Incidental Mutation 'R1366:Or14j3'
| ID |
156052 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or14j3
|
| Ensembl Gene |
ENSMUSG00000062629 |
| Gene Name |
olfactory receptor family 14 subfamily J member 3 |
| Synonyms |
MOR218-10, GA_x6K02T2PSCP-2049802-2048870, Olfr114 |
| MMRRC Submission |
039431-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R1366 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
37900304-37901242 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37900655 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 196
(I196M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149735
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076914]
[ENSMUST00000214871]
[ENSMUST00000216249]
|
| AlphaFold |
Q923Q8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076914
AA Change: I196M
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000076181
Gene: ENSMUSG00000062629
AA Change: I196M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
2e-43 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
3.7e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
3e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214871
AA Change: I196M
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216249
AA Change: I196M
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.1%
- 10x: 92.3%
- 20x: 80.8%
|
| Validation Efficiency |
93% (43/46) |
| 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 |
|---|
| Aasdh |
A |
T |
5: 77,036,651 (GRCm39) |
S297T |
probably benign |
Het |
| Acsm1 |
T |
C |
7: 119,257,511 (GRCm39) |
|
probably benign |
Het |
| Ankar |
T |
A |
1: 72,737,808 (GRCm39) |
N125Y |
probably damaging |
Het |
| Ccdc121 |
T |
A |
5: 31,644,861 (GRCm39) |
C205S |
probably benign |
Het |
| Chd1l |
T |
C |
3: 97,488,465 (GRCm39) |
D517G |
probably damaging |
Het |
| Cir1 |
A |
T |
2: 73,136,757 (GRCm39) |
|
probably benign |
Het |
| Cpxm1 |
G |
A |
2: 130,238,042 (GRCm39) |
R136W |
probably damaging |
Het |
| Dnah10 |
A |
T |
5: 124,830,390 (GRCm39) |
E761D |
probably benign |
Het |
| Fam186a |
T |
A |
15: 99,841,270 (GRCm39) |
E1658V |
possibly damaging |
Het |
| Fam98a |
A |
G |
17: 75,846,381 (GRCm39) |
|
probably benign |
Het |
| Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
| Frmd6 |
T |
C |
12: 70,934,663 (GRCm39) |
|
probably benign |
Het |
| Gmpr2 |
T |
C |
14: 55,914,200 (GRCm39) |
|
probably benign |
Het |
| Hck |
G |
A |
2: 152,980,215 (GRCm39) |
G348D |
probably damaging |
Het |
| Ifnab |
T |
A |
4: 88,609,337 (GRCm39) |
Q43L |
possibly damaging |
Het |
| Ilkap |
A |
G |
1: 91,314,937 (GRCm39) |
I142T |
possibly damaging |
Het |
| Lamc3 |
T |
C |
2: 31,818,859 (GRCm39) |
S1206P |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Mid1 |
A |
C |
X: 168,769,090 (GRCm39) |
N215H |
probably damaging |
Het |
| Mkrn1 |
T |
C |
6: 39,382,851 (GRCm39) |
T134A |
probably benign |
Het |
| Mmp9 |
T |
A |
2: 164,795,262 (GRCm39) |
V628E |
probably damaging |
Het |
| Msi2 |
A |
T |
11: 88,607,406 (GRCm39) |
V67D |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,969,236 (GRCm39) |
V630E |
probably damaging |
Het |
| Nkain1 |
A |
G |
4: 130,537,316 (GRCm38) |
V73A |
probably damaging |
Het |
| Nphp4 |
T |
A |
4: 152,587,383 (GRCm39) |
D245E |
probably damaging |
Het |
| Or7a41 |
T |
G |
10: 78,870,876 (GRCm39) |
M82R |
probably damaging |
Het |
| Or9g8 |
G |
A |
2: 85,607,348 (GRCm39) |
C140Y |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,891,038 (GRCm39) |
|
probably benign |
Het |
| Plcxd1 |
A |
C |
5: 110,250,096 (GRCm39) |
I184L |
probably damaging |
Het |
| Prl3b1 |
G |
A |
13: 27,427,848 (GRCm39) |
A53T |
probably benign |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Scube2 |
A |
G |
7: 109,403,821 (GRCm39) |
Y890H |
probably damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,055,928 (GRCm39) |
|
probably null |
Het |
| Tnfaip2 |
T |
G |
12: 111,415,756 (GRCm39) |
F485V |
probably benign |
Het |
| Tpd52 |
T |
C |
3: 9,028,993 (GRCm39) |
D17G |
probably damaging |
Het |
| Ube4b |
T |
C |
4: 149,419,606 (GRCm39) |
D1034G |
probably damaging |
Het |
| Vmn2r118 |
G |
A |
17: 55,900,237 (GRCm39) |
Q556* |
probably null |
Het |
| Zftraf1 |
T |
C |
15: 76,533,169 (GRCm39) |
R190G |
probably damaging |
Het |
|
| Other mutations in Or14j3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01534:Or14j3
|
APN |
17 |
37,900,963 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01624:Or14j3
|
APN |
17 |
37,900,816 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02026:Or14j3
|
APN |
17 |
37,900,298 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02608:Or14j3
|
APN |
17 |
37,901,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02632:Or14j3
|
APN |
17 |
37,901,232 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02990:Or14j3
|
APN |
17 |
37,900,559 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0114:Or14j3
|
UTSW |
17 |
37,900,306 (GRCm39) |
makesense |
probably null |
|
|
R1156:Or14j3
|
UTSW |
17 |
37,900,408 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3413:Or14j3
|
UTSW |
17 |
37,900,587 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3701:Or14j3
|
UTSW |
17 |
37,900,717 (GRCm39) |
nonsense |
probably null |
|
|
R6122:Or14j3
|
UTSW |
17 |
37,900,817 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6639:Or14j3
|
UTSW |
17 |
37,900,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7066:Or14j3
|
UTSW |
17 |
37,901,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7316:Or14j3
|
UTSW |
17 |
37,901,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8340:Or14j3
|
UTSW |
17 |
37,901,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8483:Or14j3
|
UTSW |
17 |
37,900,866 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8555:Or14j3
|
UTSW |
17 |
37,900,540 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9442:Or14j3
|
UTSW |
17 |
37,900,633 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9617:Or14j3
|
UTSW |
17 |
37,901,053 (GRCm39) |
nonsense |
probably null |
|
|
R9718:Or14j3
|
UTSW |
17 |
37,900,914 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTAAAGCAGTTGGAAAGTCTGAGGTTG -3'
(R):5'- TCTCCACTATGAGATCATCATGTGTCCC -3'
Sequencing Primer
(F):5'- GGTTTAGATATGCAAAGATGCCTG -3'
(R):5'- CATCATGTGTCCCAGAAAGTG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation