Incidental Mutation 'R2360:Or14j6'
ID |
247135 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or14j6
|
Ensembl Gene |
ENSMUSG00000058114 |
Gene Name |
olfactory receptor family 14 subfamily J member 6 |
Synonyms |
MOR218-7, Olfr127, GA_x6K02T2PSCP-2354126-2355093 |
MMRRC Submission |
040342-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R2360 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
38214439-38215410 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 38215345 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 303
(K303E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149133
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076331]
[ENSMUST00000217223]
|
AlphaFold |
Q8VF25 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076331
AA Change: K303E
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000075669 Gene: ENSMUSG00000058114 AA Change: K303E
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
31 |
308 |
3.7e-46 |
PFAM |
Pfam:7tm_1
|
41 |
290 |
1.4e-21 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217223
AA Change: K303E
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
93% (37/40) |
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 |
4930432E11Rik |
A |
T |
7: 29,274,214 (GRCm39) |
|
noncoding transcript |
Het |
Abca14 |
A |
G |
7: 119,850,431 (GRCm39) |
E761G |
probably benign |
Het |
Apc |
C |
T |
18: 34,394,179 (GRCm39) |
T35I |
probably damaging |
Het |
Arhgef2 |
T |
A |
3: 88,541,723 (GRCm39) |
I228N |
probably damaging |
Het |
Atp6v1g2 |
A |
G |
17: 35,456,638 (GRCm39) |
E74G |
probably damaging |
Het |
Ccdc70 |
A |
G |
8: 22,463,447 (GRCm39) |
E79G |
probably damaging |
Het |
Cdc42ep4 |
A |
G |
11: 113,619,528 (GRCm39) |
S288P |
probably damaging |
Het |
Cip2a |
C |
T |
16: 48,837,828 (GRCm39) |
Q843* |
probably null |
Het |
Cpn2 |
T |
C |
16: 30,078,321 (GRCm39) |
D460G |
probably benign |
Het |
Crtam |
A |
G |
9: 40,884,811 (GRCm39) |
*393Q |
probably null |
Het |
Cwc22 |
A |
G |
2: 77,757,591 (GRCm39) |
I179T |
probably damaging |
Het |
Cyp3a41b |
T |
C |
5: 145,507,221 (GRCm39) |
M240V |
probably benign |
Het |
Dnah8 |
A |
T |
17: 30,896,178 (GRCm39) |
D864V |
probably benign |
Het |
Map3k7 |
T |
C |
4: 31,964,302 (GRCm39) |
S14P |
unknown |
Het |
Med25 |
A |
G |
7: 44,534,566 (GRCm39) |
S150P |
probably damaging |
Het |
Mex3b |
T |
C |
7: 82,517,070 (GRCm39) |
V71A |
probably benign |
Het |
Morc3 |
T |
C |
16: 93,638,275 (GRCm39) |
L19S |
probably damaging |
Het |
Morn1 |
T |
A |
4: 155,176,770 (GRCm39) |
S98T |
probably damaging |
Het |
Mthfd1l |
G |
T |
10: 4,006,771 (GRCm39) |
A678S |
probably damaging |
Het |
Napa |
A |
G |
7: 15,848,083 (GRCm39) |
Y200C |
probably damaging |
Het |
Nr5a2 |
T |
C |
1: 136,876,565 (GRCm39) |
I33V |
probably benign |
Het |
Pcnx1 |
A |
G |
12: 81,996,960 (GRCm39) |
D952G |
probably damaging |
Het |
Phf20l1 |
G |
A |
15: 66,466,769 (GRCm39) |
R66Q |
probably damaging |
Het |
Resf1 |
A |
G |
6: 149,236,145 (GRCm39) |
I1488M |
probably benign |
Het |
Rfk |
A |
G |
19: 17,375,960 (GRCm39) |
T85A |
probably benign |
Het |
Sbno2 |
T |
C |
10: 79,893,855 (GRCm39) |
D1179G |
possibly damaging |
Het |
Serpina3k |
C |
T |
12: 104,307,166 (GRCm39) |
Q133* |
probably null |
Het |
Setd4 |
T |
C |
16: 93,383,122 (GRCm39) |
|
probably benign |
Het |
Sh2d4b |
C |
T |
14: 40,582,548 (GRCm39) |
|
probably null |
Het |
Slc1a6 |
G |
A |
10: 78,648,718 (GRCm39) |
V480I |
possibly damaging |
Het |
Slc39a3 |
A |
T |
10: 80,867,104 (GRCm39) |
V214E |
possibly damaging |
Het |
Tll1 |
A |
G |
8: 64,504,435 (GRCm39) |
Y654H |
probably damaging |
Het |
Traf3ip1 |
T |
A |
1: 91,427,374 (GRCm39) |
C115S |
unknown |
Het |
Vmn1r209 |
T |
A |
13: 22,989,836 (GRCm39) |
I285F |
probably damaging |
Het |
Vmn2r87 |
G |
T |
10: 130,315,631 (GRCm39) |
T145K |
probably damaging |
Het |
Zan |
T |
C |
5: 137,394,388 (GRCm39) |
T4484A |
unknown |
Het |
Zfp768 |
T |
C |
7: 126,943,810 (GRCm39) |
E106G |
probably benign |
Het |
Zfp984 |
A |
G |
4: 147,839,234 (GRCm39) |
I539T |
possibly damaging |
Het |
|
Other mutations in Or14j6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00901:Or14j6
|
APN |
17 |
38,215,148 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL00981:Or14j6
|
APN |
17 |
38,215,072 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02271:Or14j6
|
APN |
17 |
38,215,134 (GRCm39) |
missense |
probably benign |
0.22 |
IGL02409:Or14j6
|
APN |
17 |
38,214,679 (GRCm39) |
missense |
probably damaging |
0.99 |
R1649:Or14j6
|
UTSW |
17 |
38,215,060 (GRCm39) |
missense |
probably benign |
0.09 |
R1808:Or14j6
|
UTSW |
17 |
38,214,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R3808:Or14j6
|
UTSW |
17 |
38,214,464 (GRCm39) |
missense |
probably benign |
0.00 |
R3809:Or14j6
|
UTSW |
17 |
38,214,464 (GRCm39) |
missense |
probably benign |
0.00 |
R3953:Or14j6
|
UTSW |
17 |
38,214,500 (GRCm39) |
missense |
probably benign |
0.00 |
R3955:Or14j6
|
UTSW |
17 |
38,214,500 (GRCm39) |
missense |
probably benign |
0.00 |
R3957:Or14j6
|
UTSW |
17 |
38,214,500 (GRCm39) |
missense |
probably benign |
0.00 |
R4683:Or14j6
|
UTSW |
17 |
38,215,039 (GRCm39) |
missense |
probably benign |
|
R5430:Or14j6
|
UTSW |
17 |
38,215,304 (GRCm39) |
missense |
probably damaging |
1.00 |
R5716:Or14j6
|
UTSW |
17 |
38,214,719 (GRCm39) |
missense |
probably benign |
0.00 |
R5866:Or14j6
|
UTSW |
17 |
38,214,700 (GRCm39) |
nonsense |
probably null |
|
R7074:Or14j6
|
UTSW |
17 |
38,214,718 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7238:Or14j6
|
UTSW |
17 |
38,215,328 (GRCm39) |
missense |
probably benign |
0.37 |
R8098:Or14j6
|
UTSW |
17 |
38,215,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R8212:Or14j6
|
UTSW |
17 |
38,215,148 (GRCm39) |
missense |
probably benign |
0.00 |
R8559:Or14j6
|
UTSW |
17 |
38,214,719 (GRCm39) |
missense |
probably benign |
0.00 |
R8865:Or14j6
|
UTSW |
17 |
38,215,115 (GRCm39) |
missense |
probably damaging |
1.00 |
R9046:Or14j6
|
UTSW |
17 |
38,215,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R9049:Or14j6
|
UTSW |
17 |
38,214,764 (GRCm39) |
nonsense |
probably null |
|
R9371:Or14j6
|
UTSW |
17 |
38,214,962 (GRCm39) |
missense |
probably benign |
0.10 |
X0021:Or14j6
|
UTSW |
17 |
38,214,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTGAAGGCCGATCTAAGG -3'
(R):5'- ACATATCTACCAGTGAGGCAATG -3'
Sequencing Primer
(F):5'- AGGCCGATCTAAGGTCTTCTC -3'
(R):5'- GAACTCACTTTGTAGACCAGGCTG -3'
|
Posted On |
2014-10-30 |