Incidental Mutation 'R2881:Or4a47'
| ID |
260305 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4a47
|
| Ensembl Gene |
ENSMUSG00000075073 |
| Gene Name |
olfactory receptor family 4 subfamily A member 47 |
| Synonyms |
MOR231-1, Olfr1256, GA_x6K02T2Q125-51276848-51275928 |
| MMRRC Submission |
040469-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R2881 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
89665367-89666287 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 89675328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097350
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099762]
[ENSMUST00000099762]
[ENSMUST00000111520]
[ENSMUST00000213833]
[ENSMUST00000214428]
[ENSMUST00000215613]
|
| AlphaFold |
Q8VGP1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000099762
|
| SMART Domains |
Protein: ENSMUSP00000097350
Gene: ENSMUSG00000075072
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
26 |
299 |
1e-47 |
PFAM |
|
Pfam:7tm_1
|
36 |
282 |
8.5e-16 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000099762
|
| SMART Domains |
Protein: ENSMUSP00000097350
Gene: ENSMUSG00000075072
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
26 |
299 |
1e-47 |
PFAM |
|
Pfam:7tm_1
|
36 |
282 |
8.5e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111520
|
| SMART Domains |
Protein: ENSMUSP00000107145
Gene: ENSMUSG00000075073
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
2.5e-47 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
33 |
300 |
1.1e-5 |
PFAM |
|
Pfam:7tm_1
|
39 |
285 |
1.3e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213833
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214428
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215613
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216674
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Atp9a |
T |
C |
2: 168,548,134 (GRCm39) |
Y7C |
probably damaging |
Het |
| Bsn |
C |
T |
9: 107,990,266 (GRCm39) |
A1829T |
possibly damaging |
Het |
| Camta2 |
A |
T |
11: 70,570,490 (GRCm39) |
|
probably null |
Het |
| Ces1d |
C |
A |
8: 93,921,659 (GRCm39) |
G35W |
probably damaging |
Het |
| Chd3 |
T |
C |
11: 69,242,946 (GRCm39) |
D1425G |
probably damaging |
Het |
| Coasy |
G |
A |
11: 100,976,675 (GRCm39) |
V482I |
possibly damaging |
Het |
| Cyp2j9 |
A |
T |
4: 96,462,249 (GRCm39) |
V344E |
probably damaging |
Het |
| Dhx30 |
A |
T |
9: 109,927,913 (GRCm39) |
Y73* |
probably null |
Het |
| Ewsr1 |
C |
A |
11: 5,028,523 (GRCm39) |
|
probably benign |
Het |
| Faap100 |
T |
C |
11: 120,265,185 (GRCm39) |
T564A |
probably damaging |
Het |
| Galc |
A |
G |
12: 98,179,355 (GRCm39) |
M518T |
probably benign |
Het |
| Gpatch8 |
A |
G |
11: 102,370,743 (GRCm39) |
Y932H |
unknown |
Het |
| Hace1 |
T |
A |
10: 45,547,230 (GRCm39) |
M471K |
probably benign |
Het |
| Irf2bpl |
T |
A |
12: 86,929,551 (GRCm39) |
D374V |
probably damaging |
Het |
| Lcor |
A |
G |
19: 41,571,488 (GRCm39) |
E227G |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,554,779 (GRCm39) |
V2623A |
probably benign |
Het |
| Or5ac24 |
A |
T |
16: 59,165,215 (GRCm39) |
L283Q |
probably damaging |
Het |
| Pex5l |
T |
A |
3: 33,047,152 (GRCm39) |
|
probably null |
Het |
| Pira13 |
T |
A |
7: 3,828,640 (GRCm39) |
M1L |
probably null |
Het |
| Plxnb1 |
T |
A |
9: 108,943,480 (GRCm39) |
S1908T |
probably damaging |
Het |
| Sgo2b |
T |
C |
8: 64,380,570 (GRCm39) |
Y754C |
probably damaging |
Het |
| She |
T |
A |
3: 89,739,231 (GRCm39) |
C141S |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,064,935 (GRCm39) |
L1455* |
probably null |
Het |
| Tfec |
T |
A |
6: 16,835,232 (GRCm39) |
H182L |
probably benign |
Het |
| Tgm6 |
T |
C |
2: 129,979,359 (GRCm39) |
V163A |
probably benign |
Het |
| Vmn2r88 |
G |
T |
14: 51,656,146 (GRCm39) |
C794F |
probably damaging |
Het |
| Zfp871 |
T |
C |
17: 32,994,407 (GRCm39) |
K256R |
probably damaging |
Het |
| Zfp998 |
A |
T |
13: 66,579,329 (GRCm39) |
C385S |
probably damaging |
Het |
|
| Other mutations in Or4a47 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00338:Or4a47
|
APN |
2 |
89,665,802 (GRCm39) |
nonsense |
probably null |
|
|
IGL01082:Or4a47
|
APN |
2 |
89,674,407 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01613:Or4a47
|
APN |
2 |
89,666,152 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01969:Or4a47
|
APN |
2 |
89,666,064 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02625:Or4a47
|
APN |
2 |
89,665,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0843:Or4a47
|
UTSW |
2 |
89,665,960 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1270:Or4a47
|
UTSW |
2 |
89,665,666 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1521:Or4a47
|
UTSW |
2 |
89,665,516 (GRCm39) |
nonsense |
probably null |
|
|
R2219:Or4a47
|
UTSW |
2 |
89,665,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3121:Or4a47
|
UTSW |
2 |
89,665,858 (GRCm39) |
missense |
probably benign |
|
|
R3609:Or4a47
|
UTSW |
2 |
89,665,420 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4984:Or4a47
|
UTSW |
2 |
89,666,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5153:Or4a47
|
UTSW |
2 |
89,665,578 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5640:Or4a47
|
UTSW |
2 |
89,666,282 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7198:Or4a47
|
UTSW |
2 |
89,666,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7862:Or4a47
|
UTSW |
2 |
89,665,468 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8100:Or4a47
|
UTSW |
2 |
89,666,029 (GRCm39) |
nonsense |
probably null |
|
|
R8487:Or4a47
|
UTSW |
2 |
89,665,609 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATACATCGGGGATCCCAGG -3'
(R):5'- CAGGTTCCACTCCAGACTTC -3'
Sequencing Primer
(F):5'- ATCCCAGGGCCTTGCTG -3'
(R):5'- GTTCCACTCCAGACTTCATGCAC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation