Incidental Mutation 'R1014:Mrgprx2'
| ID |
96003 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrgprx2
|
| Ensembl Gene |
ENSMUSG00000074109 |
| Gene Name |
MAS-related GPR, member X2 |
| Synonyms |
Mrgprb10, MrgB10 |
| MMRRC Submission |
039118-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R1014 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
48128367-48149018 bp(-) (GRCm39) |
| Type of Mutation |
splice site (258 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 48132306 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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: C171R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000127022
Gene: ENSMUSG00000074109
AA Change: C171R
| 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 null
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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago4 |
T |
C |
4: 126,400,578 (GRCm39) |
R712G |
probably damaging |
Het |
| Arg1 |
C |
A |
10: 24,792,758 (GRCm39) |
V159L |
probably benign |
Het |
| Caap1 |
C |
T |
4: 94,437,383 (GRCm39) |
C193Y |
probably benign |
Het |
| Cdh12 |
A |
T |
15: 21,492,706 (GRCm39) |
M242L |
probably damaging |
Het |
| Col19a1 |
A |
T |
1: 24,340,354 (GRCm39) |
|
probably null |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,088,674 (GRCm39) |
T101A |
possibly damaging |
Het |
| Dll4 |
T |
C |
2: 119,161,638 (GRCm39) |
C407R |
probably damaging |
Het |
| Ebf4 |
T |
C |
2: 130,207,388 (GRCm39) |
S484P |
probably benign |
Het |
| Gm10300 |
A |
G |
4: 131,802,023 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
C |
13: 13,808,645 (GRCm39) |
I105T |
possibly damaging |
Het |
| Musk |
T |
C |
4: 58,354,156 (GRCm39) |
L403P |
possibly damaging |
Het |
| Myh11 |
T |
C |
16: 14,054,274 (GRCm39) |
K363R |
possibly damaging |
Het |
| Nadk2 |
T |
C |
15: 9,091,334 (GRCm39) |
F202L |
probably damaging |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Nup210l |
C |
T |
3: 90,077,355 (GRCm39) |
T897M |
possibly damaging |
Het |
| Or52h9 |
T |
C |
7: 104,202,383 (GRCm39) |
W86R |
probably damaging |
Het |
| Pcdh17 |
A |
G |
14: 84,684,928 (GRCm39) |
D465G |
probably damaging |
Het |
| Pcdhb11 |
T |
A |
18: 37,556,422 (GRCm39) |
L584Q |
probably damaging |
Het |
| Pcdhb5 |
T |
C |
18: 37,455,303 (GRCm39) |
L561P |
probably damaging |
Het |
| Pck2 |
A |
G |
14: 55,779,867 (GRCm39) |
S12G |
probably benign |
Het |
| Pcsk1 |
A |
G |
13: 75,280,353 (GRCm39) |
D726G |
probably damaging |
Het |
| Pcsk5 |
G |
T |
19: 17,542,194 (GRCm39) |
A799E |
probably damaging |
Het |
| Pkp3 |
A |
G |
7: 140,662,739 (GRCm39) |
Y117C |
probably benign |
Het |
| Poldip2 |
T |
A |
11: 78,405,988 (GRCm39) |
D106E |
probably damaging |
Het |
| Ppm1d |
C |
A |
11: 85,227,980 (GRCm39) |
H299N |
probably damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,000,643 (GRCm39) |
Y911C |
probably damaging |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Rtf1 |
T |
G |
2: 119,550,727 (GRCm39) |
S329A |
possibly damaging |
Het |
| Slc12a2 |
T |
C |
18: 58,054,882 (GRCm39) |
I841T |
probably benign |
Het |
| Slc2a3 |
T |
C |
6: 122,708,525 (GRCm39) |
I367V |
possibly damaging |
Het |
| Slc30a8 |
A |
G |
15: 52,194,993 (GRCm39) |
T251A |
probably damaging |
Het |
| Spryd3 |
T |
A |
15: 102,041,966 (GRCm39) |
N19Y |
probably damaging |
Het |
| Tll2 |
A |
T |
19: 41,092,290 (GRCm39) |
Y516N |
probably damaging |
Het |
| Tlr5 |
G |
A |
1: 182,803,242 (GRCm39) |
G849R |
probably benign |
Het |
| Wdr64 |
A |
G |
1: 175,583,192 (GRCm39) |
E376G |
probably damaging |
Het |
| Zfp318 |
GAA |
GAANAA |
17: 46,723,462 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGTCTTGCATGGCTCTCTGC -3'
(R):5'- TTGGGCTGGTTGGAAATGCCAC -3'
Sequencing Primer
(F):5'- CCGTTGAAATCGATGATGCC -3'
(R):5'- GTTGGAAATGCCACAGTGC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation