Incidental Mutation 'R0055:Or2j3'
| ID |
15847 |
| 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 |
038349-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.432)
|
| Stock # |
R0055 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
38615412-38616350 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38615702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 217
(S217G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150173
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057394]
[ENSMUST00000213505]
|
| AlphaFold |
Q8VFC2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057394
AA Change: S217G
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000051537
Gene: ENSMUSG00000054940
AA Change: S217G
| 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 |
possibly damaging
Transcript: ENSMUST00000213505
AA Change: S217G
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 89.7%
- 3x: 87.2%
- 10x: 80.9%
- 20x: 71.2%
|
| Validation Efficiency |
85% (52/61) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,547,057 (GRCm39) |
|
probably benign |
Het |
| Atp6v1h |
A |
T |
1: 5,154,677 (GRCm39) |
T2S |
probably benign |
Het |
| BC034090 |
A |
T |
1: 155,117,404 (GRCm39) |
L238Q |
probably damaging |
Het |
| Ccdc61 |
T |
C |
7: 18,626,461 (GRCm39) |
D128G |
probably damaging |
Het |
| Cfap96 |
A |
T |
8: 46,421,198 (GRCm39) |
S108R |
probably damaging |
Het |
| Dennd5a |
A |
G |
7: 109,498,998 (GRCm39) |
I955T |
possibly damaging |
Het |
| Ephx4 |
T |
C |
5: 107,560,944 (GRCm39) |
L32S |
probably damaging |
Het |
| Fbxo21 |
T |
A |
5: 118,138,555 (GRCm39) |
D493E |
probably benign |
Het |
| Frmd4b |
A |
T |
6: 97,300,610 (GRCm39) |
|
probably benign |
Het |
| Fzd1 |
A |
T |
5: 4,806,037 (GRCm39) |
M515K |
possibly damaging |
Het |
| Gli2 |
A |
G |
1: 118,818,138 (GRCm39) |
|
probably benign |
Het |
| Gm12887 |
T |
A |
4: 121,473,666 (GRCm39) |
K61N |
probably damaging |
Het |
| Grin2a |
A |
T |
16: 9,487,671 (GRCm39) |
V409D |
probably damaging |
Het |
| Grin2b |
T |
C |
6: 135,900,201 (GRCm39) |
I227V |
probably benign |
Het |
| Helz2 |
T |
G |
2: 180,870,614 (GRCm39) |
D2879A |
possibly damaging |
Het |
| Itpr2 |
T |
C |
6: 146,224,631 (GRCm39) |
N1453S |
probably benign |
Het |
| Lin7c |
T |
A |
2: 109,726,798 (GRCm39) |
|
probably benign |
Het |
| Ly75 |
T |
C |
2: 60,152,262 (GRCm39) |
E1097G |
probably benign |
Het |
| Mcm10 |
T |
C |
2: 4,996,218 (GRCm39) |
N882D |
probably damaging |
Het |
| Mybph |
G |
T |
1: 134,121,590 (GRCm39) |
V88L |
probably damaging |
Het |
| Nefm |
T |
A |
14: 68,358,648 (GRCm39) |
|
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,362,377 (GRCm39) |
E1497G |
probably damaging |
Het |
| Or51ah3 |
A |
G |
7: 103,210,244 (GRCm39) |
K187E |
probably damaging |
Het |
| Or52e18 |
T |
A |
7: 104,609,703 (GRCm39) |
T79S |
possibly damaging |
Het |
| Phf8-ps |
A |
T |
17: 33,285,696 (GRCm39) |
W369R |
probably damaging |
Het |
| Plcd3 |
C |
G |
11: 102,968,411 (GRCm39) |
W382S |
probably damaging |
Het |
| Plxna1 |
T |
A |
6: 89,306,721 (GRCm39) |
I1370F |
possibly damaging |
Het |
| Qng1 |
T |
C |
13: 58,531,980 (GRCm39) |
D192G |
probably damaging |
Het |
| Rarb |
G |
A |
14: 16,509,066 (GRCm38) |
R106C |
probably damaging |
Het |
| Rps6ka5 |
G |
A |
12: 100,644,839 (GRCm39) |
T37I |
probably damaging |
Het |
| Scube1 |
A |
G |
15: 83,518,937 (GRCm39) |
V301A |
probably damaging |
Het |
| Slc25a45 |
T |
C |
19: 5,930,495 (GRCm39) |
F3L |
probably damaging |
Het |
| Slfn10-ps |
A |
G |
11: 82,921,126 (GRCm39) |
|
noncoding transcript |
Het |
| Slit2 |
C |
A |
5: 48,439,068 (GRCm39) |
C1077* |
probably null |
Het |
| Ucp1 |
G |
T |
8: 84,017,233 (GRCm39) |
E8* |
probably null |
Het |
| Zdhhc11 |
C |
T |
13: 74,130,805 (GRCm39) |
Q295* |
probably null |
Het |
| Zfp457 |
T |
A |
13: 67,442,098 (GRCm39) |
H63L |
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 |
|
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 |
|
R1126:Or2j3
|
UTSW |
17 |
38,615,579 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
| Posted On |
2013-01-08 |
Incidental Mutation