Incidental Mutation 'R5872:Met'
ID 455242
Institutional Source Beutler Lab
Gene Symbol Met
Ensembl Gene ENSMUSG00000009376
Gene Name met proto-oncogene
Synonyms Par4, HGF receptor, c-Met
MMRRC Submission 044079-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5872 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 17463799-17573979 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 17562197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1186 (V1186A)
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: V1186A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079324
Gene: ENSMUSG00000009376
AA Change: V1186A

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: V1186A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111102
Gene: ENSMUSG00000009376
AA Change: V1186A

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: V1186A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111103
Gene: ENSMUSG00000009376
AA Change: V1186A

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.6%
Validation Efficiency
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,382,309 (GRCm39) S1219P possibly damaging Het
A2ml1 A G 6: 128,538,489 (GRCm39) Y644H probably damaging Het
Abca9 T G 11: 110,007,902 (GRCm39) R1232S possibly damaging Het
Acsf2 C T 11: 94,463,975 (GRCm39) V70M probably benign Het
Ampd1 A G 3: 102,986,446 (GRCm39) I42V probably benign Het
Arhgap10 A G 8: 78,071,267 (GRCm39) probably null Het
Atp1a4 A T 1: 172,071,975 (GRCm39) L432Q probably damaging Het
Bbs12 T A 3: 37,374,598 (GRCm39) C349S possibly damaging Het
Bnc2 A G 4: 84,211,007 (GRCm39) V479A possibly damaging Het
Cald1 A T 6: 34,748,043 (GRCm39) K761* probably null Het
Cd177 C T 7: 24,451,688 (GRCm39) G443R probably null Het
Cdc42bpb T C 12: 111,292,410 (GRCm39) D375G probably damaging Het
Chsy3 T C 18: 59,309,268 (GRCm39) Y174H probably damaging Het
Cmya5 T C 13: 93,233,943 (GRCm39) M382V probably benign Het
Col1a2 G A 6: 4,531,926 (GRCm39) S782N unknown Het
Crtac1 C T 19: 42,297,629 (GRCm39) probably null Het
Csmd3 T A 15: 47,445,923 (GRCm39) D3683V probably damaging Het
Ctrc A G 4: 141,572,354 (GRCm39) L62P probably damaging Het
Cyp3a57 A T 5: 145,307,867 (GRCm39) K208* probably null Het
Dnaaf2 A T 12: 69,244,122 (GRCm39) L313Q probably damaging Het
Dtl A G 1: 191,278,680 (GRCm39) L394P probably benign Het
Ehhadh T C 16: 21,585,305 (GRCm39) E192G probably benign Het
Fads2 T C 19: 10,059,997 (GRCm39) I226V probably benign Het
Fat2 T C 11: 55,161,208 (GRCm39) E3174G probably damaging Het
Galnt14 C T 17: 73,881,826 (GRCm39) R91Q probably damaging Het
Hdhd5 G T 6: 120,487,252 (GRCm39) D368E probably benign Het
Hk3 T A 13: 55,158,617 (GRCm39) I528F probably damaging Het
Il10ra A C 9: 45,166,951 (GRCm39) S533R possibly damaging Het
Itpr3 G T 17: 27,305,950 (GRCm39) K169N probably benign Het
Lrrc17 A G 5: 21,780,264 (GRCm39) T413A probably benign Het
Mcm2 C T 6: 88,861,053 (GRCm39) D882N probably benign Het
Msh5 C T 17: 35,248,628 (GRCm39) probably null Het
Nav3 T C 10: 109,600,648 (GRCm39) I1326M probably damaging Het
Nek10 A G 14: 14,850,896 (GRCm38) I314V probably benign Het
Or10g1 A C 14: 52,648,225 (GRCm39) F35V probably damaging Het
Or8b53 T A 9: 38,667,412 (GRCm39) Y143N probably benign Het
Pim1 A G 17: 29,712,720 (GRCm39) E211G probably damaging Het
Plaat1 T A 16: 29,039,189 (GRCm39) Y90N probably benign Het
Ppp1r12b A T 1: 134,704,144 (GRCm39) D903E probably benign Het
Ptpn14 T C 1: 189,583,229 (GRCm39) L692P probably benign Het
Ptprt A G 2: 161,977,138 (GRCm39) C387R probably damaging Het
Qrfprl A G 6: 65,418,369 (GRCm39) probably benign Het
Scarb1 A G 5: 125,381,341 (GRCm39) Y68H possibly damaging Het
Shisa6 T A 11: 66,108,800 (GRCm39) D359V probably damaging Het
Shprh T C 10: 11,063,817 (GRCm39) S1297P probably damaging Het
Sik1 T C 17: 32,069,125 (GRCm39) D250G probably damaging Het
Slamf7 A G 1: 171,466,635 (GRCm39) L190S probably damaging Het
Slc22a3 G A 17: 12,652,355 (GRCm39) P423L probably damaging Het
Slc35e2 A T 4: 155,697,137 (GRCm39) E217V probably damaging Het
Spocd1 A T 4: 129,850,254 (GRCm39) N760I probably damaging Het
Tas2r136 G T 6: 132,754,294 (GRCm39) P278T possibly damaging Het
Tchhl1 A T 3: 93,377,836 (GRCm39) Q180L probably benign Het
Tmem151b T A 17: 45,858,010 (GRCm39) T79S probably benign Het
Tomm70a T A 16: 56,965,105 (GRCm39) C430S probably benign Het
Trbv16 T A 6: 41,128,936 (GRCm39) L40Q probably damaging Het
Trmt1l T G 1: 151,316,594 (GRCm39) I32S probably damaging Het
Ubr4 A G 4: 139,152,641 (GRCm39) T2011A probably damaging Het
Urb1 C T 16: 90,569,652 (GRCm39) W1358* probably null Het
Usp31 T G 7: 121,248,698 (GRCm39) H915P probably benign Het
Vmn2r10 A T 5: 109,151,377 (GRCm39) M79K possibly damaging Het
Vmn2r14 A G 5: 109,369,222 (GRCm39) I117T probably benign Het
Vps13b A G 15: 35,869,497 (GRCm39) H2667R possibly damaging Het
Vwa5b1 G A 4: 138,305,962 (GRCm39) T912M possibly damaging Het
Zfp709 G A 8: 72,643,363 (GRCm39) C264Y probably benign Het
Zkscan5 A G 5: 145,156,898 (GRCm39) I467V probably benign Het
Zxdc A T 6: 90,347,281 (GRCm39) D214V 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
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
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
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'- CAGTACTACTTAACAAATAGCTGTGGC -3'
(R):5'- CCAGGGGCTTACAGATTCACTC -3'

Sequencing Primer
(F):5'- TGCAGTGTTCTGAGCTCA -3'
(R):5'- ACAGATTCACTCAAAATAATCAGGG -3'
Posted On 2017-02-10