Incidental Mutation 'R1126:Or2j3'
ID |
96233 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or2j3
|
Ensembl Gene |
ENSMUSG00000054940 |
Gene Name |
olfactory receptor family 2 subfamily J member 3 |
Synonyms |
Olfr137, MOR256-18, GA_x6K02T2PSCP-2749525-2748587 |
MMRRC Submission |
039199-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.469)
|
Stock # |
R1126 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
38615412-38616350 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 38615579 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 258
(C258R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150173
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057394]
[ENSMUST00000213505]
|
AlphaFold |
Q8VFC2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057394
AA Change: C258R
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000051537 Gene: ENSMUSG00000054940 AA Change: C258R
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
32 |
308 |
4e-49 |
PFAM |
Pfam:7tm_1
|
42 |
291 |
4.5e-28 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000213505
AA Change: C258R
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.6%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
T |
C |
7: 45,759,062 (GRCm39) |
E1226G |
probably damaging |
Het |
Arhgef40 |
G |
T |
14: 52,234,583 (GRCm39) |
S962I |
probably damaging |
Het |
Atp9b |
A |
T |
18: 80,822,169 (GRCm39) |
M477K |
probably damaging |
Het |
Enpp2 |
C |
T |
15: 54,770,222 (GRCm39) |
|
probably null |
Het |
Ephb3 |
T |
A |
16: 21,041,226 (GRCm39) |
M727K |
possibly damaging |
Het |
Exo5 |
A |
T |
4: 120,779,322 (GRCm39) |
I181N |
probably damaging |
Het |
Fbn1 |
T |
C |
2: 125,163,112 (GRCm39) |
|
probably null |
Het |
Gas6 |
T |
C |
8: 13,533,700 (GRCm39) |
N103S |
probably benign |
Het |
Gm11596 |
A |
T |
11: 99,683,699 (GRCm39) |
C140* |
probably null |
Het |
Il6st |
T |
C |
13: 112,640,266 (GRCm39) |
Y681H |
probably damaging |
Het |
Itih4 |
T |
C |
14: 30,611,918 (GRCm39) |
|
probably null |
Het |
Kdm5b |
C |
T |
1: 134,541,729 (GRCm39) |
A768V |
possibly damaging |
Het |
Krt87 |
A |
T |
15: 101,385,363 (GRCm39) |
N336K |
probably damaging |
Het |
Mfsd6 |
A |
G |
1: 52,748,670 (GRCm39) |
V65A |
probably benign |
Het |
Nipsnap1 |
A |
G |
11: 4,834,081 (GRCm39) |
N90S |
probably benign |
Het |
Nlrp9a |
C |
A |
7: 26,260,166 (GRCm39) |
D640E |
probably benign |
Het |
Or11h4b |
C |
T |
14: 50,918,720 (GRCm39) |
A124T |
possibly damaging |
Het |
Or1l4 |
A |
T |
2: 37,092,113 (GRCm39) |
M287L |
probably benign |
Het |
Or5p53 |
A |
C |
7: 107,533,578 (GRCm39) |
M284L |
possibly damaging |
Het |
Parp9 |
G |
A |
16: 35,768,110 (GRCm39) |
V97I |
possibly damaging |
Het |
Pdzd2 |
T |
C |
15: 12,458,306 (GRCm39) |
T12A |
possibly damaging |
Het |
Penk |
T |
C |
4: 4,138,119 (GRCm39) |
T9A |
probably benign |
Het |
Pilrb2 |
T |
C |
5: 137,869,222 (GRCm39) |
D126G |
probably damaging |
Het |
Pkdrej |
A |
T |
15: 85,700,515 (GRCm39) |
V1807E |
probably damaging |
Het |
Ppp1r9a |
A |
G |
6: 4,906,795 (GRCm39) |
E450G |
possibly damaging |
Het |
Rag1 |
T |
C |
2: 101,473,034 (GRCm39) |
R703G |
probably damaging |
Het |
Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
Rmdn3 |
T |
C |
2: 118,984,476 (GRCm39) |
D92G |
probably benign |
Het |
Rp1l1 |
G |
A |
14: 64,267,918 (GRCm39) |
G1168D |
probably damaging |
Het |
Saxo1 |
T |
A |
4: 86,397,224 (GRCm39) |
T105S |
probably benign |
Het |
Slc39a2 |
G |
A |
14: 52,131,602 (GRCm39) |
G58R |
probably damaging |
Het |
Tbx6 |
C |
T |
7: 126,383,891 (GRCm39) |
T315I |
probably damaging |
Het |
Tcf12 |
A |
G |
9: 71,907,715 (GRCm39) |
M99T |
probably benign |
Het |
Tdrd3 |
A |
G |
14: 87,718,210 (GRCm39) |
D197G |
probably damaging |
Het |
Tnc |
T |
C |
4: 63,936,357 (GRCm39) |
N193S |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,680,347 (GRCm39) |
|
probably benign |
Het |
Vmn1r225 |
A |
G |
17: 20,722,588 (GRCm39) |
I10V |
probably benign |
Het |
Zp3r |
A |
G |
1: 130,546,079 (GRCm39) |
L77P |
probably damaging |
Het |
|
Other mutations in Or2j3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02131:Or2j3
|
APN |
17 |
38,615,539 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03169:Or2j3
|
APN |
17 |
38,615,992 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03392:Or2j3
|
APN |
17 |
38,615,786 (GRCm39) |
missense |
probably benign |
0.02 |
R0055:Or2j3
|
UTSW |
17 |
38,615,702 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0055:Or2j3
|
UTSW |
17 |
38,615,702 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0496:Or2j3
|
UTSW |
17 |
38,615,549 (GRCm39) |
missense |
probably damaging |
0.99 |
R0761:Or2j3
|
UTSW |
17 |
38,616,282 (GRCm39) |
missense |
probably benign |
0.00 |
R1835:Or2j3
|
UTSW |
17 |
38,616,203 (GRCm39) |
missense |
probably benign |
0.02 |
R3727:Or2j3
|
UTSW |
17 |
38,616,310 (GRCm39) |
missense |
possibly damaging |
0.64 |
R5556:Or2j3
|
UTSW |
17 |
38,615,964 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5979:Or2j3
|
UTSW |
17 |
38,616,083 (GRCm39) |
missense |
probably benign |
|
R6430:Or2j3
|
UTSW |
17 |
38,616,249 (GRCm39) |
missense |
probably benign |
0.04 |
R6433:Or2j3
|
UTSW |
17 |
38,616,304 (GRCm39) |
missense |
probably damaging |
1.00 |
R7400:Or2j3
|
UTSW |
17 |
38,616,222 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8053:Or2j3
|
UTSW |
17 |
38,616,101 (GRCm39) |
missense |
probably benign |
|
R8199:Or2j3
|
UTSW |
17 |
38,615,444 (GRCm39) |
missense |
probably benign |
0.31 |
R8446:Or2j3
|
UTSW |
17 |
38,615,638 (GRCm39) |
missense |
probably benign |
0.01 |
R8865:Or2j3
|
UTSW |
17 |
38,615,872 (GRCm39) |
missense |
probably damaging |
0.97 |
R9116:Or2j3
|
UTSW |
17 |
38,615,654 (GRCm39) |
missense |
probably benign |
0.01 |
R9756:Or2j3
|
UTSW |
17 |
38,615,971 (GRCm39) |
missense |
probably benign |
0.13 |
|
Predicted Primers |
PCR Primer
(F):5'- AGACTGCACAGTGGGAGGCTTATC -3'
(R):5'- CAGCATCCTGGGTATGTGGCTTTAC -3'
Sequencing Primer
(F):5'- ACAGTGGGAGGCTTATCTCATTTC -3'
(R):5'- GCAAAGTAGACCACTTCTTCTGTG -3'
|
Posted On |
2014-01-05 |