probably damaging Het
Hnf1a T A 5: 115,108,633 (GRCm39) N91Y probably damaging Het
Ints10 C T 8: 69,280,003 (GRCm39) S710F probably damaging Het
Kazn C T 4: 141,834,215 (GRCm39) E614K unknown Het
Kif26a T A 12: 112,146,350 (GRCm39) M1812K probably benign Het
Lmo7 A T 14: 102,139,713 (GRCm39) K488* probably null Het
Mad1l1 A G 5: 140,118,571 (GRCm39) S457P probably damaging Het
Mpp4 T C 1: 59,185,903 (GRCm39) probably null Het
Mycl A T 4: 122,890,632 (GRCm39) probably null Het
Ncbp1 G A 4: 46,147,483 (GRCm39) R110H probably damaging Het
Nfasc G T 1: 132,538,043 (GRCm39) probably benign Het
Nup35 A G 2: 80,486,320 (GRCm39) I212V probably benign Het
Or2y8 T G 11: 52,035,961 (GRCm39) Y132S probably damaging Het
Or4p20 A G 2: 88,253,967 (GRCm39) M134T probably damaging Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Ovgp1 A G 3: 105,893,912 (GRCm39) probably benign Het
Pcgf5 G A 19: 36,420,311 (GRCm39) S181N probably damaging Het
Plk2 C T 13: 110,536,400 (GRCm39) T617I probably damaging Het
Polq A T 16: 36,913,182 (GRCm39) probably null Het
Ppp1r1a A G 15: 103,440,881 (GRCm39) L92P probably damaging Het
Pramel24 T C 4: 143,453,692 (GRCm39) S267P probably benign Het
Prg4 G C 1: 150,330,510 (GRCm39) probably benign Het
Prune1 T C 3: 95,169,542 (GRCm39) K220R possibly damaging Het
Rab3gap2 G A 1: 185,004,840 (GRCm39) probably null Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sall3 G A 18: 81,014,697 (GRCm39) A1005V probably benign Het
Samd15 T G 12: 87,247,406 (GRCm39) N30K probably benign Het
Scn8a A T 15: 100,911,294 (GRCm39) K905* probably null Het
Scrib G A 15: 75,923,322 (GRCm39) R1245W possibly damaging Het
Skint4 C T 4: 111,981,811 (GRCm39) S260L probably benign Het
Slc29a2 A T 19: 5,079,481 (GRCm39) M339L possibly damaging Het
Slx9 T C 10: 77,350,164 (GRCm39) R75G possibly damaging Het
Spire1 G T 18: 67,662,101 (GRCm39) probably null Het
Synpo2 T C 3: 122,907,927 (GRCm39) D463G possibly damaging Het
Taf4 C A 2: 179,573,805 (GRCm39) G688C probably damaging Het
Tasor2 A G 13: 3,623,507 (GRCm39) S2148P probably benign Het
Tpte T A 8: 22,856,000 (GRCm39) V600E probably damaging Het
Ttn A G 2: 76,651,510 (GRCm39) V10953A probably benign Het
Vav2 T C 2: 27,178,691 (GRCm39) Y333C probably benign Het
Vav2 A G 2: 27,181,415 (GRCm39) S311P probably damaging Het
Zbtb26 A C 2: 37,327,000 (GRCm39) M1R probably null Het
Zfp26 G A 9: 20,353,525 (GRCm39) P88L probably benign Het
Zfp324 T C 7: 12,704,794 (GRCm39) F328L probably damaging Het
Other mutations in Met
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00533:Met APN 6 17,534,936 (GRCm39) unclassified probably benign
IGL01066:Met APN 6 17,535,104 (GRCm39) critical splice donor site probably null
IGL01344:Met APN 6 17,547,031 (GRCm39) missense probably benign 0.44
IGL01413:Met APN 6 17,558,895 (GRCm39) splice site probably benign
IGL01608:Met APN 6 17,558,729 (GRCm39) missense probably damaging 1.00
IGL01613:Met APN 6 17,540,576 (GRCm39) missense probably damaging 1.00
IGL01820:Met APN 6 17,534,230 (GRCm39) missense possibly damaging 0.89
IGL01843:Met APN 6 17,491,700 (GRCm39) missense probably damaging 1.00
IGL02014:Met APN 6 17,527,256 (GRCm39) splice site probably benign
IGL02027:Met APN 6 17,563,726 (GRCm39) splice site probably benign
IGL02243:Met APN 6 17,549,093 (GRCm39) missense probably damaging 1.00
IGL02373:Met APN 6 17,491,528 (GRCm39) missense probably damaging 1.00
IGL02616:Met APN 6 17,553,346 (GRCm39) missense probably damaging 1.00
IGL02702:Met APN 6 17,534,142 (GRCm39) missense possibly damaging 0.92
IGL02704:Met APN 6 17,491,256 (GRCm39) missense possibly damaging 0.62
IGL02714:Met APN 6 17,491,851 (GRCm39) nonsense probably null
IGL02936:Met APN 6 17,553,396 (GRCm39) missense probably damaging 1.00
IGL02943:Met APN 6 17,535,928 (GRCm39) missense possibly damaging 0.84
IGL03057:Met APN 6 17,558,765 (GRCm39) missense probably damaging 1.00
IGL03124:Met APN 6 17,492,077 (GRCm39) missense probably benign 0.27
IGL03171:Met APN 6 17,562,272 (GRCm39) splice site probably benign
IGL03266:Met APN 6 17,540,537 (GRCm39) missense possibly damaging 0.61
IGL03285:Met APN 6 17,553,336 (GRCm39) missense probably damaging 0.98
R0453:Met UTSW 6 17,534,197 (GRCm39) missense possibly damaging 0.88
R0543:Met UTSW 6 17,491,969 (GRCm39) missense probably damaging 1.00
R0601:Met UTSW 6 17,555,631 (GRCm39) splice site probably null
R0652:Met UTSW 6 17,491,709 (GRCm39) missense probably benign 0.00
R0941:Met UTSW 6 17,491,393 (GRCm39) missense probably damaging 1.00
R1142:Met UTSW 6 17,527,182 (GRCm39) nonsense probably null
R1553:Met UTSW 6 17,491,460 (GRCm39) missense probably benign 0.01
R1569:Met UTSW 6 17,531,503 (GRCm39) nonsense probably null
R1744:Met UTSW 6 17,540,645 (GRCm39) missense possibly damaging 0.47
R2224:Met UTSW 6 17,563,721 (GRCm39) splice site probably null
R2308:Met UTSW 6 17,491,741 (GRCm39) missense probably benign 0.00
R2369:Met UTSW 6 17,531,527 (GRCm39) missense probably benign 0.04
R2393:Met UTSW 6 17,534,197 (GRCm39) missense probably damaging 0.99
R2419:Met UTSW 6 17,535,829 (GRCm39) splice site probably benign
R2483:Met UTSW 6 17,549,085 (GRCm39) missense probably damaging 1.00
R2511:Met UTSW 6 17,491,966 (GRCm39) missense probably damaging 1.00
R3622:Met UTSW 6 17,549,085 (GRCm39) missense probably damaging 1.00
R3623:Met UTSW 6 17,549,085 (GRCm39) missense probably damaging 1.00
R3624:Met UTSW 6 17,549,085 (GRCm39) missense probably damaging 1.00
R4051:Met UTSW 6 17,548,728 (GRCm39) missense possibly damaging 0.86
R4159:Met UTSW 6 17,562,271 (GRCm39) splice site probably null
R4208:Met UTSW 6 17,548,728 (GRCm39) missense possibly damaging 0.86
R4622:Met UTSW 6 17,513,383 (GRCm39) missense probably benign 0.19
R4672:Met UTSW 6 17,571,803 (GRCm39) missense probably benign 0.33
R4737:Met UTSW 6 17,491,540 (GRCm39) missense probably damaging 1.00
R4738:Met UTSW 6 17,491,540 (GRCm39) missense probably damaging 1.00
R4834:Met UTSW 6 17,491,412 (GRCm39) missense probably damaging 0.97
R4846:Met UTSW 6 17,491,928 (GRCm39) missense probably damaging 0.99
R4855:Met UTSW 6 17,558,796 (GRCm39) missense probably damaging 1.00
R4878:Met UTSW 6 17,549,058 (GRCm39) missense probably damaging 1.00
R4902:Met UTSW 6 17,546,995 (GRCm39) missense probably damaging 1.00
R5208:Met UTSW 6 17,526,422 (GRCm39) nonsense probably null
R5355:Met UTSW 6 17,491,361 (GRCm39) missense probably damaging 1.00
R5415:Met UTSW 6 17,527,084 (GRCm39) missense probably benign 0.01
R5556:Met UTSW 6 17,534,175 (GRCm39) missense probably benign 0.04
R5590:Met UTSW 6 17,548,781 (GRCm39) missense probably benign 0.00
R5683:Met UTSW 6 17,571,743 (GRCm39) missense probably damaging 1.00
R5872:Met UTSW 6 17,562,197 (GRCm39) missense probably damaging 1.00
R5891:Met UTSW 6 17,491,538 (GRCm39) missense probably benign 0.02
R5895:Met UTSW 6 17,531,581 (GRCm39) missense probably benign 0.02
R6063:Met UTSW 6 17,491,967 (GRCm39) missense probably damaging 1.00
R6262:Met UTSW 6 17,553,403 (GRCm39) missense probably benign 0.00
R6362:Met UTSW 6 17,558,732 (GRCm39) missense probably damaging 1.00
R6747:Met UTSW 6 17,571,466 (GRCm39) missense probably damaging 1.00
R6966:Met UTSW 6 17,531,531 (GRCm39) missense possibly damaging 0.65
R6989:Met UTSW 6 17,535,928 (GRCm39) missense probably damaging 1.00
R6989:Met UTSW 6 17,535,927 (GRCm39) missense possibly damaging 0.67
R7017:Met UTSW 6 17,491,286 (GRCm39) nonsense probably null
R7037:Met UTSW 6 17,547,127 (GRCm39) intron probably benign
R7141:Met UTSW 6 17,527,154 (GRCm39) missense probably benign 0.01
R7242:Met UTSW 6 17,491,316 (GRCm39) missense probably damaging 1.00
R7282:Met UTSW 6 17,547,011 (GRCm39) nonsense probably null
R7624:Met UTSW 6 17,558,834 (GRCm39) missense probably damaging 1.00
R7770:Met UTSW 6 17,491,406 (GRCm39) missense possibly damaging 0.79
R7797:Met UTSW 6 17,533,952 (GRCm39) missense probably damaging 1.00
R8082:Met UTSW 6 17,492,312 (GRCm39) missense probably damaging 0.98
R8109:Met UTSW 6 17,562,236 (GRCm39) missense probably damaging 1.00
R8162:Met UTSW 6 17,547,061 (GRCm39) missense probably damaging 0.98
R8315:Met UTSW 6 17,533,956 (GRCm39) missense probably damaging 0.99
R8325:Met UTSW 6 17,571,671 (GRCm39) missense probably damaging 1.00
R8348:Met UTSW 6 17,571,799 (GRCm39) missense probably benign 0.00
R8354:Met UTSW 6 17,491,768 (GRCm39) missense probably damaging 1.00
R8448:Met UTSW 6 17,571,799 (GRCm39) missense probably benign 0.00
R8454:Met UTSW 6 17,491,768 (GRCm39) missense probably damaging 1.00
R8465:Met UTSW 6 17,571,809 (GRCm39) missense probably benign 0.04
R8479:Met UTSW 6 17,491,746 (GRCm39) splice site probably null
R8737:Met UTSW 6 17,540,510 (GRCm39) missense probably benign 0.00
R8903:Met UTSW 6 17,549,137 (GRCm39) missense probably benign 0.19
R8964:Met UTSW 6 17,527,144 (GRCm39) missense probably damaging 1.00
R8998:Met UTSW 6 17,491,534 (GRCm39) missense probably benign 0.43
R9088:Met UTSW 6 17,548,715 (GRCm39) nonsense probably null
R9369:Met UTSW 6 17,492,228 (GRCm39) missense probably benign
R9394:Met UTSW 6 17,513,395 (GRCm39) missense probably damaging 1.00
R9530:Met UTSW 6 17,558,831 (GRCm39) missense probably damaging 1.00
R9564:Met UTSW 6 17,531,425 (GRCm39) missense probably benign
R9759:Met UTSW 6 17,555,561 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCATGAGCTCACAATTTGGGG -3'
(R):5'- TTTCCCAGTAAGAGTGAGTAAGGTG -3'

Sequencing Primer
(F):5'- GGGGTTTAATATCCCATCACAAC -3'
(R):5'- AGTGAGTAAGGTGCCTCCAGC -3'
Posted On 2015-04-30