Incidental Mutation 'R2982:Or7a36'
| ID |
257104 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or7a36
|
| Ensembl Gene |
ENSMUSG00000046493 |
| Gene Name |
olfactory receptor family 7 subfamily A member 36 |
| Synonyms |
GA_x6K02T2QGN0-2828447-2827518, MOR139-1, Olfr1352 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R2982 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
78816884-78820555 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78820274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 217
(S217P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058991]
[ENSMUST00000203973]
|
| AlphaFold |
Q8VGX5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058991
AA Change: S217P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054355
Gene: ENSMUSG00000046493
AA Change: S217P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
4.7e-52 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
9.1e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
4.7e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203973
|
| SMART Domains |
Protein: ENSMUSP00000144895
Gene: ENSMUSG00000046493
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
1 |
122 |
6.1e-25 |
PFAM |
|
Pfam:7TM_GPCR_Srx
|
1 |
123 |
7.5e-5 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
2 |
123 |
4.5e-8 |
PFAM |
|
Pfam:7tm_1
|
8 |
123 |
2.1e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219714
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fgfr1 |
T |
C |
8: 26,048,227 (GRCm39) |
F106L |
probably benign |
Het |
| Hpse2 |
T |
A |
19: 43,373,182 (GRCm39) |
D149V |
probably null |
Het |
| Hsd3b5 |
T |
A |
3: 98,527,116 (GRCm39) |
D110V |
possibly damaging |
Het |
| Klhl42 |
T |
C |
6: 146,993,114 (GRCm39) |
Y29H |
probably damaging |
Het |
| Klk1 |
G |
A |
7: 43,878,863 (GRCm39) |
C117Y |
probably damaging |
Het |
| Mfhas1 |
T |
C |
8: 36,058,269 (GRCm39) |
Y915H |
probably benign |
Het |
| Msantd2 |
A |
G |
9: 37,434,639 (GRCm39) |
Q293R |
probably damaging |
Het |
| Or1l4b |
G |
T |
2: 37,036,393 (GRCm39) |
M56I |
probably damaging |
Het |
| Or9g20 |
T |
A |
2: 85,629,694 (GRCm39) |
I307F |
probably benign |
Het |
| Osgin1 |
T |
G |
8: 120,169,274 (GRCm39) |
L35R |
probably damaging |
Het |
| Rufy1 |
C |
T |
11: 50,310,535 (GRCm39) |
R210K |
possibly damaging |
Het |
| Spats2 |
T |
C |
15: 99,108,927 (GRCm39) |
S426P |
probably benign |
Het |
| Tnc |
T |
A |
4: 63,938,756 (GRCm39) |
I28F |
possibly damaging |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Zfp512 |
C |
A |
5: 31,634,122 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Or7a36 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01468:Or7a36
|
APN |
10 |
78,819,696 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01865:Or7a36
|
APN |
10 |
78,820,512 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0196:Or7a36
|
UTSW |
10 |
78,820,023 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0362:Or7a36
|
UTSW |
10 |
78,820,220 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1574:Or7a36
|
UTSW |
10 |
78,819,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1574:Or7a36
|
UTSW |
10 |
78,819,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4724:Or7a36
|
UTSW |
10 |
78,820,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5000:Or7a36
|
UTSW |
10 |
78,820,514 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5085:Or7a36
|
UTSW |
10 |
78,819,928 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5145:Or7a36
|
UTSW |
10 |
78,820,143 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5455:Or7a36
|
UTSW |
10 |
78,820,371 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5777:Or7a36
|
UTSW |
10 |
78,820,512 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5822:Or7a36
|
UTSW |
10 |
78,820,023 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6283:Or7a36
|
UTSW |
10 |
78,820,113 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7242:Or7a36
|
UTSW |
10 |
78,820,331 (GRCm39) |
nonsense |
probably null |
|
|
R7504:Or7a36
|
UTSW |
10 |
78,820,494 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8198:Or7a36
|
UTSW |
10 |
78,820,443 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8268:Or7a36
|
UTSW |
10 |
78,819,831 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8684:Or7a36
|
UTSW |
10 |
78,820,212 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8928:Or7a36
|
UTSW |
10 |
78,820,547 (GRCm39) |
missense |
|
|
|
R9408:Or7a36
|
UTSW |
10 |
78,820,220 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9626:Or7a36
|
UTSW |
10 |
78,820,213 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCATGCCTTGTTACAAAGC -3'
(R):5'- AGGGTTTAGCATGGGAGTCAC -3'
Sequencing Primer
(F):5'- CCTTGTTACAAAGCATGATGGTGC -3'
(R):5'- TACATCACAGAGGCTGTTGC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation