Incidental Mutation 'R6989:Met'
ID 543132
Institutional Source Beutler Lab
Gene Symbol Met
Ensembl Gene ENSMUSG00000009376
Gene Name met proto-oncogene
Synonyms Par4, HGF receptor, c-Met
MMRRC Submission 045095-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6989 (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 A at 17535927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 784 (N784K)
Ref Sequence ENSEMBL: ENSMUSP00000111103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080469] [ENSMUST00000115442] [ENSMUST00000115443]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000080469
AA Change: N784K

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000079324
Gene: ENSMUSG00000009376
AA Change: N784K

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 possibly damaging
Transcript: ENSMUST00000115442
AA Change: N784K

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000111102
Gene: ENSMUSG00000009376
AA Change: N784K

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 possibly damaging
Transcript: ENSMUST00000115443
AA Change: N784K

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000111103
Gene: ENSMUSG00000009376
AA Change: N784K

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
SMART Domains Protein: ENSMUSP00000118755
Gene: ENSMUSG00000009376
AA Change: N64K

DomainStartEndE-ValueType
IPT 21 116 3.38e-16 SMART
IPT 118 202 4.34e-5 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.4%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik C T 11: 3,840,076 (GRCm39) R107H probably damaging Het
4930438A08Rik T C 11: 58,178,228 (GRCm39) V96A possibly damaging Het
Abcc2 A G 19: 43,820,611 (GRCm39) D1370G probably damaging Het
Abcc9 T A 6: 142,634,707 (GRCm39) N186Y probably damaging Het
Adcy7 T C 8: 89,035,414 (GRCm39) V106A probably benign Het
Adgra3 A G 5: 50,164,226 (GRCm39) F251S probably damaging Het
Akr1c6 T A 13: 4,499,045 (GRCm39) I33N probably damaging Het
Alk A C 17: 72,204,947 (GRCm39) M1075R probably benign Het
Amh A G 10: 80,641,338 (GRCm39) Q86R probably benign Het
Aox1 T C 1: 58,124,611 (GRCm39) Y951H probably damaging Het
Arhgap26 G T 18: 39,232,682 (GRCm39) R119L probably damaging Het
Arl8a A G 1: 135,074,735 (GRCm39) K7R probably benign Het
Birc6 T G 17: 74,937,984 (GRCm39) S2638A probably benign Het
Ccdc162 T G 10: 41,457,349 (GRCm39) Q256H probably damaging Het
Cenpe T A 3: 134,940,888 (GRCm39) L679Q probably damaging Het
Cpa5 T A 6: 30,625,891 (GRCm39) H203Q probably benign Het
Cpne9 A T 6: 113,277,544 (GRCm39) D421V possibly damaging Het
Cux1 A T 5: 136,308,502 (GRCm39) C1212* probably null Het
Dock9 G A 14: 121,864,791 (GRCm39) H736Y probably damaging Het
Dpp3 A T 19: 4,971,195 (GRCm39) V214E probably damaging Het
Dtx3 T C 10: 127,028,746 (GRCm39) E161G probably benign Het
Ect2 A T 3: 27,156,637 (GRCm39) Y774* probably null Het
Enpep G T 3: 129,074,599 (GRCm39) P717H probably damaging Het
Erich3 A T 3: 154,469,314 (GRCm39) probably benign Het
Fbp2 C T 13: 63,005,991 (GRCm39) A41T probably damaging Het
Fbxl21 T C 13: 56,674,874 (GRCm39) V75A probably damaging Het
Fkbp5 C T 17: 28,634,919 (GRCm39) D197N probably benign Het
Fsip2 A G 2: 82,807,298 (GRCm39) T1206A probably benign Het
Ggt7 A G 2: 155,345,380 (GRCm39) V156A probably benign Het
Gpi1 T C 7: 33,901,945 (GRCm39) K156R probably damaging Het
Gpx5 T C 13: 21,471,669 (GRCm39) D178G probably damaging Het
Grm7 G A 6: 111,184,766 (GRCm39) E366K probably damaging Het
Haao T C 17: 84,139,103 (GRCm39) Q277R probably damaging Het
Lama1 T C 17: 68,060,753 (GRCm39) S694P Het
Lrp10 A G 14: 54,705,950 (GRCm39) D380G probably benign Het
Lrp2 C A 2: 69,302,799 (GRCm39) D2977Y probably damaging Het
Map2 T A 1: 66,454,065 (GRCm39) M985K probably benign Het
Muc6 T G 7: 141,226,246 (GRCm39) probably benign Het
Numbl T A 7: 26,980,265 (GRCm39) W416R probably damaging Het
Nup160 G A 2: 90,537,364 (GRCm39) S746N probably benign Het
Pcca G A 14: 122,887,700 (GRCm39) G102D probably damaging Het
Pira13 T A 7: 3,825,163 (GRCm39) Y493F possibly damaging Het
Psmc2 T A 5: 22,006,217 (GRCm39) F243L possibly damaging Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rpn1 G T 6: 88,076,285 (GRCm39) V357L probably benign Het
Rtn3 A G 19: 7,433,856 (GRCm39) F712S possibly damaging Het
Scgb1b10 T A 7: 31,800,574 (GRCm39) D54E probably benign Het
Scn5a A G 9: 119,315,395 (GRCm39) I1771T probably damaging Het
Sec14l1 A G 11: 117,047,220 (GRCm39) I633V probably damaging Het
Slc17a6 T C 7: 51,311,224 (GRCm39) Y313H possibly damaging Het
Slc18a1 G A 8: 69,491,514 (GRCm39) T500I probably benign Het
Slx4 G A 16: 3,813,702 (GRCm39) A93V probably damaging Het
Stat4 T C 1: 52,107,974 (GRCm39) S148P probably benign Het
Tbc1d15 A T 10: 115,045,474 (GRCm39) C497S probably damaging Het
Ticam1 C T 17: 56,576,900 (GRCm39) E732K probably benign Het
Trav3-3 C A 14: 53,903,802 (GRCm39) P40Q possibly damaging Het
Trpv6 A T 6: 41,602,390 (GRCm39) L332Q probably damaging Het
Ube2t T G 1: 134,897,033 (GRCm39) V55G probably damaging Het
Ufm1 T C 3: 53,765,402 (GRCm39) K69E probably damaging Het
Utp20 T C 10: 88,614,102 (GRCm39) D1284G probably benign Het
Vil1 C T 1: 74,463,113 (GRCm39) T432I probably damaging Het
Vps13b T A 15: 35,448,727 (GRCm39) I567K probably benign Het
Zfp236 A T 18: 82,646,488 (GRCm39) V1023D probably damaging Het
Zfp429 A G 13: 67,538,080 (GRCm39) Y455H 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
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
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'- TAGCGAGTCCTCTAACATCATAAG -3'
(R):5'- TCTGAAAACTGCTTCATTGGTG -3'

Sequencing Primer
(F):5'- GTTTTACCAGTGGTGGAAG -3'
(R):5'- CTGCTTCATTGGTGTATAAACATGTG -3'
Posted On 2018-11-28