Incidental Mutation 'R1111:Or7g17'
| ID |
96747 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or7g17
|
| Ensembl Gene |
ENSMUSG00000051414 |
| Gene Name |
olfactory receptor family 7 subfamily G member 17 |
| Synonyms |
Olfr829, GA_x6K02T2PVTD-12599710-12600648, MOR147-1 |
| MMRRC Submission |
039184-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.231)
|
| Stock # |
R1111 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
18767923-18768888 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to T
at 18768888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Cysteine
at position 313
(*313C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148395
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058411]
[ENSMUST00000212229]
|
| AlphaFold |
Q8VGX1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000058411
AA Change: *322C
|
| SMART Domains |
Protein: ENSMUSP00000058101
Gene: ENSMUSG00000051414
AA Change: *322C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
40 |
317 |
2e-52 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
44 |
174 |
1e-10 |
PFAM |
|
Pfam:7tm_1
|
50 |
299 |
1.6e-21 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212229
AA Change: *313C
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 91.4%
|
| 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: 11 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adsl |
T |
A |
15: 80,851,861 (GRCm39) |
N421K |
probably damaging |
Het |
| Crip2 |
C |
T |
12: 113,107,694 (GRCm39) |
Q86* |
probably null |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Kcp |
T |
C |
6: 29,485,422 (GRCm39) |
S1191G |
probably benign |
Het |
| Nr5a2 |
A |
T |
1: 136,810,159 (GRCm39) |
|
probably null |
Het |
| Rdm1 |
T |
C |
11: 101,524,721 (GRCm39) |
V218A |
probably benign |
Het |
| Slc22a4 |
T |
C |
11: 53,898,667 (GRCm39) |
T142A |
probably benign |
Het |
| Tgfbrap1 |
G |
A |
1: 43,091,136 (GRCm39) |
A663V |
probably benign |
Het |
| Togaram1 |
A |
G |
12: 65,053,115 (GRCm39) |
N1282D |
probably damaging |
Het |
| Zfp687 |
T |
C |
3: 94,916,823 (GRCm39) |
S768G |
probably damaging |
Het |
|
| Other mutations in Or7g17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01142:Or7g17
|
APN |
9 |
18,768,830 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01696:Or7g17
|
APN |
9 |
18,768,352 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02285:Or7g17
|
APN |
9 |
18,768,286 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0133:Or7g17
|
UTSW |
9 |
18,767,925 (GRCm39) |
start codon destroyed |
probably null |
|
|
R0173:Or7g17
|
UTSW |
9 |
18,768,325 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0270:Or7g17
|
UTSW |
9 |
18,768,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0449:Or7g17
|
UTSW |
9 |
18,767,945 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1462:Or7g17
|
UTSW |
9 |
18,768,407 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1462:Or7g17
|
UTSW |
9 |
18,768,407 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1845:Or7g17
|
UTSW |
9 |
18,768,782 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4090:Or7g17
|
UTSW |
9 |
18,768,398 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4096:Or7g17
|
UTSW |
9 |
18,767,933 (GRCm39) |
missense |
probably benign |
|
|
R4097:Or7g17
|
UTSW |
9 |
18,767,933 (GRCm39) |
missense |
probably benign |
|
|
R4755:Or7g17
|
UTSW |
9 |
18,768,476 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4867:Or7g17
|
UTSW |
9 |
18,768,862 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5084:Or7g17
|
UTSW |
9 |
18,768,632 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7216:Or7g17
|
UTSW |
9 |
18,768,632 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7252:Or7g17
|
UTSW |
9 |
18,768,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7300:Or7g17
|
UTSW |
9 |
18,768,530 (GRCm39) |
missense |
not run |
|
|
R7412:Or7g17
|
UTSW |
9 |
18,768,085 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8079:Or7g17
|
UTSW |
9 |
18,768,725 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9083:Or7g17
|
UTSW |
9 |
18,768,550 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9648:Or7g17
|
UTSW |
9 |
18,768,748 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
X0024:Or7g17
|
UTSW |
9 |
18,768,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0057:Or7g17
|
UTSW |
9 |
18,767,933 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
|
| Posted On |
2014-01-05 |
Incidental Mutation