Incidental Mutation 'IGL01801:Mrgpra6'
| ID |
155507 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mrgpra6
|
| Ensembl Gene |
ENSMUSG00000052303 |
| Gene Name |
MAS-related GPR, member A6 |
| Synonyms |
MrgA6 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
IGL01801
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
46835465-46839164 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46835572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 283
(D283G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073793]
[ENSMUST00000186456]
|
| AlphaFold |
Q91ZC6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073793
AA Change: D283G
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000073463
Gene: ENSMUSG00000052303
AA Change: D283G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
17 |
198 |
5.9e-8 |
PFAM |
|
Pfam:7tm_1
|
26 |
258 |
5.2e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186456
|
| SMART Domains |
Protein: ENSMUSP00000140353
Gene: ENSMUSG00000052303
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
26 |
N/A |
INTRINSIC |
|
Pfam:7TM_GPCR_Srx
|
48 |
228 |
1.1e-5 |
PFAM |
|
Pfam:7tm_1
|
57 |
270 |
1e-15 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932415M13Rik |
C |
T |
17: 54,031,870 (GRCm39) |
|
noncoding transcript |
Het |
| Acsm4 |
C |
T |
7: 119,306,486 (GRCm39) |
T308I |
possibly damaging |
Het |
| Adamtsl1 |
A |
G |
4: 86,117,559 (GRCm39) |
N174S |
probably benign |
Het |
| Atp1b1 |
C |
T |
1: 164,265,918 (GRCm39) |
G281D |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,347,086 (GRCm39) |
N1027S |
probably null |
Het |
| Cacnb4 |
A |
T |
2: 52,324,723 (GRCm39) |
N446K |
probably benign |
Het |
| Cfap210 |
A |
T |
2: 69,606,623 (GRCm39) |
|
probably benign |
Het |
| Col13a1 |
T |
C |
10: 61,679,393 (GRCm39) |
D215G |
probably damaging |
Het |
| Cyp2d22 |
T |
C |
15: 82,257,046 (GRCm39) |
T312A |
probably benign |
Het |
| Cyp4f40 |
A |
T |
17: 32,895,279 (GRCm39) |
N467I |
probably damaging |
Het |
| Dnaaf10 |
T |
C |
11: 17,169,015 (GRCm39) |
I62T |
probably benign |
Het |
| Ehd4 |
A |
T |
2: 119,932,822 (GRCm39) |
D201E |
probably damaging |
Het |
| Farsb |
T |
C |
1: 78,435,216 (GRCm39) |
T444A |
probably benign |
Het |
| Gabra6 |
A |
C |
11: 42,205,935 (GRCm39) |
I307R |
probably damaging |
Het |
| Impg2 |
G |
A |
16: 56,057,111 (GRCm39) |
R287H |
probably damaging |
Het |
| Khdrbs1 |
A |
G |
4: 129,635,574 (GRCm39) |
V127A |
probably benign |
Het |
| Lcp1 |
A |
T |
14: 75,436,815 (GRCm39) |
T54S |
probably benign |
Het |
| Mterf4 |
T |
C |
1: 93,232,642 (GRCm39) |
R70G |
probably benign |
Het |
| Mtmr12 |
T |
C |
15: 12,270,045 (GRCm39) |
L711P |
probably damaging |
Het |
| Or4n4 |
A |
G |
14: 50,519,665 (GRCm39) |
I15T |
probably benign |
Het |
| Pax8 |
A |
G |
2: 24,334,576 (GRCm39) |
|
probably null |
Het |
| Prmt9 |
T |
C |
8: 78,289,069 (GRCm39) |
V257A |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,434,072 (GRCm39) |
V959A |
probably damaging |
Het |
| Vps54 |
T |
C |
11: 21,225,131 (GRCm39) |
|
probably null |
Het |
| Wdr70 |
C |
T |
15: 7,916,805 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Mrgpra6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01645:Mrgpra6
|
APN |
7 |
46,835,681 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01780:Mrgpra6
|
APN |
7 |
46,838,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02158:Mrgpra6
|
APN |
7 |
46,835,700 (GRCm39) |
nonsense |
probably null |
|
|
IGL02715:Mrgpra6
|
APN |
7 |
46,838,396 (GRCm39) |
splice site |
probably benign |
|
|
IGL02896:Mrgpra6
|
APN |
7 |
46,838,655 (GRCm39) |
missense |
probably benign |
0.02 |
|
D4216:Mrgpra6
|
UTSW |
7 |
46,838,504 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1566:Mrgpra6
|
UTSW |
7 |
46,838,652 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4016:Mrgpra6
|
UTSW |
7 |
46,838,463 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5051:Mrgpra6
|
UTSW |
7 |
46,835,690 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5384:Mrgpra6
|
UTSW |
7 |
46,838,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5386:Mrgpra6
|
UTSW |
7 |
46,838,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5638:Mrgpra6
|
UTSW |
7 |
46,835,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5860:Mrgpra6
|
UTSW |
7 |
46,839,099 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6633:Mrgpra6
|
UTSW |
7 |
46,838,493 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6952:Mrgpra6
|
UTSW |
7 |
46,835,693 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6980:Mrgpra6
|
UTSW |
7 |
46,838,697 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9455:Mrgpra6
|
UTSW |
7 |
46,838,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9615:Mrgpra6
|
UTSW |
7 |
46,835,675 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9701:Mrgpra6
|
UTSW |
7 |
46,835,533 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9802:Mrgpra6
|
UTSW |
7 |
46,835,533 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Mrgpra6
|
UTSW |
7 |
46,838,910 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Posted On |
2014-02-04 |
Incidental Mutation