Incidental Mutation 'IGL02960:Or4c15'
| ID |
365295 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or4c15
|
| Ensembl Gene |
ENSMUSG00000075112 |
| Gene Name |
olfactory receptor family 4 subfamily C member 15 |
| Synonyms |
MOR233-16P, MOR233-21, GA_x6K02T2Q125-50409367-50408432, Olfr1211 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
IGL02960
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
88759722-88764870 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 88760128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 177
(M177R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150571
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099808]
[ENSMUST00000213412]
[ENSMUST00000215205]
|
| AlphaFold |
Q7TR09 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099808
AA Change: M177R
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000097396
Gene: ENSMUSG00000075112
AA Change: M177R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
9.5e-49 |
PFAM |
|
Pfam:7tm_1
|
39 |
286 |
2.5e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141958
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213412
AA Change: M177R
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215205
AA Change: M177R
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
G |
A |
14: 59,380,257 (GRCm39) |
R14C |
probably benign |
Het |
| Adam29 |
A |
T |
8: 56,325,701 (GRCm39) |
L251* |
probably null |
Het |
| Atpaf2 |
T |
C |
11: 60,296,650 (GRCm39) |
E161G |
probably damaging |
Het |
| Brwd1 |
T |
C |
16: 95,858,666 (GRCm39) |
D381G |
probably damaging |
Het |
| Cept1 |
T |
A |
3: 106,446,712 (GRCm39) |
R45* |
probably null |
Het |
| Col3a1 |
A |
G |
1: 45,367,615 (GRCm39) |
E273G |
unknown |
Het |
| Cuzd1 |
T |
C |
7: 130,921,832 (GRCm39) |
N57D |
probably benign |
Het |
| Cyp2b13 |
A |
G |
7: 25,761,101 (GRCm39) |
K53E |
probably benign |
Het |
| Fadd |
T |
C |
7: 144,134,276 (GRCm39) |
E203G |
probably benign |
Het |
| Gm3159 |
G |
A |
14: 4,400,552 (GRCm38) |
|
probably null |
Het |
| Gpr137c |
T |
C |
14: 45,483,890 (GRCm39) |
F206L |
possibly damaging |
Het |
| Hephl1 |
G |
T |
9: 14,995,615 (GRCm39) |
T471N |
probably damaging |
Het |
| Ido1 |
A |
T |
8: 25,083,345 (GRCm39) |
|
probably benign |
Het |
| Krt40 |
C |
T |
11: 99,430,693 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
A |
2: 69,285,797 (GRCm39) |
|
probably benign |
Het |
| Lrrc8a |
T |
A |
2: 30,147,025 (GRCm39) |
L613H |
probably damaging |
Het |
| Mettl14 |
A |
G |
3: 123,168,534 (GRCm39) |
Y169H |
probably damaging |
Het |
| Nlrp4a |
A |
G |
7: 26,149,155 (GRCm39) |
Q254R |
probably benign |
Het |
| Or7c70 |
A |
T |
10: 78,683,371 (GRCm39) |
I126N |
probably damaging |
Het |
| Pira12 |
T |
C |
7: 3,900,078 (GRCm39) |
T175A |
possibly damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,447,670 (GRCm39) |
M2241K |
possibly damaging |
Het |
| Ptprd |
G |
A |
4: 76,047,105 (GRCm39) |
S387L |
probably damaging |
Het |
| Ryr1 |
A |
C |
7: 28,759,478 (GRCm39) |
L3264R |
probably damaging |
Het |
| Serpina16 |
G |
A |
12: 103,641,638 (GRCm39) |
T29I |
probably benign |
Het |
| Slc9a7 |
A |
G |
X: 20,052,382 (GRCm39) |
M237T |
probably benign |
Het |
| Tbck |
A |
G |
3: 132,428,544 (GRCm39) |
T300A |
probably benign |
Het |
| Tcaf1 |
A |
C |
6: 42,663,393 (GRCm39) |
D162E |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,717,217 (GRCm39) |
|
probably benign |
Het |
| Usp17le |
A |
C |
7: 104,417,947 (GRCm39) |
H398Q |
probably benign |
Het |
| Utp15 |
G |
A |
13: 98,389,389 (GRCm39) |
T303M |
probably benign |
Het |
| Vmn2r86 |
A |
C |
10: 130,289,636 (GRCm39) |
D86E |
possibly damaging |
Het |
| Zmym2 |
T |
A |
14: 57,175,870 (GRCm39) |
C822S |
probably benign |
Het |
| Zp3r |
T |
C |
1: 130,511,175 (GRCm39) |
D336G |
possibly damaging |
Het |
| Zpr1 |
A |
G |
9: 46,184,849 (GRCm39) |
H82R |
probably damaging |
Het |
|
| Other mutations in Or4c15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02724:Or4c15
|
APN |
2 |
88,759,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02936:Or4c15
|
APN |
2 |
88,760,128 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02989:Or4c15
|
APN |
2 |
88,760,048 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0193:Or4c15
|
UTSW |
2 |
88,760,627 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0413:Or4c15
|
UTSW |
2 |
88,759,906 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1644:Or4c15
|
UTSW |
2 |
88,759,731 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3715:Or4c15
|
UTSW |
2 |
88,759,757 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4019:Or4c15
|
UTSW |
2 |
88,760,080 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4722:Or4c15
|
UTSW |
2 |
88,760,324 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4751:Or4c15
|
UTSW |
2 |
88,760,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4859:Or4c15
|
UTSW |
2 |
88,760,627 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5053:Or4c15
|
UTSW |
2 |
88,760,597 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6148:Or4c15
|
UTSW |
2 |
88,760,597 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7064:Or4c15
|
UTSW |
2 |
88,759,853 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7527:Or4c15
|
UTSW |
2 |
88,760,434 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7584:Or4c15
|
UTSW |
2 |
88,760,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7989:Or4c15
|
UTSW |
2 |
88,759,858 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-12-18 |
Incidental Mutation