Incidental Mutation 'R7858:Or4c31'
| ID |
607323 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4c31
|
| Ensembl Gene |
ENSMUSG00000049372 |
| Gene Name |
olfactory receptor family 4 subfamily C member 31 |
| Synonyms |
MOR230-6, GA_x6K02T2Q125-49948903-49949814, Olfr1183 |
| MMRRC Submission |
045911-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R7858 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
88291686-88292597 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 88292056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 143
(C143Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154094
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102618]
[ENSMUST00000213115]
[ENSMUST00000219871]
|
| AlphaFold |
A0A2I3BQA3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102618
AA Change: C124Y
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099678
Gene: ENSMUSG00000049372
AA Change: C124Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
28 |
302 |
1.1e-47 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
32 |
299 |
1.8e-5 |
PFAM |
|
Pfam:7tm_1
|
38 |
284 |
1.5e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213115
AA Change: C143Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219871
AA Change: C124Y
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (32/32) |
| MGI Phenotype |
FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadl |
T |
C |
1: 66,877,483 (GRCm39) |
E356G |
probably benign |
Het |
| Adamtsl3 |
T |
C |
7: 82,099,371 (GRCm39) |
L175P |
probably damaging |
Het |
| Apon |
T |
C |
10: 128,090,328 (GRCm39) |
I2T |
probably benign |
Het |
| Ccny |
T |
A |
18: 9,386,782 (GRCm39) |
D61V |
probably damaging |
Het |
| Cp |
A |
G |
3: 20,025,219 (GRCm39) |
T393A |
probably benign |
Het |
| Cspg5 |
T |
C |
9: 110,080,134 (GRCm39) |
L434P |
probably damaging |
Het |
| Cyld |
T |
A |
8: 89,436,616 (GRCm39) |
I302N |
probably damaging |
Het |
| Ercc4 |
T |
C |
16: 12,943,169 (GRCm39) |
S283P |
probably damaging |
Het |
| Frem3 |
T |
A |
8: 81,338,350 (GRCm39) |
Y214* |
probably null |
Het |
| Gm1123 |
T |
C |
9: 98,896,107 (GRCm39) |
N258D |
possibly damaging |
Het |
| Gm9821 |
A |
T |
2: 91,776,351 (GRCm39) |
H101L |
unknown |
Het |
| Il36b |
T |
A |
2: 24,044,626 (GRCm39) |
C9S |
probably benign |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Mansc1 |
T |
C |
6: 134,587,377 (GRCm39) |
T267A |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,539,103 (GRCm39) |
D200G |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,357,166 (GRCm39) |
V1148L |
possibly damaging |
Het |
| Mycbp2 |
C |
A |
14: 103,393,741 (GRCm39) |
R2940L |
probably damaging |
Het |
| Myh7 |
A |
G |
14: 55,227,500 (GRCm39) |
F312L |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,507,141 (GRCm39) |
S874T |
probably benign |
Het |
| Prmt7 |
T |
G |
8: 106,971,320 (GRCm39) |
I452S |
possibly damaging |
Het |
| Setx |
A |
C |
2: 29,051,562 (GRCm39) |
D2038A |
probably damaging |
Het |
| Spen |
A |
T |
4: 141,215,442 (GRCm39) |
|
probably null |
Het |
| Sycp1 |
T |
C |
3: 102,806,273 (GRCm39) |
K473E |
probably benign |
Het |
| Uggt1 |
A |
G |
1: 36,195,339 (GRCm39) |
F1290S |
probably damaging |
Het |
| Unc13b |
T |
G |
4: 43,176,285 (GRCm39) |
V2371G |
unknown |
Het |
| Vmn2r4 |
C |
T |
3: 64,317,226 (GRCm39) |
V171I |
probably benign |
Het |
| Zfp35 |
T |
C |
18: 24,136,897 (GRCm39) |
C414R |
probably damaging |
Het |
| Zfp704 |
A |
G |
3: 9,509,217 (GRCm39) |
|
probably null |
Het |
| Zfp758 |
A |
G |
17: 22,594,359 (GRCm39) |
T282A |
probably benign |
Het |
| Zfp961 |
T |
C |
8: 72,704,949 (GRCm39) |
V4A |
unknown |
Het |
|
| Other mutations in Or4c31 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Or4c31
|
APN |
2 |
88,291,696 (GRCm39) |
missense |
probably benign |
|
|
IGL01150:Or4c31
|
APN |
2 |
88,292,419 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02894:Or4c31
|
APN |
2 |
88,292,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0382:Or4c31
|
UTSW |
2 |
88,292,069 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0401:Or4c31
|
UTSW |
2 |
88,292,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0664:Or4c31
|
UTSW |
2 |
88,292,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1990:Or4c31
|
UTSW |
2 |
88,291,686 (GRCm39) |
start codon destroyed |
probably null |
|
|
R3122:Or4c31
|
UTSW |
2 |
88,291,853 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4596:Or4c31
|
UTSW |
2 |
88,292,538 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7361:Or4c31
|
UTSW |
2 |
88,291,836 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7469:Or4c31
|
UTSW |
2 |
88,291,691 (GRCm39) |
missense |
probably benign |
|
|
R8023:Or4c31
|
UTSW |
2 |
88,292,022 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8147:Or4c31
|
UTSW |
2 |
88,292,427 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9026:Or4c31
|
UTSW |
2 |
88,292,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9103:Or4c31
|
UTSW |
2 |
88,291,942 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1176:Or4c31
|
UTSW |
2 |
88,292,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAGTCAGACACTTGGGAGTC -3'
(R):5'- CAATAAGGGCTGCAAATCGC -3'
Sequencing Primer
(F):5'- GGGAGTCCCATGTACTTTTTCC -3'
(R):5'- GCAAATCGCAGAAATAATGATCAATC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation