Incidental Mutation 'R5145:Or7a36'
ID |
395088 |
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 |
MMRRC Submission |
042729-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R5145 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
78816884-78820555 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 78820143 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 173
(E173G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054355
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058991]
[ENSMUST00000203973]
|
AlphaFold |
Q8VGX5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058991
AA Change: E173G
PolyPhen 2
Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000054355 Gene: ENSMUSG00000046493 AA Change: E173G
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
|
Meta Mutation Damage Score |
0.4556 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (37/37) |
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts12 |
G |
A |
15: 11,285,962 (GRCm39) |
G724R |
probably damaging |
Het |
Adgrg7 |
T |
A |
16: 56,562,682 (GRCm39) |
I552L |
probably benign |
Het |
Ankrd11 |
A |
G |
8: 123,617,943 (GRCm39) |
|
probably benign |
Het |
Col12a1 |
T |
C |
9: 79,613,582 (GRCm39) |
T88A |
probably benign |
Het |
Col6a5 |
T |
G |
9: 105,811,444 (GRCm39) |
I692L |
unknown |
Het |
Cry2 |
T |
C |
2: 92,243,405 (GRCm39) |
I479V |
probably benign |
Het |
Ddx21 |
T |
C |
10: 62,423,318 (GRCm39) |
|
probably null |
Het |
Efcab12 |
T |
A |
6: 115,800,238 (GRCm39) |
I262F |
probably damaging |
Het |
Eif2ak2 |
T |
C |
17: 79,183,633 (GRCm39) |
D72G |
possibly damaging |
Het |
Fry |
T |
C |
5: 150,293,689 (GRCm39) |
F461L |
probably damaging |
Het |
Gm38706 |
G |
A |
6: 130,460,731 (GRCm39) |
|
noncoding transcript |
Het |
Gm9772 |
C |
T |
17: 22,226,107 (GRCm39) |
C59Y |
probably damaging |
Het |
Meig1 |
T |
C |
2: 3,410,263 (GRCm39) |
E79G |
probably damaging |
Het |
Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
Mfsd2b |
T |
A |
12: 4,915,908 (GRCm39) |
|
probably benign |
Het |
Nfatc2 |
A |
C |
2: 168,431,987 (GRCm39) |
I42S |
probably benign |
Het |
Nlgn3 |
G |
A |
X: 100,361,891 (GRCm39) |
V287I |
probably benign |
Het |
Npy6r |
C |
T |
18: 44,409,686 (GRCm39) |
T369I |
probably benign |
Het |
Ptprb |
A |
G |
10: 116,179,820 (GRCm39) |
T1413A |
probably benign |
Het |
Ptprc |
A |
G |
1: 138,017,304 (GRCm39) |
S624P |
probably benign |
Het |
Pum3 |
A |
G |
19: 27,377,169 (GRCm39) |
V441A |
probably damaging |
Het |
Ranbp2 |
T |
A |
10: 58,315,860 (GRCm39) |
D2193E |
probably damaging |
Het |
Rbl1 |
A |
T |
2: 157,017,397 (GRCm39) |
|
probably benign |
Het |
Rnf167 |
T |
C |
11: 70,540,906 (GRCm39) |
|
probably benign |
Het |
Sdr9c7 |
T |
C |
10: 127,738,259 (GRCm39) |
V179A |
probably damaging |
Het |
Sema3c |
A |
G |
5: 17,932,615 (GRCm39) |
N706S |
possibly damaging |
Het |
Stt3a |
T |
C |
9: 36,646,762 (GRCm39) |
Y617C |
probably damaging |
Het |
Tdrd6 |
T |
A |
17: 43,936,966 (GRCm39) |
S1361C |
probably damaging |
Het |
Tha1 |
A |
C |
11: 117,760,502 (GRCm39) |
S241A |
probably damaging |
Het |
Tti1 |
G |
A |
2: 157,850,432 (GRCm39) |
A269V |
probably benign |
Het |
Ugt2a1 |
A |
G |
5: 87,633,886 (GRCm39) |
|
probably null |
Het |
Vmn2r10 |
T |
C |
5: 109,143,761 (GRCm39) |
T730A |
possibly damaging |
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 |
R2982:Or7a36
|
UTSW |
10 |
78,820,274 (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 |
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'- TTCCTCCTGGCTGTAATGGC -3'
(R):5'- TGTGACTTACTGCAGAACTGAGG -3'
Sequencing Primer
(F):5'- GCTGTAATGGCCTATGACCG -3'
(R):5'- CTGAGGTATACTCCTAGACCAGTG -3'
|
Posted On |
2016-06-21 |