Incidental Mutation 'R2944:Or8g35'
| ID |
264628 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8g35
|
| Ensembl Gene |
ENSMUSG00000063176 |
| Gene Name |
olfactory receptor family 8 subfamily G member 35 |
| Synonyms |
Olfr955, MOR171-50, GA_x6K02T2PVTD-33167297-33166353, MOR171-34 |
| MMRRC Submission |
040518-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R2944 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
39381076-39382020 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 39381234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 263
(S263T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151246
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073946]
[ENSMUST00000220176]
|
| AlphaFold |
Q9EQ97 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073946
AA Change: S263T
PolyPhen 2
Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000073602
Gene: ENSMUSG00000063176
AA Change: S263T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
1.2e-46 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.2e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216492
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219910
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220176
AA Change: S263T
PolyPhen 2
Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
T |
C |
7: 133,577,236 (GRCm39) |
M179V |
probably null |
Het |
| Alms1 |
C |
T |
6: 85,605,373 (GRCm39) |
T2341I |
probably damaging |
Het |
| Bpnt1 |
A |
G |
1: 185,084,406 (GRCm39) |
T168A |
probably damaging |
Het |
| Cdcp2 |
A |
C |
4: 106,959,755 (GRCm39) |
S57R |
possibly damaging |
Het |
| Cmya5 |
T |
A |
13: 93,229,350 (GRCm39) |
K1913* |
probably null |
Het |
| Coro1c |
C |
G |
5: 113,988,861 (GRCm39) |
G161R |
probably damaging |
Het |
| Csnk1a1 |
T |
C |
18: 61,711,760 (GRCm39) |
M258T |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,550,333 (GRCm39) |
C3318R |
probably damaging |
Het |
| Fyco1 |
A |
T |
9: 123,655,713 (GRCm39) |
M1015K |
probably benign |
Het |
| Hfm1 |
A |
G |
5: 107,020,196 (GRCm39) |
S290P |
probably damaging |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Lce1i |
G |
A |
3: 92,685,063 (GRCm39) |
P38S |
unknown |
Het |
| Nup210l |
T |
A |
3: 90,088,852 (GRCm39) |
S1156T |
probably damaging |
Het |
| Sec14l5 |
T |
A |
16: 4,998,697 (GRCm39) |
I579N |
probably benign |
Het |
| Semp2l2a |
A |
T |
8: 13,887,212 (GRCm39) |
L293Q |
probably damaging |
Het |
| Sh3tc1 |
C |
A |
5: 35,871,504 (GRCm39) |
V107L |
probably damaging |
Het |
| Tmprss11a |
T |
G |
5: 86,576,511 (GRCm39) |
R113S |
probably benign |
Het |
| Trmt10b |
A |
G |
4: 45,300,445 (GRCm39) |
M1V |
probably null |
Het |
| Ush1c |
T |
C |
7: 45,850,406 (GRCm39) |
E791G |
probably damaging |
Het |
| Uspl1 |
T |
C |
5: 149,138,606 (GRCm39) |
L328P |
probably damaging |
Het |
| Utrn |
G |
T |
10: 12,519,163 (GRCm39) |
T2263K |
probably damaging |
Het |
|
| Other mutations in Or8g35 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00157:Or8g35
|
APN |
9 |
39,381,539 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02550:Or8g35
|
APN |
9 |
39,381,842 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL02743:Or8g35
|
APN |
9 |
39,381,542 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0029:Or8g35
|
UTSW |
9 |
39,381,956 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0329:Or8g35
|
UTSW |
9 |
39,381,852 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0610:Or8g35
|
UTSW |
9 |
39,381,119 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1420:Or8g35
|
UTSW |
9 |
39,381,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1636:Or8g35
|
UTSW |
9 |
39,381,215 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1937:Or8g35
|
UTSW |
9 |
39,381,333 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2655:Or8g35
|
UTSW |
9 |
39,381,924 (GRCm39) |
missense |
probably benign |
|
|
R3788:Or8g35
|
UTSW |
9 |
39,381,365 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4829:Or8g35
|
UTSW |
9 |
39,381,663 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5625:Or8g35
|
UTSW |
9 |
39,381,099 (GRCm39) |
missense |
probably benign |
|
|
R6168:Or8g35
|
UTSW |
9 |
39,381,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6383:Or8g35
|
UTSW |
9 |
39,381,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6418:Or8g35
|
UTSW |
9 |
39,381,112 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6645:Or8g35
|
UTSW |
9 |
39,381,562 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7062:Or8g35
|
UTSW |
9 |
39,381,353 (GRCm39) |
missense |
probably benign |
|
|
R7765:Or8g35
|
UTSW |
9 |
39,381,612 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7847:Or8g35
|
UTSW |
9 |
39,381,801 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8122:Or8g35
|
UTSW |
9 |
39,381,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9578:Or8g35
|
UTSW |
9 |
39,381,201 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGTACACTGCAGTAATTTCC -3'
(R):5'- CTCACACAGTCTTCCTGCTAAG -3'
Sequencing Primer
(F):5'- CACTGCAGTAATTTCCAAGAAAATC -3'
(R):5'- GTGATCTTTTCCCATTACTTGAGCTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation