Incidental Mutation 'R4521:Mrgpra9'
| ID |
334221 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrgpra9
|
| Ensembl Gene |
ENSMUSG00000074111 |
| Gene Name |
MAS-related GPR, member A9 |
| Synonyms |
MrgA9, EG668725 |
| MMRRC Submission |
041764-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R4521 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
46884667-46902627 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 46884938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 243
(L243H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136396
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098436]
[ENSMUST00000179005]
|
| AlphaFold |
A0A140T8U8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098436
AA Change: L242H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096035
Gene: ENSMUSG00000074111
AA Change: L242H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
48 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
56 |
225 |
1.5e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179005
AA Change: L243H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136396
Gene: ENSMUSG00000074111
AA Change: L243H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
12 |
178 |
3.4e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ascc3 |
A |
G |
10: 50,536,766 (GRCm39) |
N700D |
probably benign |
Het |
| Bora |
G |
T |
14: 99,305,984 (GRCm39) |
S451I |
probably damaging |
Het |
| Cadm3 |
A |
T |
1: 173,172,630 (GRCm39) |
|
probably null |
Het |
| Car14 |
A |
G |
3: 95,811,690 (GRCm39) |
|
probably benign |
Het |
| Ccdc88c |
G |
T |
12: 100,879,591 (GRCm39) |
S1843R |
possibly damaging |
Het |
| Cdc20b |
A |
G |
13: 113,217,725 (GRCm39) |
I381M |
probably damaging |
Het |
| Col12a1 |
C |
T |
9: 79,540,639 (GRCm39) |
V2449I |
probably benign |
Het |
| Crb2 |
T |
C |
2: 37,685,349 (GRCm39) |
|
probably benign |
Het |
| Dcaf6 |
A |
T |
1: 165,218,059 (GRCm39) |
D347E |
probably damaging |
Het |
| Dlgap2 |
G |
A |
8: 14,777,871 (GRCm39) |
R372H |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,834,238 (GRCm39) |
N4118S |
probably null |
Het |
| Fbxo41 |
A |
G |
6: 85,461,024 (GRCm39) |
I228T |
probably damaging |
Het |
| Fpr2 |
A |
C |
17: 18,113,509 (GRCm39) |
R168S |
probably benign |
Het |
| Ghr |
A |
G |
15: 3,355,440 (GRCm39) |
I281T |
probably damaging |
Het |
| Glmp |
C |
A |
3: 88,235,346 (GRCm39) |
N259K |
possibly damaging |
Het |
| Grhl3 |
T |
C |
4: 135,273,561 (GRCm39) |
K564E |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,870,626 (GRCm39) |
H2875R |
probably benign |
Het |
| Lcp1 |
A |
G |
14: 75,452,608 (GRCm39) |
D438G |
possibly damaging |
Het |
| Lrfn2 |
T |
A |
17: 49,376,922 (GRCm39) |
M1K |
probably null |
Het |
| Lrp6 |
A |
G |
6: 134,462,825 (GRCm39) |
C612R |
probably damaging |
Het |
| Map3k13 |
T |
C |
16: 21,724,525 (GRCm39) |
V341A |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,042,126 (GRCm39) |
C1315S |
probably benign |
Het |
| Mrgprx1 |
T |
C |
7: 47,671,447 (GRCm39) |
D100G |
probably benign |
Het |
| Nop2 |
G |
T |
6: 125,110,515 (GRCm39) |
R47L |
probably damaging |
Het |
| Nup93 |
T |
C |
8: 95,041,264 (GRCm39) |
Y801H |
probably damaging |
Het |
| Or51b6b |
C |
T |
7: 103,309,539 (GRCm39) |
R306H |
probably benign |
Het |
| Or6c69b |
T |
A |
10: 129,627,050 (GRCm39) |
N136I |
possibly damaging |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,512,763 (GRCm39) |
S21P |
possibly damaging |
Het |
| Plpp2 |
A |
G |
10: 79,366,459 (GRCm39) |
Y118H |
probably damaging |
Het |
| Ppwd1 |
A |
G |
13: 104,346,167 (GRCm39) |
V496A |
probably benign |
Het |
| Rbm20 |
A |
G |
19: 53,805,633 (GRCm39) |
N466S |
probably benign |
Het |
| Rpl10l |
T |
C |
12: 66,330,512 (GRCm39) |
D207G |
probably benign |
Het |
| Skida1 |
T |
C |
2: 18,050,683 (GRCm39) |
|
probably benign |
Het |
| Stk17b |
A |
G |
1: 53,803,197 (GRCm39) |
Y73H |
probably damaging |
Het |
| Tapbpl |
A |
G |
6: 125,205,085 (GRCm39) |
I287T |
probably damaging |
Het |
| Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
| Topbp1 |
T |
C |
9: 103,211,401 (GRCm39) |
|
probably benign |
Het |
| Tsen54 |
G |
A |
11: 115,707,932 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
A |
2: 76,555,560 (GRCm39) |
R28736* |
probably null |
Het |
| Wdr36 |
G |
A |
18: 32,974,201 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Mrgpra9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00095:Mrgpra9
|
APN |
7 |
46,884,839 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL00575:Mrgpra9
|
APN |
7 |
46,885,053 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL01649:Mrgpra9
|
APN |
7 |
46,884,900 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL03207:Mrgpra9
|
APN |
7 |
46,885,385 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0388:Mrgpra9
|
UTSW |
7 |
46,902,542 (GRCm39) |
start codon destroyed |
probably null |
0.08 |
|
R0972:Mrgpra9
|
UTSW |
7 |
46,885,203 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1270:Mrgpra9
|
UTSW |
7 |
46,902,531 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1381:Mrgpra9
|
UTSW |
7 |
46,885,050 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1403:Mrgpra9
|
UTSW |
7 |
46,885,386 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1403:Mrgpra9
|
UTSW |
7 |
46,885,386 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1448:Mrgpra9
|
UTSW |
7 |
46,885,561 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2045:Mrgpra9
|
UTSW |
7 |
46,885,583 (GRCm39) |
missense |
probably benign |
|
|
R2144:Mrgpra9
|
UTSW |
7 |
46,885,211 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2187:Mrgpra9
|
UTSW |
7 |
46,884,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2507:Mrgpra9
|
UTSW |
7 |
46,885,242 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2913:Mrgpra9
|
UTSW |
7 |
46,884,828 (GRCm39) |
missense |
probably benign |
|
|
R3810:Mrgpra9
|
UTSW |
7 |
46,885,527 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4177:Mrgpra9
|
UTSW |
7 |
46,885,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4781:Mrgpra9
|
UTSW |
7 |
46,884,795 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4926:Mrgpra9
|
UTSW |
7 |
46,884,759 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6469:Mrgpra9
|
UTSW |
7 |
46,884,854 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6505:Mrgpra9
|
UTSW |
7 |
46,884,884 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6724:Mrgpra9
|
UTSW |
7 |
46,884,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7398:Mrgpra9
|
UTSW |
7 |
46,885,385 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8737:Mrgpra9
|
UTSW |
7 |
46,885,624 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8824:Mrgpra9
|
UTSW |
7 |
46,885,041 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8881:Mrgpra9
|
UTSW |
7 |
46,885,242 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9320:Mrgpra9
|
UTSW |
7 |
46,885,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTGGTGCTTCAACCGATG -3'
(R):5'- TGCATTCTGAATAGGTATTTCTGCG -3'
Sequencing Primer
(F):5'- GCTTCAACCGATGCCTGAATGAG -3'
(R):5'- CTGCGGTTTCTTAGATACCAAATATG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation