Incidental Mutation 'IGL01823:Or14c45'
| ID |
154587 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or14c45
|
| Ensembl Gene |
ENSMUSG00000057067 |
| Gene Name |
olfactory receptor family 14 subfamily C member 45 |
| Synonyms |
Olfr297, GA_x6K02T2NHDJ-9587747-9586815, MOR220-3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
IGL01823
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
86175967-86176899 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86176249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 95
(C95R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134371
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071112]
[ENSMUST00000172965]
|
| AlphaFold |
Q7TS07 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071112
AA Change: C95R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132942
Gene: ENSMUSG00000057067
AA Change: C95R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
305 |
1.9e-45 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
1.4e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172965
AA Change: C95R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134371
Gene: ENSMUSG00000057067
AA Change: C95R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
305 |
1.2e-46 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
2e-20 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bmp6 |
A |
G |
13: 38,682,798 (GRCm39) |
T460A |
probably damaging |
Het |
| Cd209a |
T |
C |
8: 3,798,851 (GRCm39) |
|
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,212,391 (GRCm39) |
L1250P |
probably damaging |
Het |
| Evc |
T |
C |
5: 37,485,865 (GRCm39) |
N104D |
probably damaging |
Het |
| Fam161a |
A |
T |
11: 22,965,785 (GRCm39) |
E26V |
probably damaging |
Het |
| Foxa3 |
T |
C |
7: 18,748,443 (GRCm39) |
T228A |
probably benign |
Het |
| Gm8206 |
A |
T |
14: 6,017,078 (GRCm38) |
D133E |
probably benign |
Het |
| Ighv1-15 |
T |
A |
12: 114,621,212 (GRCm39) |
T38S |
probably benign |
Het |
| Ikzf1 |
A |
G |
11: 11,719,091 (GRCm39) |
D266G |
possibly damaging |
Het |
| Man2a1 |
T |
C |
17: 64,973,819 (GRCm39) |
I365T |
probably damaging |
Het |
| Mcm4 |
T |
C |
16: 15,443,995 (GRCm39) |
D756G |
probably damaging |
Het |
| Mroh9 |
G |
A |
1: 162,883,178 (GRCm39) |
L434F |
probably benign |
Het |
| Or13p4 |
A |
G |
4: 118,546,918 (GRCm39) |
C244R |
probably damaging |
Het |
| Phldb2 |
T |
A |
16: 45,645,507 (GRCm39) |
Y313F |
probably damaging |
Het |
| Psd4 |
A |
G |
2: 24,284,444 (GRCm39) |
S103G |
probably benign |
Het |
| Ripk4 |
T |
C |
16: 97,556,483 (GRCm39) |
I87V |
possibly damaging |
Het |
| Scn9a |
A |
T |
2: 66,314,386 (GRCm39) |
F1766L |
probably damaging |
Het |
| Slc10a5 |
A |
T |
3: 10,399,574 (GRCm39) |
V362D |
possibly damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,083,724 (GRCm39) |
D917G |
probably benign |
Het |
| Slc30a4 |
A |
G |
2: 122,544,012 (GRCm39) |
V110A |
probably damaging |
Het |
| Slc30a8 |
A |
G |
15: 52,159,358 (GRCm39) |
|
probably benign |
Het |
| Slc5a8 |
T |
A |
10: 88,755,334 (GRCm39) |
C480* |
probably null |
Het |
| Tmppe |
A |
G |
9: 114,234,175 (GRCm39) |
K158R |
probably benign |
Het |
| Tubb6 |
A |
G |
18: 67,535,343 (GRCm39) |
N414S |
probably damaging |
Het |
| Wnt8a |
A |
T |
18: 34,677,846 (GRCm39) |
T85S |
possibly damaging |
Het |
|
| Other mutations in Or14c45 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01686:Or14c45
|
APN |
7 |
86,175,986 (GRCm39) |
missense |
probably benign |
0.10 |
|
PIT4378001:Or14c45
|
UTSW |
7 |
86,176,306 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0304:Or14c45
|
UTSW |
7 |
86,176,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0737:Or14c45
|
UTSW |
7 |
86,176,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2177:Or14c45
|
UTSW |
7 |
86,176,870 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2436:Or14c45
|
UTSW |
7 |
86,176,591 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4289:Or14c45
|
UTSW |
7 |
86,176,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4639:Or14c45
|
UTSW |
7 |
86,175,969 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R5202:Or14c45
|
UTSW |
7 |
86,176,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5782:Or14c45
|
UTSW |
7 |
86,176,421 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6446:Or14c45
|
UTSW |
7 |
86,176,310 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6615:Or14c45
|
UTSW |
7 |
86,176,120 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6920:Or14c45
|
UTSW |
7 |
86,176,522 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7150:Or14c45
|
UTSW |
7 |
86,176,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7309:Or14c45
|
UTSW |
7 |
86,176,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7621:Or14c45
|
UTSW |
7 |
86,176,280 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8257:Or14c45
|
UTSW |
7 |
86,176,678 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9349:Or14c45
|
UTSW |
7 |
86,176,373 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9466:Or14c45
|
UTSW |
7 |
86,176,080 (GRCm39) |
missense |
probably benign |
|
|
R9479:Or14c45
|
UTSW |
7 |
86,176,285 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Posted On |
2014-02-04 |
Incidental Mutation