Mutagenetix > Incidental Mutation

Incidental Mutation 'R7770:Met'

598524

Institutional Source

Beutler Lab

Gene Symbol

Met

Ensembl Gene

ENSMUSG00000009376

Gene Name

met proto-oncogene

Synonyms

Par4, HGF receptor, c-Met

MMRRC Submission

045826-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7770 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17463799-17573979 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 17491406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 56 (V56D)

Ref Sequence

ENSEMBL: ENSMUSP00000079324 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080469] [ENSMUST00000115442] [ENSMUST00000115443] [ENSMUST00000140070]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080469
AA Change: V56D

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000079324
Gene: ENSMUSG00000009376
AA Change: V56D

Domain	Start	End	E-Value	Type
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: V56D

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111102
Gene: ENSMUSG00000009376
AA Change: V56D

Domain	Start	End	E-Value	Type
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: V56D

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111103
Gene: ENSMUSG00000009376
AA Change: V56D

Domain	Start	End	E-Value	Type
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: ENSMUST00000140070
AA Change: V56D

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117856
Gene: ENSMUSG00000009376
AA Change: V56D

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Sema	52	169	4.8e-22	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (55/56)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,165,894 (GRCm39)	V160E	probably damaging	Het
Abhd8	C	T	8: 71,910,894 (GRCm39)	G305S	probably benign	Het
Adamts20	A	G	15: 94,231,579 (GRCm39)	V870A	probably benign	Het
Agl	A	G	3: 116,551,886 (GRCm39)		probably null	Het
Cav3	A	T	6: 112,449,147 (GRCm39)	D55V	probably damaging	Het
Ccser2	T	A	14: 36,648,831 (GRCm39)	D556V	probably damaging	Het
Cdc20b	T	C	13: 113,215,193 (GRCm39)	Y254H	probably benign	Het
Commd8	A	G	5: 72,317,223 (GRCm39)	L182S	probably damaging	Het
Cyp1b1	G	A	17: 80,020,728 (GRCm39)	A338V	probably damaging	Het
Def8	C	A	8: 124,186,798 (GRCm39)	D459E	unknown	Het
Dennd5b	T	C	6: 148,943,214 (GRCm39)	Y554C	probably damaging	Het
Dnah7c	A	T	1: 46,665,460 (GRCm39)		probably null	Het
Dnajc5b	T	A	3: 19,633,181 (GRCm39)	C135S	probably benign	Het
Dnpep	G	A	1: 75,293,890 (GRCm39)		probably benign	Het
Drc1	C	T	5: 30,507,856 (GRCm39)	Q293*	probably null	Het
Glmp	A	G	3: 88,233,077 (GRCm39)	S72G	probably benign	Het
Gm5431	A	T	11: 48,779,285 (GRCm39)	S546T	probably benign	Het
Gnptab	T	A	10: 88,247,782 (GRCm39)	C70S	probably benign	Het
Gpr83	G	A	9: 14,778,170 (GRCm39)	R180Q	probably damaging	Het
Gucy1a1	A	T	3: 82,016,112 (GRCm39)	L292Q	possibly damaging	Het
Gzmd	T	C	14: 56,368,720 (GRCm39)	D58G	probably damaging	Het
Hoxa10	A	G	6: 52,211,245 (GRCm39)	S224P	possibly damaging	Het
Hoxa13	G	A	6: 52,237,247 (GRCm39)		probably benign	Het
Igsf6	A	G	7: 120,667,548 (GRCm39)	V156A	probably benign	Het
Il6st	A	T	13: 112,639,338 (GRCm39)	I649F	probably damaging	Het
Kcnh3	G	A	15: 99,131,147 (GRCm39)	V507M	probably damaging	Het
Lgr5	A	G	10: 115,307,899 (GRCm39)	I253T	probably damaging	Het
Mettl22	A	T	16: 8,303,764 (GRCm39)	I277F	possibly damaging	Het
Nadsyn1	G	A	7: 143,359,740 (GRCm39)	R411W	probably damaging	Het
Nrros	T	G	16: 31,962,346 (GRCm39)	E557A	probably benign	Het
Or10ak14	A	T	4: 118,611,254 (GRCm39)	H162Q	probably benign	Het
Or5w1	T	C	2: 87,486,813 (GRCm39)	I151V	not run	Het
Or8j3b	C	T	2: 86,205,604 (GRCm39)	V51M	possibly damaging	Het
Pih1d2	G	A	9: 50,533,101 (GRCm39)	R243Q	not run	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Ppp1r3a	A	G	6: 14,754,977 (GRCm39)	V90A	probably benign	Het
Prmt9	T	A	8: 78,285,814 (GRCm39)		probably null	Het
Rapgef4	T	A	2: 72,028,739 (GRCm39)	N385K	possibly damaging	Het
Rbm28	G	A	6: 29,164,627 (GRCm39)		probably benign	Het
Rhobtb3	A	T	13: 76,065,934 (GRCm39)	S150T	probably damaging	Het
Serpinb6b	T	C	13: 33,161,512 (GRCm39)	V195A	probably benign	Het
Sesn1	T	A	10: 41,770,054 (GRCm39)	I99N	probably damaging	Het
Setd1b	G	A	5: 123,296,815 (GRCm39)		probably benign	Het
Slc22a19	T	A	19: 7,681,360 (GRCm39)		probably null	Het
Slc9a4	T	C	1: 40,640,123 (GRCm39)	I305T	probably damaging	Het
Smg6	T	A	11: 74,884,687 (GRCm39)	N3K	unknown	Het
Spta1	C	A	1: 174,023,547 (GRCm39)	Y651*	probably null	Het
Tatdn3	G	A	1: 190,791,053 (GRCm39)	P74S	probably benign	Het
Tet2	C	T	3: 133,186,056 (GRCm39)	R1127Q	possibly damaging	Het
Tgfbi	T	A	13: 56,780,657 (GRCm39)		probably null	Het
Tmprss9	A	G	10: 80,733,903 (GRCm39)		probably null	Het
Tox4	T	C	14: 52,517,299 (GRCm39)	Y10H	probably damaging	Het
Trappc10	A	T	10: 78,046,679 (GRCm39)	S407T	probably damaging	Het
Vmn2r59	A	G	7: 41,708,336 (GRCm39)	C24R	probably damaging	Het
Wdr24	C	A	17: 26,046,070 (GRCm39)	A465D	probably benign	Het
Wfdc8	A	G	2: 164,439,594 (GRCm39)	S263P	unknown	Het
Zc3h15	T	A	2: 83,488,476 (GRCm39)	I138N	possibly damaging	Het

Other mutations in Met

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GAATGTGTCTTGGCAGATCAAC -3'
(R):5'- TGTCAACAAGCAGAGCCATG -3'

Sequencing Primer
(F):5'- TTGGCAGATCAACTCCTCACAATG -3'
(R):5'- CAAGCAGAGCCATGTTGATGTTG -3'

Posted On

2019-11-26