Incidental Mutation 'IGL02409:Or14j6'
| ID |
292208 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or14j6
|
| Ensembl Gene |
ENSMUSG00000058114 |
| Gene Name |
olfactory receptor family 14 subfamily J member 6 |
| Synonyms |
MOR218-7, Olfr127, GA_x6K02T2PSCP-2354126-2355093 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
IGL02409
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
38214439-38215410 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38214679 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 81
(Y81H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076331]
[ENSMUST00000217223]
|
| AlphaFold |
Q8VF25 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076331
AA Change: Y81H
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000075669
Gene: ENSMUSG00000058114
AA Change: Y81H
| 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 |
probably damaging
Transcript: ENSMUST00000217223
AA Change: Y81H
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Coding Region Coverage |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aqp4 |
T |
A |
18: 15,532,782 (GRCm39) |
M104L |
probably benign |
Het |
| Cdkn1a |
T |
C |
17: 29,317,428 (GRCm39) |
V16A |
probably benign |
Het |
| Celsr2 |
C |
A |
3: 108,321,271 (GRCm39) |
V514F |
probably damaging |
Het |
| Cmklr2 |
T |
A |
1: 63,222,875 (GRCm39) |
N120I |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,226,706 (GRCm39) |
N2794S |
probably damaging |
Het |
| Dnmt1 |
T |
C |
9: 20,837,793 (GRCm39) |
T281A |
probably benign |
Het |
| Dock2 |
A |
T |
11: 34,451,204 (GRCm39) |
N840K |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,621,088 (GRCm39) |
N540S |
possibly damaging |
Het |
| Elavl1 |
A |
T |
8: 4,339,838 (GRCm39) |
I248N |
possibly damaging |
Het |
| Fam120a |
A |
G |
13: 49,120,835 (GRCm39) |
V157A |
probably benign |
Het |
| Fcrl2 |
G |
A |
3: 87,160,030 (GRCm39) |
P408L |
probably benign |
Het |
| Grin2b |
T |
A |
6: 136,020,906 (GRCm39) |
M132L |
possibly damaging |
Het |
| Herc2 |
T |
A |
7: 55,870,217 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
T |
G |
2: 41,335,208 (GRCm39) |
K778T |
possibly damaging |
Het |
| Mapk10 |
T |
A |
5: 103,076,096 (GRCm39) |
E389D |
possibly damaging |
Het |
| Ms4a7 |
G |
T |
19: 11,301,807 (GRCm39) |
Y62* |
probably null |
Het |
| Muc5b |
A |
G |
7: 141,415,075 (GRCm39) |
T2674A |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,368,494 (GRCm39) |
L2613P |
probably benign |
Het |
| Ncapg2 |
A |
T |
12: 116,384,337 (GRCm39) |
Y266F |
probably damaging |
Het |
| Or10a3m |
A |
G |
7: 108,313,366 (GRCm39) |
I269V |
probably benign |
Het |
| Or1j14 |
T |
A |
2: 36,418,165 (GRCm39) |
V247E |
probably damaging |
Het |
| Or4c110 |
C |
T |
2: 88,832,254 (GRCm39) |
C126Y |
possibly damaging |
Het |
| Pkd1 |
T |
A |
17: 24,792,597 (GRCm39) |
I1428N |
probably benign |
Het |
| Ppil4 |
T |
C |
10: 7,674,328 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
T |
C |
10: 39,697,144 (GRCm39) |
V547A |
possibly damaging |
Het |
| Rgsl1 |
T |
C |
1: 153,701,989 (GRCm39) |
K155R |
possibly damaging |
Het |
| Skap2 |
T |
C |
6: 51,884,938 (GRCm39) |
D234G |
possibly damaging |
Het |
| Sult2a4 |
C |
T |
7: 13,718,844 (GRCm39) |
W133* |
probably null |
Het |
| Tbc1d2b |
C |
T |
9: 90,104,405 (GRCm39) |
S579N |
probably benign |
Het |
| Tdrkh |
T |
A |
3: 94,337,919 (GRCm39) |
|
probably benign |
Het |
| Thumpd2 |
A |
T |
17: 81,340,117 (GRCm39) |
F377L |
probably damaging |
Het |
| Tmem132d |
T |
C |
5: 127,861,952 (GRCm39) |
D723G |
probably damaging |
Het |
| Tnfrsf23 |
A |
T |
7: 143,222,308 (GRCm39) |
L168Q |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,784,974 (GRCm39) |
T818A |
unknown |
Het |
| Uox |
A |
T |
3: 146,330,381 (GRCm39) |
D130V |
probably benign |
Het |
| Vmn2r45 |
T |
C |
7: 8,488,727 (GRCm39) |
Y101C |
probably benign |
Het |
| Wdr1 |
C |
T |
5: 38,688,453 (GRCm39) |
D161N |
probably benign |
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 |
|
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 |
|
R2360:Or14j6
|
UTSW |
17 |
38,215,345 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation