Incidental Mutation 'IGL03281:Or12j5'
| ID |
415585 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or12j5
|
| Ensembl Gene |
ENSMUSG00000052508 |
| Gene Name |
olfactory receptor family 12 subfamily J member 5 |
| Synonyms |
MOR252-4, GA_x6K02T2PBJ9-42653501-42652578, Olfr536, MOR252-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
IGL03281
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
140080766-140087231 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 140083713 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 220
(I220F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064392]
[ENSMUST00000209873]
[ENSMUST00000215340]
[ENSMUST00000215768]
|
| AlphaFold |
Q8VFE9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064392
AA Change: I220F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067699
Gene: ENSMUSG00000052508
AA Change: I220F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
28 |
307 |
8.7e-48 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
304 |
5.4e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
289 |
3.4e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209873
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211326
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215340
AA Change: I220F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215768
AA Change: I220F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
G |
A |
11: 58,771,601 (GRCm39) |
R361H |
probably benign |
Het |
| Abcd2 |
G |
T |
15: 91,035,876 (GRCm39) |
T663K |
probably damaging |
Het |
| Btbd8 |
A |
T |
5: 107,651,742 (GRCm39) |
T212S |
probably benign |
Het |
| Bud23 |
C |
T |
5: 135,092,741 (GRCm39) |
R28H |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,320,256 (GRCm39) |
Y852C |
probably damaging |
Het |
| Dll1 |
C |
A |
17: 15,593,866 (GRCm39) |
R167L |
probably benign |
Het |
| Hmgxb4 |
A |
G |
8: 75,750,790 (GRCm39) |
T538A |
probably damaging |
Het |
| Hrh4 |
T |
C |
18: 13,155,526 (GRCm39) |
V355A |
possibly damaging |
Het |
| Hrnr |
A |
T |
3: 93,230,158 (GRCm39) |
E132V |
probably benign |
Het |
| Ighv7-1 |
A |
T |
12: 113,860,571 (GRCm39) |
|
probably benign |
Het |
| Kcnu1 |
A |
T |
8: 26,382,105 (GRCm39) |
Q485L |
probably null |
Het |
| Lrp1b |
T |
A |
2: 40,615,526 (GRCm39) |
M3626L |
probably benign |
Het |
| Magea6 |
G |
T |
X: 153,707,623 (GRCm39) |
C144* |
probably null |
Het |
| Map1a |
G |
T |
2: 121,135,541 (GRCm39) |
R1881L |
probably damaging |
Het |
| Naip2 |
T |
A |
13: 100,298,128 (GRCm39) |
Y636F |
probably damaging |
Het |
| Or6c2 |
T |
A |
10: 129,362,272 (GRCm39) |
F59I |
probably benign |
Het |
| Prg4 |
A |
G |
1: 150,325,839 (GRCm39) |
|
probably benign |
Het |
| Ptpn4 |
T |
G |
1: 119,587,642 (GRCm39) |
Q900H |
probably damaging |
Het |
| Ralgps1 |
A |
G |
2: 33,062,428 (GRCm39) |
|
probably null |
Het |
| Rasgrp4 |
C |
T |
7: 28,845,450 (GRCm39) |
A381V |
possibly damaging |
Het |
| Selenbp1 |
A |
T |
3: 94,844,621 (GRCm39) |
K93* |
probably null |
Het |
| Skint5 |
T |
A |
4: 113,524,415 (GRCm39) |
K855N |
unknown |
Het |
| Tssk4 |
T |
C |
14: 55,887,885 (GRCm39) |
V27A |
possibly damaging |
Het |
| Ttc39a |
C |
A |
4: 109,290,219 (GRCm39) |
Q310K |
possibly damaging |
Het |
| Utp18 |
C |
T |
11: 93,766,784 (GRCm39) |
V276I |
probably damaging |
Het |
| Vmn2r45 |
C |
A |
7: 8,486,603 (GRCm39) |
L228F |
probably damaging |
Het |
|
| Other mutations in Or12j5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01096:Or12j5
|
APN |
7 |
140,084,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02065:Or12j5
|
APN |
7 |
140,084,077 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02812:Or12j5
|
APN |
7 |
140,083,533 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02896:Or12j5
|
APN |
7 |
140,083,968 (GRCm39) |
splice site |
probably null |
|
|
R2440:Or12j5
|
UTSW |
7 |
140,083,465 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3110:Or12j5
|
UTSW |
7 |
140,083,832 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3112:Or12j5
|
UTSW |
7 |
140,083,832 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4349:Or12j5
|
UTSW |
7 |
140,084,270 (GRCm39) |
nonsense |
probably null |
|
|
R4660:Or12j5
|
UTSW |
7 |
140,083,933 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4827:Or12j5
|
UTSW |
7 |
140,083,583 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5606:Or12j5
|
UTSW |
7 |
140,083,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5607:Or12j5
|
UTSW |
7 |
140,084,318 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7102:Or12j5
|
UTSW |
7 |
140,084,229 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7354:Or12j5
|
UTSW |
7 |
140,084,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8081:Or12j5
|
UTSW |
7 |
140,084,369 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R8095:Or12j5
|
UTSW |
7 |
140,084,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8520:Or12j5
|
UTSW |
7 |
140,084,315 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8880:Or12j5
|
UTSW |
7 |
140,084,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9124:Or12j5
|
UTSW |
7 |
140,084,222 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Or12j5
|
UTSW |
7 |
140,083,718 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation