Mutagenetix > Incidental Mutation

Incidental Mutation 'R1891:Mst1r'

211506

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

039911-MU

Accession Numbers

Essential gene?

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

Stock #

R1891 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107906873-107920383 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107913462 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 722 (N722K)

Ref Sequence

ENSEMBL: ENSMUSP00000035203 (fasta)

Gene Model

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

AlphaFold

Q62190

Predicted Effect

probably damaging
Transcript: ENSMUST00000035203
AA Change: N722K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035203
Gene: ENSMUSG00000032584
AA Change: N722K

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.7%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700074P13Rik	A	T	6: 40,926,033 (GRCm38)	M135K	possibly damaging	Het
Abca7	T	C	10: 80,005,040 (GRCm38)	I921T	possibly damaging	Het
Abca8a	T	C	11: 110,091,607 (GRCm38)	K3R	probably benign	Het
Adgrl3	A	T	5: 81,512,044 (GRCm38)	D152V	probably damaging	Het
Akap6	A	T	12: 53,142,175 (GRCm38)	D2124V	possibly damaging	Het
Akt1	A	G	12: 112,659,575 (GRCm38)	F88L	probably damaging	Het
Ankrd24	T	C	10: 81,643,508 (GRCm38)		probably benign	Het
Arid4b	T	A	13: 14,136,236 (GRCm38)	N141K	possibly damaging	Het
Cacna1c	C	A	6: 118,776,519 (GRCm38)	D219Y	probably damaging	Het
Ccdc113	A	G	8: 95,540,916 (GRCm38)	K170E	probably damaging	Het
Ccdc151	G	T	9: 21,995,381 (GRCm38)		probably null	Het
Ceacam9	A	G	7: 16,723,955 (GRCm38)	E136G	probably damaging	Het
Cfap43	A	G	19: 47,813,941 (GRCm38)	L333P	probably damaging	Het
Chl1	A	G	6: 103,714,583 (GRCm38)	D1062G	possibly damaging	Het
Ckb	TCCACCACCA	TCCACCA	12: 111,669,645 (GRCm38)		probably benign	Het
Clpp	T	A	17: 56,991,307 (GRCm38)	V91E	probably damaging	Het
Cndp1	A	T	18: 84,619,633 (GRCm38)	H325Q	probably null	Het
Cngb3	A	G	4: 19,366,446 (GRCm38)	N169S	probably benign	Het
Cog6	A	C	3: 52,983,180 (GRCm38)	I613R	probably benign	Het
Creb3l1	A	G	2: 91,987,040 (GRCm38)	L376P	probably damaging	Het
Cry2	A	T	2: 92,413,640 (GRCm38)	V396D	possibly damaging	Het
Cxxc5	A	G	18: 35,859,265 (GRCm38)	M240V	possibly damaging	Het
Defa28	G	A	8: 21,583,785 (GRCm38)	C68Y	probably damaging	Het
Dgcr14	C	T	16: 17,907,780 (GRCm38)	W183*	probably null	Het
Ecd	A	G	14: 20,338,159 (GRCm38)	I187T	probably damaging	Het
Erg28	A	G	12: 85,816,188 (GRCm38)	S117P	probably benign	Het
Ergic2	A	T	6: 148,183,079 (GRCm38)	C319S	probably damaging	Het
Evc2	A	C	5: 37,392,079 (GRCm38)	D773A	probably damaging	Het
Fam151b	T	A	13: 92,450,170 (GRCm38)	T252S	probably benign	Het
Fbxo28	A	T	1: 182,317,824 (GRCm38)	M233K	probably benign	Het
Fbxw26	T	G	9: 109,722,164 (GRCm38)	D355A	probably benign	Het
Gm13101	A	T	4: 143,966,665 (GRCm38)	V81E	probably damaging	Het
Gm4884	G	C	7: 41,043,115 (GRCm38)	E169D	possibly damaging	Het
Hk2	C	T	6: 82,749,283 (GRCm38)	R94Q	probably benign	Het
Hps4	G	A	5: 112,369,556 (GRCm38)		probably null	Het
Hspg2	T	A	4: 137,565,490 (GRCm38)	D4126E	probably damaging	Het
Kif13a	T	C	13: 46,929,219 (GRCm38)	E48G	possibly damaging	Het
Krt31	T	A	11: 100,047,808 (GRCm38)	N320Y	probably damaging	Het
Lca5	T	C	9: 83,395,608 (GRCm38)	Y561C	probably damaging	Het
Lrrk1	G	A	7: 66,279,300 (GRCm38)	L1195F	probably damaging	Het
Ly6g6d	A	C	17: 35,074,293 (GRCm38)	Y25*	probably null	Het
Map3k13	T	G	16: 21,911,086 (GRCm38)	M489R	probably damaging	Het
Mcm6	C	T	1: 128,335,810 (GRCm38)	R658H	probably damaging	Het
Mecp2	C	T	X: 74,037,175 (GRCm38)	A79T	probably damaging	Het
Mitf	A	G	6: 97,941,276 (GRCm38)	T94A	probably benign	Het
Mpo	T	A	11: 87,801,280 (GRCm38)	L513*	probably null	Het
Mthfd1l	T	A	10: 4,032,284 (GRCm38)	L497*	probably null	Het
Mtus1	C	T	8: 41,084,325 (GRCm38)	S118N	probably damaging	Het
Mybbp1a	C	T	11: 72,446,037 (GRCm38)	T565I	probably benign	Het
Naip2	C	T	13: 100,154,887 (GRCm38)	R1181K	probably benign	Het
Nbas	T	C	12: 13,390,972 (GRCm38)	M1101T	possibly damaging	Het
Olfr10	T	C	11: 49,317,857 (GRCm38)	F104L	probably benign	Het
Olfr1313	A	T	2: 112,072,394 (GRCm38)	L63Q	probably damaging	Het
Olfr19	T	A	16: 16,673,577 (GRCm38)	I135F	probably damaging	Het
Olfr290	T	A	7: 84,916,253 (GRCm38)	V158D	possibly damaging	Het
Olfr685	A	T	7: 105,180,547 (GRCm38)	Y270*	probably null	Het
Olfr820	T	C	10: 130,017,570 (GRCm38)	S70P	probably damaging	Het
Olfr835	T	C	9: 19,035,978 (GRCm38)	L285S	probably damaging	Het
Olfr875	T	A	9: 37,772,867 (GRCm38)	D69E	possibly damaging	Het
Oxct2b	A	G	4: 123,117,145 (GRCm38)	D286G	probably benign	Het
Pax5	A	T	4: 44,691,859 (GRCm38)	V129E	probably damaging	Het
Pax7	G	A	4: 139,784,626 (GRCm38)	R215C	probably damaging	Het
Pcdh7	A	T	5: 57,720,875 (GRCm38)	I591F	probably damaging	Het
Pcdhb22	T	C	18: 37,519,304 (GRCm38)	V275A	probably damaging	Het
Pkp3	C	T	7: 141,084,056 (GRCm38)		probably null	Het
Plekhb1	A	G	7: 100,655,392 (GRCm38)	L35P	probably damaging	Het
Pole	T	A	5: 110,332,542 (GRCm38)	F1993Y	probably damaging	Het
Prdx1	T	C	4: 116,699,254 (GRCm38)	*200R	probably null	Het
Prkdc	C	A	16: 15,725,436 (GRCm38)	T1777N	probably benign	Het
Ptpn14	G	A	1: 189,798,653 (GRCm38)	V106M	probably damaging	Het
Ptpn23	T	C	9: 110,393,800 (GRCm38)	E63G	possibly damaging	Het
Qser1	A	C	2: 104,790,099 (GRCm38)	S123A	probably benign	Het
Rbm11	A	G	16: 75,600,787 (GRCm38)	N202D	possibly damaging	Het
Robo3	T	A	9: 37,428,055 (GRCm38)	Y212F	probably damaging	Het
Sde2	G	A	1: 180,860,008 (GRCm38)	S153N	probably benign	Het
Serpinb1c	T	A	13: 32,884,252 (GRCm38)	D179V	probably benign	Het
Skint6	T	C	4: 112,846,696 (GRCm38)	D994G	possibly damaging	Het
Sorbs1	A	G	19: 40,393,460 (GRCm38)	S46P	probably damaging	Het
St8sia4	T	C	1: 95,591,708 (GRCm38)	T352A	possibly damaging	Het
Stab1	C	A	14: 31,141,330 (GRCm38)	R2133L	probably benign	Het
Stk11ip	T	C	1: 75,532,416 (GRCm38)	C730R	probably benign	Het
Tedc2	T	A	17: 24,216,317 (GRCm38)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,216,318 (GRCm38)	E366*	probably null	Het
Tex33	T	A	15: 78,378,752 (GRCm38)	D234V	probably damaging	Het
Tle4	A	T	19: 14,544,786 (GRCm38)		probably null	Het
Tmem200a	T	A	10: 25,994,072 (GRCm38)	N100Y	probably damaging	Het
Tnnt2	A	T	1: 135,840,859 (GRCm38)		probably null	Het
Ttn	T	A	2: 76,875,958 (GRCm38)		probably benign	Het
Ubac1	A	G	2: 26,014,962 (GRCm38)	V88A	probably benign	Het
Urgcp	T	C	11: 5,716,910 (GRCm38)	E476G	probably benign	Het
Vmn1r201	G	A	13: 22,475,255 (GRCm38)	R213H	probably benign	Het
Vmn2r84	C	T	10: 130,386,069 (GRCm38)	V761M	possibly damaging	Het
Vwde	A	T	6: 13,187,455 (GRCm38)	Y678N	probably damaging	Het
Wnk2	C	A	13: 49,052,724 (GRCm38)	E1865*	probably null	Het
Zc3h3	A	C	15: 75,756,931 (GRCm38)	M838R	possibly damaging	Het
Zfp959	T	A	17: 55,897,604 (GRCm38)	C211S	probably damaging	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
R0833:Mst1r	UTSW	9	107,913,167 (GRCm38)	missense	probably benign
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
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'- TCTTTGCCCTTGGATCATGG -3'
(R):5'- TCTGGGTGGGAAAGAGTCTC -3'

Sequencing Primer
(F):5'- CCCTTGGATCATGGGTGGTAC -3'
(R):5'- TCTCACGAGGAAGGGGCTG -3'

Posted On

2014-06-30