Incidental Mutation 'R5590:Met'
ID 437428
Institutional Source Beutler Lab
Gene Symbol Met
Ensembl Gene ENSMUSG00000009376
Gene Name met proto-oncogene
Synonyms Par4, HGF receptor, c-Met
MMRRC Submission 043143-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5590 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 17463799-17573979 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 17548781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 942 (V942L)
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: V942L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000079324
Gene: ENSMUSG00000009376
AA Change: V942L

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: V942L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000111102
Gene: ENSMUSG00000009376
AA Change: V942L

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: V942L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000111103
Gene: ENSMUSG00000009376
AA Change: V942L

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: V74L
SMART Domains Protein: ENSMUSP00000121923
Gene: ENSMUSG00000009376
AA Change: V74L

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 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 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 100% (108/108)
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik T G 4: 124,504,280 (GRCm39) M91L unknown Het
A2m C T 6: 121,653,891 (GRCm39) T1408M probably damaging Het
Abca16 C T 7: 120,143,995 (GRCm39) T1671M probably damaging Het
Adamts8 A T 9: 30,862,632 (GRCm39) N279I probably damaging Het
Adgre1 T A 17: 57,752,034 (GRCm39) I594N probably damaging Het
Aldh4a1 T A 4: 139,369,415 (GRCm39) V322E probably damaging Het
Atp12a A T 14: 56,610,837 (GRCm39) Y327F probably benign Het
C4b T C 17: 34,959,309 (GRCm39) T422A probably damaging Het
Cacna1c A T 6: 118,664,143 (GRCm39) S668T probably damaging Het
Cchcr1 A T 17: 35,837,577 (GRCm39) E426D probably damaging Het
Ccr3 G A 9: 123,828,830 (GRCm39) G55D probably damaging Het
Cdipt T A 7: 126,578,704 (GRCm39) probably null Het
Cep19 A G 16: 31,922,716 (GRCm39) probably benign Het
Cts6 T A 13: 61,349,626 (GRCm39) M56L probably benign Het
Cyp3a11 C A 5: 145,802,787 (GRCm39) M235I probably benign Het
Dnajc21 A T 15: 10,462,363 (GRCm39) D87E possibly damaging Het
Ell A C 8: 70,992,357 (GRCm39) M1L possibly damaging Het
Esyt3 T C 9: 99,240,466 (GRCm39) probably benign Het
Ets1 T C 9: 32,640,094 (GRCm39) probably benign Het
Fam222b T A 11: 78,045,858 (GRCm39) M473K probably benign Het
Fanca T C 8: 124,030,702 (GRCm39) probably benign Het
Fbrsl1 G T 5: 110,529,484 (GRCm39) A67D probably damaging Het
Fchsd1 G A 18: 38,094,380 (GRCm39) P622L probably damaging Het
Gal3st2c T G 1: 93,936,023 (GRCm39) probably null Het
Gins2 T G 8: 121,308,486 (GRCm39) H166P possibly damaging Het
Gm10118 A T 10: 63,762,845 (GRCm39) probably benign Het
Gm9979 A T 13: 40,859,289 (GRCm39) noncoding transcript Het
Hspbap1 A G 16: 35,622,033 (GRCm39) Y126C probably damaging Het
Hspd1 A T 1: 55,123,928 (GRCm39) I64N probably damaging Het
Igkv3-4 A T 6: 70,649,267 (GRCm39) S89C probably damaging Het
Il10ra T A 9: 45,176,924 (GRCm39) K134* probably null Het
Il12rb1 G A 8: 71,266,411 (GRCm39) C252Y possibly damaging Het
Il24 A T 1: 130,810,253 (GRCm39) V201E possibly damaging Het
Inpp1 A G 1: 52,833,820 (GRCm39) I92T probably damaging Het
Kcnh5 T C 12: 75,023,463 (GRCm39) D535G probably benign Het
Kcnq4 T A 4: 120,573,082 (GRCm39) I240F probably damaging Het
Kctd17 G A 15: 78,321,502 (GRCm39) probably benign Het
Leo1 T A 9: 75,364,423 (GRCm39) I521N possibly damaging Het
Mdga1 A G 17: 30,058,841 (GRCm39) L722P probably damaging Het
Mfn1 A T 3: 32,617,996 (GRCm39) T110S probably benign Het
Mrps15 T C 4: 125,942,488 (GRCm39) I79T probably benign Het
Mycbp2 A C 14: 103,360,791 (GRCm39) M4497R probably damaging Het
Mylk T A 16: 34,699,722 (GRCm39) S362T probably benign Het
Mypn A G 10: 62,955,827 (GRCm39) F1209L probably benign Het
Nab2 T C 10: 127,500,526 (GRCm39) S189G probably damaging Het
Naxe A C 3: 87,963,840 (GRCm39) probably null Het
Ncf1 A G 5: 134,252,355 (GRCm39) V232A probably damaging Het
Nell1 A G 7: 49,929,359 (GRCm39) Y422C probably damaging Het
Nmnat2 G T 1: 152,969,807 (GRCm39) G176V probably damaging Het
Npr1 A G 3: 90,362,149 (GRCm39) S999P probably damaging Het
Nuak1 T C 10: 84,211,119 (GRCm39) D323G probably benign Het
Or4d10b A G 19: 12,036,642 (GRCm39) V158A probably benign Het
Or5h23 A G 16: 58,906,360 (GRCm39) F162S probably benign Het
Or8b3b T A 9: 38,584,261 (GRCm39) T160S probably damaging Het
Osbpl8 T C 10: 111,108,029 (GRCm39) S342P probably damaging Het
Pag1 A T 3: 9,764,482 (GRCm39) Y224N probably damaging Het
Pald1 T A 10: 61,179,489 (GRCm39) H460L probably damaging Het
Per2 G A 1: 91,355,578 (GRCm39) Q727* probably null Het
Pex19 T C 1: 171,960,779 (GRCm39) V134A probably benign Het
Phlpp1 A T 1: 106,320,657 (GRCm39) I1551F possibly damaging Het
Ppef2 A T 5: 92,386,998 (GRCm39) V313D probably damaging Het
Prorp T C 12: 55,351,257 (GRCm39) S189P possibly damaging Het
Pzp A C 6: 128,500,759 (GRCm39) F153C probably damaging Het
Rasl11a A G 5: 146,782,052 (GRCm39) H9R probably benign Het
Rfx3 A T 19: 27,779,780 (GRCm39) probably null Het
Rmnd5b A T 11: 51,518,789 (GRCm39) I68N probably damaging Het
Senp5 T A 16: 31,808,331 (GRCm39) S281C probably damaging Het
Sh3rf1 G A 8: 61,814,766 (GRCm39) E442K probably benign Het
Slc12a3 G A 8: 95,072,416 (GRCm39) V645M probably damaging Het
Slc22a16 T C 10: 40,457,337 (GRCm39) F193L possibly damaging Het
Slc35f1 A T 10: 52,984,274 (GRCm39) T345S possibly damaging Het
Slc9a1 G A 4: 133,148,874 (GRCm39) R704H probably damaging Het
Spta1 A T 1: 174,003,336 (GRCm39) Y89F possibly damaging Het
Sspo A G 6: 48,451,425 (GRCm39) E2741G probably damaging Het
Strn4 G A 7: 16,567,799 (GRCm39) probably null Het
Tanc2 A G 11: 105,814,132 (GRCm39) T1859A probably damaging Het
Tbc1d14 A T 5: 36,682,389 (GRCm39) Y3N probably damaging Het
Tdrd9 C A 12: 112,018,414 (GRCm39) R1278S probably benign Het
Tenm4 C A 7: 96,446,608 (GRCm39) A826E possibly damaging Het
Tenm4 G T 7: 96,446,607 (GRCm39) A826S possibly damaging Het
Tet2 C T 3: 133,182,241 (GRCm39) probably null Het
Tfec A G 6: 16,834,199 (GRCm39) L236P probably benign Het
Tjap1 A G 17: 46,569,797 (GRCm39) S388P probably damaging Het
Tle1 T C 4: 72,043,208 (GRCm39) T554A possibly damaging Het
Tmem17 G A 11: 22,467,450 (GRCm39) V83I probably benign Het
Tnrc6b C T 15: 80,760,703 (GRCm39) H137Y probably damaging Het
Tomm5 T C 4: 45,106,679 (GRCm39) probably benign Het
Top3b T A 16: 16,709,441 (GRCm39) probably benign Het
Tph1 T C 7: 46,303,216 (GRCm39) H254R probably damaging Het
Tpte T C 8: 22,841,468 (GRCm39) Y487H probably damaging Het
Trappc13 T A 13: 104,284,749 (GRCm39) D241V probably damaging Het
Trrap A G 5: 144,719,075 (GRCm39) I193V probably benign Het
Tspear A T 10: 77,706,199 (GRCm39) H323L probably benign Het
Ttc39a A T 4: 109,290,184 (GRCm39) probably null Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Tubg1 A G 11: 101,014,858 (GRCm39) D200G probably damaging Het
Ugdh C A 5: 65,580,217 (GRCm39) probably benign Het
Uso1 A G 5: 92,328,467 (GRCm39) N355D probably benign Het
Vamp4 T C 1: 162,420,248 (GRCm39) probably null Het
Vmn2r5 T C 3: 64,411,497 (GRCm39) D357G probably damaging Het
Vps52 A G 17: 34,180,195 (GRCm39) T300A probably benign Het
Wt1 A T 2: 104,957,629 (GRCm39) H163L probably damaging Het
Xirp2 T C 2: 67,344,379 (GRCm39) S2207P probably benign Het
Xpo6 A T 7: 125,706,250 (GRCm39) I30N probably damaging Het
Zfp386 T A 12: 116,023,347 (GRCm39) I320K probably benign 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
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'- AGGGTGCTAATTGGAATCCAG -3'
(R):5'- ACAGGTCCCAGGAGACTTTG -3'

Sequencing Primer
(F):5'- TTGGAATCCAGAGAAACTTGGTCCC -3'
(R):5'- AGGAGACTTTGACCCAGTGC -3'
Posted On 2016-10-26