Incidental Mutation 'R2221:Mst1r'
| ID |
241501 |
| 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 |
040223-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.340)
|
| Stock # |
R2221 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107784072-107797582 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107785547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 402
(F402L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035203]
[ENSMUST00000195617]
|
| AlphaFold |
Q62190 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035203
AA Change: F402L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000035203
Gene: ENSMUSG00000032584
AA Change: F402L
| 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 damaging
Transcript: ENSMUST00000195617
AA Change: F402L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142201
Gene: ENSMUSG00000032584
AA Change: F402L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Sema
|
57 |
442 |
3.5e-63 |
SMART |
|
| Meta Mutation Damage Score |
0.1158 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (58/58) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
A |
C |
4: 86,306,762 (GRCm39) |
D1392A |
probably benign |
Het |
| Afdn |
T |
C |
17: 14,103,999 (GRCm39) |
|
probably benign |
Het |
| Aph1b |
A |
T |
9: 66,691,921 (GRCm39) |
M121K |
probably damaging |
Het |
| Aspg |
G |
A |
12: 112,080,868 (GRCm39) |
A120T |
probably damaging |
Het |
| Bicd1 |
A |
G |
6: 149,418,503 (GRCm39) |
T725A |
probably damaging |
Het |
| Cd1d2 |
A |
T |
3: 86,895,847 (GRCm39) |
I292F |
probably damaging |
Het |
| Cdcp3 |
A |
T |
7: 130,849,186 (GRCm39) |
|
probably null |
Het |
| Cdk13 |
A |
G |
13: 17,894,120 (GRCm39) |
V495A |
probably damaging |
Het |
| Cfd |
A |
T |
10: 79,728,039 (GRCm39) |
|
probably null |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Cradd |
A |
C |
10: 95,011,735 (GRCm39) |
V135G |
probably benign |
Het |
| Cry1 |
A |
G |
10: 84,979,617 (GRCm39) |
C460R |
probably damaging |
Het |
| Ctu2 |
A |
G |
8: 123,207,649 (GRCm39) |
E375G |
probably damaging |
Het |
| Dym |
T |
G |
18: 75,363,236 (GRCm39) |
I580S |
probably damaging |
Het |
| Eif3e |
A |
G |
15: 43,114,943 (GRCm39) |
L411P |
possibly damaging |
Het |
| Emsy |
T |
C |
7: 98,239,982 (GRCm39) |
E1091G |
possibly damaging |
Het |
| Enkur |
A |
G |
2: 21,194,130 (GRCm39) |
|
probably benign |
Het |
| Fam184a |
G |
A |
10: 53,531,175 (GRCm39) |
T733M |
probably damaging |
Het |
| Frem2 |
G |
A |
3: 53,424,278 (GRCm39) |
A3053V |
probably benign |
Het |
| Gbgt1 |
T |
C |
2: 28,388,435 (GRCm39) |
L40P |
probably damaging |
Het |
| Gm5174 |
T |
A |
10: 86,492,372 (GRCm39) |
|
noncoding transcript |
Het |
| Gys2 |
G |
T |
6: 142,402,148 (GRCm39) |
D230E |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,818,766 (GRCm39) |
|
probably null |
Het |
| Hps3 |
A |
T |
3: 20,056,527 (GRCm39) |
S815R |
probably benign |
Het |
| Igf1r |
C |
A |
7: 67,851,710 (GRCm39) |
S983R |
probably damaging |
Het |
| Itsn1 |
T |
A |
16: 91,650,656 (GRCm39) |
|
probably benign |
Het |
| Kcnc2 |
A |
G |
10: 112,292,431 (GRCm39) |
N91D |
probably damaging |
Het |
| Kif28 |
C |
A |
1: 179,560,676 (GRCm39) |
A210S |
possibly damaging |
Het |
| Klri2 |
T |
A |
6: 129,717,272 (GRCm39) |
Q37L |
probably damaging |
Het |
| Lrrc38 |
T |
A |
4: 143,096,419 (GRCm39) |
C243* |
probably null |
Het |
| Map3k5 |
T |
C |
10: 19,943,666 (GRCm39) |
V590A |
possibly damaging |
Het |
| Mdn1 |
C |
A |
4: 32,763,306 (GRCm39) |
F5135L |
probably benign |
Het |
| Megf11 |
G |
A |
9: 64,567,713 (GRCm39) |
G401S |
possibly damaging |
Het |
| Ntrk3 |
T |
C |
7: 77,848,600 (GRCm39) |
I759V |
probably damaging |
Het |
| Nup188 |
T |
C |
2: 30,226,936 (GRCm39) |
|
probably benign |
Het |
| Or4a71 |
C |
T |
2: 89,358,281 (GRCm39) |
V158I |
probably benign |
Het |
| Or8b12i |
T |
C |
9: 20,082,388 (GRCm39) |
S160G |
possibly damaging |
Het |
| Prdm2 |
T |
C |
4: 142,861,469 (GRCm39) |
N607S |
possibly damaging |
Het |
| Prl2a1 |
T |
A |
13: 27,990,369 (GRCm39) |
|
probably null |
Het |
| Serpina9 |
T |
A |
12: 103,964,523 (GRCm39) |
I305F |
probably damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc19a1 |
C |
T |
10: 76,878,320 (GRCm39) |
T285I |
probably benign |
Het |
| Snap91 |
T |
C |
9: 86,674,580 (GRCm39) |
T544A |
possibly damaging |
Het |
| Srgap3 |
A |
G |
6: 112,923,454 (GRCm39) |
S2P |
probably damaging |
Het |
| Tcof1 |
A |
G |
18: 60,970,973 (GRCm39) |
V210A |
possibly damaging |
Het |
| Tex261 |
A |
G |
6: 83,748,497 (GRCm39) |
I136T |
probably benign |
Het |
| Trpa1 |
A |
T |
1: 14,973,480 (GRCm39) |
F279L |
probably null |
Het |
| Ttc39b |
T |
C |
4: 83,150,999 (GRCm39) |
N532S |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,572,438 (GRCm39) |
T26152A |
probably damaging |
Het |
| Ube2w |
A |
G |
1: 16,668,183 (GRCm39) |
S97P |
possibly damaging |
Het |
| Vmn1r25 |
A |
C |
6: 57,956,223 (GRCm39) |
L22R |
probably damaging |
Het |
| Vmn1r64 |
T |
C |
7: 5,887,448 (GRCm39) |
I32V |
probably benign |
Het |
| Vmn2r112 |
T |
G |
17: 22,820,214 (GRCm39) |
M29R |
possibly damaging |
Het |
| Vmn2r71 |
T |
A |
7: 85,273,301 (GRCm39) |
M705K |
probably benign |
Het |
| Vps13b |
G |
A |
15: 35,884,743 (GRCm39) |
V3139I |
probably benign |
Het |
| Zfp628 |
T |
C |
7: 4,923,830 (GRCm39) |
V684A |
probably benign |
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 |
|
R1971:Mst1r
|
UTSW |
9 |
107,790,411 (GRCm39) |
missense |
probably benign |
0.06 |
|
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 |
|
|
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'- TTTCAGAGGGCCAGGAAGTG -3'
(R):5'- TATGACGTAAGCCCCTCCTC -3'
Sequencing Primer
(F):5'- AGGGCCAGGAAGTGCTTTTTG -3'
(R):5'- CCCTGGAAGCTATCTTAAAGAATCAG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation