Incidental Mutation 'R0104:Or8d23'
| ID |
16919 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8d23
|
| Ensembl Gene |
ENSMUSG00000063221 |
| Gene Name |
olfactory receptor family 8 subfamily D member 23 |
| Synonyms |
MOR171-46, Olfr930, GA_x6K02T2PVTD-32626123-32627049 |
| MMRRC Submission |
038390-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.324)
|
| Stock # |
R0104 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
38841469-38842395 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38842261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 265
(S265G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149230
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058789]
[ENSMUST00000217208]
|
| AlphaFold |
Q9EQ99 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058789
AA Change: S265G
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000080385
Gene: ENSMUSG00000063221
AA Change: S265G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
1.3e-45 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.4e-19 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217208
AA Change: S265G
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.1556 |
| Coding Region Coverage |
- 1x: 75.5%
- 3x: 52.6%
- 10x: 7.5%
- 20x: 3.0%
|
| Validation Efficiency |
100% (37/37) |
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3100002H09Rik |
C |
A |
4: 124,504,469 (GRCm39) |
A28S |
probably damaging |
Het |
| Arhgap5 |
A |
T |
12: 52,563,500 (GRCm39) |
D157V |
probably damaging |
Het |
| Cfap54 |
G |
T |
10: 92,864,514 (GRCm39) |
H142N |
probably damaging |
Het |
| Dpp10 |
A |
T |
1: 123,295,572 (GRCm39) |
M525K |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,809,317 (GRCm39) |
T1879S |
possibly damaging |
Het |
| Gm14129 |
T |
C |
2: 148,773,493 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv2-7 |
A |
T |
12: 113,771,088 (GRCm39) |
W66R |
probably damaging |
Het |
| Kif11 |
T |
A |
19: 37,401,663 (GRCm39) |
V880D |
probably benign |
Het |
| Mcpt1 |
T |
A |
14: 56,256,888 (GRCm39) |
M142K |
possibly damaging |
Het |
| Mlst8 |
T |
C |
17: 24,695,091 (GRCm39) |
N264S |
possibly damaging |
Het |
| Nmrk1 |
T |
A |
19: 18,618,582 (GRCm39) |
S88R |
probably benign |
Het |
| Or14j2 |
T |
A |
17: 37,885,817 (GRCm39) |
I166F |
probably damaging |
Het |
| Rtn1 |
A |
T |
12: 72,355,619 (GRCm39) |
I109N |
probably damaging |
Het |
| Slc15a2 |
T |
A |
16: 36,594,997 (GRCm39) |
L156F |
possibly damaging |
Het |
| Slc22a21 |
A |
C |
11: 53,842,635 (GRCm39) |
M498R |
probably null |
Het |
| Ssc5d |
T |
C |
7: 4,939,285 (GRCm39) |
S574P |
probably benign |
Het |
| Taf2 |
T |
C |
15: 54,901,734 (GRCm39) |
D820G |
probably benign |
Het |
| Tas2r135 |
A |
T |
6: 42,383,258 (GRCm39) |
I266F |
possibly damaging |
Het |
| Trgv4 |
C |
T |
13: 19,369,480 (GRCm39) |
H75Y |
probably damaging |
Het |
| Vil1 |
A |
G |
1: 74,457,525 (GRCm39) |
K53E |
probably benign |
Het |
| Zfc3h1 |
T |
A |
10: 115,251,192 (GRCm39) |
M1261K |
possibly damaging |
Het |
| Zfp655 |
T |
C |
5: 145,180,825 (GRCm39) |
S228P |
probably damaging |
Het |
| Zfyve9 |
C |
A |
4: 108,575,360 (GRCm39) |
D574Y |
probably damaging |
Het |
|
| Other mutations in Or8d23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02074:Or8d23
|
APN |
9 |
38,841,979 (GRCm39) |
missense |
probably benign |
|
|
IGL02309:Or8d23
|
APN |
9 |
38,842,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0285:Or8d23
|
UTSW |
9 |
38,842,070 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1557:Or8d23
|
UTSW |
9 |
38,841,955 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1804:Or8d23
|
UTSW |
9 |
38,841,946 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1989:Or8d23
|
UTSW |
9 |
38,842,171 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2158:Or8d23
|
UTSW |
9 |
38,841,875 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4934:Or8d23
|
UTSW |
9 |
38,842,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5108:Or8d23
|
UTSW |
9 |
38,842,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6036:Or8d23
|
UTSW |
9 |
38,842,216 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6036:Or8d23
|
UTSW |
9 |
38,842,216 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6459:Or8d23
|
UTSW |
9 |
38,841,961 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6862:Or8d23
|
UTSW |
9 |
38,841,772 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6928:Or8d23
|
UTSW |
9 |
38,841,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7042:Or8d23
|
UTSW |
9 |
38,841,622 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7365:Or8d23
|
UTSW |
9 |
38,842,072 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8733:Or8d23
|
UTSW |
9 |
38,841,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8829:Or8d23
|
UTSW |
9 |
38,842,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9323:Or8d23
|
UTSW |
9 |
38,841,818 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-01-20 |
Incidental Mutation