Incidental Mutation 'R8440:Or5a1'
| ID |
660410 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5a1
|
| Ensembl Gene |
ENSMUSG00000067522 |
| Gene Name |
olfactory receptor family 5 subfamily A member 1 |
| Synonyms |
GA_x6K02T2RE5P-2479601-2478648, V5, Olfr76, MOR215-3 |
| MMRRC Submission |
067884-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.210)
|
| Stock # |
R8440 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
12097085-12098038 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 12097308 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 244
(C244Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149014
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087822]
[ENSMUST00000208391]
[ENSMUST00000213471]
[ENSMUST00000214103]
[ENSMUST00000214676]
|
| AlphaFold |
A0A2I3BR00 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087822
AA Change: C244Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000085124
Gene: ENSMUSG00000067522
AA Change: C244Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
34 |
311 |
9.2e-54 |
PFAM |
|
Pfam:7tm_1
|
44 |
293 |
5.6e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208391
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213471
AA Change: C256Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214103
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214676
AA Change: C244Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (38/39) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak5 |
G |
C |
3: 152,209,680 (GRCm39) |
|
probably null |
Het |
| Bbs9 |
T |
A |
9: 22,479,046 (GRCm39) |
V163E |
probably damaging |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| Cbr3 |
T |
C |
16: 93,480,421 (GRCm39) |
I70T |
probably damaging |
Het |
| Chka |
T |
C |
19: 3,943,375 (GRCm39) |
Y426H |
probably damaging |
Het |
| Cpq |
T |
A |
15: 33,213,341 (GRCm39) |
M120K |
possibly damaging |
Het |
| Dcaf1 |
T |
A |
9: 106,725,073 (GRCm39) |
C520S |
possibly damaging |
Het |
| Egfr |
T |
C |
11: 16,859,831 (GRCm39) |
Y1018H |
probably damaging |
Het |
| Eif3l |
T |
C |
15: 78,961,120 (GRCm39) |
Y58H |
possibly damaging |
Het |
| Frmd8 |
T |
C |
19: 5,915,202 (GRCm39) |
Y234C |
possibly damaging |
Het |
| Fus |
T |
C |
7: 127,568,998 (GRCm39) |
Y50H |
unknown |
Het |
| Hmcn1 |
T |
A |
1: 150,570,671 (GRCm39) |
Q2164L |
probably damaging |
Het |
| Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
| Hsd11b1 |
T |
C |
1: 192,904,420 (GRCm39) |
K260E |
probably benign |
Het |
| Igkv4-91 |
C |
T |
6: 68,745,556 (GRCm39) |
G114D |
probably benign |
Het |
| Inpp4b |
G |
A |
8: 82,768,524 (GRCm39) |
E678K |
probably damaging |
Het |
| Kifc3 |
G |
T |
8: 95,836,422 (GRCm39) |
P113Q |
possibly damaging |
Het |
| Lgi4 |
T |
A |
7: 30,760,049 (GRCm39) |
|
probably null |
Het |
| Map1s |
A |
G |
8: 71,365,163 (GRCm39) |
N107D |
probably damaging |
Het |
| Meiob |
G |
T |
17: 25,037,302 (GRCm39) |
C60F |
probably benign |
Het |
| Nedd4l |
G |
T |
18: 65,022,126 (GRCm39) |
|
probably null |
Het |
| Omp |
A |
G |
7: 97,794,253 (GRCm39) |
F125L |
probably damaging |
Het |
| Or1ad6 |
T |
C |
11: 50,860,024 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or51h1 |
G |
A |
7: 102,308,275 (GRCm39) |
M82I |
probably damaging |
Het |
| Pcdha3 |
T |
C |
18: 37,080,914 (GRCm39) |
V552A |
probably damaging |
Het |
| Plek |
T |
C |
11: 16,945,276 (GRCm39) |
D18G |
possibly damaging |
Het |
| Ppip5k2 |
T |
C |
1: 97,675,276 (GRCm39) |
T376A |
probably damaging |
Het |
| Prkdc |
CAAA |
CAAAA |
16: 15,653,022 (GRCm39) |
3833 |
probably null |
Het |
| Rabgap1 |
T |
C |
2: 37,432,692 (GRCm39) |
|
probably null |
Het |
| Rtn1 |
T |
A |
12: 72,270,173 (GRCm39) |
I113F |
probably damaging |
Het |
| Ssu2 |
T |
A |
6: 112,364,950 (GRCm39) |
D4V |
probably benign |
Het |
| St6galnac2 |
T |
C |
11: 116,568,374 (GRCm39) |
H363R |
probably damaging |
Het |
| Stk19 |
T |
C |
17: 35,055,456 (GRCm39) |
S60G |
possibly damaging |
Het |
| Suco |
G |
A |
1: 161,679,907 (GRCm39) |
T332I |
probably damaging |
Het |
| Trbv20 |
T |
A |
6: 41,165,892 (GRCm39) |
Y106N |
probably damaging |
Het |
| Uck1 |
C |
A |
2: 32,150,153 (GRCm39) |
|
probably benign |
Het |
| Vmn1r128 |
G |
A |
7: 21,083,745 (GRCm39) |
V150I |
probably benign |
Het |
| Vmn2r54 |
A |
T |
7: 12,350,013 (GRCm39) |
V523E |
possibly damaging |
Het |
| Vmn2r61 |
A |
T |
7: 41,916,080 (GRCm39) |
E231V |
probably benign |
Het |
| Xkr9 |
A |
G |
1: 13,771,603 (GRCm39) |
D373G |
probably benign |
Het |
| Zfp592 |
G |
C |
7: 80,691,271 (GRCm39) |
S1150T |
possibly damaging |
Het |
|
| Other mutations in Or5a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01099:Or5a1
|
APN |
19 |
12,097,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01693:Or5a1
|
APN |
19 |
12,097,921 (GRCm39) |
missense |
probably benign |
|
|
R0360:Or5a1
|
UTSW |
19 |
12,097,217 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0399:Or5a1
|
UTSW |
19 |
12,097,734 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0467:Or5a1
|
UTSW |
19 |
12,097,900 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0750:Or5a1
|
UTSW |
19 |
12,098,077 (GRCm39) |
splice site |
probably null |
|
|
R1432:Or5a1
|
UTSW |
19 |
12,097,603 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1535:Or5a1
|
UTSW |
19 |
12,097,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4739:Or5a1
|
UTSW |
19 |
12,097,234 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4767:Or5a1
|
UTSW |
19 |
12,097,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5032:Or5a1
|
UTSW |
19 |
12,097,420 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5367:Or5a1
|
UTSW |
19 |
12,097,800 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6363:Or5a1
|
UTSW |
19 |
12,097,530 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6426:Or5a1
|
UTSW |
19 |
12,097,212 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7162:Or5a1
|
UTSW |
19 |
12,097,501 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7224:Or5a1
|
UTSW |
19 |
12,097,912 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7565:Or5a1
|
UTSW |
19 |
12,097,375 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7739:Or5a1
|
UTSW |
19 |
12,097,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7863:Or5a1
|
UTSW |
19 |
12,097,974 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8387:Or5a1
|
UTSW |
19 |
12,097,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8672:Or5a1
|
UTSW |
19 |
12,097,921 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8736:Or5a1
|
UTSW |
19 |
12,097,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8790:Or5a1
|
UTSW |
19 |
12,097,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9314:Or5a1
|
UTSW |
19 |
12,097,144 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9573:Or5a1
|
UTSW |
19 |
12,097,509 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCACAGGGCATCTTTGATTTC -3'
(R):5'- GCGGGCCAAATGTCATCAAC -3'
Sequencing Primer
(F):5'- ACAGGGCATCTTTGATTTCTTTGTTC -3'
(R):5'- AAATGTCATCAACCACTTCTTCTGTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation