Incidental Mutation 'IGL02316:Or4p23'
| ID |
288028 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or4p23
|
| Ensembl Gene |
ENSMUSG00000075117 |
| Gene Name |
olfactory receptor family 4 subfamily P member 23 |
| Synonyms |
GA_x6K02T2Q125-50221692-50220766, MOR225-13, Olfr1198 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
IGL02316
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
88576304-88577230 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88577187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 15
(F15S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099814]
[ENSMUST00000215179]
[ENSMUST00000215529]
|
| AlphaFold |
Q7TR12 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099814
AA Change: F15S
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097402
Gene: ENSMUSG00000075117
AA Change: F15S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
28 |
302 |
1.1e-49 |
PFAM |
|
Pfam:7tm_1
|
38 |
284 |
1e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215179
AA Change: F15S
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215529
AA Change: F15S
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c13 |
G |
T |
13: 4,253,458 (GRCm39) |
|
probably benign |
Het |
| Arhgap26 |
C |
T |
18: 38,775,599 (GRCm39) |
|
noncoding transcript |
Het |
| Atp5f1b |
T |
C |
10: 127,920,178 (GRCm39) |
V108A |
probably benign |
Het |
| B230307C23Rik |
G |
A |
16: 97,809,850 (GRCm39) |
V9M |
probably damaging |
Het |
| Ccdc85c |
T |
A |
12: 108,177,829 (GRCm39) |
H321L |
probably damaging |
Het |
| Diaph3 |
A |
T |
14: 87,223,551 (GRCm39) |
M321K |
possibly damaging |
Het |
| Dicer1 |
G |
A |
12: 104,668,812 (GRCm39) |
A1290V |
probably damaging |
Het |
| Dnah6 |
G |
A |
6: 73,145,894 (GRCm39) |
T839M |
probably benign |
Het |
| Eif3a |
G |
A |
19: 60,760,076 (GRCm39) |
|
probably benign |
Het |
| Eml1 |
T |
C |
12: 108,501,018 (GRCm39) |
|
probably benign |
Het |
| Exoc4 |
A |
G |
6: 33,887,519 (GRCm39) |
Q769R |
probably damaging |
Het |
| Fam184a |
T |
G |
10: 53,514,335 (GRCm39) |
T426P |
probably damaging |
Het |
| Fsip2 |
C |
A |
2: 82,809,137 (GRCm39) |
H1819N |
probably benign |
Het |
| Gm6686 |
T |
A |
17: 15,786,500 (GRCm39) |
|
probably benign |
Het |
| Hadha |
T |
C |
5: 30,331,565 (GRCm39) |
S464G |
probably benign |
Het |
| Ighv5-17 |
A |
T |
12: 113,822,775 (GRCm39) |
C115* |
probably null |
Het |
| Jmjd6 |
T |
C |
11: 116,733,928 (GRCm39) |
Y31C |
possibly damaging |
Het |
| Klrb1-ps1 |
G |
A |
6: 129,093,532 (GRCm39) |
|
noncoding transcript |
Het |
| Mgat1 |
T |
C |
11: 49,152,185 (GRCm39) |
Y223H |
probably damaging |
Het |
| Muc4 |
T |
C |
16: 32,569,668 (GRCm39) |
S243P |
possibly damaging |
Het |
| Numa1 |
T |
C |
7: 101,650,577 (GRCm39) |
L69P |
probably damaging |
Het |
| Or11h6 |
T |
C |
14: 50,879,744 (GRCm39) |
I2T |
probably benign |
Het |
| Or1j21 |
A |
T |
2: 36,683,632 (GRCm39) |
H128L |
probably damaging |
Het |
| Or1j4 |
C |
A |
2: 36,740,294 (GRCm39) |
P79T |
probably damaging |
Het |
| Pde1c |
A |
T |
6: 56,128,336 (GRCm39) |
D332E |
possibly damaging |
Het |
| Pitpnm1 |
A |
G |
19: 4,162,835 (GRCm39) |
I1143V |
probably benign |
Het |
| Rsl1 |
T |
A |
13: 67,325,120 (GRCm39) |
|
probably null |
Het |
| Scg2 |
A |
C |
1: 79,413,398 (GRCm39) |
L442V |
probably damaging |
Het |
| Sez6l |
A |
T |
5: 112,610,828 (GRCm39) |
V530E |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,200,489 (GRCm39) |
I4655T |
possibly damaging |
Het |
| Zcwpw1 |
T |
C |
5: 137,808,272 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Or4p23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02290:Or4p23
|
APN |
2 |
88,576,729 (GRCm39) |
missense |
probably benign |
|
|
R0726:Or4p23
|
UTSW |
2 |
88,576,352 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1439:Or4p23
|
UTSW |
2 |
88,577,178 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1706:Or4p23
|
UTSW |
2 |
88,576,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1757:Or4p23
|
UTSW |
2 |
88,576,361 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2202:Or4p23
|
UTSW |
2 |
88,576,953 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2203:Or4p23
|
UTSW |
2 |
88,576,953 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2204:Or4p23
|
UTSW |
2 |
88,576,953 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3085:Or4p23
|
UTSW |
2 |
88,576,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4901:Or4p23
|
UTSW |
2 |
88,577,231 (GRCm39) |
splice site |
probably null |
|
|
R4934:Or4p23
|
UTSW |
2 |
88,576,398 (GRCm39) |
nonsense |
probably null |
|
|
R5687:Or4p23
|
UTSW |
2 |
88,577,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6074:Or4p23
|
UTSW |
2 |
88,576,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6105:Or4p23
|
UTSW |
2 |
88,577,184 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6781:Or4p23
|
UTSW |
2 |
88,577,174 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8745:Or4p23
|
UTSW |
2 |
88,576,408 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9058:Or4p23
|
UTSW |
2 |
88,577,030 (GRCm39) |
missense |
|
|
|
R9264:Or4p23
|
UTSW |
2 |
88,576,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9355:Or4p23
|
UTSW |
2 |
88,576,749 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9660:Or4p23
|
UTSW |
2 |
88,576,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Or4p23
|
UTSW |
2 |
88,576,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation