Incidental Mutation 'IGL02874:Or4q3'
| ID |
362644 |
| 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 # |
IGL02874
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
50582833-50583897 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 50583583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 105
(H105Q)
|
| 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: H105Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000056851
Gene: ENSMUSG00000046210
AA Change: H105Q
| 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: H74Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| 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 |
|---|
| Atp8a2 |
A |
G |
14: 60,039,701 (GRCm39) |
Y876H |
probably damaging |
Het |
| Cfap65 |
G |
A |
1: 74,950,267 (GRCm39) |
Q1161* |
probably null |
Het |
| Chrd |
C |
T |
16: 20,553,946 (GRCm39) |
T282I |
probably damaging |
Het |
| Clasp1 |
T |
C |
1: 118,479,773 (GRCm39) |
S749P |
possibly damaging |
Het |
| Clec4a3 |
T |
A |
6: 122,944,519 (GRCm39) |
N188K |
probably benign |
Het |
| Dmpk |
A |
G |
7: 18,820,926 (GRCm39) |
M181V |
possibly damaging |
Het |
| Dnah7a |
A |
T |
1: 53,644,973 (GRCm39) |
M1021K |
possibly damaging |
Het |
| Exoc5 |
A |
T |
14: 49,288,903 (GRCm39) |
N48K |
probably benign |
Het |
| Golga1 |
A |
G |
2: 38,929,104 (GRCm39) |
L338P |
probably damaging |
Het |
| Hdc |
T |
A |
2: 126,443,596 (GRCm39) |
T334S |
probably benign |
Het |
| Idh2 |
A |
G |
7: 79,747,621 (GRCm39) |
S300P |
probably damaging |
Het |
| Igkv4-78 |
T |
C |
6: 69,037,190 (GRCm39) |
I7V |
probably benign |
Het |
| Impdh1 |
A |
T |
6: 29,203,155 (GRCm39) |
M389K |
probably damaging |
Het |
| Kcnd2 |
T |
A |
6: 21,216,922 (GRCm39) |
C209S |
probably damaging |
Het |
| Or11g25 |
G |
T |
14: 50,723,686 (GRCm39) |
C257F |
possibly damaging |
Het |
| Or56b2 |
C |
A |
7: 104,337,230 (GRCm39) |
Q3K |
probably benign |
Het |
| Ovol1 |
T |
C |
19: 5,601,209 (GRCm39) |
K194R |
probably damaging |
Het |
| Pcdh17 |
A |
T |
14: 84,685,680 (GRCm39) |
I716F |
possibly damaging |
Het |
| Pck1 |
T |
C |
2: 172,997,042 (GRCm39) |
I228T |
probably damaging |
Het |
| Pla2g2a |
T |
C |
4: 138,562,159 (GRCm39) |
F132L |
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,426,967 (GRCm39) |
V1086A |
probably damaging |
Het |
| Rasd2 |
T |
C |
8: 75,945,327 (GRCm39) |
I52T |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,809,806 (GRCm39) |
Y1185H |
probably damaging |
Het |
| Sema6c |
T |
G |
3: 95,077,688 (GRCm39) |
V441G |
probably damaging |
Het |
| Slc9a4 |
A |
T |
1: 40,623,198 (GRCm39) |
M146L |
probably benign |
Het |
| Thsd4 |
C |
T |
9: 60,160,013 (GRCm39) |
V358I |
probably damaging |
Het |
| Ttbk1 |
T |
C |
17: 46,781,151 (GRCm39) |
E474G |
probably benign |
Het |
| Ttbk2 |
T |
A |
2: 120,576,193 (GRCm39) |
D928V |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,641,522 (GRCm39) |
G11779S |
probably damaging |
Het |
| Wfdc6b |
T |
C |
2: 164,459,368 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Or4q3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01149:Or4q3
|
APN |
14 |
50,583,071 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation