Incidental Mutation 'R1070:Or7a35'
| ID |
86170 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or7a35
|
| Ensembl Gene |
ENSMUSG00000063216 |
| Gene Name |
olfactory receptor family 7 subfamily A member 35 |
| Synonyms |
Olfr1351, GA_x6K02T2QGN0-2794907-2793948, MOR139-4 |
| MMRRC Submission |
039156-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
R1070 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
78853158-78854117 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 78853684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 176
(P176L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149241
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080730]
[ENSMUST00000203906]
[ENSMUST00000216030]
|
| AlphaFold |
Q8VGU6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080730
AA Change: P176L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000079555
Gene: ENSMUSG00000063216
AA Change: P176L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
|
Pfam:7tm_4
|
32 |
308 |
2e-49 |
PFAM |
|
Pfam:7tm_1
|
42 |
291 |
1.9e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203906
AA Change: P176L
|
| SMART Domains |
Protein: ENSMUSP00000144814
Gene: ENSMUSG00000060205
AA Change: P176L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
|
Pfam:7tm_4
|
32 |
308 |
2e-49 |
PFAM |
|
Pfam:7tm_1
|
42 |
291 |
1.9e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216030
AA Change: P176L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219714
|
| Meta Mutation Damage Score |
0.7681 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.7%
|
| Validation Efficiency |
95% (41/43) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,520,263 (GRCm39) |
D1367G |
probably damaging |
Het |
| Actr3b |
A |
G |
5: 26,053,491 (GRCm39) |
|
probably benign |
Het |
| Agtr1b |
A |
T |
3: 20,369,912 (GRCm39) |
N231K |
probably benign |
Het |
| Bach1 |
T |
C |
16: 87,517,009 (GRCm39) |
S517P |
probably benign |
Het |
| Blzf1 |
A |
G |
1: 164,131,499 (GRCm39) |
|
probably benign |
Het |
| Bptf |
G |
T |
11: 106,945,881 (GRCm39) |
Q2453K |
possibly damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Heatr4 |
T |
C |
12: 84,024,841 (GRCm39) |
T327A |
possibly damaging |
Het |
| Hes1 |
T |
C |
16: 29,886,101 (GRCm39) |
I235T |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,565,341 (GRCm39) |
D2262V |
probably damaging |
Het |
| Ifi208 |
C |
T |
1: 173,510,610 (GRCm39) |
A255V |
probably damaging |
Het |
| Inhbe |
T |
C |
10: 127,187,382 (GRCm39) |
I11M |
probably benign |
Het |
| Ipo9 |
T |
C |
1: 135,334,281 (GRCm39) |
E315G |
possibly damaging |
Het |
| Itih1 |
G |
T |
14: 30,664,413 (GRCm39) |
|
probably benign |
Het |
| Kcnk2 |
A |
G |
1: 188,988,960 (GRCm39) |
|
probably benign |
Het |
| Kdm4c |
T |
A |
4: 74,291,865 (GRCm39) |
Y827* |
probably null |
Het |
| Kif5a |
T |
C |
10: 127,081,275 (GRCm39) |
T220A |
probably benign |
Het |
| Krt78 |
A |
G |
15: 101,854,728 (GRCm39) |
Y1028H |
possibly damaging |
Het |
| Ldc1 |
T |
C |
4: 130,112,949 (GRCm39) |
E149G |
probably benign |
Het |
| Mylk4 |
T |
C |
13: 32,908,801 (GRCm39) |
D333G |
probably benign |
Het |
| Net1 |
A |
T |
13: 3,962,930 (GRCm39) |
S45T |
probably benign |
Het |
| Npat |
T |
A |
9: 53,483,892 (GRCm39) |
F1403I |
probably damaging |
Het |
| Or5h25 |
A |
G |
16: 58,930,182 (GRCm39) |
S264P |
probably benign |
Het |
| Or5p57 |
T |
C |
7: 107,665,858 (GRCm39) |
D49G |
probably benign |
Het |
| Pcif1 |
T |
C |
2: 164,731,058 (GRCm39) |
Y404H |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,390,052 (GRCm39) |
|
probably null |
Het |
| Rab3a |
A |
G |
8: 71,209,840 (GRCm39) |
N40S |
probably damaging |
Het |
| Raf1 |
T |
C |
6: 115,614,660 (GRCm39) |
N74D |
probably benign |
Het |
| Rap1gap2 |
A |
G |
11: 74,327,853 (GRCm39) |
V139A |
possibly damaging |
Het |
| Rdh12 |
T |
C |
12: 79,260,522 (GRCm39) |
L206P |
probably damaging |
Het |
| Rimoc1 |
C |
A |
15: 4,015,848 (GRCm39) |
V239F |
probably benign |
Het |
| Sdhb |
T |
C |
4: 140,698,547 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Strip1 |
T |
C |
3: 107,534,724 (GRCm39) |
E102G |
possibly damaging |
Het |
| Sult2a8 |
T |
A |
7: 14,147,698 (GRCm39) |
I198F |
probably damaging |
Het |
| Tars3 |
T |
C |
7: 65,305,444 (GRCm39) |
S223P |
probably damaging |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Vcam1 |
C |
T |
3: 115,904,552 (GRCm39) |
V732M |
possibly damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,652,681 (GRCm39) |
Y458H |
probably damaging |
Het |
|
| Other mutations in Or7a35 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00913:Or7a35
|
APN |
10 |
78,854,085 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01833:Or7a35
|
APN |
10 |
78,853,770 (GRCm39) |
missense |
probably benign |
|
|
IGL02141:Or7a35
|
APN |
10 |
78,853,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02178:Or7a35
|
APN |
10 |
78,853,554 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1631:Or7a35
|
UTSW |
10 |
78,853,239 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1646:Or7a35
|
UTSW |
10 |
78,853,340 (GRCm39) |
nonsense |
probably null |
|
|
R1781:Or7a35
|
UTSW |
10 |
78,853,159 (GRCm39) |
start codon destroyed |
probably null |
0.89 |
|
R2358:Or7a35
|
UTSW |
10 |
78,854,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3161:Or7a35
|
UTSW |
10 |
78,853,438 (GRCm39) |
missense |
probably benign |
|
|
R3162:Or7a35
|
UTSW |
10 |
78,853,438 (GRCm39) |
missense |
probably benign |
|
|
R3162:Or7a35
|
UTSW |
10 |
78,853,438 (GRCm39) |
missense |
probably benign |
|
|
R5874:Or7a35
|
UTSW |
10 |
78,853,191 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6382:Or7a35
|
UTSW |
10 |
78,853,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7108:Or7a35
|
UTSW |
10 |
78,853,483 (GRCm39) |
nonsense |
probably null |
|
|
R7567:Or7a35
|
UTSW |
10 |
78,853,379 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7568:Or7a35
|
UTSW |
10 |
78,853,341 (GRCm39) |
missense |
probably benign |
|
|
R7915:Or7a35
|
UTSW |
10 |
78,853,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7936:Or7a35
|
UTSW |
10 |
78,853,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9687:Or7a35
|
UTSW |
10 |
78,853,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Or7a35
|
UTSW |
10 |
78,854,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCATCACCTATGCAAACTGCATC -3'
(R):5'- ACTTCCCCTGCACTGAGGAGATTG -3'
Sequencing Primer
(F):5'- CTGACTGTGATGGCCTATGACC -3'
(R):5'- TTGCACAAATGGAGGACACTATC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation