Incidental Mutation 'R2969:Mrgprb5'
| ID |
256059 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mrgprb5
|
| Ensembl Gene |
ENSMUSG00000070551 |
| Gene Name |
MAS-related GPR, member B5 |
| Synonyms |
MrgB5 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R2969 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
47817765-47818733 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 47818317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 139
(R139S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091953
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094389]
|
| AlphaFold |
Q91ZB9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094389
AA Change: R139S
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000091953
Gene: ENSMUSG00000070551
AA Change: R139S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
21 |
N/A |
INTRINSIC |
|
Pfam:7TM_GPCR_Srx
|
38 |
217 |
1.4e-8 |
PFAM |
|
Pfam:7tm_1
|
47 |
210 |
1.7e-7 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
A |
G |
10: 69,830,225 (GRCm39) |
T137A |
probably damaging |
Het |
| Antxr2 |
A |
T |
5: 98,178,275 (GRCm39) |
L45* |
probably null |
Het |
| Armc1 |
T |
C |
3: 19,189,024 (GRCm39) |
S214G |
probably benign |
Het |
| Arsj |
T |
C |
3: 126,233,021 (GRCm39) |
I589T |
probably benign |
Het |
| C8a |
A |
G |
4: 104,710,974 (GRCm39) |
S230P |
probably damaging |
Het |
| Cnga3 |
A |
G |
1: 37,300,159 (GRCm39) |
Y331C |
probably damaging |
Het |
| Gm21976 |
A |
G |
13: 98,423,790 (GRCm39) |
Y33C |
unknown |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Gtf2i |
A |
G |
5: 134,280,746 (GRCm39) |
V556A |
probably damaging |
Het |
| Ighv8-12 |
C |
T |
12: 115,611,570 (GRCm39) |
R118Q |
probably benign |
Het |
| Ing4 |
A |
G |
6: 125,024,288 (GRCm39) |
K131E |
probably benign |
Het |
| Nap1l2 |
A |
T |
X: 102,229,254 (GRCm39) |
D221E |
probably benign |
Het |
| Nepn |
A |
T |
10: 52,276,983 (GRCm39) |
R179* |
probably null |
Het |
| Nrxn3 |
G |
A |
12: 89,321,241 (GRCm39) |
C383Y |
probably damaging |
Het |
| Pfpl |
G |
T |
19: 12,406,907 (GRCm39) |
R386L |
probably benign |
Het |
| Rere |
A |
G |
4: 150,654,673 (GRCm39) |
K402E |
unknown |
Het |
| Serpina3n |
C |
T |
12: 104,375,333 (GRCm39) |
T135M |
probably benign |
Het |
| Slc43a1 |
C |
T |
2: 84,687,679 (GRCm39) |
T395I |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Vipas39 |
T |
C |
12: 87,289,345 (GRCm39) |
N373S |
probably benign |
Het |
| Vmn1r128 |
T |
A |
7: 21,084,046 (GRCm39) |
V250D |
probably damaging |
Het |
|
| Other mutations in Mrgprb5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01516:Mrgprb5
|
APN |
7 |
47,818,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01662:Mrgprb5
|
APN |
7 |
47,818,172 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01752:Mrgprb5
|
APN |
7 |
47,818,415 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02117:Mrgprb5
|
APN |
7 |
47,818,742 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02866:Mrgprb5
|
APN |
7 |
47,817,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03382:Mrgprb5
|
APN |
7 |
47,818,442 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0545:Mrgprb5
|
UTSW |
7 |
47,818,633 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1389:Mrgprb5
|
UTSW |
7 |
47,818,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1939:Mrgprb5
|
UTSW |
7 |
47,818,686 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2277:Mrgprb5
|
UTSW |
7 |
47,818,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2367:Mrgprb5
|
UTSW |
7 |
47,818,347 (GRCm39) |
nonsense |
probably null |
|
|
R2912:Mrgprb5
|
UTSW |
7 |
47,817,815 (GRCm39) |
missense |
probably benign |
|
|
R2968:Mrgprb5
|
UTSW |
7 |
47,818,317 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2970:Mrgprb5
|
UTSW |
7 |
47,818,317 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3499:Mrgprb5
|
UTSW |
7 |
47,818,661 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3828:Mrgprb5
|
UTSW |
7 |
47,817,839 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4590:Mrgprb5
|
UTSW |
7 |
47,817,809 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4719:Mrgprb5
|
UTSW |
7 |
47,818,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5263:Mrgprb5
|
UTSW |
7 |
47,817,937 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5264:Mrgprb5
|
UTSW |
7 |
47,817,796 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5644:Mrgprb5
|
UTSW |
7 |
47,817,955 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6485:Mrgprb5
|
UTSW |
7 |
47,818,525 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6713:Mrgprb5
|
UTSW |
7 |
47,818,537 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7112:Mrgprb5
|
UTSW |
7 |
47,818,655 (GRCm39) |
missense |
probably benign |
|
|
R7176:Mrgprb5
|
UTSW |
7 |
47,818,059 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7446:Mrgprb5
|
UTSW |
7 |
47,818,252 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7640:Mrgprb5
|
UTSW |
7 |
47,818,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7831:Mrgprb5
|
UTSW |
7 |
47,817,997 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9041:Mrgprb5
|
UTSW |
7 |
47,818,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9314:Mrgprb5
|
UTSW |
7 |
47,818,174 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATCATCTTGACCAACAGGGC -3'
(R):5'- GCTTGTGCTGATTTCTTGCAAC -3'
Sequencing Primer
(F):5'- TTGACCAACAGGGCCAGGC -3'
(R):5'- AACTTTGCACTCAGATTTTAGGTTCC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation