Incidental Mutation 'R6747:Met'
ID 530581
Institutional Source Beutler Lab
Gene Symbol Met
Ensembl Gene ENSMUSG00000009376
Gene Name met proto-oncogene
Synonyms Par4, HGF receptor, c-Met
MMRRC Submission 044864-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6747 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 17463800-17573980 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 17571467 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 1296 (Q1296H)
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: Q1296H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000079324
Gene: ENSMUSG00000009376
AA Change: Q1296H

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: Q1296H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111102
Gene: ENSMUSG00000009376
AA Change: Q1296H

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: Q1296H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111103
Gene: ENSMUSG00000009376
AA Change: Q1296H

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: 99.7%
  • 10x: 98.5%
  • 20x: 96.0%
Validation Efficiency 97% (68/70)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 C T 3: 122,126,313 probably null Het
Acyp1 C T 12: 85,278,905 V107I probably null Het
Aftph T C 11: 20,726,144 probably null Het
Agtpbp1 A T 13: 59,544,353 probably null Het
Arhgap15 C A 2: 44,116,677 P269T probably damaging Het
Arhgap30 T C 1: 171,407,729 V557A probably damaging Het
Asb3 T A 11: 31,081,493 M410K probably benign Het
B4galnt2 T C 11: 95,868,634 probably null Het
Birc3 A G 9: 7,860,261 probably null Het
Cav2 A T 6: 17,286,951 N69Y probably damaging Het
Cc2d2b G A 19: 40,795,667 C826Y probably benign Het
Cenpf T A 1: 189,652,854 T2410S probably benign Het
Chchd1 A G 14: 20,703,380 D24G probably benign Het
Cmip G A 8: 117,436,879 G450S probably benign Het
Col11a1 C T 3: 114,212,450 Q534* probably null Het
Col3a1 G T 1: 45,338,622 probably benign Het
Cox4i1 T C 8: 120,673,230 I31T possibly damaging Het
Cstf3 G T 2: 104,646,767 V168F probably damaging Het
Dapk1 T C 13: 60,725,340 I352T probably benign Het
Ddx52 T C 11: 83,955,302 V456A probably damaging Het
Dmxl2 A T 9: 54,416,088 H1337Q probably damaging Het
Dnah7a T C 1: 53,636,062 T369A probably benign Het
Dppa1 T A 11: 46,625,595 I8F unknown Het
Ebf1 G T 11: 44,883,814 V213F probably damaging Het
Foxb2 C A 19: 16,872,833 E270* probably null Het
Gclc A T 9: 77,788,245 R450W probably damaging Het
Gm13128 T C 4: 144,332,978 W420R probably benign Het
Grin2d T C 7: 45,862,268 E251G probably damaging Het
Hal A T 10: 93,500,677 N423Y probably damaging Het
Krtap4-8 T A 11: 99,780,091 I185F unknown Het
Lrp3 T A 7: 35,211,437 Q61L probably benign Het
Mphosph9 T A 5: 124,297,699 N557I possibly damaging Het
Mrpl46 C A 7: 78,782,981 W16C probably benign Het
Myh13 G A 11: 67,350,419 R874Q probably damaging Het
Nelfb G A 2: 25,203,381 T453I probably benign Het
Nos2 A G 11: 78,952,954 D909G probably damaging Het
Nr5a2 T C 1: 136,882,344 E431G possibly damaging Het
Nsmce2 A G 15: 59,591,724 D149G probably benign Het
Olfr203 T C 16: 59,303,641 F164L probably benign Het
Olfr690 C T 7: 105,330,027 R55H probably benign Het
Pcbp4 C A 9: 106,460,648 probably null Het
Peg10 A G 6: 4,757,137 probably benign Het
Pms2 C T 5: 143,925,419 P154L probably benign Het
Pou6f2 A C 13: 18,129,187 L112R probably benign Het
Prdm6 A T 18: 53,465,046 probably benign Het
Prob1 G A 18: 35,655,154 R12W probably damaging Het
Rif1 T A 2: 52,078,263 probably null Het
Rpl9-ps6 A G 19: 32,466,143 S137P probably benign Het
Rsf1 GGCG GGCGACGGCAGCG 7: 97,579,906 probably benign Homo
Sec23ip A G 7: 128,752,849 silent Het
Slc38a9 T C 13: 112,690,180 C151R probably benign Het
Slc39a8 T C 3: 135,849,180 probably null Het
Slc6a18 C A 13: 73,677,991 probably benign Het
Snw1 T C 12: 87,464,710 D57G probably damaging Het
Sox6 C G 7: 115,541,731 R505P probably damaging Het
Speg T C 1: 75,410,395 probably null Het
Spire2 C T 8: 123,356,846 R190C probably damaging Het
Stard9 A C 2: 120,698,383 H1707P possibly damaging Het
Tenm3 G T 8: 48,343,243 T237K probably damaging Het
Themis2 T A 4: 132,796,262 E31V possibly damaging Het
Trim56 T G 5: 137,114,521 Q47P probably damaging Het
Trim58 T C 11: 58,651,264 I350T probably benign Het
Ttll7 C T 3: 146,944,056 P639S probably benign Het
Ubxn6 A G 17: 56,070,650 probably null Het
Vmn2r114 A T 17: 23,309,876 F417L probably benign Het
Vmn2r29 T A 7: 7,231,422 M822L probably benign Het
Vps9d1 T C 8: 123,254,007 D27G probably damaging Het
Wdr3 C T 3: 100,138,724 R931Q probably damaging Het
Whamm G A 7: 81,578,302 probably null Het
Zcchc24 T C 14: 25,757,033 H142R probably damaging Het
Zfp292 T C 4: 34,806,894 K2050R probably damaging Het
Other mutations in Met
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00533:Met APN 6 17,534,937 (GRCm38) unclassified probably benign
IGL01066:Met APN 6 17,535,105 (GRCm38) critical splice donor site probably null
IGL01344:Met APN 6 17,547,032 (GRCm38) missense probably benign 0.44
IGL01413:Met APN 6 17,558,896 (GRCm38) splice site probably benign
IGL01608:Met APN 6 17,558,730 (GRCm38) missense probably damaging 1.00
IGL01613:Met APN 6 17,540,577 (GRCm38) missense probably damaging 1.00
IGL01820:Met APN 6 17,534,231 (GRCm38) missense possibly damaging 0.89
IGL01843:Met APN 6 17,491,701 (GRCm38) missense probably damaging 1.00
IGL02014:Met APN 6 17,527,257 (GRCm38) splice site probably benign
IGL02027:Met APN 6 17,563,727 (GRCm38) splice site probably benign
IGL02243:Met APN 6 17,549,094 (GRCm38) missense probably damaging 1.00
IGL02373:Met APN 6 17,491,529 (GRCm38) missense probably damaging 1.00
IGL02616:Met APN 6 17,553,347 (GRCm38) missense probably damaging 1.00
IGL02702:Met APN 6 17,534,143 (GRCm38) missense possibly damaging 0.92
IGL02704:Met APN 6 17,491,257 (GRCm38) missense possibly damaging 0.62
IGL02714:Met APN 6 17,491,852 (GRCm38) nonsense probably null
IGL02936:Met APN 6 17,553,397 (GRCm38) missense probably damaging 1.00
IGL02943:Met APN 6 17,535,929 (GRCm38) missense possibly damaging 0.84
IGL03057:Met APN 6 17,558,766 (GRCm38) missense probably damaging 1.00
IGL03124:Met APN 6 17,492,078 (GRCm38) missense probably benign 0.27
IGL03171:Met APN 6 17,562,273 (GRCm38) splice site probably benign
IGL03266:Met APN 6 17,540,538 (GRCm38) missense possibly damaging 0.61
IGL03285:Met APN 6 17,553,337 (GRCm38) missense probably damaging 0.98
R0453:Met UTSW 6 17,534,198 (GRCm38) missense possibly damaging 0.88
R0543:Met UTSW 6 17,491,970 (GRCm38) missense probably damaging 1.00
R0601:Met UTSW 6 17,555,632 (GRCm38) splice site probably null
R0652:Met UTSW 6 17,491,710 (GRCm38) missense probably benign 0.00
R0941:Met UTSW 6 17,491,394 (GRCm38) missense probably damaging 1.00
R1142:Met UTSW 6 17,527,183 (GRCm38) nonsense probably null
R1553:Met UTSW 6 17,491,461 (GRCm38) missense probably benign 0.01
R1569:Met UTSW 6 17,531,504 (GRCm38) nonsense probably null
R1744:Met UTSW 6 17,540,646 (GRCm38) missense possibly damaging 0.47
R2224:Met UTSW 6 17,563,722 (GRCm38) splice site probably null
R2308:Met UTSW 6 17,491,742 (GRCm38) missense probably benign 0.00
R2369:Met UTSW 6 17,531,528 (GRCm38) missense probably benign 0.04
R2393:Met UTSW 6 17,534,198 (GRCm38) missense probably damaging 0.99
R2419:Met UTSW 6 17,535,830 (GRCm38) splice site probably benign
R2483:Met UTSW 6 17,549,086 (GRCm38) missense probably damaging 1.00
R2511:Met UTSW 6 17,491,967 (GRCm38) missense probably damaging 1.00
R3622:Met UTSW 6 17,549,086 (GRCm38) missense probably damaging 1.00
R3623:Met UTSW 6 17,549,086 (GRCm38) missense probably damaging 1.00
R3624:Met UTSW 6 17,549,086 (GRCm38) missense probably damaging 1.00
R4050:Met UTSW 6 17,533,984 (GRCm38) missense probably benign
R4051:Met UTSW 6 17,548,729 (GRCm38) missense possibly damaging 0.86
R4159:Met UTSW 6 17,562,272 (GRCm38) splice site probably null
R4208:Met UTSW 6 17,548,729 (GRCm38) missense possibly damaging 0.86
R4622:Met UTSW 6 17,513,384 (GRCm38) missense probably benign 0.19
R4672:Met UTSW 6 17,571,804 (GRCm38) missense probably benign 0.33
R4737:Met UTSW 6 17,491,541 (GRCm38) missense probably damaging 1.00
R4738:Met UTSW 6 17,491,541 (GRCm38) missense probably damaging 1.00
R4834:Met UTSW 6 17,491,413 (GRCm38) missense probably damaging 0.97
R4846:Met UTSW 6 17,491,929 (GRCm38) missense probably damaging 0.99
R4855:Met UTSW 6 17,558,797 (GRCm38) missense probably damaging 1.00
R4878:Met UTSW 6 17,549,059 (GRCm38) missense probably damaging 1.00
R4902:Met UTSW 6 17,546,996 (GRCm38) missense probably damaging 1.00
R5208:Met UTSW 6 17,526,423 (GRCm38) nonsense probably null
R5355:Met UTSW 6 17,491,362 (GRCm38) missense probably damaging 1.00
R5415:Met UTSW 6 17,527,085 (GRCm38) missense probably benign 0.01
R5556:Met UTSW 6 17,534,176 (GRCm38) missense probably benign 0.04
R5590:Met UTSW 6 17,548,782 (GRCm38) missense probably benign 0.00
R5683:Met UTSW 6 17,571,744 (GRCm38) missense probably damaging 1.00
R5872:Met UTSW 6 17,562,198 (GRCm38) missense probably damaging 1.00
R5891:Met UTSW 6 17,491,539 (GRCm38) missense probably benign 0.02
R5895:Met UTSW 6 17,531,582 (GRCm38) missense probably benign 0.02
R6063:Met UTSW 6 17,491,968 (GRCm38) missense probably damaging 1.00
R6262:Met UTSW 6 17,553,404 (GRCm38) missense probably benign 0.00
R6362:Met UTSW 6 17,558,733 (GRCm38) missense probably damaging 1.00
R6966:Met UTSW 6 17,531,532 (GRCm38) missense possibly damaging 0.65
R6989:Met UTSW 6 17,535,929 (GRCm38) missense probably damaging 1.00
R6989:Met UTSW 6 17,535,928 (GRCm38) missense possibly damaging 0.67
R7017:Met UTSW 6 17,491,287 (GRCm38) nonsense probably null
R7037:Met UTSW 6 17,547,128 (GRCm38) intron probably benign
R7141:Met UTSW 6 17,527,155 (GRCm38) missense probably benign 0.01
R7242:Met UTSW 6 17,491,317 (GRCm38) missense probably damaging 1.00
R7282:Met UTSW 6 17,547,012 (GRCm38) nonsense probably null
R7624:Met UTSW 6 17,558,835 (GRCm38) missense probably damaging 1.00
R7770:Met UTSW 6 17,491,407 (GRCm38) missense possibly damaging 0.79
R7797:Met UTSW 6 17,533,953 (GRCm38) missense probably damaging 1.00
R8082:Met UTSW 6 17,492,313 (GRCm38) missense probably damaging 0.98
R8109:Met UTSW 6 17,562,237 (GRCm38) missense probably damaging 1.00
R8162:Met UTSW 6 17,547,062 (GRCm38) missense probably damaging 0.98
R8315:Met UTSW 6 17,533,957 (GRCm38) missense probably damaging 0.99
R8325:Met UTSW 6 17,571,672 (GRCm38) missense probably damaging 1.00
R8348:Met UTSW 6 17,571,800 (GRCm38) missense probably benign 0.00
R8354:Met UTSW 6 17,491,769 (GRCm38) missense probably damaging 1.00
R8448:Met UTSW 6 17,571,800 (GRCm38) missense probably benign 0.00
R8454:Met UTSW 6 17,491,769 (GRCm38) missense probably damaging 1.00
R8465:Met UTSW 6 17,571,810 (GRCm38) missense probably benign 0.04
R8479:Met UTSW 6 17,491,747 (GRCm38) splice site probably null
R8737:Met UTSW 6 17,540,511 (GRCm38) missense probably benign 0.00
R8903:Met UTSW 6 17,549,138 (GRCm38) missense probably benign 0.19
R8964:Met UTSW 6 17,527,145 (GRCm38) missense probably damaging 1.00
R8998:Met UTSW 6 17,491,535 (GRCm38) missense probably benign 0.43
R9088:Met UTSW 6 17,548,716 (GRCm38) nonsense probably null
R9369:Met UTSW 6 17,492,229 (GRCm38) missense probably benign
R9394:Met UTSW 6 17,513,396 (GRCm38) missense probably damaging 1.00
R9530:Met UTSW 6 17,558,832 (GRCm38) missense probably damaging 1.00
R9564:Met UTSW 6 17,531,426 (GRCm38) missense probably benign
R9759:Met UTSW 6 17,555,562 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATGGTGTGAAGTGTGTCAAGC -3'
(R):5'- AAAAGGACGGGCGCATTTC -3'

Sequencing Primer
(F):5'- ATGAATTACGGAGAGCTACCGATTTC -3'
(R):5'- CGCATTTCCGCTTTGGG -3'
Posted On 2018-08-01