Incidental Mutation 'IGL01149:Or4q3'
| ID |
52735 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or4q3
|
| Ensembl Gene |
ENSMUSG00000046210 |
| Gene Name |
olfactory receptor family 4 subfamily Q member 3 |
| Synonyms |
Olfr735, GA_x6K02T2PMLR-6042130-6041183, MOR243-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
IGL01149
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
50582833-50583897 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 50583071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 276
(A276E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049729]
[ENSMUST00000216634]
|
| AlphaFold |
Q7TRM4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049729
AA Change: A276E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000056851
Gene: ENSMUSG00000046210
AA Change: A276E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
9 |
28 |
N/A |
INTRINSIC |
|
Pfam:7tm_4
|
70 |
345 |
1.6e-49 |
PFAM |
|
Pfam:7tm_1
|
80 |
345 |
1.8e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206145
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206546
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216634
AA Change: A245E
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| Coding Region Coverage |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4632415L05Rik |
A |
G |
3: 19,949,276 (GRCm39) |
|
noncoding transcript |
Het |
| Aadacl4fm4 |
T |
C |
4: 144,400,349 (GRCm39) |
D143G |
probably benign |
Het |
| Adcy1 |
A |
C |
11: 7,087,385 (GRCm39) |
N420H |
probably damaging |
Het |
| Avp |
T |
C |
2: 130,422,593 (GRCm39) |
|
probably benign |
Het |
| B3galnt2 |
A |
T |
13: 14,155,270 (GRCm39) |
I216F |
probably benign |
Het |
| Cdc42bpa |
T |
C |
1: 179,902,137 (GRCm39) |
S465P |
probably damaging |
Het |
| Cdc42bpg |
T |
A |
19: 6,362,235 (GRCm39) |
|
probably benign |
Het |
| Cdcp2 |
T |
C |
4: 106,964,308 (GRCm39) |
F386S |
probably benign |
Het |
| Cdh4 |
A |
G |
2: 179,515,937 (GRCm39) |
T372A |
probably damaging |
Het |
| Clspn |
T |
G |
4: 126,466,971 (GRCm39) |
M612R |
probably damaging |
Het |
| Dll4 |
T |
C |
2: 119,161,590 (GRCm39) |
C391R |
probably damaging |
Het |
| Dll4 |
T |
C |
2: 119,163,226 (GRCm39) |
Y616H |
probably damaging |
Het |
| Exoc1 |
A |
G |
5: 76,690,091 (GRCm39) |
|
probably benign |
Het |
| F830045P16Rik |
A |
G |
2: 129,302,232 (GRCm39) |
|
probably null |
Het |
| Fhod1 |
A |
G |
8: 106,074,439 (GRCm39) |
|
probably benign |
Het |
| Fign |
T |
C |
2: 63,810,104 (GRCm39) |
R389G |
possibly damaging |
Het |
| Gm13941 |
T |
A |
2: 110,931,482 (GRCm39) |
E50V |
unknown |
Het |
| Kit |
C |
T |
5: 75,771,536 (GRCm39) |
T231M |
probably damaging |
Het |
| Neu3 |
T |
C |
7: 99,463,087 (GRCm39) |
H212R |
probably benign |
Het |
| Nup214 |
G |
T |
2: 31,924,712 (GRCm39) |
S1747I |
probably damaging |
Het |
| Or4f4b |
T |
C |
2: 111,314,446 (GRCm39) |
S224P |
probably damaging |
Het |
| Or8b12i |
G |
T |
9: 20,082,826 (GRCm39) |
L14I |
probably damaging |
Het |
| Secisbp2 |
T |
C |
13: 51,830,491 (GRCm39) |
|
probably null |
Het |
| Slc26a10 |
G |
A |
10: 127,010,046 (GRCm39) |
|
probably benign |
Het |
| Slc7a6 |
T |
C |
8: 106,906,232 (GRCm39) |
S155P |
probably damaging |
Het |
| Slf1 |
A |
T |
13: 77,260,767 (GRCm39) |
I173N |
probably damaging |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Tkfc |
A |
G |
19: 10,578,015 (GRCm39) |
L38P |
probably damaging |
Het |
| Tubgcp4 |
A |
G |
2: 121,015,264 (GRCm39) |
D324G |
probably null |
Het |
| Zfyve16 |
T |
C |
13: 92,644,791 (GRCm39) |
H1137R |
probably damaging |
Het |
|
| Other mutations in Or4q3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01655:Or4q3
|
APN |
14 |
50,583,641 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02838:Or4q3
|
APN |
14 |
50,583,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02874:Or4q3
|
APN |
14 |
50,583,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0609:Or4q3
|
UTSW |
14 |
50,583,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0724:Or4q3
|
UTSW |
14 |
50,583,374 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0839:Or4q3
|
UTSW |
14 |
50,583,545 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1766:Or4q3
|
UTSW |
14 |
50,583,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1799:Or4q3
|
UTSW |
14 |
50,583,537 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4934:Or4q3
|
UTSW |
14 |
50,583,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5753:Or4q3
|
UTSW |
14 |
50,583,045 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5996:Or4q3
|
UTSW |
14 |
50,582,969 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6555:Or4q3
|
UTSW |
14 |
50,583,303 (GRCm39) |
nonsense |
probably null |
|
|
R6736:Or4q3
|
UTSW |
14 |
50,582,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7841:Or4q3
|
UTSW |
14 |
50,583,285 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7922:Or4q3
|
UTSW |
14 |
50,583,872 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8190:Or4q3
|
UTSW |
14 |
50,583,179 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8308:Or4q3
|
UTSW |
14 |
50,582,922 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8560:Or4q3
|
UTSW |
14 |
50,583,794 (GRCm39) |
missense |
probably benign |
0.12 |
|
X0019:Or4q3
|
UTSW |
14 |
50,583,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation