Mutagenetix > Incidental Mutation

Incidental Mutation 'R1971:Mst1r'

220901

Institutional Source

Beutler Lab

Gene Symbol

Mst1r

Ensembl Gene

ENSMUSG00000032584

Gene Name

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

Synonyms

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

MMRRC Submission

039984-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.261) question?

Stock #

R1971 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107784072-107797582 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107790411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 675 (I675F)

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: I675F

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000035203
Gene: ENSMUSG00000032584
AA Change: I675F

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

99% (115/116)

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,686,566 (GRCm39)	I242N	probably benign	Het
2510009E07Rik	G	T	16: 21,472,048 (GRCm39)	Y217*	probably null	Het
4931429L15Rik	C	T	9: 46,220,086 (GRCm39)	V149M	probably benign	Het
Abcg8	G	T	17: 85,002,587 (GRCm39)		probably benign	Het
Acox1	A	G	11: 116,089,087 (GRCm39)	F77S	probably benign	Het
Adgrb3	G	T	1: 25,586,525 (GRCm39)	H389Q	probably benign	Het
Ak7	A	G	12: 105,692,504 (GRCm39)	N186S	probably damaging	Het
Apobr	A	G	7: 126,185,397 (GRCm39)	T303A	probably benign	Het
Arnt	C	T	3: 95,355,704 (GRCm39)	S16L	possibly damaging	Het
Bcl9l	T	C	9: 44,419,996 (GRCm39)		probably null	Het
Bco2	T	C	9: 50,457,284 (GRCm39)	D86G	probably damaging	Het
Bmpr1b	T	A	3: 141,563,333 (GRCm39)	I204F	probably damaging	Het
Bpifb5	C	A	2: 154,072,264 (GRCm39)	Q324K	probably benign	Het
Cacna2d2	G	A	9: 107,389,205 (GRCm39)	V223I	probably damaging	Het
Capn3	A	G	2: 120,311,228 (GRCm39)	D105G	possibly damaging	Het
Ccdc40	G	T	11: 119,153,901 (GRCm39)		probably null	Het
Ccdc83	T	A	7: 89,893,362 (GRCm39)	S132C	probably damaging	Het
Ckap2l	A	G	2: 129,127,342 (GRCm39)	S279P	possibly damaging	Het
Cldn12	C	A	5: 5,558,137 (GRCm39)	A97S	probably benign	Het
Clec2l	T	G	6: 38,640,309 (GRCm39)	S47A	probably benign	Het
Csnk1d	C	A	11: 120,863,274 (GRCm39)	R222M	possibly damaging	Het
Ctnna1	T	A	18: 35,287,580 (GRCm39)	D96E	probably benign	Het
D630045J12Rik	T	C	6: 38,145,078 (GRCm39)	D1316G	probably damaging	Het
Ddx4	C	T	13: 112,736,547 (GRCm39)	V608I	probably damaging	Het
Dmtf1	T	C	5: 9,198,989 (GRCm39)	E48G	probably benign	Het
Dnah17	G	C	11: 117,995,361 (GRCm39)	Q996E	probably benign	Het
Dnah9	G	C	11: 65,739,197 (GRCm39)	N4180K	probably damaging	Het
Dpf3	T	A	12: 83,371,809 (GRCm39)		probably null	Het
Drd2	T	C	9: 49,318,359 (GRCm39)	F434L	probably damaging	Het
En1	A	G	1: 120,534,742 (GRCm39)	T344A	unknown	Het
Eri3	A	G	4: 117,421,964 (GRCm39)	T81A	probably benign	Het
Fam20a	T	C	11: 109,576,237 (GRCm39)	Y174C	probably damaging	Het
Fam234a	G	C	17: 26,435,629 (GRCm39)		probably null	Het
Fam76a	A	T	4: 132,631,294 (GRCm39)	I217N	probably damaging	Het
Fancm	T	A	12: 65,148,466 (GRCm39)	S694T	probably benign	Het
Fcgbpl1	C	A	7: 27,830,937 (GRCm39)	A50E	possibly damaging	Het
Foxo3	A	G	10: 42,073,258 (GRCm39)	S420P	probably benign	Het
Foxp4	C	T	17: 48,186,796 (GRCm39)	R378Q	unknown	Het
Gm136	T	G	4: 34,755,986 (GRCm39)	D9A	probably benign	Het
Gstt2	G	T	10: 75,668,499 (GRCm39)	T116N	probably benign	Het
Hs3st6	A	G	17: 24,972,267 (GRCm39)	T70A	probably benign	Het
Hspa14	A	G	2: 3,490,804 (GRCm39)	V461A	possibly damaging	Het
Itih5	A	T	2: 10,243,379 (GRCm39)	D372V	probably damaging	Het
Kcna2	A	T	3: 107,012,140 (GRCm39)	R240S	probably damaging	Het
Kctd18	T	C	1: 58,006,779 (GRCm39)	I24V	probably benign	Het
Lap3	T	C	5: 45,663,508 (GRCm39)		probably benign	Het
Lcp1	T	C	14: 75,437,946 (GRCm39)	S119P	probably damaging	Het
Lig3	G	C	11: 82,686,544 (GRCm39)	D642H	probably benign	Het
Lpin1	A	T	12: 16,630,724 (GRCm39)	L58H	probably damaging	Het
Map4k5	G	T	12: 69,873,102 (GRCm39)	P468Q	possibly damaging	Het
Med31	G	A	11: 72,106,244 (GRCm39)		probably benign	Het
Mki67	A	T	7: 135,315,688 (GRCm39)		probably null	Het
Mrc1	G	A	2: 14,249,103 (GRCm39)		probably null	Het
Msh3	A	G	13: 92,359,784 (GRCm39)	I16T	probably damaging	Het
Msh3	T	A	13: 92,386,328 (GRCm39)		probably benign	Het
Myb	A	C	10: 21,016,555 (GRCm39)	S652A	probably benign	Het
Myh2	G	T	11: 67,080,004 (GRCm39)	S1099I	possibly damaging	Het
Myl6b	A	G	10: 128,330,512 (GRCm39)	V181A	probably damaging	Het
Myt1l	A	T	12: 29,877,091 (GRCm39)	K247N	unknown	Het
Nanos2	G	T	7: 18,721,629 (GRCm39)	V34L	probably benign	Het
Nav1	T	C	1: 135,460,091 (GRCm39)	T411A	probably benign	Het
Nedd9	T	A	13: 41,492,424 (GRCm39)	I23F	probably damaging	Het
Nes	G	A	3: 87,885,634 (GRCm39)	V1254I	possibly damaging	Het
Nol6	A	G	4: 41,119,542 (GRCm39)	F588S	probably damaging	Het
Numa1	C	T	7: 101,658,529 (GRCm39)	A1605V	probably damaging	Het
Ofd1	T	C	X: 165,210,210 (GRCm39)	Y205C	probably benign	Het
Olr1	T	C	6: 129,470,498 (GRCm39)	E223G	probably benign	Het
Or1e30	T	A	11: 73,678,616 (GRCm39)	M284K	probably damaging	Het
Or2ag12	T	A	7: 106,276,877 (GRCm39)	N272I	probably damaging	Het
Or4c118	A	T	2: 88,975,078 (GRCm39)	C96*	probably null	Het
Or51k2	A	T	7: 103,596,150 (GRCm39)	I126F	probably damaging	Het
Or51l4	C	T	7: 103,404,527 (GRCm39)	W88*	probably null	Het
Pate6	T	A	9: 35,700,309 (GRCm39)	H92L	probably benign	Het
Pclo	A	G	5: 14,763,487 (GRCm39)	T3987A	unknown	Het
Pik3cg	A	T	12: 32,242,152 (GRCm39)	V986D	probably damaging	Het
Pitpnm1	T	A	19: 4,162,450 (GRCm39)	D1093E	probably damaging	Het
Ppp1r12b	T	C	1: 134,793,651 (GRCm39)	D571G	probably benign	Het
Rfx1	A	G	8: 84,822,126 (GRCm39)	E875G	probably damaging	Het
Rnf145	T	A	11: 44,439,642 (GRCm39)	I146N	probably damaging	Het
Rttn	G	A	18: 89,108,557 (GRCm39)	R1587H	probably benign	Het
Safb	A	G	17: 56,912,821 (GRCm39)	H883R	probably benign	Het
Sdhb	A	G	4: 140,700,260 (GRCm39)	D120G	possibly damaging	Het
Serpine3	A	G	14: 62,902,533 (GRCm39)	N48S	probably damaging	Het
Sgms1	T	A	19: 32,137,357 (GRCm39)	I70L	probably benign	Het
Slc1a7	G	T	4: 107,825,782 (GRCm39)	D14Y	probably benign	Het
Smtnl2	C	T	11: 72,302,183 (GRCm39)	A93T	probably benign	Het
Srpra	T	C	9: 35,124,834 (GRCm39)		probably null	Het
Taf6l	A	G	19: 8,752,866 (GRCm39)		probably null	Het
Tbc1d10b	A	T	7: 126,807,036 (GRCm39)	V167E	probably benign	Het
Tbc1d9	G	A	8: 83,976,139 (GRCm39)	R566H	probably damaging	Het
Tenm3	A	G	8: 48,689,348 (GRCm39)	Y2080H	probably damaging	Het
Tex14	A	G	11: 87,402,431 (GRCm39)	N506S	probably damaging	Het
Thada	G	T	17: 84,617,470 (GRCm39)	P1349T	probably damaging	Het
Tjp1	G	T	7: 64,973,826 (GRCm39)	T476K	probably damaging	Het
Tlr11	A	T	14: 50,598,691 (GRCm39)	T226S	probably benign	Het
Tmem131	G	A	1: 36,843,680 (GRCm39)	Q1394*	probably null	Het
Tmem161a	C	T	8: 70,629,559 (GRCm39)	R58W	probably damaging	Het
Tmem219	T	C	7: 126,496,422 (GRCm39)	S13G	probably benign	Het
Trp53bp1	T	C	2: 121,035,517 (GRCm39)	Y47C	probably damaging	Het
Ttn	T	A	2: 76,731,922 (GRCm39)		probably benign	Het
Ush1g	A	G	11: 115,209,280 (GRCm39)	S305P	probably damaging	Het
Usp37	A	T	1: 74,479,127 (GRCm39)	Y948*	probably null	Het
Vav1	A	T	17: 57,634,697 (GRCm39)	Y805F	probably damaging	Het
Vmn1r59	A	T	7: 5,457,038 (GRCm39)	Y241N	probably damaging	Het
Vmn2r2	T	A	3: 64,034,121 (GRCm39)	Y467F	probably damaging	Het
Vps35l	A	C	7: 118,374,557 (GRCm39)	R352S	probably damaging	Het
Vps54	C	A	11: 21,242,051 (GRCm39)	L389I	probably damaging	Het
Vwa8	G	T	14: 79,162,694 (GRCm39)		probably benign	Het
Wdr19	G	T	5: 65,398,503 (GRCm39)		probably benign	Het
Wnt2b	A	T	3: 104,861,933 (GRCm39)		probably benign	Het
Xirp2	A	G	2: 67,342,039 (GRCm39)	R1427G	possibly damaging	Het
Ylpm1	T	C	12: 85,087,560 (GRCm39)	S1115P	probably damaging	Het
Zfp946	T	A	17: 22,674,406 (GRCm39)	C387S	probably damaging	Het

Other mutations in Mst1r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Mst1r	APN	9	107,790,449 (GRCm39)	splice site	probably benign
IGL01327:Mst1r	APN	9	107,785,043 (GRCm39)	missense	probably benign	0.03
IGL01572:Mst1r	APN	9	107,788,791 (GRCm39)	missense	probably damaging	1.00
IGL01968:Mst1r	APN	9	107,794,005 (GRCm39)	splice site	probably null
IGL01983:Mst1r	APN	9	107,794,475 (GRCm39)	missense	probably damaging	0.99
IGL02096:Mst1r	APN	9	107,794,478 (GRCm39)	missense	probably damaging	0.97
IGL02203:Mst1r	APN	9	107,785,068 (GRCm39)	missense	probably damaging	1.00
IGL02203:Mst1r	APN	9	107,790,348 (GRCm39)	missense	possibly damaging	0.61
IGL02332:Mst1r	APN	9	107,785,025 (GRCm39)	nonsense	probably null
IGL02402:Mst1r	APN	9	107,794,026 (GRCm39)	missense	probably damaging	0.99
IGL02404:Mst1r	APN	9	107,790,266 (GRCm39)	splice site	probably benign
IGL02942:Mst1r	APN	9	107,790,352 (GRCm39)	missense	possibly damaging	0.89
IGL02951:Mst1r	APN	9	107,785,403 (GRCm39)	missense	possibly damaging	0.88
IGL02975:Mst1r	APN	9	107,790,379 (GRCm39)	missense	probably benign	0.20
IGL03005:Mst1r	APN	9	107,791,748 (GRCm39)	nonsense	probably null
IGL03304:Mst1r	APN	9	107,785,137 (GRCm39)	missense	probably damaging	1.00
R0386:Mst1r	UTSW	9	107,794,003 (GRCm39)	splice site	probably null
R0833:Mst1r	UTSW	9	107,791,975 (GRCm39)	missense	probably benign	0.00
R0833:Mst1r	UTSW	9	107,790,366 (GRCm39)	missense	probably benign
R1139:Mst1r	UTSW	9	107,797,168 (GRCm39)	missense	possibly damaging	0.93
R1371:Mst1r	UTSW	9	107,794,424 (GRCm39)	missense	probably damaging	1.00
R1477:Mst1r	UTSW	9	107,785,523 (GRCm39)	missense	probably benign
R1479:Mst1r	UTSW	9	107,790,544 (GRCm39)	splice site	probably benign
R1541:Mst1r	UTSW	9	107,794,562 (GRCm39)	missense	probably damaging	0.99
R1698:Mst1r	UTSW	9	107,797,179 (GRCm39)	missense	probably benign	0.06
R1891:Mst1r	UTSW	9	107,790,661 (GRCm39)	missense	probably damaging	1.00
R1974:Mst1r	UTSW	9	107,793,132 (GRCm39)	critical splice donor site	probably null
R1974:Mst1r	UTSW	9	107,791,962 (GRCm39)	missense	probably damaging	1.00
R2144:Mst1r	UTSW	9	107,790,367 (GRCm39)	missense	probably benign
R2221:Mst1r	UTSW	9	107,785,547 (GRCm39)	missense	probably damaging	1.00
R2356:Mst1r	UTSW	9	107,795,069 (GRCm39)	missense	probably damaging	1.00
R3913:Mst1r	UTSW	9	107,791,945 (GRCm39)	missense	probably benign
R4768:Mst1r	UTSW	9	107,788,849 (GRCm39)	missense	probably damaging	1.00
R4793:Mst1r	UTSW	9	107,797,124 (GRCm39)	missense	probably damaging	0.96
R5141:Mst1r	UTSW	9	107,789,440 (GRCm39)	missense	probably damaging	0.99
R5191:Mst1r	UTSW	9	107,788,750 (GRCm39)	missense	probably damaging	0.98
R5238:Mst1r	UTSW	9	107,784,773 (GRCm39)	missense	probably damaging	1.00
R6024:Mst1r	UTSW	9	107,785,350 (GRCm39)	missense	probably benign	0.00
R6220:Mst1r	UTSW	9	107,784,547 (GRCm39)	missense	probably benign	0.11
R6256:Mst1r	UTSW	9	107,794,465 (GRCm39)	missense	probably damaging	1.00
R6361:Mst1r	UTSW	9	107,793,052 (GRCm39)	missense	probably benign
R6522:Mst1r	UTSW	9	107,790,438 (GRCm39)	missense	probably benign	0.00
R6559:Mst1r	UTSW	9	107,785,470 (GRCm39)	missense	possibly damaging	0.91
R6863:Mst1r	UTSW	9	107,797,225 (GRCm39)	missense	probably benign
R6868:Mst1r	UTSW	9	107,793,132 (GRCm39)	critical splice donor site	probably null
R6873:Mst1r	UTSW	9	107,788,843 (GRCm39)	missense	possibly damaging	0.90
R6978:Mst1r	UTSW	9	107,789,793 (GRCm39)	missense	probably benign	0.23
R7168:Mst1r	UTSW	9	107,785,392 (GRCm39)	missense	probably benign	0.01
R7299:Mst1r	UTSW	9	107,791,989 (GRCm39)	missense	possibly damaging	0.46
R7301:Mst1r	UTSW	9	107,791,989 (GRCm39)	missense	possibly damaging	0.46
R7405:Mst1r	UTSW	9	107,792,321 (GRCm39)	missense	possibly damaging	0.87
R7615:Mst1r	UTSW	9	107,797,211 (GRCm39)	missense	probably benign	0.05
R7684:Mst1r	UTSW	9	107,788,762 (GRCm39)	missense	probably benign	0.01
R7741:Mst1r	UTSW	9	107,784,319 (GRCm39)	start gained	probably benign
R7916:Mst1r	UTSW	9	107,784,777 (GRCm39)	missense	probably damaging	1.00
R7987:Mst1r	UTSW	9	107,789,997 (GRCm39)	splice site	probably null
R8177:Mst1r	UTSW	9	107,784,784 (GRCm39)	missense	probably damaging	1.00
R8356:Mst1r	UTSW	9	107,794,463 (GRCm39)	missense	probably damaging	1.00
R8494:Mst1r	UTSW	9	107,791,718 (GRCm39)	missense	possibly damaging	0.90
R8692:Mst1r	UTSW	9	107,792,050 (GRCm39)	missense	possibly damaging	0.82
R8979:Mst1r	UTSW	9	107,792,478 (GRCm39)	missense	probably damaging	0.98
R9012:Mst1r	UTSW	9	107,791,960 (GRCm39)	missense	probably benign	0.01
X0026:Mst1r	UTSW	9	107,790,402 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGGTTCAGAGAAGCCTCGTG -3'
(R):5'- TCAAGGGTGAGATAAGTACCCC -3'

Sequencing Primer
(F):5'- GTTCAGAGAAGCCTCGTGACTTAC -3'
(R):5'- GGTGAGATAAGTACCCCCAGCC -3'

Posted On

2014-08-25