Incidental Mutation 'R0574:Or1o3'
| ID |
46591 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1o3
|
| Ensembl Gene |
ENSMUSG00000063660 |
| Gene Name |
olfactory receptor family 1 subfamily O member 3 |
| Synonyms |
Olfr98, GA_x6K02T2PSCP-1703582-1702653, MOR156-4 |
| MMRRC Submission |
038764-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R0574 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
37573624-37574553 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 37573772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Tyrosine
at position 261
(S261Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080759]
|
| AlphaFold |
Q8VFD9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080759
AA Change: S261Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000094936
Gene: ENSMUSG00000063660
AA Change: S261Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
28 |
305 |
9.2e-53 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
32 |
302 |
1.9e-5 |
PFAM |
|
Pfam:7tm_1
|
38 |
287 |
2.4e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122476
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174168
|
| Meta Mutation Damage Score |
0.3161 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.4%
|
| Validation Efficiency |
100% (34/34) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700099C18Rik |
T |
C |
17: 95,068,919 (GRCm39) |
|
noncoding transcript |
Het |
| Abca14 |
A |
G |
7: 119,823,720 (GRCm39) |
I416V |
probably damaging |
Het |
| Actrt3 |
T |
C |
3: 30,653,829 (GRCm39) |
E57G |
probably benign |
Het |
| Adamts5 |
A |
G |
16: 85,696,372 (GRCm39) |
S262P |
probably damaging |
Het |
| Aldh1a2 |
T |
C |
9: 71,188,990 (GRCm39) |
|
probably null |
Het |
| Arhgap29 |
A |
G |
3: 121,801,274 (GRCm39) |
I670V |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,967,353 (GRCm39) |
D1009G |
probably damaging |
Het |
| Ddr2 |
G |
T |
1: 169,809,532 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,270,734 (GRCm39) |
|
probably null |
Het |
| Itga1 |
A |
C |
13: 115,103,097 (GRCm39) |
S1111R |
probably damaging |
Het |
| Klk1b27 |
T |
A |
7: 43,705,525 (GRCm39) |
L199Q |
probably damaging |
Het |
| Lhx3 |
T |
C |
2: 26,091,323 (GRCm39) |
S329G |
probably benign |
Het |
| Man2b1 |
T |
G |
8: 85,823,405 (GRCm39) |
M913R |
probably benign |
Het |
| Mmp15 |
G |
A |
8: 96,092,029 (GRCm39) |
A80T |
possibly damaging |
Het |
| Mpo |
A |
T |
11: 87,686,902 (GRCm39) |
Y177F |
probably damaging |
Het |
| Mynn |
T |
C |
3: 30,670,888 (GRCm39) |
S587P |
probably benign |
Het |
| Nfkbib |
C |
T |
7: 28,461,213 (GRCm39) |
V145I |
probably benign |
Het |
| Or4k15 |
A |
T |
14: 50,364,139 (GRCm39) |
Y35F |
probably damaging |
Het |
| Or6k8-ps1 |
T |
C |
1: 173,979,132 (GRCm39) |
F17L |
probably benign |
Het |
| Pole2 |
G |
A |
12: 69,258,231 (GRCm39) |
|
probably benign |
Het |
| Ppargc1b |
C |
T |
18: 61,435,810 (GRCm39) |
G906D |
probably benign |
Het |
| Prl8a2 |
T |
A |
13: 27,532,883 (GRCm39) |
C32S |
probably damaging |
Het |
| Rhno1 |
A |
T |
6: 128,335,113 (GRCm39) |
|
probably null |
Het |
| Rprd2 |
T |
C |
3: 95,681,669 (GRCm39) |
E408G |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,746,555 (GRCm39) |
H1999L |
probably benign |
Het |
| Shprh |
T |
C |
10: 11,038,821 (GRCm39) |
|
probably benign |
Het |
| Snx3 |
T |
A |
10: 42,378,383 (GRCm39) |
N19K |
probably benign |
Het |
| Stx8 |
C |
T |
11: 67,864,078 (GRCm39) |
T46M |
probably damaging |
Het |
| Tbc1d17 |
A |
G |
7: 44,492,547 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
A |
G |
7: 45,846,228 (GRCm39) |
S855P |
possibly damaging |
Het |
| Usp54 |
A |
G |
14: 20,606,322 (GRCm39) |
V1338A |
probably benign |
Het |
| Vmn1r214 |
A |
G |
13: 23,218,663 (GRCm39) |
I52M |
probably benign |
Het |
|
| Other mutations in Or1o3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02402:Or1o3
|
APN |
17 |
37,574,111 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
PIT4495001:Or1o3
|
UTSW |
17 |
37,573,721 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1490:Or1o3
|
UTSW |
17 |
37,573,733 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1633:Or1o3
|
UTSW |
17 |
37,574,553 (GRCm39) |
start codon destroyed |
probably benign |
0.02 |
|
R2105:Or1o3
|
UTSW |
17 |
37,573,964 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4996:Or1o3
|
UTSW |
17 |
37,573,758 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5114:Or1o3
|
UTSW |
17 |
37,573,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5225:Or1o3
|
UTSW |
17 |
37,573,919 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5338:Or1o3
|
UTSW |
17 |
37,574,532 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5995:Or1o3
|
UTSW |
17 |
37,574,539 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6190:Or1o3
|
UTSW |
17 |
37,573,635 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7006:Or1o3
|
UTSW |
17 |
37,573,625 (GRCm39) |
makesense |
probably null |
|
|
R7246:Or1o3
|
UTSW |
17 |
37,573,905 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7261:Or1o3
|
UTSW |
17 |
37,574,076 (GRCm39) |
missense |
probably benign |
|
|
R7611:Or1o3
|
UTSW |
17 |
37,573,745 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7642:Or1o3
|
UTSW |
17 |
37,573,964 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8837:Or1o3
|
UTSW |
17 |
37,573,807 (GRCm39) |
nonsense |
probably null |
|
|
R9528:Or1o3
|
UTSW |
17 |
37,574,087 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGCATGATCCTTCCTTAGTCCTG -3'
(R):5'- GGCTATTGACCGCTATGCTGCTATC -3'
Sequencing Primer
(F):5'- TCAGAGTGGGTGTTACCAGA -3'
(R):5'- TACCTCAATGAGAGTCTGATGATGG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation