Incidental Mutation 'R2917:Gpr33'
| ID |
254914 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr33
|
| Ensembl Gene |
ENSMUSG00000035148 |
| Gene Name |
G protein-coupled receptor 33 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2917 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
52069786-52074846 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52070379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 220
(V220A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048059
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040161]
|
| AlphaFold |
O88416 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040161
AA Change: V220A
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000048059
Gene: ENSMUSG00000035148
AA Change: V220A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
46 |
299 |
3.6e-32 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene has been identified as an orphan chemoattractant G-protein-coupled receptors (GPCR) pseudogene. Studies have shown that the inactivated gene is present as the predominant allele in the human population. A small fraction of the human population has been found to harbor an intact allele.[provided by RefSeq, Oct 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
T |
A |
17: 57,192,141 (GRCm39) |
V568E |
probably damaging |
Het |
| Ap3m2 |
A |
G |
8: 23,289,815 (GRCm39) |
V96A |
probably benign |
Het |
| Bglap3 |
G |
C |
3: 88,276,819 (GRCm39) |
|
probably benign |
Het |
| Brd7 |
A |
G |
8: 89,069,408 (GRCm39) |
I429T |
probably damaging |
Het |
| Cacna1h |
A |
C |
17: 25,614,426 (GRCm39) |
L230R |
probably damaging |
Het |
| Camta2 |
A |
G |
11: 70,571,787 (GRCm39) |
F479S |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,227,572 (GRCm39) |
Y2505* |
probably null |
Het |
| Colgalt2 |
T |
A |
1: 152,347,495 (GRCm39) |
V143D |
probably damaging |
Het |
| Dnaja1 |
C |
T |
4: 40,724,052 (GRCm39) |
A71V |
possibly damaging |
Het |
| Hsph1 |
A |
T |
5: 149,554,251 (GRCm39) |
L168* |
probably null |
Het |
| Lig4 |
T |
A |
8: 10,021,596 (GRCm39) |
E728V |
possibly damaging |
Het |
| Mrps23 |
T |
C |
11: 88,100,743 (GRCm39) |
S75P |
probably damaging |
Het |
| Or2aa1 |
T |
C |
11: 59,480,265 (GRCm39) |
T217A |
probably benign |
Het |
| Or5af2 |
A |
G |
11: 58,708,314 (GRCm39) |
N160S |
probably damaging |
Het |
| Prss50 |
G |
T |
9: 110,691,613 (GRCm39) |
G306C |
probably null |
Het |
| Rnf149 |
A |
T |
1: 39,591,564 (GRCm39) |
S392T |
probably benign |
Het |
| Scn8a |
T |
A |
15: 100,937,613 (GRCm39) |
F1661I |
probably damaging |
Het |
| Slc12a8 |
T |
A |
16: 33,371,296 (GRCm39) |
I144N |
probably damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,021,004 (GRCm39) |
L630* |
probably null |
Het |
| Tmem131l |
G |
A |
3: 83,844,887 (GRCm39) |
R441* |
probably null |
Het |
| Trim63 |
T |
C |
4: 134,050,462 (GRCm39) |
Y249H |
probably damaging |
Het |
| Vmn2r125 |
T |
G |
4: 156,703,564 (GRCm39) |
L314R |
probably benign |
Het |
| Vwf |
A |
G |
6: 125,585,106 (GRCm39) |
N663D |
probably benign |
Het |
|
| Other mutations in Gpr33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01655:Gpr33
|
APN |
12 |
52,070,343 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02177:Gpr33
|
APN |
12 |
52,070,863 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03090:Gpr33
|
APN |
12 |
52,070,809 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0883:Gpr33
|
UTSW |
12 |
52,070,418 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1112:Gpr33
|
UTSW |
12 |
52,070,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1127:Gpr33
|
UTSW |
12 |
52,070,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1742:Gpr33
|
UTSW |
12 |
52,071,045 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1967:Gpr33
|
UTSW |
12 |
52,070,991 (GRCm39) |
missense |
probably benign |
|
|
R2208:Gpr33
|
UTSW |
12 |
52,070,236 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4308:Gpr33
|
UTSW |
12 |
52,070,423 (GRCm39) |
nonsense |
probably null |
|
|
R4725:Gpr33
|
UTSW |
12 |
52,070,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5616:Gpr33
|
UTSW |
12 |
52,070,377 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7055:Gpr33
|
UTSW |
12 |
52,071,036 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R7272:Gpr33
|
UTSW |
12 |
52,070,848 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7419:Gpr33
|
UTSW |
12 |
52,070,050 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8313:Gpr33
|
UTSW |
12 |
52,070,907 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8514:Gpr33
|
UTSW |
12 |
52,070,181 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTCCCAGTGTCAAGTGTAAAG -3'
(R):5'- GCAAATCTGGATTTCTGCCAC -3'
Sequencing Primer
(F):5'- TCCCAGTGTCAAGTGTAAAGGTAATG -3'
(R):5'- CAGCATACCCTATTTAGTTTTCAGG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation