Incidental Mutation 'R6063:Met'
ID 483905
Institutional Source Beutler Lab
Gene Symbol Met
Ensembl Gene ENSMUSG00000009376
Gene Name met proto-oncogene
Synonyms Par4, HGF receptor, c-Met
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6063 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 17463799-17573979 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 17491967 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 243 (S243F)
Ref Sequence ENSEMBL: ENSMUSP00000111103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080469] [ENSMUST00000115442] [ENSMUST00000115443] [ENSMUST00000140070]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000080469
AA Change: S243F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000079324
Gene: ENSMUSG00000009376
AA Change: S243F

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: S243F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111102
Gene: ENSMUSG00000009376
AA Change: S243F

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: S243F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111103
Gene: ENSMUSG00000009376
AA Change: S243F

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: ENSMUST00000140070
SMART Domains Protein: ENSMUSP00000117856
Gene: ENSMUSG00000009376

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Sema 52 169 4.8e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145473
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.2%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 G A 17: 24,483,318 (GRCm39) R1713C unknown Het
Ano6 C T 15: 95,846,298 (GRCm39) T512I probably damaging Het
Ap3s1 T C 18: 46,887,505 (GRCm39) V46A probably benign Het
Art2a C A 7: 101,204,413 (GRCm39) V42F probably damaging Het
Asph C T 4: 9,531,960 (GRCm39) V386M probably benign Het
B4galnt4 T A 7: 140,644,643 (GRCm39) D179E probably benign Het
Bbx T C 16: 50,071,730 (GRCm39) I232V probably benign Het
C1ql2 A G 1: 120,269,321 (GRCm39) I159V probably benign Het
Ccar1 A G 10: 62,612,496 (GRCm39) V223A possibly damaging Het
Cd2ap A T 17: 43,136,802 (GRCm39) L277I probably benign Het
Cfap44 G A 16: 44,250,255 (GRCm39) E778K probably benign Het
Chd3 A T 11: 69,240,063 (GRCm39) D1626E probably benign Het
Crocc C T 4: 140,769,032 (GRCm39) G505S probably benign Het
Crocc T A 4: 140,773,851 (GRCm39) Q72L probably damaging Het
Drosha T C 15: 12,834,156 (GRCm39) probably benign Het
Eps8l1 T A 7: 4,474,296 (GRCm39) S256T possibly damaging Het
F830045P16Rik A G 2: 129,316,310 (GRCm39) V133A probably damaging Het
Fermt2 A T 14: 45,697,338 (GRCm39) M671K possibly damaging Het
Fhdc1 G A 3: 84,353,336 (GRCm39) L630F probably benign Het
Gon4l T C 3: 88,807,306 (GRCm39) S1667P probably damaging Het
Greb1l A C 18: 10,557,340 (GRCm39) K1780T probably damaging Het
H2-Q10 C T 17: 35,781,026 (GRCm39) T8M probably benign Het
Hmcn2 A T 2: 31,324,725 (GRCm39) T4215S probably benign Het
I0C0044D17Rik G A 4: 98,708,576 (GRCm39) probably benign Het
Ifi204 A G 1: 173,579,223 (GRCm39) F541L probably benign Het
Igkv6-17 C T 6: 70,348,764 (GRCm39) A45V probably damaging Het
Intu G A 3: 40,608,524 (GRCm39) A161T probably damaging Het
Kcnmb2 A G 3: 32,233,141 (GRCm39) Y73C probably damaging Het
Lrit1 T C 14: 36,776,945 (GRCm39) F22L probably benign Het
Lrp1b A T 2: 41,174,156 (GRCm39) C699* probably null Het
Lrrc8d A G 5: 105,959,992 (GRCm39) D134G probably benign Het
Map1b T C 13: 99,567,645 (GRCm39) D1692G unknown Het
Mlph C A 1: 90,855,882 (GRCm39) H96Q probably damaging Het
Mycbp2 A T 14: 103,372,582 (GRCm39) V4088D probably damaging Het
Nampt T A 12: 32,898,658 (GRCm39) S425T probably damaging Het
Nts G A 10: 102,320,856 (GRCm39) H78Y probably benign Het
Nxf1 A G 19: 8,745,151 (GRCm39) E467G possibly damaging Het
Olfml2a C A 2: 38,841,155 (GRCm39) D230E probably benign Het
Or4b13 C A 2: 90,082,771 (GRCm39) C187F probably benign Het
Or52n2c C T 7: 104,574,599 (GRCm39) R124H probably benign Het
Pcsk5 A G 19: 17,432,045 (GRCm39) probably null Het
Pde5a C A 3: 122,618,574 (GRCm39) T629K probably benign Het
Plcb3 G T 19: 6,940,202 (GRCm39) R462S possibly damaging Het
Pnpla6 T A 8: 3,574,156 (GRCm39) M469K probably benign Het
Pram1 A T 17: 33,860,386 (GRCm39) K318* probably null Het
Prkd1 T C 12: 50,388,826 (GRCm39) R906G probably benign Het
Ptprh T A 7: 4,576,361 (GRCm39) T300S possibly damaging Het
Rdh16f2 A G 10: 127,712,743 (GRCm39) Y247C probably benign Het
Rimbp3 A G 16: 17,028,781 (GRCm39) E735G probably damaging Het
Sall3 G A 18: 81,017,470 (GRCm39) P153S possibly damaging Het
Samd4b T A 7: 28,123,056 (GRCm39) M1L possibly damaging Het
Septin12 T C 16: 4,810,127 (GRCm39) E136G probably damaging Het
Shpk A T 11: 73,104,270 (GRCm39) K140* probably null Het
Sidt1 G T 16: 44,079,829 (GRCm39) F608L probably benign Het
Skint5 A G 4: 113,347,842 (GRCm39) Y1300H probably benign Het
Slc22a28 G A 19: 8,094,386 (GRCm39) P212S probably benign Het
Slc22a5 A T 11: 53,758,359 (GRCm39) F480L possibly damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc3a1 C T 17: 85,335,951 (GRCm39) P31L probably benign Het
Slc4a7 T C 14: 14,793,964 (GRCm38) V1074A possibly damaging Het
Snx2 C T 18: 53,342,697 (GRCm39) Q254* probably null Het
Sox30 G A 11: 45,882,769 (GRCm39) V600I probably benign Het
Svil T G 18: 5,106,724 (GRCm39) V1855G probably damaging Het
Tdpoz9 A G 3: 93,957,408 (GRCm39) F7L probably benign Het
Tdrd7 A G 4: 46,005,486 (GRCm39) T431A probably benign Het
Tenm2 A T 11: 36,054,544 (GRCm39) probably null Het
Tigar A G 6: 127,068,164 (GRCm39) S85P probably benign Het
Tnr A C 1: 159,740,254 (GRCm39) M1143L probably benign Het
Trio G T 15: 27,891,465 (GRCm39) Q429K possibly damaging Het
Urb1 T C 16: 90,585,985 (GRCm39) I452M probably benign Het
Uroc1 A T 6: 90,324,910 (GRCm39) E461V probably benign Het
Vax1 C A 19: 59,157,036 (GRCm39) R99L unknown Het
Xab2 A T 8: 3,663,051 (GRCm39) I510N possibly damaging Het
Zbtb34 A T 2: 33,301,842 (GRCm39) I233K possibly damaging Het
Zbtb47 A G 9: 121,592,598 (GRCm39) E306G probably benign Het
Zfp27 A G 7: 29,593,727 (GRCm39) F746S probably damaging Het
Zfp719 C T 7: 43,239,050 (GRCm39) Q213* probably null Het
Zswim6 T C 13: 107,865,112 (GRCm39) noncoding transcript 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
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
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'- CGGAAAAGGACCGGTTCATC -3'
(R):5'- ACGCGGCTTGGAGGATATTAAAC -3'

Posted On 2017-07-14