Incidental Mutation 'R8468:Gpr85'
| ID |
656909 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr85
|
| Ensembl Gene |
ENSMUSG00000048216 |
| Gene Name |
G protein-coupled receptor 85 |
| Synonyms |
2900026B03Rik |
| MMRRC Submission |
067912-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
R8468 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
13834457-13839941 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 13836295 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 203
(L203H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111155
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060442]
[ENSMUST00000115491]
[ENSMUST00000115492]
|
| AlphaFold |
P60894 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060442
AA Change: L203H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000053837
Gene: ENSMUSG00000048216
AA Change: L203H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
37 |
338 |
4.1e-38 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115491
AA Change: L203H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111154
Gene: ENSMUSG00000048216
AA Change: L203H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
37 |
338 |
4.1e-38 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115492
AA Change: L203H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111155
Gene: ENSMUSG00000048216
AA Change: L203H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
37 |
338 |
1.6e-32 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the G protein-coupled receptor (GPCR) family, such as GPR85, have a similar structure characterized by 7 transmembrane domains. Activation of GPCRs by extracellular stimuli, such as neurotransmitters, hormones, or light, induces an intracellular signaling cascade mediated by heterotrimeric GTP-binding proteins, or G proteins (Matsumoto et al., 2000 [PubMed 10833454]).[supplied by OMIM, Aug 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display a significant increase in brain weight and enhanced contextual memory in a fear-conditioning task but no additional behavioral abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
A |
G |
16: 85,592,444 (GRCm39) |
W655R |
possibly damaging |
Het |
| Adamts3 |
C |
T |
5: 89,842,627 (GRCm39) |
A748T |
probably benign |
Het |
| Ano1 |
A |
C |
7: 144,209,357 (GRCm39) |
F248C |
probably damaging |
Het |
| Ap2b1 |
T |
A |
11: 83,241,891 (GRCm39) |
L628Q |
probably damaging |
Het |
| BC035947 |
C |
A |
1: 78,474,967 (GRCm39) |
A522S |
probably damaging |
Het |
| Bdp1 |
A |
G |
13: 100,197,076 (GRCm39) |
V1103A |
probably benign |
Het |
| Cd248 |
T |
A |
19: 5,119,910 (GRCm39) |
I586N |
possibly damaging |
Het |
| Dnah9 |
C |
A |
11: 65,722,556 (GRCm39) |
M4428I |
probably benign |
Het |
| Epha5 |
T |
C |
5: 84,290,275 (GRCm39) |
|
probably null |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fastkd2 |
T |
A |
1: 63,770,923 (GRCm39) |
L93Q |
probably benign |
Het |
| Gm6665 |
T |
C |
18: 31,953,453 (GRCm39) |
D5G |
possibly damaging |
Het |
| Gphn |
T |
C |
12: 78,273,601 (GRCm39) |
V17A |
probably benign |
Het |
| Grk6 |
A |
G |
13: 55,599,198 (GRCm39) |
Y166C |
probably damaging |
Het |
| Ints3 |
A |
G |
3: 90,313,560 (GRCm39) |
V356A |
probably damaging |
Het |
| Krt33b |
G |
A |
11: 99,920,615 (GRCm39) |
R13C |
probably damaging |
Het |
| Lgals3 |
A |
G |
14: 47,619,104 (GRCm39) |
I146V |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,394,519 (GRCm39) |
R2565C |
probably damaging |
Het |
| Miip |
G |
T |
4: 147,945,928 (GRCm39) |
D325E |
probably damaging |
Het |
| Naaladl1 |
T |
A |
19: 6,158,615 (GRCm39) |
V249E |
probably damaging |
Het |
| Nfxl1 |
C |
T |
5: 72,675,548 (GRCm39) |
R811K |
possibly damaging |
Het |
| Or12e10 |
T |
C |
2: 87,641,082 (GRCm39) |
I306T |
possibly damaging |
Het |
| Or2ag2b |
A |
G |
7: 106,418,046 (GRCm39) |
Y252C |
possibly damaging |
Het |
| Or52e7 |
A |
T |
7: 104,684,953 (GRCm39) |
I183F |
probably damaging |
Het |
| Or56a3b |
A |
G |
7: 104,770,685 (GRCm39) |
D7G |
probably benign |
Het |
| Or5ak24 |
T |
A |
2: 85,260,522 (GRCm39) |
Y217F |
probably damaging |
Het |
| Or6c69c |
C |
T |
10: 129,910,303 (GRCm39) |
T8I |
probably benign |
Het |
| Pkd2l2 |
A |
G |
18: 34,560,464 (GRCm39) |
D357G |
possibly damaging |
Het |
| Ppp1r36 |
A |
G |
12: 76,482,979 (GRCm39) |
Y189C |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,703,987 (GRCm39) |
E2011G |
probably damaging |
Het |
| Sestd1 |
T |
A |
2: 77,022,090 (GRCm39) |
T534S |
probably benign |
Het |
| Sfmbt1 |
G |
A |
14: 30,495,941 (GRCm39) |
A75T |
probably benign |
Het |
| Smarcc2 |
G |
A |
10: 128,320,262 (GRCm39) |
R882H |
probably benign |
Het |
| Son |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
16: 91,453,579 (GRCm39) |
|
probably benign |
Het |
| Speg |
C |
T |
1: 75,407,953 (GRCm39) |
A3216V |
probably damaging |
Het |
| Vmn1r12 |
A |
G |
6: 57,136,370 (GRCm39) |
T112A |
probably benign |
Het |
| Zfp937 |
T |
G |
2: 150,080,634 (GRCm39) |
D221E |
probably benign |
Het |
|
| Other mutations in Gpr85 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02414:Gpr85
|
APN |
6 |
13,836,909 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0784:Gpr85
|
UTSW |
6 |
13,836,748 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1356:Gpr85
|
UTSW |
6 |
13,836,146 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2343:Gpr85
|
UTSW |
6 |
13,836,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3934:Gpr85
|
UTSW |
6 |
13,836,044 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3935:Gpr85
|
UTSW |
6 |
13,836,044 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3936:Gpr85
|
UTSW |
6 |
13,836,044 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4925:Gpr85
|
UTSW |
6 |
13,835,977 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5313:Gpr85
|
UTSW |
6 |
13,836,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5586:Gpr85
|
UTSW |
6 |
13,836,000 (GRCm39) |
nonsense |
probably null |
|
|
R7043:Gpr85
|
UTSW |
6 |
13,835,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8458:Gpr85
|
UTSW |
6 |
13,836,848 (GRCm39) |
missense |
probably benign |
|
|
R8503:Gpr85
|
UTSW |
6 |
13,836,829 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9519:Gpr85
|
UTSW |
6 |
13,836,998 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATTTTGCCTGATGCCCAGC -3'
(R):5'- ACCGCTTCTATACAAAGAGGC -3'
Sequencing Primer
(F):5'- TGATGCCCAGCAAGGTG -3'
(R):5'- GCTTCTATACAAAGAGGCTGACC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation