Incidental Mutation 'R4238:Mrgprx2'
| ID |
321214 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrgprx2
|
| Ensembl Gene |
ENSMUSG00000074109 |
| Gene Name |
MAS-related GPR, member X2 |
| Synonyms |
Mrgprb10, MrgB10 |
| MMRRC Submission |
041055-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R4238 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
48128367-48149018 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 48132738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 27
(V27L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098433]
[ENSMUST00000186394]
|
| AlphaFold |
Q3UG50 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098433
AA Change: V27L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127022
Gene: ENSMUSG00000074109
AA Change: V27L
| 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 |
0.0780 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
C |
T |
13: 119,603,478 (GRCm39) |
P93S |
probably benign |
Het |
| 4930563M21Rik |
T |
C |
9: 55,888,126 (GRCm39) |
D397G |
probably benign |
Het |
| Aar2 |
A |
G |
2: 156,393,064 (GRCm39) |
E151G |
possibly damaging |
Het |
| Cacna2d4 |
A |
G |
6: 119,217,669 (GRCm39) |
D125G |
probably null |
Het |
| Cdc20 |
C |
T |
4: 118,290,257 (GRCm39) |
R468Q |
probably damaging |
Het |
| Cers3 |
T |
C |
7: 66,423,424 (GRCm39) |
F87S |
probably damaging |
Het |
| Cfap74 |
C |
A |
4: 155,547,529 (GRCm39) |
H1238Q |
probably benign |
Het |
| Cndp1 |
G |
T |
18: 84,636,342 (GRCm39) |
H391N |
probably benign |
Het |
| Cpz |
T |
C |
5: 35,659,818 (GRCm39) |
D609G |
probably benign |
Het |
| Dpp8 |
A |
G |
9: 64,962,205 (GRCm39) |
D415G |
probably benign |
Het |
| Erbb2 |
A |
G |
11: 98,318,869 (GRCm39) |
K549R |
probably benign |
Het |
| Fam186a |
T |
C |
15: 99,841,523 (GRCm39) |
I1574V |
probably benign |
Het |
| Gm6871 |
G |
T |
7: 41,195,204 (GRCm39) |
T511K |
probably damaging |
Het |
| Gpr158 |
G |
T |
2: 21,373,362 (GRCm39) |
C99F |
probably damaging |
Het |
| Gtf2h1 |
C |
T |
7: 46,454,489 (GRCm39) |
A157V |
probably benign |
Het |
| Hexb |
T |
C |
13: 97,313,259 (GRCm39) |
|
probably benign |
Het |
| Ighv3-4 |
A |
T |
12: 114,217,533 (GRCm39) |
D19E |
probably benign |
Het |
| Igkv12-44 |
A |
G |
6: 69,791,868 (GRCm39) |
S32P |
probably benign |
Het |
| Klk6 |
A |
G |
7: 43,478,597 (GRCm39) |
H168R |
probably benign |
Het |
| Lin54 |
G |
A |
5: 100,623,603 (GRCm39) |
S78L |
possibly damaging |
Het |
| Lzts1 |
G |
T |
8: 69,588,579 (GRCm39) |
A459E |
possibly damaging |
Het |
| Mlf1 |
G |
A |
3: 67,291,910 (GRCm39) |
S25N |
probably benign |
Het |
| Myof |
T |
A |
19: 37,911,456 (GRCm39) |
R1505* |
probably null |
Het |
| Or4k15 |
T |
C |
14: 50,364,889 (GRCm39) |
V285A |
probably benign |
Het |
| Otud7a |
A |
G |
7: 63,300,702 (GRCm39) |
D47G |
probably damaging |
Het |
| Phactr1 |
T |
A |
13: 43,248,363 (GRCm39) |
N437K |
possibly damaging |
Het |
| Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
| Prc1 |
G |
A |
7: 79,960,964 (GRCm39) |
|
probably benign |
Het |
| Psg20 |
A |
T |
7: 18,418,434 (GRCm39) |
V111D |
probably damaging |
Het |
| Scamp3 |
G |
A |
3: 89,089,234 (GRCm39) |
|
probably null |
Het |
| Simc1 |
C |
G |
13: 54,674,073 (GRCm39) |
S807* |
probably null |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| Snrpa |
A |
T |
7: 26,892,293 (GRCm39) |
|
probably null |
Het |
| Sval2 |
T |
A |
6: 41,837,283 (GRCm39) |
L4H |
probably damaging |
Het |
| Tax1bp1 |
C |
T |
6: 52,743,036 (GRCm39) |
Q808* |
probably null |
Het |
| Tnfrsf11a |
T |
C |
1: 105,754,962 (GRCm39) |
Y345H |
probably damaging |
Het |
| Trpa1 |
A |
G |
1: 14,954,340 (GRCm39) |
L853P |
probably damaging |
Het |
| Trpm3 |
A |
G |
19: 22,956,002 (GRCm39) |
R1155G |
probably damaging |
Het |
| Ube4a |
T |
C |
9: 44,851,297 (GRCm39) |
E739G |
probably damaging |
Het |
| Zfp433 |
A |
C |
10: 81,556,046 (GRCm39) |
T182P |
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 |
|
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 |
|
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'- ATGGGGATGGAATCAATGTCC -3'
(R):5'- CACCCTGTTTCACCATTTTAAGAAC -3'
Sequencing Primer
(F):5'- GGAATCAATGTCCAAGATCATGTG -3'
(R):5'- CACCATTTTAAGAACTAGGTAAACCG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation