Incidental Mutation 'R0664:Gpr55'
| ID |
61936 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr55
|
| Ensembl Gene |
ENSMUSG00000049608 |
| Gene Name |
G protein-coupled receptor 55 |
| Synonyms |
CTFL, LOC227326 |
| MMRRC Submission |
038849-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0664 (G1)
|
| Quality Score |
99 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
85866039-85888729 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 85868739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 281
(S281T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086975]
[ENSMUST00000129392]
|
| AlphaFold |
Q3UJF0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086975
AA Change: S281T
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000084196
Gene: ENSMUSG00000049608
AA Change: S281T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
27 |
183 |
9.7e-9 |
PFAM |
|
Pfam:7tm_1
|
37 |
296 |
2.7e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129392
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190367
|
| Meta Mutation Damage Score |
0.2022 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.1%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the G-protein-coupled receptor superfamily. The encoded integral membrane protein is a likely cannabinoid receptor. It may be involved in several physiological and pathological processes by activating a variety of signal transduction pathways. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased bone volume due to impaired osteoclast function in male mice. Female mice exhibit a milder phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
GCC |
GC |
13: 59,839,412 (GRCm39) |
|
probably null |
Het |
| A530064D06Rik |
T |
C |
17: 48,473,759 (GRCm39) |
I53V |
probably benign |
Het |
| Abtb3 |
G |
A |
10: 85,224,234 (GRCm39) |
A348T |
possibly damaging |
Het |
| Agmo |
A |
T |
12: 37,302,571 (GRCm39) |
H136L |
probably damaging |
Het |
| B020004C17Rik |
G |
A |
14: 57,254,225 (GRCm39) |
R116H |
possibly damaging |
Het |
| Cacna1b |
A |
G |
2: 24,544,458 (GRCm39) |
S1243P |
probably damaging |
Het |
| Champ1 |
G |
A |
8: 13,929,485 (GRCm39) |
V548M |
probably damaging |
Het |
| Dnah7b |
A |
T |
1: 46,364,002 (GRCm39) |
M3541L |
probably damaging |
Het |
| Emc9 |
A |
G |
14: 55,819,365 (GRCm39) |
L138P |
possibly damaging |
Het |
| Epcam |
T |
A |
17: 87,947,398 (GRCm39) |
Y51N |
possibly damaging |
Het |
| Grid2ip |
T |
A |
5: 143,349,732 (GRCm39) |
|
probably null |
Het |
| Hgfac |
G |
T |
5: 35,205,522 (GRCm39) |
V601F |
probably benign |
Het |
| Hlcs |
A |
G |
16: 94,032,170 (GRCm39) |
W545R |
probably damaging |
Het |
| Hsd17b2 |
T |
C |
8: 118,485,440 (GRCm39) |
V301A |
possibly damaging |
Het |
| Ipo8 |
A |
T |
6: 148,701,711 (GRCm39) |
L466I |
probably benign |
Het |
| Jcad |
A |
G |
18: 4,676,063 (GRCm39) |
D1275G |
probably damaging |
Het |
| Mdn1 |
G |
T |
4: 32,768,011 (GRCm39) |
E5315* |
probably null |
Het |
| Nfam1 |
T |
C |
15: 82,899,139 (GRCm39) |
T176A |
probably damaging |
Het |
| Nsd3 |
T |
C |
8: 26,204,267 (GRCm39) |
F432S |
probably damaging |
Het |
| Or4c31 |
C |
T |
2: 88,292,515 (GRCm39) |
P296L |
probably damaging |
Het |
| Prmt5 |
G |
T |
14: 54,745,313 (GRCm39) |
T618K |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Serpinb7 |
A |
G |
1: 107,356,037 (GRCm39) |
D20G |
probably damaging |
Het |
| Slco1a4 |
T |
C |
6: 141,758,467 (GRCm39) |
I515V |
probably benign |
Het |
| Stk26 |
T |
A |
X: 49,976,803 (GRCm39) |
Y283* |
probably null |
Het |
| Tanc1 |
A |
T |
2: 59,674,228 (GRCm39) |
K1778* |
probably null |
Het |
| Thada |
A |
G |
17: 84,644,257 (GRCm39) |
L1288P |
probably damaging |
Het |
| Ttbk2 |
C |
A |
2: 120,579,302 (GRCm39) |
V607F |
probably damaging |
Het |
|
| Other mutations in Gpr55 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01331:Gpr55
|
APN |
1 |
85,868,915 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02087:Gpr55
|
APN |
1 |
85,868,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03296:Gpr55
|
APN |
1 |
85,868,753 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0119:Gpr55
|
UTSW |
1 |
85,869,146 (GRCm39) |
nonsense |
probably null |
|
|
R0166:Gpr55
|
UTSW |
1 |
85,868,858 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0529:Gpr55
|
UTSW |
1 |
85,869,225 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1670:Gpr55
|
UTSW |
1 |
85,869,137 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4490:Gpr55
|
UTSW |
1 |
85,869,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7719:Gpr55
|
UTSW |
1 |
85,869,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8049:Gpr55
|
UTSW |
1 |
85,869,419 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8371:Gpr55
|
UTSW |
1 |
85,868,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9017:Gpr55
|
UTSW |
1 |
85,868,624 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9480:Gpr55
|
UTSW |
1 |
85,868,977 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCGAGTGTCAAAAGCCAAGCC -3'
(R):5'- AGTATTCACATCCTGCTGCGCC -3'
Sequencing Primer
(F):5'- AGAATTTAGGACTGTGTTTTCCTTCC -3'
(R):5'- CCAGACAGCACTGAGGACTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation