Incidental Mutation 'IGL01752:Mrgprb5'
| ID |
153400 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01752
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
47817765-47818733 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 47818415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 107
(F107L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091953
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094389]
|
| AlphaFold |
Q91ZB9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094389
AA Change: F107L
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000091953
Gene: ENSMUSG00000070551
AA Change: F107L
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
C |
A |
10: 85,490,366 (GRCm39) |
Q1011K |
probably damaging |
Het |
| Akap11 |
A |
T |
14: 78,747,318 (GRCm39) |
|
probably null |
Het |
| Cdh4 |
A |
T |
2: 179,532,677 (GRCm39) |
N713I |
probably damaging |
Het |
| Cdkl4 |
T |
A |
17: 80,851,043 (GRCm39) |
|
probably benign |
Het |
| Ddx21 |
A |
G |
10: 62,423,286 (GRCm39) |
S639P |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,902,512 (GRCm39) |
|
probably benign |
Het |
| Fan1 |
G |
A |
7: 64,022,542 (GRCm39) |
T237M |
probably benign |
Het |
| Fbn2 |
T |
A |
18: 58,209,049 (GRCm39) |
|
probably null |
Het |
| Fhad1 |
T |
C |
4: 141,700,210 (GRCm39) |
K347E |
possibly damaging |
Het |
| Gucy2c |
C |
A |
6: 136,747,106 (GRCm39) |
A118S |
probably benign |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Lox |
A |
G |
18: 52,653,926 (GRCm39) |
V390A |
possibly damaging |
Het |
| Lyn |
A |
T |
4: 3,743,286 (GRCm39) |
M69L |
probably benign |
Het |
| Neurod2 |
T |
C |
11: 98,218,201 (GRCm39) |
E321G |
possibly damaging |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Pcnx3 |
T |
A |
19: 5,715,365 (GRCm39) |
K1962* |
probably null |
Het |
| Pde3a |
T |
C |
6: 141,433,339 (GRCm39) |
|
probably benign |
Het |
| Phf10 |
A |
G |
17: 15,175,212 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,101,267 (GRCm39) |
E2257G |
possibly damaging |
Het |
| Rock1 |
A |
G |
18: 10,079,113 (GRCm39) |
|
probably null |
Het |
| Slc4a11 |
T |
G |
2: 130,530,065 (GRCm39) |
T238P |
probably damaging |
Het |
| Ssu2 |
T |
A |
6: 112,352,553 (GRCm39) |
K279N |
probably damaging |
Het |
| Tead3 |
A |
T |
17: 28,552,568 (GRCm39) |
I275N |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,575,137 (GRCm39) |
E25252G |
probably damaging |
Het |
| Twsg1 |
T |
C |
17: 66,236,779 (GRCm39) |
T84A |
probably benign |
Het |
| Ugt3a1 |
A |
T |
15: 9,306,232 (GRCm39) |
K127M |
probably damaging |
Het |
| Unc13c |
A |
T |
9: 73,839,093 (GRCm39) |
M586K |
probably benign |
Het |
| Vmn1r195 |
G |
T |
13: 22,463,421 (GRCm39) |
C297F |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,855,510 (GRCm39) |
I2525N |
probably damaging |
Het |
| Zdhhc2 |
G |
A |
8: 40,926,042 (GRCm39) |
A346T |
probably benign |
Het |
| Zfp52 |
T |
G |
17: 21,780,412 (GRCm39) |
C87G |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation