Incidental Mutation 'R5080:Or5j3'
| ID |
387064 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5j3
|
| Ensembl Gene |
ENSMUSG00000047149 |
| Gene Name |
olfactory receptor family 5 subfamily J member 3 |
| Synonyms |
GA_x6K02T2Q125-47777498-47778436, Olfr1052, MOR172-1 |
| MMRRC Submission |
042669-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R5080 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
86128162-86129100 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 86128258 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 33
(V33M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054746]
[ENSMUST00000215090]
[ENSMUST00000217166]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054746
AA Change: V33M
PolyPhen 2
Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000058454
Gene: ENSMUSG00000047149
AA Change: V33M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
1.3e-51 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
6.9e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215090
AA Change: V33M
PolyPhen 2
Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217166
AA Change: V33M
PolyPhen 2
Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.1796 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.5%
|
| Validation Efficiency |
96% (54/56) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
G |
A |
14: 103,286,744 (GRCm39) |
G16S |
possibly damaging |
Het |
| Adcy4 |
A |
T |
14: 56,009,832 (GRCm39) |
M740K |
probably damaging |
Het |
| Atp1a2 |
T |
C |
1: 172,112,012 (GRCm39) |
|
probably benign |
Het |
| Atrn |
T |
A |
2: 130,812,044 (GRCm39) |
I663N |
possibly damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,567,394 (GRCm39) |
|
probably null |
Het |
| Carf |
C |
A |
1: 60,189,772 (GRCm39) |
Q631K |
probably damaging |
Het |
| Ces1d |
T |
C |
8: 93,908,175 (GRCm39) |
D306G |
probably benign |
Het |
| Corin |
T |
A |
5: 72,511,194 (GRCm39) |
|
probably benign |
Het |
| Csf1r |
T |
C |
18: 61,257,373 (GRCm39) |
F575L |
probably damaging |
Het |
| Dcaf6 |
T |
C |
1: 165,247,690 (GRCm39) |
D181G |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 118,162,565 (GRCm39) |
M1I |
probably null |
Het |
| Dnah7b |
C |
T |
1: 46,221,540 (GRCm39) |
R1215* |
probably null |
Het |
| Dpp3 |
T |
A |
19: 4,965,108 (GRCm39) |
D464V |
probably benign |
Het |
| Drosha |
C |
A |
15: 12,842,229 (GRCm39) |
A344D |
probably benign |
Het |
| Fat3 |
G |
T |
9: 15,910,634 (GRCm39) |
S1789R |
probably benign |
Het |
| Fhip2a |
A |
T |
19: 57,361,713 (GRCm39) |
K134I |
probably damaging |
Het |
| Frg2f1 |
T |
C |
4: 119,388,230 (GRCm39) |
T90A |
possibly damaging |
Het |
| Frrs1 |
T |
C |
3: 116,696,585 (GRCm39) |
I544T |
probably benign |
Het |
| Gm20939 |
T |
C |
17: 95,184,419 (GRCm39) |
C356R |
probably damaging |
Het |
| Ifi206 |
T |
A |
1: 173,301,414 (GRCm39) |
I755F |
possibly damaging |
Het |
| Kntc1 |
T |
A |
5: 123,900,649 (GRCm39) |
V249E |
possibly damaging |
Het |
| Lama5 |
A |
T |
2: 179,848,993 (GRCm39) |
L230* |
probably null |
Het |
| Lce1e |
C |
T |
3: 92,615,137 (GRCm39) |
C70Y |
unknown |
Het |
| Ltbp2 |
T |
C |
12: 84,850,638 (GRCm39) |
N892S |
probably damaging |
Het |
| Mfsd4b5 |
T |
A |
10: 39,846,570 (GRCm39) |
M337L |
probably damaging |
Het |
| Noxo1 |
T |
A |
17: 24,918,331 (GRCm39) |
C164S |
probably damaging |
Het |
| Or2y1b |
G |
T |
11: 49,208,914 (GRCm39) |
M180I |
probably benign |
Het |
| Osbpl6 |
T |
C |
2: 76,354,429 (GRCm39) |
S15P |
probably benign |
Het |
| Pcdh17 |
A |
G |
14: 84,770,750 (GRCm39) |
Y1076C |
probably benign |
Het |
| Pik3c2a |
T |
A |
7: 115,947,509 (GRCm39) |
H1391L |
probably damaging |
Het |
| Plcg2 |
A |
G |
8: 118,316,742 (GRCm39) |
Y573C |
probably benign |
Het |
| Prpf3 |
T |
A |
3: 95,741,109 (GRCm39) |
H600L |
probably benign |
Het |
| Rilpl2 |
T |
C |
5: 124,607,876 (GRCm39) |
T115A |
probably benign |
Het |
| Rpl15-ps6 |
A |
G |
15: 52,341,446 (GRCm39) |
|
noncoding transcript |
Het |
| Serpini1 |
T |
C |
3: 75,523,967 (GRCm39) |
S192P |
probably damaging |
Het |
| Sp110 |
G |
T |
1: 85,523,776 (GRCm39) |
Y18* |
probably null |
Het |
| Stard6 |
A |
T |
18: 70,629,293 (GRCm39) |
I126F |
probably damaging |
Het |
| Strip2 |
T |
A |
6: 29,945,592 (GRCm39) |
L660H |
probably damaging |
Het |
| Tmed3 |
G |
A |
9: 89,581,825 (GRCm39) |
R213* |
probably null |
Het |
| Tns1 |
G |
T |
1: 73,992,099 (GRCm39) |
P860T |
probably damaging |
Het |
| Togaram1 |
T |
C |
12: 65,030,177 (GRCm39) |
S994P |
probably benign |
Het |
| Tomm34 |
G |
A |
2: 163,912,816 (GRCm39) |
|
probably benign |
Het |
| Trank1 |
G |
A |
9: 111,218,289 (GRCm39) |
E1890K |
probably damaging |
Het |
| Wasf3 |
C |
T |
5: 146,397,907 (GRCm39) |
H225Y |
probably benign |
Het |
| Wdr37 |
A |
T |
13: 8,897,710 (GRCm39) |
|
probably null |
Het |
| Zbtb7c |
A |
C |
18: 76,270,413 (GRCm39) |
D167A |
probably benign |
Het |
| Zkscan4 |
A |
G |
13: 21,665,498 (GRCm39) |
T158A |
probably benign |
Het |
|
| Other mutations in Or5j3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02632:Or5j3
|
APN |
2 |
86,128,904 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02988:Or5j3
|
UTSW |
2 |
86,128,823 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0382:Or5j3
|
UTSW |
2 |
86,128,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0569:Or5j3
|
UTSW |
2 |
86,128,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1476:Or5j3
|
UTSW |
2 |
86,128,823 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1510:Or5j3
|
UTSW |
2 |
86,128,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1667:Or5j3
|
UTSW |
2 |
86,129,080 (GRCm39) |
missense |
probably null |
0.02 |
|
R2912:Or5j3
|
UTSW |
2 |
86,128,733 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2913:Or5j3
|
UTSW |
2 |
86,128,733 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3937:Or5j3
|
UTSW |
2 |
86,128,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4299:Or5j3
|
UTSW |
2 |
86,128,585 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4774:Or5j3
|
UTSW |
2 |
86,129,042 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5027:Or5j3
|
UTSW |
2 |
86,128,540 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5254:Or5j3
|
UTSW |
2 |
86,128,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5389:Or5j3
|
UTSW |
2 |
86,128,561 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6110:Or5j3
|
UTSW |
2 |
86,129,019 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6492:Or5j3
|
UTSW |
2 |
86,128,990 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6810:Or5j3
|
UTSW |
2 |
86,128,267 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7095:Or5j3
|
UTSW |
2 |
86,129,021 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7104:Or5j3
|
UTSW |
2 |
86,128,564 (GRCm39) |
missense |
probably benign |
|
|
R7320:Or5j3
|
UTSW |
2 |
86,128,338 (GRCm39) |
frame shift |
probably null |
|
|
R7328:Or5j3
|
UTSW |
2 |
86,128,338 (GRCm39) |
frame shift |
probably null |
|
|
R7363:Or5j3
|
UTSW |
2 |
86,128,338 (GRCm39) |
frame shift |
probably null |
|
|
R8048:Or5j3
|
UTSW |
2 |
86,128,672 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8202:Or5j3
|
UTSW |
2 |
86,128,968 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8968:Or5j3
|
UTSW |
2 |
86,128,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9160:Or5j3
|
UTSW |
2 |
86,128,330 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9321:Or5j3
|
UTSW |
2 |
86,128,297 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9694:Or5j3
|
UTSW |
2 |
86,128,718 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1176:Or5j3
|
UTSW |
2 |
86,128,570 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCTTGAATTTAATAAACACCAAGT -3'
(R):5'- TGGTAACCAGCACTCCGAAA -3'
Sequencing Primer
(F):5'- GGCTACTGAGAACTGTACA -3'
(R):5'- GAGATGGTTTCTGTTACTACCAAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation