Incidental Mutation 'IGL01806:Or52z14'
| ID |
155669 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or52z14
|
| Ensembl Gene |
ENSMUSG00000073944 |
| Gene Name |
olfactory receptor family 52 subfamily Z member 14 |
| Synonyms |
MOR31-5, Olfr619, GA_x6K02T2PBJ9-6326488-6327450 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
IGL01806
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
103252796-103253919 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 103253548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 229
(A229V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098196]
[ENSMUST00000214883]
[ENSMUST00000215732]
[ENSMUST00000217603]
|
| AlphaFold |
E9PV95 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098196
AA Change: A229V
PolyPhen 2
Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000095798
Gene: ENSMUSG00000073944
AA Change: A229V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
36 |
316 |
4.4e-106 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
40 |
265 |
5e-10 |
PFAM |
|
Pfam:7tm_1
|
46 |
298 |
3.2e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214883
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215732
AA Change: A229V
PolyPhen 2
Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215752
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217603
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg1 |
T |
C |
8: 95,739,559 (GRCm39) |
S670P |
probably damaging |
Het |
| Ap5m1 |
T |
A |
14: 49,317,797 (GRCm39) |
F351L |
probably damaging |
Het |
| Cacnb2 |
A |
G |
2: 14,619,079 (GRCm39) |
Y38C |
probably damaging |
Het |
| Ccdc28a |
C |
T |
10: 18,095,262 (GRCm39) |
A151T |
possibly damaging |
Het |
| Cgnl1 |
T |
C |
9: 71,557,604 (GRCm39) |
E976G |
probably damaging |
Het |
| Cyp2c39 |
A |
G |
19: 39,525,264 (GRCm39) |
Y189C |
probably damaging |
Het |
| Dbt |
T |
C |
3: 116,326,954 (GRCm39) |
V101A |
probably damaging |
Het |
| Evc |
A |
G |
5: 37,477,578 (GRCm39) |
|
probably null |
Het |
| Fastkd5 |
A |
G |
2: 130,457,532 (GRCm39) |
Y353H |
probably benign |
Het |
| Gm6408 |
G |
A |
5: 146,418,892 (GRCm39) |
R30H |
probably damaging |
Het |
| Lhx8 |
A |
G |
3: 154,027,992 (GRCm39) |
S156P |
probably damaging |
Het |
| Mki67 |
T |
C |
7: 135,300,686 (GRCm39) |
I1449M |
probably damaging |
Het |
| Mtrr |
A |
T |
13: 68,728,719 (GRCm39) |
V27E |
possibly damaging |
Het |
| Myh14 |
A |
G |
7: 44,307,363 (GRCm39) |
V226A |
probably benign |
Het |
| Nek1 |
T |
C |
8: 61,577,246 (GRCm39) |
S1076P |
possibly damaging |
Het |
| Or6ae1 |
G |
T |
7: 139,742,841 (GRCm39) |
N7K |
probably benign |
Het |
| Pcdhb7 |
A |
G |
18: 37,475,548 (GRCm39) |
D228G |
possibly damaging |
Het |
| Pias3 |
T |
C |
3: 96,611,073 (GRCm39) |
S414P |
probably benign |
Het |
| Plcd4 |
G |
A |
1: 74,591,192 (GRCm39) |
V196I |
probably benign |
Het |
| Proca1 |
A |
G |
11: 78,095,737 (GRCm39) |
D123G |
probably damaging |
Het |
| Ptpn3 |
A |
G |
4: 57,254,915 (GRCm39) |
|
probably null |
Het |
| Ptprq |
C |
A |
10: 107,535,469 (GRCm39) |
R432L |
probably damaging |
Het |
| Rasgrp4 |
A |
G |
7: 28,838,475 (GRCm39) |
K108E |
possibly damaging |
Het |
| Siglecg |
A |
G |
7: 43,060,888 (GRCm39) |
|
probably null |
Het |
| Srpra |
A |
G |
9: 35,126,201 (GRCm39) |
T465A |
possibly damaging |
Het |
| Tmpo |
G |
A |
10: 90,999,104 (GRCm39) |
R228C |
probably benign |
Het |
| Zeb1 |
G |
A |
18: 5,767,867 (GRCm39) |
V793M |
possibly damaging |
Het |
|
| Other mutations in Or52z14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01610:Or52z14
|
APN |
7 |
103,253,274 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL01934:Or52z14
|
APN |
7 |
103,253,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02269:Or52z14
|
APN |
7 |
103,253,089 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03049:Or52z14
|
APN |
7 |
103,253,298 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03165:Or52z14
|
APN |
7 |
103,253,218 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03338:Or52z14
|
APN |
7 |
103,253,615 (GRCm39) |
nonsense |
probably null |
|
|
R1378:Or52z14
|
UTSW |
7 |
103,253,145 (GRCm39) |
nonsense |
probably null |
|
|
R1660:Or52z14
|
UTSW |
7 |
103,252,882 (GRCm39) |
nonsense |
probably null |
|
|
R1975:Or52z14
|
UTSW |
7 |
103,253,219 (GRCm39) |
splice site |
probably null |
|
|
R1985:Or52z14
|
UTSW |
7 |
103,252,879 (GRCm39) |
missense |
probably benign |
|
|
R2249:Or52z14
|
UTSW |
7 |
103,252,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2423:Or52z14
|
UTSW |
7 |
103,253,241 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4005:Or52z14
|
UTSW |
7 |
103,253,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4931:Or52z14
|
UTSW |
7 |
103,253,581 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4939:Or52z14
|
UTSW |
7 |
103,253,458 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4942:Or52z14
|
UTSW |
7 |
103,253,401 (GRCm39) |
missense |
probably benign |
|
|
R4970:Or52z14
|
UTSW |
7 |
103,253,197 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4993:Or52z14
|
UTSW |
7 |
103,252,863 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
|
R5254:Or52z14
|
UTSW |
7 |
103,252,996 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6001:Or52z14
|
UTSW |
7 |
103,253,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6905:Or52z14
|
UTSW |
7 |
103,253,574 (GRCm39) |
missense |
probably benign |
|
|
R6985:Or52z14
|
UTSW |
7 |
103,252,875 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8253:Or52z14
|
UTSW |
7 |
103,253,538 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9124:Or52z14
|
UTSW |
7 |
103,252,863 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
|
| Posted On |
2014-02-04 |
Incidental Mutation