Incidental Mutation 'R8964:Met'
ID 682599
Institutional Source Beutler Lab
Gene Symbol Met
Ensembl Gene ENSMUSG00000009376
Gene Name met proto-oncogene
Synonyms Par4, HGF receptor, c-Met
MMRRC Submission 068798-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8964 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 17463799-17573979 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 17527144 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 532 (P532S)
Ref Sequence ENSEMBL: ENSMUSP00000079324 (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: P532S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079324
Gene: ENSMUSG00000009376
AA Change: P532S

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: P532S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111102
Gene: ENSMUSG00000009376
AA Change: P532S

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: P532S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111103
Gene: ENSMUSG00000009376
AA Change: P532S

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 100% (80/80)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik C T 7: 130,740,716 (GRCm39) V167M probably benign Het
Abca6 G A 11: 110,139,363 (GRCm39) P37L probably benign Het
Abca9 A T 11: 110,038,075 (GRCm39) Y490* probably null Het
Abcb11 A G 2: 69,117,061 (GRCm39) V529A possibly damaging Het
Acox2 G T 14: 8,243,768 (GRCm38) Y529* probably null Het
Acte1 A G 7: 143,423,030 (GRCm39) T39A probably benign Het
Adck2 G T 6: 39,551,083 (GRCm39) probably benign Het
Agxt T A 1: 93,072,869 (GRCm39) C409S possibly damaging Het
Ahsa1 T A 12: 87,318,131 (GRCm39) I164N probably damaging Het
Arhgef1 A G 7: 24,622,462 (GRCm39) E647G probably damaging Het
Axin1 T G 17: 26,361,718 (GRCm39) F21V probably damaging Het
B3galnt1 A G 3: 69,482,589 (GRCm39) I224T probably damaging Het
Bche T C 3: 73,608,406 (GRCm39) K340R probably benign Het
Bpifb5 T A 2: 154,072,198 (GRCm39) W302R possibly damaging Het
Cd72 G A 4: 43,450,218 (GRCm39) T230I probably damaging Het
Cdc42ep4 T A 11: 113,620,278 (GRCm39) M38L probably damaging Het
Cdcp1 G A 9: 123,012,561 (GRCm39) Q329* probably null Het
Clps C A 17: 28,777,730 (GRCm39) probably benign Het
Cluap1 A G 16: 3,729,334 (GRCm39) probably benign Het
CN725425 C T 15: 91,119,972 (GRCm39) S31L possibly damaging Het
Cnbp T C 6: 87,821,086 (GRCm39) N158D probably benign Het
Crebbp A G 16: 3,909,753 (GRCm39) F1545S probably damaging Het
Cyp39a1 A T 17: 44,002,558 (GRCm39) T258S probably benign Het
Dclk2 T C 3: 86,743,698 (GRCm39) D257G probably damaging Het
Dock7 A T 4: 98,949,476 (GRCm39) D455E Het
Ehbp1 G A 11: 22,101,154 (GRCm39) Q259* probably null Het
Eif3a A T 19: 60,751,630 (GRCm39) D1228E unknown Het
Has2 A T 15: 56,531,061 (GRCm39) D551E probably damaging Het
Herc1 T A 9: 66,352,872 (GRCm39) N2119K probably damaging Het
Hsdl1 C T 8: 120,292,899 (GRCm39) A179T probably benign Het
Htt T A 5: 35,062,720 (GRCm39) M2818K probably benign Het
Il18bp A G 7: 101,665,591 (GRCm39) S80P possibly damaging Het
Ints10 A G 8: 69,264,631 (GRCm39) M455V probably benign Het
Ipcef1 T C 10: 6,869,789 (GRCm39) T255A possibly damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lrba T A 3: 86,258,552 (GRCm39) D1346E probably benign Het
Mdm1 T A 10: 118,002,585 (GRCm39) D635E probably damaging Het
Nlrc5 T A 8: 95,232,116 (GRCm39) M1314K possibly damaging Het
Notch1 A T 2: 26,371,062 (GRCm39) S341R possibly damaging Het
Nr3c2 T G 8: 77,881,941 (GRCm39) L670V probably damaging Het
Nuak1 C T 10: 84,210,734 (GRCm39) M451I probably benign Het
Nubp1 G A 16: 10,238,894 (GRCm39) V170I probably benign Het
Or5v1 G A 17: 37,809,664 (GRCm39) G41S probably damaging Het
Or9g8 T A 2: 85,606,964 (GRCm39) I12N probably damaging Het
Pamr1 T C 2: 102,464,811 (GRCm39) V320A possibly damaging Het
Pcdhb11 T A 18: 37,556,660 (GRCm39) N663K probably benign Het
Pcnx1 G A 12: 82,039,812 (GRCm39) G1400D Het
Pdxk A T 10: 78,283,771 (GRCm39) V141E probably benign Het
Pex5 A T 6: 124,375,740 (GRCm39) N520K probably benign Het
Pklr T C 3: 89,050,036 (GRCm39) V337A probably benign Het
Polb T C 8: 23,143,341 (GRCm39) D17G probably damaging Het
Ppp1r9b T C 11: 94,882,705 (GRCm39) L111P probably damaging Het
Prl3d1 A G 13: 27,283,926 (GRCm39) E165G possibly damaging Het
Prpf40a A G 2: 53,035,906 (GRCm39) F657S probably damaging Het
Ptgs2 C T 1: 149,980,798 (GRCm39) R455C probably damaging Het
Pzp T A 6: 128,464,462 (GRCm39) D1355V probably benign Het
Rasl12 T A 9: 65,314,913 (GRCm39) V72D probably damaging Het
Rfx2 C A 17: 57,093,696 (GRCm39) R266L probably damaging Het
Rnaseh2a T C 8: 85,686,434 (GRCm39) D204G probably benign Het
S1pr3 A C 13: 51,573,248 (GRCm39) K143T probably damaging Het
Sdr39u1 C A 14: 56,135,170 (GRCm39) A258S possibly damaging Het
Sntb2 T A 8: 107,707,808 (GRCm39) S191T possibly damaging Het
Sod3 T A 5: 52,525,696 (GRCm39) F132I probably damaging Het
Sorcs2 C T 5: 36,386,511 (GRCm39) V176I possibly damaging Het
Syne1 T C 10: 5,060,872 (GRCm39) I7256V Het
Tbc1d22b A G 17: 29,819,202 (GRCm39) E459G probably damaging Het
Tbkbp1 A G 11: 97,037,169 (GRCm39) S278P probably damaging Het
Thoc5 A T 11: 4,860,647 (GRCm39) E245D possibly damaging Het
Tmc7 G A 7: 118,160,228 (GRCm39) P203L probably benign Het
Tns2 T C 15: 102,011,553 (GRCm39) L11P possibly damaging Het
Trip11 A G 12: 101,811,315 (GRCm39) probably null Het
Ttn T G 2: 76,551,309 (GRCm39) Y31361S probably damaging Het
Vars2 T C 17: 35,970,699 (GRCm39) E678G possibly damaging Het
Vav1 C A 17: 57,606,122 (GRCm39) H249N probably benign Het
Vmn2r9 T A 5: 108,996,031 (GRCm39) I206L probably benign Het
Vps4a T C 8: 107,771,686 (GRCm39) S410P probably damaging Het
Wdr82 T C 9: 106,053,861 (GRCm39) Y71H possibly damaging Het
Zfand1 A G 3: 10,413,631 (GRCm39) Y19H probably benign Het
Zfp365 A T 10: 67,745,088 (GRCm39) I230N probably damaging Het
Zfp763 T C 17: 33,240,710 (GRCm39) T40A probably benign Het
Zfp788 A T 7: 41,297,003 (GRCm39) D51V 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
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
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'- GCTACTCAATTAGATGCCGTGAAC -3'
(R):5'- AGCAAGCACTTCAGATGCAG -3'

Sequencing Primer
(F):5'- GATGCCGTGAACTGATACTCATACG -3'
(R):5'- TGTCCCCCACGTAGATGAATACATTG -3'
Posted On 2021-10-11