Mutagenetix > Incidental Mutation

Incidental Mutation 'R0833:Mst1r'

77649

Institutional Source

Beutler Lab

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

MMRRC Submission

039012-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.288) question?

Stock #

R0833 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107906873-107920383 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107913167 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 660 (V660I)

Ref Sequence

ENSEMBL: ENSMUSP00000035203 (fasta)

Gene Model

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

AlphaFold

Q62190

Predicted Effect

probably benign
Transcript: ENSMUST00000035203
AA Change: V660I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000035203
Gene: ENSMUSG00000032584
AA Change: V660I

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: ENSMUST00000194527

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195113

Predicted Effect

probably benign
Transcript: ENSMUST00000195617

SMART Domains

Protein: ENSMUSP00000142201
Gene: ENSMUSG00000032584

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.6%

Validation Efficiency

100% (97/97)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,165,069 (GRCm38)	L41P	probably damaging	Het
3110082I17Rik	A	G	5: 139,364,120 (GRCm38)	V58A	possibly damaging	Het
4932415M13Rik	A	T	17: 53,724,346 (GRCm38)		noncoding transcript	Het
Aldh1a7	C	T	19: 20,702,243 (GRCm38)	V390M	probably damaging	Het
Alg14	A	G	3: 121,298,610 (GRCm38)	H34R	probably damaging	Het
Ankrd27	A	G	7: 35,608,347 (GRCm38)	N337S	probably damaging	Het
Apoa2	T	A	1: 171,225,379 (GRCm38)		probably benign	Het
Arl2	T	G	19: 6,136,022 (GRCm38)	K126T	probably damaging	Het
Ascc3	T	C	10: 50,845,666 (GRCm38)	W2072R	probably benign	Het
Astl	T	C	2: 127,342,419 (GRCm38)	F21L	probably benign	Het
Asxl3	A	G	18: 22,516,040 (GRCm38)	D362G	probably damaging	Het
Bdp1	A	T	13: 100,035,825 (GRCm38)	H2094Q	probably benign	Het
Cacna2d4	C	T	6: 119,307,286 (GRCm38)	R745W	probably damaging	Het
Cbwd1	A	G	19: 24,940,839 (GRCm38)		probably benign	Het
Ccdc144b	A	G	3: 36,020,213 (GRCm38)		probably benign	Het
Ccdc85a	T	A	11: 28,583,296 (GRCm38)	I83F	probably damaging	Het
Ccnt2	T	A	1: 127,802,394 (GRCm38)	M336K	probably benign	Het
Cd226	A	C	18: 89,207,020 (GRCm38)		probably benign	Het
Ces1f	A	T	8: 93,270,024 (GRCm38)	S214T	probably damaging	Het
Clip1	T	C	5: 123,630,721 (GRCm38)	D605G	probably benign	Het
Col26a1	A	G	5: 136,765,300 (GRCm38)		probably null	Het
Crtc1	A	G	8: 70,393,013 (GRCm38)	V306A	probably benign	Het
D130043K22Rik	G	A	13: 24,863,580 (GRCm38)		probably benign	Het
D17H6S53E	A	T	17: 35,127,409 (GRCm38)		probably null	Het
D17Wsu92e	A	T	17: 27,786,138 (GRCm38)	S148R	probably damaging	Het
Dnah11	G	A	12: 118,196,662 (GRCm38)	A111V	probably benign	Het
Dyrk2	T	C	10: 118,861,122 (GRCm38)	H77R	probably benign	Het
E330017A01Rik	G	A	16: 58,635,523 (GRCm38)	S129L	probably damaging	Het
Epha3	A	G	16: 63,603,519 (GRCm38)		probably benign	Het
Epn2	T	C	11: 61,519,491 (GRCm38)	N611S	probably benign	Het
Erich6	A	C	3: 58,618,944 (GRCm38)		probably benign	Het
Fam217b	T	C	2: 178,420,989 (GRCm38)	S249P	probably benign	Het
Fam219b	A	G	9: 57,538,016 (GRCm38)		probably benign	Het
Fryl	A	T	5: 73,089,081 (GRCm38)		probably benign	Het
Gm12800	G	A	4: 101,910,097 (GRCm38)	C181Y	probably damaging	Het
Gm13089	A	T	4: 143,698,486 (GRCm38)	M129K	probably benign	Het
Gm14496	T	C	2: 181,996,266 (GRCm38)	W378R	probably damaging	Het
Gm5155	C	A	7: 17,904,981 (GRCm38)	A301E	possibly damaging	Het
Gm8674	A	T	13: 49,904,575 (GRCm38)		noncoding transcript	Het
Grap	T	A	11: 61,660,239 (GRCm38)	D32E	possibly damaging	Het
Grk2	C	A	19: 4,289,357 (GRCm38)	L428F	probably damaging	Het
Grm8	T	A	6: 27,363,179 (GRCm38)	E779V	probably damaging	Het
Hipk1	A	G	3: 103,754,296 (GRCm38)	S670P	probably damaging	Het
Itgae	A	T	11: 73,129,206 (GRCm38)	M845L	probably benign	Het
Itih1	A	T	14: 30,941,555 (GRCm38)	V164E	probably damaging	Het
Itpka	T	A	2: 119,750,831 (GRCm38)	N448K	probably damaging	Het
Jak3	A	C	8: 71,683,978 (GRCm38)	N643T	probably damaging	Het
Lrfn5	A	C	12: 61,839,668 (GRCm38)	T81P	probably damaging	Het
Lrrc45	T	A	11: 120,718,193 (GRCm38)		probably null	Het
March6	T	C	15: 31,480,291 (GRCm38)	Y562C	probably benign	Het
Mcrs1	T	C	15: 99,243,449 (GRCm38)		probably benign	Het
Meis1	G	A	11: 18,881,767 (GRCm38)	H424Y	possibly damaging	Het
Mthfd2l	T	C	5: 90,946,942 (GRCm38)	V90A	probably damaging	Het
Mtnr1a	A	T	8: 45,087,937 (GRCm38)	I312F	probably benign	Het
Olfr1513	T	C	14: 52,349,378 (GRCm38)	I223V	probably benign	Het
Olfr578	C	A	7: 102,984,836 (GRCm38)	L109F	possibly damaging	Het
Olfr875	T	C	9: 37,773,076 (GRCm38)	V139A	probably benign	Het
Otog	C	T	7: 46,269,362 (GRCm38)	T954I	possibly damaging	Het
Pdcd6	A	G	13: 74,316,324 (GRCm38)		probably benign	Het
Phlpp2	A	G	8: 109,937,106 (GRCm38)	T926A	probably damaging	Het
Plec	GGCAGCAG	GGCAGCAGCAG	15: 76,181,907 (GRCm38)		probably benign	Het
Plekha5	T	A	6: 140,589,634 (GRCm38)		probably benign	Het
Ppp1r16a	C	T	15: 76,693,669 (GRCm38)	Q328*	probably null	Het
Rab27b	T	C	18: 69,987,041 (GRCm38)		probably benign	Het
Rapsn	T	C	2: 91,036,808 (GRCm38)	Y152H	probably damaging	Het
Rasd1	A	T	11: 59,964,553 (GRCm38)	F85I	probably damaging	Het
Rgs1	A	T	1: 144,247,933 (GRCm38)	S85T	probably damaging	Het
Samd9l	T	C	6: 3,372,725 (GRCm38)	E1512G	possibly damaging	Het
Sgsm1	C	T	5: 113,279,184 (GRCm38)	A127T	probably benign	Het
Shc1	A	G	3: 89,422,969 (GRCm38)	D70G	probably damaging	Het
Slc26a1	T	A	5: 108,673,523 (GRCm38)	T167S	probably benign	Het
Slc26a7	A	T	4: 14,593,873 (GRCm38)	Y81N	probably damaging	Het
Slc2a12	T	C	10: 22,702,016 (GRCm38)		probably benign	Het
Slc30a7	T	A	3: 115,990,140 (GRCm38)		probably null	Het
Slc44a5	T	C	3: 154,265,474 (GRCm38)	S654P	probably damaging	Het
Stard9	T	G	2: 120,696,999 (GRCm38)	S1246A	possibly damaging	Het
Stxbp5	A	T	10: 9,865,099 (GRCm38)	S116R	probably damaging	Het
Syvn1	C	T	19: 6,052,453 (GRCm38)	P517L	probably benign	Het
Tas2r105	T	C	6: 131,687,430 (GRCm38)	I12V	probably benign	Het
Tas2r121	A	G	6: 132,700,362 (GRCm38)	S216P	probably damaging	Het
Tcof1	T	C	18: 60,845,832 (GRCm38)	D48G	probably damaging	Het
Tgm3	C	T	2: 130,026,682 (GRCm38)		probably benign	Het
Tle2	T	C	10: 81,588,947 (GRCm38)	F667L	probably damaging	Het
Tnfaip3	C	A	10: 19,002,949 (GRCm38)	A704S	probably benign	Het
Trabd2b	A	G	4: 114,580,322 (GRCm38)	Q232R	probably benign	Het
Ttc28	T	A	5: 111,231,081 (GRCm38)	I1144N	probably damaging	Het
Ucp3	T	A	7: 100,479,541 (GRCm38)	C25*	probably null	Het
Ugt3a2	A	G	15: 9,370,150 (GRCm38)	D460G	probably damaging	Het
Urb1	T	C	16: 90,795,448 (GRCm38)	D308G	possibly damaging	Het
Ush1g	G	T	11: 115,318,868 (GRCm38)	R167S	possibly damaging	Het
Vav3	A	G	3: 109,647,679 (GRCm38)	N81S	possibly damaging	Het
Vmn2r108	A	T	17: 20,471,459 (GRCm38)	D267E	probably benign	Het

Other mutations in Mst1r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Mst1r	APN	9	107,913,250 (GRCm38)	splice site	probably benign
IGL01327:Mst1r	APN	9	107,907,844 (GRCm38)	missense	probably benign	0.03
IGL01572:Mst1r	APN	9	107,911,592 (GRCm38)	missense	probably damaging	1.00
IGL01968:Mst1r	APN	9	107,916,806 (GRCm38)	splice site	probably null
IGL01983:Mst1r	APN	9	107,917,276 (GRCm38)	missense	probably damaging	0.99
IGL02096:Mst1r	APN	9	107,917,279 (GRCm38)	missense	probably damaging	0.97
IGL02203:Mst1r	APN	9	107,907,869 (GRCm38)	missense	probably damaging	1.00
IGL02203:Mst1r	APN	9	107,913,149 (GRCm38)	missense	possibly damaging	0.61
IGL02332:Mst1r	APN	9	107,907,826 (GRCm38)	nonsense	probably null
IGL02402:Mst1r	APN	9	107,916,827 (GRCm38)	missense	probably damaging	0.99
IGL02404:Mst1r	APN	9	107,913,067 (GRCm38)	splice site	probably benign
IGL02942:Mst1r	APN	9	107,913,153 (GRCm38)	missense	possibly damaging	0.89
IGL02951:Mst1r	APN	9	107,908,204 (GRCm38)	missense	possibly damaging	0.88
IGL02975:Mst1r	APN	9	107,913,180 (GRCm38)	missense	probably benign	0.20
IGL03005:Mst1r	APN	9	107,914,549 (GRCm38)	nonsense	probably null
IGL03304:Mst1r	APN	9	107,907,938 (GRCm38)	missense	probably damaging	1.00
R0386:Mst1r	UTSW	9	107,916,804 (GRCm38)	splice site	probably null
R0833:Mst1r	UTSW	9	107,914,776 (GRCm38)	missense	probably benign	0.00
R1139:Mst1r	UTSW	9	107,919,969 (GRCm38)	missense	possibly damaging	0.93
R1371:Mst1r	UTSW	9	107,917,225 (GRCm38)	missense	probably damaging	1.00
R1477:Mst1r	UTSW	9	107,908,324 (GRCm38)	missense	probably benign
R1479:Mst1r	UTSW	9	107,913,345 (GRCm38)	splice site	probably benign
R1541:Mst1r	UTSW	9	107,917,363 (GRCm38)	missense	probably damaging	0.99
R1698:Mst1r	UTSW	9	107,919,980 (GRCm38)	missense	probably benign	0.06
R1891:Mst1r	UTSW	9	107,913,462 (GRCm38)	missense	probably damaging	1.00
R1971:Mst1r	UTSW	9	107,913,212 (GRCm38)	missense	probably benign	0.06
R1974:Mst1r	UTSW	9	107,915,933 (GRCm38)	critical splice donor site	probably null
R1974:Mst1r	UTSW	9	107,914,763 (GRCm38)	missense	probably damaging	1.00
R2144:Mst1r	UTSW	9	107,913,168 (GRCm38)	missense	probably benign
R2221:Mst1r	UTSW	9	107,908,348 (GRCm38)	missense	probably damaging	1.00
R2356:Mst1r	UTSW	9	107,917,870 (GRCm38)	missense	probably damaging	1.00
R3913:Mst1r	UTSW	9	107,914,746 (GRCm38)	missense	probably benign
R4768:Mst1r	UTSW	9	107,911,650 (GRCm38)	missense	probably damaging	1.00
R4793:Mst1r	UTSW	9	107,919,925 (GRCm38)	missense	probably damaging	0.96
R5141:Mst1r	UTSW	9	107,912,241 (GRCm38)	missense	probably damaging	0.99
R5191:Mst1r	UTSW	9	107,911,551 (GRCm38)	missense	probably damaging	0.98
R5238:Mst1r	UTSW	9	107,907,574 (GRCm38)	missense	probably damaging	1.00
R6024:Mst1r	UTSW	9	107,908,151 (GRCm38)	missense	probably benign	0.00
R6220:Mst1r	UTSW	9	107,907,348 (GRCm38)	missense	probably benign	0.11
R6256:Mst1r	UTSW	9	107,917,266 (GRCm38)	missense	probably damaging	1.00
R6361:Mst1r	UTSW	9	107,915,853 (GRCm38)	missense	probably benign
R6522:Mst1r	UTSW	9	107,913,239 (GRCm38)	missense	probably benign	0.00
R6559:Mst1r	UTSW	9	107,908,271 (GRCm38)	missense	possibly damaging	0.91
R6863:Mst1r	UTSW	9	107,920,026 (GRCm38)	missense	probably benign
R6868:Mst1r	UTSW	9	107,915,933 (GRCm38)	critical splice donor site	probably null
R6873:Mst1r	UTSW	9	107,911,644 (GRCm38)	missense	possibly damaging	0.90
R6978:Mst1r	UTSW	9	107,912,594 (GRCm38)	missense	probably benign	0.23
R7168:Mst1r	UTSW	9	107,908,193 (GRCm38)	missense	probably benign	0.01
R7299:Mst1r	UTSW	9	107,914,790 (GRCm38)	missense	possibly damaging	0.46
R7301:Mst1r	UTSW	9	107,914,790 (GRCm38)	missense	possibly damaging	0.46
R7405:Mst1r	UTSW	9	107,915,122 (GRCm38)	missense	possibly damaging	0.87
R7615:Mst1r	UTSW	9	107,920,012 (GRCm38)	missense	probably benign	0.05
R7684:Mst1r	UTSW	9	107,911,563 (GRCm38)	missense	probably benign	0.01
R7741:Mst1r	UTSW	9	107,907,120 (GRCm38)	start gained	probably benign
R7916:Mst1r	UTSW	9	107,907,578 (GRCm38)	missense	probably damaging	1.00
R7987:Mst1r	UTSW	9	107,912,798 (GRCm38)	splice site	probably null
R8177:Mst1r	UTSW	9	107,907,585 (GRCm38)	missense	probably damaging	1.00
R8356:Mst1r	UTSW	9	107,917,264 (GRCm38)	missense	probably damaging	1.00
R8494:Mst1r	UTSW	9	107,914,519 (GRCm38)	missense	possibly damaging	0.90
R8692:Mst1r	UTSW	9	107,914,851 (GRCm38)	missense	possibly damaging	0.82
R8979:Mst1r	UTSW	9	107,915,279 (GRCm38)	missense	probably damaging	0.98
R9012:Mst1r	UTSW	9	107,914,761 (GRCm38)	missense	probably benign	0.01
X0026:Mst1r	UTSW	9	107,913,203 (GRCm38)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ACAAGCTGTATTGGCTCTGGCTTC -3'
(R):5'- ACTGGGTTCCATTGACCAGCAC -3'

Sequencing Primer
(F):5'- TTTAGCTGTGGACTAGACAAGG -3'
(R):5'- GGTGAGATAAGTACCCCCAGC -3'

Posted On

2013-10-16