Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02203:Mst1r'

284394

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mst1r

Ensembl Gene

ENSMUSG00000032584

Gene Name

macrophage stimulating 1 receptor (c-met-related tyrosine kinase)

Synonyms

Fv-2, Ron, CDw136, Fv2, friend virus susceptibility 2, PTK8, STK

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.235) question?

Stock #

IGL02203

Quality Score

Status

Chromosome

Chromosomal Location

107906873-107920383 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107907869 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 242 (Y242C)

Ref Sequence

ENSEMBL: ENSMUSP00000142201 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035202] [ENSMUST00000035203] [ENSMUST00000191906] [ENSMUST00000195617]

Predicted Effect

probably benign
Transcript: ENSMUST00000035202

SMART Domains

Protein: ENSMUSP00000035202
Gene: ENSMUSG00000032583

Domain	Start	End	E-Value	Type
Pfam:Mon1	151	555	1.2e-142	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000035203
AA Change: Y242C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000035203
Gene: ENSMUSG00000032584
AA Change: Y242C

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Sema	57	510	9.03e-116	SMART
PSI	528	570	8.72e-4	SMART
IPT	570	684	1.63e-18	SMART
IPT	685	769	4.03e-23	SMART
IPT	771	873	8.41e-12	SMART
IPT	878	972	5.36e0	SMART
TyrKc	1059	1318	8.2e-134	SMART
low complexity region	1349	1360	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158380

Predicted Effect

probably benign
Transcript: ENSMUST00000191906

SMART Domains

Protein: ENSMUSP00000141516
Gene: ENSMUSG00000032583

Domain	Start	End	E-Value	Type
Pfam:Mon1	146	461	1.1e-138	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000195617
AA Change: Y242C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142201
Gene: ENSMUSG00000032584
AA Change: Y242C

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Sema	57	442	3.5e-63	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a precursor protein that is proteolytically cleaved to yield an alpha chain and a beta chain which form a membrane-spanning heterodimer. The encoded protein belongs to a family of cell-surface receptor tyrosine kinases involved in signaling from the cell surface to the intracellular environment. The binding of the encoded protein to its ligand, macrophage-stimulating protein, mediates several biological activities including wound healing, tumor immunity, macrophage activation and hematopoiesis as well as cell growth, motility, survival and adhesion. The protein encoded by this gene also functions in early development and the macrophage-mediated inflammatory response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: This locus controls susceptibility to splenomegaly or spleen focus formation induced by inoculation with Friend leukemia virus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	C	3: 122,179,808	D1095A	probably benign	Het
Acmsd	T	C	1: 127,738,605		probably benign	Het
Ap5m1	G	A	14: 49,080,258	G324D	probably damaging	Het
Api5	T	G	2: 94,425,074	N252T	probably benign	Het
Arhgap45	T	A	10: 80,027,553	C743*	probably null	Het
Clpb	A	G	7: 101,779,337	T435A	probably damaging	Het
Csmd3	C	T	15: 47,849,677		probably null	Het
Cyp3a11	T	G	5: 145,869,166	R130S	probably damaging	Het
Dennd4c	A	G	4: 86,802,936	T612A	probably benign	Het
Eng	A	G	2: 32,671,486	I170V	probably benign	Het
Fam69a	A	G	5: 107,911,781	L57S	probably benign	Het
Gfra2	T	A	14: 70,967,084	M74K	possibly damaging	Het
Gpr137c	A	G	14: 45,277,487	T268A	possibly damaging	Het
Gramd3	T	C	18: 56,478,954		probably null	Het
Il13ra2	A	G	X: 147,383,673	L367P	possibly damaging	Het
Insr	T	C	8: 3,155,817	H1324R	probably benign	Het
Lgi3	A	G	14: 70,534,518	E215G	possibly damaging	Het
Myo16	A	T	8: 10,570,132	Q1561L	possibly damaging	Het
Obscn	A	C	11: 59,082,308	M2222R	probably damaging	Het
Olfr1020	T	G	2: 85,850,088	F212C	probably damaging	Het
Olfr1337	A	T	4: 118,782,429	V52D	possibly damaging	Het
Olfr62	A	T	4: 118,666,182	I222F	probably benign	Het
Olfr705	A	G	7: 106,714,630	I17T	probably benign	Het
Olfr914	A	G	9: 38,607,423		probably benign	Het
Plch1	G	A	3: 63,698,739	P1239L	possibly damaging	Het
Ptprm	A	T	17: 66,953,123	I499K	probably damaging	Het
Rabep2	G	T	7: 126,440,394	R331L	possibly damaging	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Sema7a	A	G	9: 57,957,606	T397A	probably benign	Het
Sftpc	A	C	14: 70,521,869	M124R	probably damaging	Het
Slc25a38	A	G	9: 120,120,812	Y198C	probably damaging	Het
Sppl2a	A	T	2: 126,904,941	M489K	possibly damaging	Het
Swt1	T	A	1: 151,370,626	K849N	probably benign	Het
Ttc3	T	A	16: 94,418,598		probably benign	Het
Vmn2r63	A	G	7: 42,904,008	V608A	probably benign	Het
Vwf	A	G	6: 125,642,406	Y1349C	probably damaging	Het
Ybx3	A	G	6: 131,368,408	V265A	probably benign	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het

Other mutations in Mst1r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Mst1r	APN	9	107913250	splice site	probably benign
IGL01327:Mst1r	APN	9	107907844	missense	probably benign	0.03
IGL01572:Mst1r	APN	9	107911592	missense	probably damaging	1.00
IGL01968:Mst1r	APN	9	107916806	splice site	probably null
IGL01983:Mst1r	APN	9	107917276	missense	probably damaging	0.99
IGL02096:Mst1r	APN	9	107917279	missense	probably damaging	0.97
IGL02203:Mst1r	APN	9	107913149	missense	possibly damaging	0.61
IGL02332:Mst1r	APN	9	107907826	nonsense	probably null
IGL02402:Mst1r	APN	9	107916827	missense	probably damaging	0.99
IGL02404:Mst1r	APN	9	107913067	splice site	probably benign
IGL02942:Mst1r	APN	9	107913153	missense	possibly damaging	0.89
IGL02951:Mst1r	APN	9	107908204	missense	possibly damaging	0.88
IGL02975:Mst1r	APN	9	107913180	missense	probably benign	0.20
IGL03005:Mst1r	APN	9	107914549	nonsense	probably null
IGL03304:Mst1r	APN	9	107907938	missense	probably damaging	1.00
R0386:Mst1r	UTSW	9	107916804	splice site	probably null
R0833:Mst1r	UTSW	9	107913167	missense	probably benign
R0833:Mst1r	UTSW	9	107914776	missense	probably benign	0.00
R1139:Mst1r	UTSW	9	107919969	missense	possibly damaging	0.93
R1371:Mst1r	UTSW	9	107917225	missense	probably damaging	1.00
R1477:Mst1r	UTSW	9	107908324	missense	probably benign
R1479:Mst1r	UTSW	9	107913345	splice site	probably benign
R1541:Mst1r	UTSW	9	107917363	missense	probably damaging	0.99
R1698:Mst1r	UTSW	9	107919980	missense	probably benign	0.06
R1891:Mst1r	UTSW	9	107913462	missense	probably damaging	1.00
R1971:Mst1r	UTSW	9	107913212	missense	probably benign	0.06
R1974:Mst1r	UTSW	9	107914763	missense	probably damaging	1.00
R1974:Mst1r	UTSW	9	107915933	critical splice donor site	probably null
R2144:Mst1r	UTSW	9	107913168	missense	probably benign
R2221:Mst1r	UTSW	9	107908348	missense	probably damaging	1.00
R2356:Mst1r	UTSW	9	107917870	missense	probably damaging	1.00
R3913:Mst1r	UTSW	9	107914746	missense	probably benign
R4768:Mst1r	UTSW	9	107911650	missense	probably damaging	1.00
R4793:Mst1r	UTSW	9	107919925	missense	probably damaging	0.96
R5141:Mst1r	UTSW	9	107912241	missense	probably damaging	0.99
R5191:Mst1r	UTSW	9	107911551	missense	probably damaging	0.98
R5238:Mst1r	UTSW	9	107907574	missense	probably damaging	1.00
R6024:Mst1r	UTSW	9	107908151	missense	probably benign	0.00
R6220:Mst1r	UTSW	9	107907348	missense	probably benign	0.11
R6256:Mst1r	UTSW	9	107917266	missense	probably damaging	1.00
R6361:Mst1r	UTSW	9	107915853	missense	probably benign
R6522:Mst1r	UTSW	9	107913239	missense	probably benign	0.00
R6559:Mst1r	UTSW	9	107908271	missense	possibly damaging	0.91
R6863:Mst1r	UTSW	9	107920026	missense	probably benign
R6868:Mst1r	UTSW	9	107915933	critical splice donor site	probably null
R6873:Mst1r	UTSW	9	107911644	missense	possibly damaging	0.90
R6978:Mst1r	UTSW	9	107912594	missense	probably benign	0.23
R7168:Mst1r	UTSW	9	107908193	missense	probably benign	0.01
R7299:Mst1r	UTSW	9	107914790	missense	possibly damaging	0.46
R7301:Mst1r	UTSW	9	107914790	missense	possibly damaging	0.46
R7405:Mst1r	UTSW	9	107915122	missense	possibly damaging	0.87
R7615:Mst1r	UTSW	9	107920012	missense	probably benign	0.05
R7684:Mst1r	UTSW	9	107911563	missense	probably benign	0.01
R7741:Mst1r	UTSW	9	107907120	start gained	probably benign
R7916:Mst1r	UTSW	9	107907578	missense	probably damaging	1.00
R7987:Mst1r	UTSW	9	107912798	splice site	probably null
R8177:Mst1r	UTSW	9	107907585	missense	probably damaging	1.00
R8356:Mst1r	UTSW	9	107917264	missense	probably damaging	1.00
R8494:Mst1r	UTSW	9	107914519	missense	possibly damaging	0.90
X0026:Mst1r	UTSW	9	107913203	missense	probably damaging	0.97

Posted On

2015-04-16