Incidental Mutation 'IGL02096:Mst1r'
ID281110
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mst1r
Ensembl Gene ENSMUSG00000032584
Gene Namemacrophage stimulating 1 receptor (c-met-related tyrosine kinase)
SynonymsFv-2, Ron, CDw136, Fv2, friend virus susceptibility 2, PTK8, STK
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.198) question?
Stock #IGL02096
Quality Score
Status
Chromosome9
Chromosomal Location107906873-107920383 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 107917279 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 1219 (R1219H)
Ref Sequence ENSEMBL: ENSMUSP00000035203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035203] [ENSMUST00000195617]
Predicted Effect probably damaging
Transcript: ENSMUST00000035203
AA Change: R1219H

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000035203
Gene: ENSMUSG00000032584
AA Change: R1219H

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik C A 13: 63,061,089 A340E probably benign Het
Abca9 A G 11: 110,102,533 L1584P probably damaging Het
Abca9 G T 11: 110,165,980 H5N probably benign Het
Acox1 A T 11: 116,178,198 I371N probably damaging Het
Bmp5 A G 9: 75,898,551 N445S probably damaging Het
Cacna1b G T 2: 24,678,915 A999E probably benign Het
Cdc27 A T 11: 104,528,568 probably benign Het
D430042O09Rik G A 7: 125,814,821 C379Y probably benign Het
Dmxl2 T C 9: 54,401,065 E2134G possibly damaging Het
Dnttip2 A G 3: 122,284,413 N698S possibly damaging Het
Duox1 A T 2: 122,344,174 K1271M probably damaging Het
Dync1h1 T C 12: 110,632,820 Y1870H possibly damaging Het
Edem3 A G 1: 151,804,719 T532A probably benign Het
Epx A T 11: 87,869,468 L440Q probably damaging Het
F11 A G 8: 45,246,754 F432L probably benign Het
Fam185a C A 5: 21,425,343 P59Q probably damaging Het
Fsip2 A G 2: 82,991,860 D5979G possibly damaging Het
Furin A G 7: 80,393,459 S335P probably damaging Het
Gm10130 T C 2: 150,323,714 Y5H probably damaging Het
Gtf3c1 T A 7: 125,659,112 Q1262L probably damaging Het
Hmmr A T 11: 40,707,429 V652E probably benign Het
Iapp A T 6: 142,303,473 N84I probably benign Het
Mmp17 C T 5: 129,598,688 Q304* probably null Het
Mpl T C 4: 118,457,136 T55A possibly damaging Het
Muc6 T A 7: 141,639,850 probably benign Het
Nalcn C T 14: 123,594,503 V120I probably benign Het
Nt5dc1 A T 10: 34,399,810 C134* probably null Het
Obscn A C 11: 59,080,704 N2228K probably damaging Het
Olfr135 T A 17: 38,209,183 *313R probably null Het
Osbpl10 T C 9: 115,216,994 M566T possibly damaging Het
Pabpc1l G A 2: 164,044,347 V466I probably benign Het
Pdcd11 T G 19: 47,106,421 V548G probably benign Het
Prss27 G T 17: 24,044,977 K212N possibly damaging Het
Ranbp2 T A 10: 58,461,967 S399T probably damaging Het
Rgs19 A G 2: 181,689,283 S159P probably damaging Het
Sh2b1 A G 7: 126,469,293 S449P probably damaging Het
Slc6a18 T A 13: 73,672,751 Y238F probably benign Het
Stx11 T C 10: 12,941,480 I167V probably benign Het
Sucnr1 A G 3: 60,086,950 M300V possibly damaging Het
Synj2 A G 17: 5,990,353 T235A probably damaging Het
Ubxn2b T A 4: 6,214,749 I261N probably damaging Het
Vmn2r43 G A 7: 8,257,513 probably benign Het
Vmn2r45 A G 7: 8,481,444 M454T probably damaging Het
Vsig2 T A 9: 37,539,955 S51T probably damaging Het
Wdr41 T C 13: 95,017,456 probably benign Het
Wdr6 A C 9: 108,576,553 L44V probably damaging Het
Zfp592 T C 7: 81,025,048 Y587H probably damaging Het
Zfp735 A T 11: 73,711,428 K399N probably benign Het
Other mutations in Mst1r
AlleleSourceChrCoordTypePredicted EffectPPH 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
IGL02203:Mst1r APN 9 107913149 missense possibly damaging 0.61
IGL02203:Mst1r APN 9 107907869 missense probably damaging 1.00
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
R8692:Mst1r UTSW 9 107914851 missense possibly damaging 0.82
X0026:Mst1r UTSW 9 107913203 missense probably damaging 0.97
Posted On2015-04-16