Incidental Mutation 'R3114:Or4a2'
| ID |
263922 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4a2
|
| Ensembl Gene |
ENSMUSG00000075088 |
| Gene Name |
olfactory receptor family 4 subfamily A member 2 |
| Synonyms |
GA_x6K02T2Q125-50861284-50860367, Olfr1239, MOR231-3 |
| MMRRC Submission |
040587-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R3114 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
89247838-89248755 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 89248757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097368
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099780]
[ENSMUST00000216762]
[ENSMUST00000217181]
|
| AlphaFold |
Q8VGM8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000099780
|
| SMART Domains |
Protein: ENSMUSP00000097368
Gene: ENSMUSG00000075088
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
1.5e-46 |
PFAM |
|
Pfam:7tm_1
|
39 |
285 |
3.7e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216762
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217181
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (33/33) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atf7 |
C |
T |
15: 102,442,858 (GRCm39) |
S417N |
probably benign |
Het |
| Cdt1 |
C |
T |
8: 123,297,221 (GRCm39) |
Q305* |
probably null |
Het |
| Cfap65 |
T |
A |
1: 74,966,291 (GRCm39) |
K345N |
probably damaging |
Het |
| Chrna3 |
C |
T |
9: 54,923,334 (GRCm39) |
C158Y |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,470,906 (GRCm39) |
E1314G |
possibly damaging |
Het |
| Col11a2 |
T |
G |
17: 34,265,442 (GRCm39) |
V276G |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 31,052,542 (GRCm39) |
S4346G |
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,345,772 (GRCm39) |
|
probably null |
Het |
| Espl1 |
T |
A |
15: 102,231,639 (GRCm39) |
F1945Y |
possibly damaging |
Het |
| Fzd5 |
A |
G |
1: 64,774,739 (GRCm39) |
F341L |
probably benign |
Het |
| Gm1587 |
T |
G |
14: 78,036,272 (GRCm39) |
E11D |
unknown |
Het |
| H3c3 |
C |
A |
13: 23,929,290 (GRCm39) |
R64L |
probably benign |
Het |
| Ighv5-1 |
A |
G |
12: 113,537,844 (GRCm39) |
|
probably benign |
Het |
| Klhl3 |
A |
G |
13: 58,198,841 (GRCm39) |
|
probably null |
Het |
| Klhl33 |
A |
T |
14: 51,128,972 (GRCm39) |
D752E |
possibly damaging |
Het |
| Krt24 |
T |
A |
11: 99,173,262 (GRCm39) |
T298S |
possibly damaging |
Het |
| Marchf1 |
A |
C |
8: 66,840,033 (GRCm39) |
H272P |
probably benign |
Het |
| Meak7 |
G |
A |
8: 120,495,056 (GRCm39) |
A234V |
probably benign |
Het |
| Mei1 |
C |
T |
15: 82,009,160 (GRCm39) |
A835V |
probably benign |
Het |
| Mier3 |
T |
A |
13: 111,843,182 (GRCm39) |
I178N |
probably damaging |
Het |
| Mlxipl |
A |
G |
5: 135,162,516 (GRCm39) |
|
probably benign |
Het |
| Mob3a |
A |
T |
10: 80,527,136 (GRCm39) |
V63E |
probably damaging |
Het |
| Nos3 |
C |
T |
5: 24,577,629 (GRCm39) |
|
probably benign |
Het |
| Pcdha11 |
T |
A |
18: 37,144,860 (GRCm39) |
I317K |
probably damaging |
Het |
| Pcdha4 |
T |
C |
18: 37,086,603 (GRCm39) |
V262A |
probably benign |
Het |
| Pde4d |
T |
A |
13: 110,084,792 (GRCm39) |
M519K |
probably damaging |
Het |
| Pds5a |
A |
G |
5: 65,776,328 (GRCm39) |
S89P |
probably damaging |
Het |
| Ptar1 |
T |
A |
19: 23,695,459 (GRCm39) |
C309S |
probably benign |
Het |
| Rint1 |
A |
G |
5: 24,024,418 (GRCm39) |
N682S |
probably benign |
Het |
| Rnmt |
A |
G |
18: 68,447,079 (GRCm39) |
E321G |
probably benign |
Het |
| Serpinb8 |
A |
G |
1: 107,535,023 (GRCm39) |
I365V |
probably benign |
Het |
| Sik1 |
T |
C |
17: 32,067,106 (GRCm39) |
T505A |
probably benign |
Het |
| Slfn10-ps |
T |
A |
11: 82,919,955 (GRCm39) |
|
noncoding transcript |
Het |
| Spmip8 |
T |
C |
8: 96,039,809 (GRCm39) |
|
probably null |
Het |
| Sspn |
A |
T |
6: 145,880,095 (GRCm39) |
I66F |
possibly damaging |
Het |
| Tsc22d1 |
T |
C |
14: 76,654,777 (GRCm39) |
S337P |
probably damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,811,860 (GRCm39) |
S1715P |
probably damaging |
Het |
|
| Other mutations in Or4a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03186:Or4a2
|
APN |
2 |
89,248,188 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4810001:Or4a2
|
UTSW |
2 |
89,248,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0271:Or4a2
|
UTSW |
2 |
89,248,502 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0521:Or4a2
|
UTSW |
2 |
89,248,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0667:Or4a2
|
UTSW |
2 |
89,248,032 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1738:Or4a2
|
UTSW |
2 |
89,248,362 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1955:Or4a2
|
UTSW |
2 |
89,248,755 (GRCm39) |
start codon destroyed |
probably damaging |
1.00 |
|
R4110:Or4a2
|
UTSW |
2 |
89,248,444 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4111:Or4a2
|
UTSW |
2 |
89,248,444 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4796:Or4a2
|
UTSW |
2 |
89,248,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4951:Or4a2
|
UTSW |
2 |
89,248,116 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5751:Or4a2
|
UTSW |
2 |
89,248,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6331:Or4a2
|
UTSW |
2 |
89,248,695 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7249:Or4a2
|
UTSW |
2 |
89,248,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7352:Or4a2
|
UTSW |
2 |
89,248,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7476:Or4a2
|
UTSW |
2 |
89,247,843 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7493:Or4a2
|
UTSW |
2 |
89,248,145 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7589:Or4a2
|
UTSW |
2 |
89,248,724 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9091:Or4a2
|
UTSW |
2 |
89,248,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9270:Or4a2
|
UTSW |
2 |
89,248,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9749:Or4a2
|
UTSW |
2 |
89,248,662 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGTTGAATACACAGCATCC -3'
(R):5'- ACACCATTGAATTTGGAGACTCC -3'
Sequencing Primer
(F):5'- GGTTGAATACACAGCATCCATAAATG -3'
(R):5'- CCATTGAATTTGGAGACTCCTATTTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation