Incidental Mutation 'R2968:Mrgprb5'
ID |
263315 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mrgprb5
|
Ensembl Gene |
ENSMUSG00000070551 |
Gene Name |
MAS-related GPR, member B5 |
Synonyms |
MrgB5 |
MMRRC Submission |
040524-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R2968 (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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
T |
A |
5: 8,911,485 (GRCm39) |
I1113N |
probably damaging |
Het |
Arhgap12 |
A |
T |
18: 6,111,732 (GRCm39) |
S211T |
probably damaging |
Het |
Celsr3 |
G |
T |
9: 108,709,390 (GRCm39) |
C1412F |
probably damaging |
Het |
Cnga3 |
A |
G |
1: 37,300,159 (GRCm39) |
Y331C |
probably damaging |
Het |
Cntln |
T |
A |
4: 84,875,504 (GRCm39) |
S313T |
probably benign |
Het |
Ddx54 |
T |
A |
5: 120,756,694 (GRCm39) |
D134E |
probably damaging |
Het |
Dennd4c |
A |
G |
4: 86,699,881 (GRCm39) |
D244G |
possibly damaging |
Het |
Dsg3 |
A |
T |
18: 20,658,282 (GRCm39) |
T298S |
possibly damaging |
Het |
Dusp1 |
A |
T |
17: 26,726,679 (GRCm39) |
F128I |
probably damaging |
Het |
Fam83g |
T |
A |
11: 61,594,304 (GRCm39) |
S613T |
probably damaging |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
Grep1 |
A |
G |
17: 23,934,785 (GRCm39) |
F149S |
possibly damaging |
Het |
Ighv8-12 |
C |
T |
12: 115,611,570 (GRCm39) |
R118Q |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Or51b6 |
T |
C |
7: 103,556,519 (GRCm39) |
V291A |
probably benign |
Het |
Pcbp1 |
C |
T |
6: 86,502,471 (GRCm39) |
E143K |
probably damaging |
Het |
Plxna1 |
A |
G |
6: 89,319,590 (GRCm39) |
S572P |
probably damaging |
Het |
Serpina3n |
C |
T |
12: 104,375,333 (GRCm39) |
T135M |
probably benign |
Het |
Spink11 |
A |
T |
18: 44,328,777 (GRCm39) |
F24I |
possibly damaging |
Het |
Tes |
A |
G |
6: 17,096,233 (GRCm39) |
T74A |
probably benign |
Het |
Vipas39 |
T |
C |
12: 87,289,345 (GRCm39) |
N373S |
probably benign |
Het |
Wdr75 |
A |
G |
1: 45,856,501 (GRCm39) |
D508G |
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 |
|
R2969: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'- TCATCTTGACCAACAGGGC -3'
(R):5'- GCTTGTGCTGATTTCTTGCAAC -3'
Sequencing Primer
(F):5'- TTGACCAACAGGGCCAGGC -3'
(R):5'- AACTTTGCACTCAGATTTTAGGTTCC -3'
|
Posted On |
2015-02-05 |