Incidental Mutation 'R6718:Mrgpra3'
| ID |
529460 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrgpra3
|
| Ensembl Gene |
ENSMUSG00000078698 |
| Gene Name |
MAS-related GPR, member A3 |
| Synonyms |
G protein-coupled receptor, MrgA3 |
| MMRRC Submission |
044836-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R6718 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
47238698-47251120 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 47239444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 161
(V161M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135437
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176369]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176369
AA Change: V161M
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000135437
Gene: ENSMUSG00000078698
AA Change: V161M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
31 |
N/A |
INTRINSIC |
|
Pfam:7TM_GPCR_Srx
|
48 |
234 |
6.3e-7 |
PFAM |
|
Pfam:7tm_1
|
57 |
286 |
2.7e-9 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l2 |
G |
A |
18: 67,554,346 (GRCm39) |
T452I |
probably damaging |
Het |
| Asb8 |
A |
G |
15: 98,034,015 (GRCm39) |
I180T |
probably benign |
Het |
| Cdh18 |
A |
G |
15: 23,226,835 (GRCm39) |
T45A |
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,606,887 (GRCm39) |
Y512F |
probably damaging |
Het |
| Col6a1 |
A |
G |
10: 76,560,884 (GRCm39) |
F38S |
probably damaging |
Het |
| Hoxc5 |
A |
G |
15: 102,922,698 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
TATGCTGCTG |
TATGCTGCTGATGCTGCTG |
15: 98,747,467 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
C |
T |
15: 98,748,420 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
G |
T |
2: 69,314,124 (GRCm39) |
H2202Q |
probably benign |
Het |
| Maf |
C |
A |
8: 116,433,539 (GRCm39) |
V22F |
unknown |
Het |
| Or7g33 |
G |
T |
9: 19,448,495 (GRCm39) |
H244N |
probably damaging |
Het |
| Otx1 |
T |
C |
11: 21,946,412 (GRCm39) |
|
probably benign |
Het |
| Parvb |
C |
T |
15: 84,182,180 (GRCm39) |
R237W |
probably damaging |
Het |
| Pex11a |
A |
G |
7: 79,387,230 (GRCm39) |
F201L |
probably benign |
Het |
| Pigu |
A |
G |
2: 155,143,206 (GRCm39) |
Y232H |
possibly damaging |
Het |
| Pms2 |
T |
C |
5: 143,860,307 (GRCm39) |
I40T |
probably damaging |
Het |
| Pura |
A |
G |
18: 36,420,696 (GRCm39) |
N161S |
probably damaging |
Het |
| Ranbp10 |
A |
G |
8: 106,501,260 (GRCm39) |
V330A |
possibly damaging |
Het |
| Slc30a9 |
T |
C |
5: 67,490,443 (GRCm39) |
V218A |
probably damaging |
Het |
| Spindoc |
C |
T |
19: 7,335,781 (GRCm39) |
V336I |
probably damaging |
Het |
| Tmprss9 |
A |
G |
10: 80,726,198 (GRCm39) |
T483A |
probably benign |
Het |
|
| Other mutations in Mrgpra3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Mrgpra3
|
APN |
7 |
47,239,267 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02097:Mrgpra3
|
APN |
7 |
47,239,204 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02101:Mrgpra3
|
APN |
7 |
47,239,300 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03071:Mrgpra3
|
APN |
7 |
47,238,929 (GRCm39) |
utr 3 prime |
probably benign |
|
|
PIT4445001:Mrgpra3
|
UTSW |
7 |
47,239,908 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0828:Mrgpra3
|
UTSW |
7 |
47,239,884 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1118:Mrgpra3
|
UTSW |
7 |
47,239,039 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1835:Mrgpra3
|
UTSW |
7 |
47,239,694 (GRCm39) |
nonsense |
probably null |
|
|
R2258:Mrgpra3
|
UTSW |
7 |
47,239,842 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2393:Mrgpra3
|
UTSW |
7 |
47,239,365 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3437:Mrgpra3
|
UTSW |
7 |
47,239,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3973:Mrgpra3
|
UTSW |
7 |
47,239,414 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4273:Mrgpra3
|
UTSW |
7 |
47,239,180 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4495:Mrgpra3
|
UTSW |
7 |
47,239,813 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4768:Mrgpra3
|
UTSW |
7 |
47,239,476 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4822:Mrgpra3
|
UTSW |
7 |
47,239,716 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4967:Mrgpra3
|
UTSW |
7 |
47,239,267 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5207:Mrgpra3
|
UTSW |
7 |
47,239,909 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5569:Mrgpra3
|
UTSW |
7 |
47,239,759 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5763:Mrgpra3
|
UTSW |
7 |
47,239,355 (GRCm39) |
nonsense |
probably null |
|
|
R6102:Mrgpra3
|
UTSW |
7 |
47,239,897 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6612:Mrgpra3
|
UTSW |
7 |
47,239,783 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6859:Mrgpra3
|
UTSW |
7 |
47,239,781 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7029:Mrgpra3
|
UTSW |
7 |
47,239,290 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7034:Mrgpra3
|
UTSW |
7 |
47,239,838 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7036:Mrgpra3
|
UTSW |
7 |
47,239,838 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7097:Mrgpra3
|
UTSW |
7 |
47,239,389 (GRCm39) |
missense |
probably benign |
|
|
R7475:Mrgpra3
|
UTSW |
7 |
47,239,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8289:Mrgpra3
|
UTSW |
7 |
47,239,468 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8315:Mrgpra3
|
UTSW |
7 |
47,251,051 (GRCm39) |
start codon destroyed |
probably null |
0.93 |
|
R9500:Mrgpra3
|
UTSW |
7 |
47,239,400 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Mrgpra3
|
UTSW |
7 |
47,251,049 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACGGTCAGCATGATGGTCAC -3'
(R):5'- TCTCAAGTTTACCCTACCCAAAGG -3'
Sequencing Primer
(F):5'- GTCAGCATGATGGTCACGAATAATC -3'
(R):5'- TACCCTACCCAAAGGAATTTTTGC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation