Incidental Mutation 'R5263:Mrgprb5'
ID |
401551 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mrgprb5
|
Ensembl Gene |
ENSMUSG00000070551 |
Gene Name |
MAS-related GPR, member B5 |
Synonyms |
MrgB5 |
MMRRC Submission |
042831-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
R5263 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
47817765-47818733 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 47817937 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 266
(V266A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091953
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094389]
|
AlphaFold |
Q91ZB9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094389
AA Change: V266A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000091953 Gene: ENSMUSG00000070551 AA Change: V266A
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: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adh4 |
G |
T |
3: 138,133,816 (GRCm39) |
V309L |
probably benign |
Het |
Agmo |
T |
C |
12: 37,407,680 (GRCm39) |
V188A |
probably benign |
Het |
Aqr |
A |
G |
2: 113,947,059 (GRCm39) |
M1041T |
probably damaging |
Het |
Arhgef4 |
T |
A |
1: 34,764,078 (GRCm39) |
S1111R |
possibly damaging |
Het |
Ascc3 |
A |
C |
10: 50,592,757 (GRCm39) |
E1144D |
probably benign |
Het |
Cct3 |
T |
C |
3: 88,228,672 (GRCm39) |
|
probably null |
Het |
Cd209f |
T |
C |
8: 4,154,506 (GRCm39) |
T114A |
probably benign |
Het |
Cgnl1 |
G |
A |
9: 71,539,936 (GRCm39) |
Q1103* |
probably null |
Het |
Cop1 |
G |
A |
1: 159,152,507 (GRCm39) |
D586N |
probably damaging |
Het |
Dcaf5 |
A |
G |
12: 80,395,120 (GRCm39) |
S350P |
probably damaging |
Het |
Dhx29 |
T |
C |
13: 113,084,755 (GRCm39) |
C658R |
probably damaging |
Het |
Dync1i1 |
G |
A |
6: 5,969,446 (GRCm39) |
V424I |
possibly damaging |
Het |
Gfap |
C |
T |
11: 102,787,756 (GRCm39) |
R63Q |
probably damaging |
Het |
Gm10563 |
CTTT |
CTTTATTT |
4: 155,698,940 (GRCm39) |
|
probably null |
Het |
Gprc6a |
C |
A |
10: 51,502,900 (GRCm39) |
G321V |
probably damaging |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Izumo1r |
A |
G |
9: 14,812,976 (GRCm39) |
C99R |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 41,850,691 (GRCm39) |
D102G |
probably damaging |
Het |
Mettl4 |
G |
A |
17: 95,047,937 (GRCm39) |
Q235* |
probably null |
Het |
Mmrn2 |
A |
G |
14: 34,121,541 (GRCm39) |
T804A |
probably benign |
Het |
Ntng1 |
T |
C |
3: 109,842,188 (GRCm39) |
D195G |
probably damaging |
Het |
Pld4 |
T |
C |
12: 112,731,465 (GRCm39) |
L206P |
probably damaging |
Het |
Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
Prkd1 |
A |
G |
12: 50,435,089 (GRCm39) |
L546P |
probably damaging |
Het |
Rhob |
A |
T |
12: 8,549,232 (GRCm39) |
M134K |
probably benign |
Het |
Ryr3 |
A |
G |
2: 112,548,347 (GRCm39) |
S3087P |
possibly damaging |
Het |
Sema6c |
T |
C |
3: 95,080,463 (GRCm39) |
L887P |
probably benign |
Het |
Sltm |
T |
C |
9: 70,492,081 (GRCm39) |
S648P |
unknown |
Het |
Sucnr1 |
A |
G |
3: 59,994,190 (GRCm39) |
I239M |
possibly damaging |
Het |
Tgtp2 |
T |
A |
11: 48,950,090 (GRCm39) |
M161L |
probably damaging |
Het |
Trpm7 |
A |
G |
2: 126,663,137 (GRCm39) |
V1037A |
probably benign |
Het |
Vmn2r13 |
A |
T |
5: 109,321,841 (GRCm39) |
H285Q |
probably benign |
Het |
Zfp971 |
T |
A |
2: 177,675,555 (GRCm39) |
C385S |
probably damaging |
Het |
Zfpm2 |
T |
A |
15: 40,962,791 (GRCm39) |
V283E |
probably benign |
Het |
Zranb1 |
CTGATGATGATG |
CTGATGATGATGATG |
7: 132,584,556 (GRCm39) |
|
probably benign |
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 |
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 |
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'- TGTCTGATCAAAGACTCACTCAAC -3'
(R):5'- GCCCTGTTGGTCAAGATGATC -3'
Sequencing Primer
(F):5'- TGATCAAAGACTCACTCAACTACTG -3'
(R):5'- TGGTCAAGATGATCTGTGGATC -3'
|
Posted On |
2016-07-06 |