Incidental Mutation 'IGL02254:Mrgprx2'
| ID |
286549 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.058)
|
| Stock # |
IGL02254
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
48128367-48149018 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 48132686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 10
(T10I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140945
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098433]
[ENSMUST00000186394]
|
| AlphaFold |
Q3UG50 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098433
AA Change: T44I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000127022
Gene: ENSMUSG00000074109
AA Change: T44I
| 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
AA Change: T10I
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000140945
Gene: ENSMUSG00000074109
AA Change: T10I
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1l9ha_
|
11 |
50 |
1e-5 |
SMART |
|
low complexity region
|
76 |
91 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agk |
T |
C |
6: 40,358,180 (GRCm39) |
W211R |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,506,827 (GRCm39) |
|
probably null |
Het |
| Calcrl |
A |
G |
2: 84,178,552 (GRCm39) |
W259R |
probably damaging |
Het |
| Cenpe |
T |
A |
3: 134,961,238 (GRCm39) |
C1911S |
probably benign |
Het |
| Cfhr4 |
A |
G |
1: 139,661,143 (GRCm39) |
|
probably benign |
Het |
| Csad |
C |
A |
15: 102,094,872 (GRCm39) |
G63* |
probably null |
Het |
| H2bc8 |
G |
T |
13: 23,755,609 (GRCm39) |
M1I |
probably null |
Het |
| Hc |
G |
A |
2: 34,874,836 (GRCm39) |
A115V |
probably damaging |
Het |
| Hepacam2 |
T |
A |
6: 3,483,421 (GRCm39) |
H196L |
probably benign |
Het |
| Kcnh6 |
G |
A |
11: 105,911,533 (GRCm39) |
E640K |
probably damaging |
Het |
| Myo15b |
T |
C |
11: 115,777,109 (GRCm39) |
Y912H |
probably damaging |
Het |
| Plin4 |
G |
T |
17: 56,411,733 (GRCm39) |
T766K |
probably damaging |
Het |
| Ric8b |
A |
G |
10: 84,816,000 (GRCm39) |
D417G |
probably damaging |
Het |
| Rnf213 |
A |
C |
11: 119,371,733 (GRCm39) |
Q4846P |
possibly damaging |
Het |
| Slc15a2 |
T |
C |
16: 36,580,449 (GRCm39) |
Q320R |
possibly damaging |
Het |
| Slc35f3 |
A |
G |
8: 127,115,862 (GRCm39) |
E263G |
probably damaging |
Het |
| Slc5a4b |
A |
T |
10: 75,896,264 (GRCm39) |
W564R |
probably benign |
Het |
| Taf4 |
C |
T |
2: 179,562,977 (GRCm39) |
V965M |
probably benign |
Het |
| Trpc3 |
C |
T |
3: 36,705,669 (GRCm39) |
G509R |
probably null |
Het |
| Ttn |
T |
C |
2: 76,708,309 (GRCm39) |
|
probably benign |
Het |
| Znfx1 |
G |
T |
2: 166,897,643 (GRCm39) |
T427N |
probably damaging |
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 |
|
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 |
|
R6948:Mrgprx2
|
UTSW |
7 |
48,132,464 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation