Incidental Mutation 'R4902:Met'
ID 377871
Institutional Source Beutler Lab
Gene Symbol Met
Ensembl Gene ENSMUSG00000009376
Gene Name met proto-oncogene
Synonyms Par4, HGF receptor, c-Met
MMRRC Submission 042505-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4902 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 17463799-17573979 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 17546995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 876 (V876A)
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 damaging
Transcript: ENSMUST00000080469
AA Change: V876A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000079324
Gene: ENSMUSG00000009376
AA Change: V876A

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 damaging
Transcript: ENSMUST00000115442
AA Change: V876A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111102
Gene: ENSMUSG00000009376
AA Change: V876A

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 damaging
Transcript: ENSMUST00000115443
AA Change: V876A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111103
Gene: ENSMUSG00000009376
AA Change: V876A

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 unknown
Transcript: ENSMUST00000148903
AA Change: V8A
SMART Domains Protein: ENSMUSP00000121923
Gene: ENSMUSG00000009376
AA Change: V8A

DomainStartEndE-ValueType
Blast:IPT 2 64 1e-37 BLAST
low complexity region 65 83 N/A INTRINSIC
PDB:3VW8|A 108 157 5e-23 PDB
Predicted Effect unknown
Transcript: ENSMUST00000152802
AA Change: V156A
SMART Domains Protein: ENSMUSP00000118755
Gene: ENSMUSG00000009376
AA Change: V156A

DomainStartEndE-ValueType
IPT 21 116 3.38e-16 SMART
IPT 118 202 4.34e-5 SMART
Meta Mutation Damage Score 0.5386 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.0%
Validation Efficiency 100% (84/84)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930488N24Rik T C 17: 14,326,408 (GRCm39) noncoding transcript Het
Adamdec1 T C 14: 68,809,215 (GRCm39) N249S probably damaging Het
Asxl1 T A 2: 153,241,751 (GRCm39) V767E probably benign Het
Atp6v1f T C 6: 29,470,271 (GRCm39) probably benign Het
Brix1 T C 15: 10,483,378 (GRCm39) probably null Het
Cap2 T C 13: 46,684,501 (GRCm39) V2A probably damaging Het
Chrnb2 A G 3: 89,668,248 (GRCm39) C356R probably damaging Het
Chtf8 C T 8: 107,612,424 (GRCm39) G172R probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dact2 T A 17: 14,416,991 (GRCm39) K403M possibly damaging Het
Dhx40 A C 11: 86,662,036 (GRCm39) L674V possibly damaging Het
Dlc1 A G 8: 37,044,285 (GRCm39) V1230A probably damaging Het
Dnah7b T A 1: 46,329,935 (GRCm39) S3260T probably benign Het
Eef1a2 T A 2: 180,789,881 (GRCm39) D428V probably benign Het
Ehd1 T C 19: 6,344,273 (GRCm39) F178L possibly damaging Het
Eif4a3l1 T G 6: 136,306,262 (GRCm39) V241G probably benign Het
F2 A T 2: 91,465,316 (GRCm39) probably benign Het
Fam186a T C 15: 99,844,723 (GRCm39) D507G unknown Het
Fbxo11 G A 17: 88,372,702 (GRCm39) probably benign Het
Fry A T 5: 150,419,168 (GRCm39) M2871L probably benign Het
Gabrr2 A G 4: 33,095,512 (GRCm39) D442G probably damaging Het
Gemin5 A G 11: 58,055,103 (GRCm39) I214T probably benign Het
Gfra2 A G 14: 71,204,455 (GRCm39) N175S probably damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Jhy C T 9: 40,808,821 (GRCm39) probably benign Het
Krtap5-5 A T 7: 141,783,156 (GRCm39) C165S unknown Het
Lce1k T A 3: 92,714,134 (GRCm39) T17S unknown Het
Map3k1 C T 13: 111,909,146 (GRCm39) R268Q probably damaging Het
Med13l T A 5: 118,883,195 (GRCm39) H1351Q probably damaging Het
Mical2 T C 7: 111,936,107 (GRCm39) S903P probably benign Het
Mkks A G 2: 136,718,094 (GRCm39) V396A probably benign Het
Mvk T C 5: 114,594,060 (GRCm39) V305A probably benign Het
Myo5a A G 9: 75,081,360 (GRCm39) T982A probably benign Het
N4bp1 A G 8: 87,588,311 (GRCm39) V209A probably benign Het
Nfkbib G T 7: 28,461,173 (GRCm39) S158* probably null Het
Nkx3-1 G A 14: 69,428,367 (GRCm39) G72S probably benign Het
Ogfr A G 2: 180,235,518 (GRCm39) probably benign Het
Or10a3 G A 7: 108,480,624 (GRCm39) T63I probably benign Het
Or2t43 G A 11: 58,457,451 (GRCm39) S240F possibly damaging Het
Or8s8 T C 15: 98,354,796 (GRCm39) S202P probably damaging Het
Pcdhga8 T A 18: 37,948,978 (GRCm39) D131E probably damaging Het
Plch1 A G 3: 63,648,264 (GRCm39) probably benign Het
Polrmt A G 10: 79,582,385 (GRCm39) M1T probably null Het
Ppp1r12a T C 10: 108,066,451 (GRCm39) V214A probably damaging Het
Prr5l A G 2: 101,628,027 (GRCm39) probably benign Het
Prss35 A G 9: 86,638,175 (GRCm39) Q315R probably damaging Het
Psg29 G T 7: 16,945,837 (GRCm39) *469L probably null Het
Psmd4 A G 3: 94,943,170 (GRCm39) V78A probably damaging Het
Rad9a C A 19: 4,251,552 (GRCm39) probably benign Het
Rfx7 G T 9: 72,524,573 (GRCm39) V588F probably benign Het
Rnase13 A C 14: 52,160,052 (GRCm39) I29S probably benign Het
Steap2 T C 5: 5,725,866 (GRCm39) N386S possibly damaging Het
Ston1 A G 17: 88,952,680 (GRCm39) E719G probably damaging Het
Stx4a A G 7: 127,441,934 (GRCm39) probably null Het
Tekt2 A G 4: 126,217,263 (GRCm39) S212P possibly damaging Het
Tex19.2 A T 11: 121,007,782 (GRCm39) L222Q probably damaging Het
Tmem50a A G 4: 134,637,017 (GRCm39) I38T probably damaging Het
Ubr2 A G 17: 47,296,922 (GRCm39) V286A possibly damaging Het
Ugt2b35 T C 5: 87,151,159 (GRCm39) M255T possibly damaging Het
Vmn2r17 T A 5: 109,601,220 (GRCm39) F839L probably benign Het
Wdr36 T C 18: 32,992,314 (GRCm39) V617A possibly damaging Het
Wtip A T 7: 33,818,437 (GRCm39) probably null Het
Yeats2 G A 16: 20,026,418 (GRCm39) G765S probably benign Het
Zbtb3 T C 19: 8,781,331 (GRCm39) S315P probably benign Het
Zdhhc8 T C 16: 18,045,030 (GRCm39) M259V probably benign Het
Zfp120 A G 2: 149,961,440 (GRCm39) probably benign Het
Zfp236 A T 18: 82,627,543 (GRCm39) I1552N possibly 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
R4050:Met UTSW 6 17,533,983 (GRCm39) missense probably benign
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
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'- TCAGATTTCTTGGAAAACAGCG -3'
(R):5'- ACTGAGGCTGAGCTGATGAG -3'

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