Incidental Mutation 'R6948:Mrgprx2'
ID |
540972 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mrgprx2
|
Ensembl Gene |
ENSMUSG00000074109 |
Gene Name |
MAS-related GPR, member X2 |
Synonyms |
Mrgprb10, MrgB10 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R6948 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
48128367-48149018 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 48132464 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 118
(V118D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127022
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098433]
[ENSMUST00000186394]
|
AlphaFold |
Q3UG50 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098433
AA Change: V118D
PolyPhen 2
Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000127022 Gene: ENSMUSG00000074109 AA Change: V118D
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srx
|
50 |
230 |
4.6e-10 |
PFAM |
Pfam:7tm_1
|
59 |
290 |
1e-6 |
PFAM |
low complexity region
|
319 |
334 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186394
|
SMART Domains |
Protein: ENSMUSP00000140945 Gene: ENSMUSG00000074109
Domain | Start | End | E-Value | Type |
SCOP:d1l9ha_
|
11 |
50 |
1e-5 |
SMART |
low complexity region
|
76 |
91 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
97% (36/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arfgap2 |
A |
G |
2: 91,097,524 (GRCm39) |
T107A |
probably benign |
Het |
Calhm3 |
T |
A |
19: 47,140,344 (GRCm39) |
M250L |
probably damaging |
Het |
Catsperb |
A |
T |
12: 101,447,327 (GRCm39) |
I276L |
probably benign |
Het |
Cd70 |
T |
C |
17: 57,456,594 (GRCm39) |
E3G |
probably damaging |
Het |
Cenpj |
A |
T |
14: 56,790,683 (GRCm39) |
S455R |
probably damaging |
Het |
Cgn |
C |
G |
3: 94,680,531 (GRCm39) |
E590D |
probably benign |
Het |
Cpvl |
T |
A |
6: 53,873,468 (GRCm39) |
I423F |
possibly damaging |
Het |
Cyp2c54 |
T |
A |
19: 40,034,636 (GRCm39) |
M345L |
possibly damaging |
Het |
Dner |
T |
C |
1: 84,383,738 (GRCm39) |
N549D |
probably damaging |
Het |
Fat4 |
T |
A |
3: 39,063,595 (GRCm39) |
L4517Q |
probably damaging |
Het |
Fbxw11 |
A |
G |
11: 32,692,597 (GRCm39) |
T523A |
probably damaging |
Het |
Flg |
A |
G |
3: 93,195,475 (GRCm39) |
|
probably benign |
Het |
Gcfc2 |
A |
G |
6: 81,910,734 (GRCm39) |
E237G |
probably benign |
Het |
Ipo5 |
G |
T |
14: 121,160,527 (GRCm39) |
M181I |
probably benign |
Het |
Itprid1 |
C |
T |
6: 55,955,470 (GRCm39) |
T1026I |
probably benign |
Het |
Klhl32 |
A |
G |
4: 24,629,250 (GRCm39) |
Y506H |
probably benign |
Het |
Mast3 |
G |
A |
8: 71,238,126 (GRCm39) |
T505I |
probably damaging |
Het |
Mtor |
T |
G |
4: 148,621,209 (GRCm39) |
V1869G |
probably benign |
Het |
Mycbp2 |
A |
T |
14: 103,522,703 (GRCm39) |
M720K |
possibly damaging |
Het |
Npy4r |
A |
G |
14: 33,868,731 (GRCm39) |
Y186H |
probably benign |
Het |
Obscn |
A |
G |
11: 58,997,142 (GRCm39) |
S1520P |
probably damaging |
Het |
Or10g1b |
A |
T |
14: 52,627,614 (GRCm39) |
F205L |
probably benign |
Het |
Pex1 |
A |
G |
5: 3,655,994 (GRCm39) |
N274D |
probably benign |
Het |
Plxnb1 |
T |
C |
9: 108,945,702 (GRCm39) |
Y2078H |
probably damaging |
Het |
Rasgrp1 |
T |
C |
2: 117,129,085 (GRCm39) |
D178G |
probably damaging |
Het |
Reln |
A |
G |
5: 22,177,033 (GRCm39) |
S1878P |
probably damaging |
Het |
Rims2 |
T |
C |
15: 39,374,737 (GRCm39) |
V1033A |
probably benign |
Het |
Scaf1 |
G |
T |
7: 44,662,971 (GRCm39) |
S14* |
probably null |
Het |
Serpinb9d |
A |
G |
13: 33,384,706 (GRCm39) |
S228G |
possibly damaging |
Het |
Slc22a14 |
C |
A |
9: 119,060,482 (GRCm39) |
A93S |
probably damaging |
Het |
Sox30 |
G |
A |
11: 45,908,166 (GRCm39) |
V778M |
probably damaging |
Het |
Tecrl |
T |
C |
5: 83,457,097 (GRCm39) |
I128V |
probably benign |
Het |
Trip10 |
T |
A |
17: 57,569,448 (GRCm39) |
C491S |
probably damaging |
Het |
Vmn1r26 |
A |
T |
6: 57,985,718 (GRCm39) |
M157K |
probably damaging |
Het |
Zbtb1 |
A |
T |
12: 76,432,601 (GRCm39) |
S196C |
probably damaging |
Het |
Zfp236 |
T |
C |
18: 82,662,187 (GRCm39) |
D582G |
possibly damaging |
Het |
Zfp384 |
A |
G |
6: 125,001,873 (GRCm39) |
T125A |
probably benign |
Het |
Zpr1 |
T |
G |
9: 46,184,939 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Mrgprx2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01603:Mrgprx2
|
APN |
7 |
48,132,374 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01655:Mrgprx2
|
APN |
7 |
48,132,439 (GRCm39) |
nonsense |
probably null |
|
IGL02052:Mrgprx2
|
APN |
7 |
48,132,042 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL02254:Mrgprx2
|
APN |
7 |
48,132,686 (GRCm39) |
missense |
probably benign |
0.16 |
IGL02985:Mrgprx2
|
APN |
7 |
48,132,245 (GRCm39) |
missense |
probably damaging |
0.98 |
R0026:Mrgprx2
|
UTSW |
7 |
48,131,771 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0387:Mrgprx2
|
UTSW |
7 |
48,148,908 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
R0514:Mrgprx2
|
UTSW |
7 |
48,132,712 (GRCm39) |
start codon destroyed |
probably null |
|
R0650:Mrgprx2
|
UTSW |
7 |
48,132,666 (GRCm39) |
missense |
probably damaging |
0.96 |
R1014:Mrgprx2
|
UTSW |
7 |
48,132,306 (GRCm39) |
splice site |
probably null |
|
R2011:Mrgprx2
|
UTSW |
7 |
48,132,282 (GRCm39) |
missense |
probably damaging |
0.96 |
R2224:Mrgprx2
|
UTSW |
7 |
48,132,608 (GRCm39) |
missense |
probably benign |
0.43 |
R4238:Mrgprx2
|
UTSW |
7 |
48,132,738 (GRCm39) |
missense |
probably benign |
|
R4846:Mrgprx2
|
UTSW |
7 |
48,132,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R5385:Mrgprx2
|
UTSW |
7 |
48,132,753 (GRCm39) |
missense |
probably benign |
0.11 |
R5891:Mrgprx2
|
UTSW |
7 |
48,131,994 (GRCm39) |
missense |
probably benign |
|
R6490:Mrgprx2
|
UTSW |
7 |
48,132,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R6576:Mrgprx2
|
UTSW |
7 |
48,132,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R6934:Mrgprx2
|
UTSW |
7 |
48,131,813 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7938:Mrgprx2
|
UTSW |
7 |
48,132,240 (GRCm39) |
missense |
probably benign |
0.01 |
R7944:Mrgprx2
|
UTSW |
7 |
48,132,753 (GRCm39) |
missense |
probably benign |
0.11 |
R7945:Mrgprx2
|
UTSW |
7 |
48,132,753 (GRCm39) |
missense |
probably benign |
0.11 |
R8221:Mrgprx2
|
UTSW |
7 |
48,132,527 (GRCm39) |
missense |
probably benign |
0.00 |
R8750:Mrgprx2
|
UTSW |
7 |
48,131,778 (GRCm39) |
missense |
probably benign |
|
R8782:Mrgprx2
|
UTSW |
7 |
48,132,299 (GRCm39) |
missense |
probably damaging |
0.98 |
R9015:Mrgprx2
|
UTSW |
7 |
48,148,938 (GRCm39) |
unclassified |
probably benign |
|
X0027:Mrgprx2
|
UTSW |
7 |
48,132,246 (GRCm39) |
missense |
probably damaging |
1.00 |
X0063:Mrgprx2
|
UTSW |
7 |
48,132,546 (GRCm39) |
missense |
probably benign |
0.04 |
Z1176:Mrgprx2
|
UTSW |
7 |
48,132,090 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- TACACCAACCAGGGTCACTAGTG -3'
(R):5'- TGGAAATGCCACAGTGCTG -3'
Sequencing Primer
(F):5'- GTCACTAGTGTAATATAGGAAGCCAC -3'
(R):5'- ACAGTGCTGTGGTTCCTG -3'
|
Posted On |
2018-11-28 |