Incidental Mutation 'IGL02640:Or14j2'
ID |
301682 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Or14j2
|
Ensembl Gene |
ENSMUSG00000092292 |
Gene Name |
olfactory receptor family 14 subfamily J member 2 |
Synonyms |
Olfr113, GA_x6K02T2PSCP-2034880-2033942, MOR218-9 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.094)
|
Stock # |
IGL02640
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
37885374-37886312 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37885912 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 134
(V134A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149739
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000174139]
[ENSMUST00000216181]
|
AlphaFold |
Q8VEU4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174139
AA Change: V134A
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000134080 Gene: ENSMUSG00000109212 AA Change: V134A
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
31 |
308 |
3.7e-46 |
PFAM |
Pfam:7TM_GPCR_Srx
|
32 |
307 |
3.4e-7 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
4.2e-6 |
PFAM |
Pfam:7tm_1
|
41 |
290 |
2.9e-20 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216181
AA Change: V134A
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alkbh3 |
C |
A |
2: 93,826,706 (GRCm39) |
R165L |
possibly damaging |
Het |
Arap3 |
A |
G |
18: 38,120,855 (GRCm39) |
V730A |
possibly damaging |
Het |
Arcn1 |
A |
C |
9: 44,662,614 (GRCm39) |
I344S |
probably damaging |
Het |
Ascc3 |
A |
C |
10: 50,643,470 (GRCm39) |
D1807A |
possibly damaging |
Het |
Atp2b3 |
A |
G |
X: 72,585,811 (GRCm39) |
S615G |
probably benign |
Het |
Ccdc40 |
A |
G |
11: 119,128,904 (GRCm39) |
N450S |
probably benign |
Het |
Cep41 |
T |
C |
6: 30,658,867 (GRCm39) |
E160G |
probably benign |
Het |
Cxxc1 |
T |
C |
18: 74,354,254 (GRCm39) |
L654P |
probably damaging |
Het |
Dusp29 |
T |
A |
14: 21,753,123 (GRCm39) |
T8S |
probably damaging |
Het |
Gnb4 |
C |
T |
3: 32,645,374 (GRCm39) |
A106T |
probably benign |
Het |
Gosr1 |
T |
C |
11: 76,645,603 (GRCm39) |
N59S |
probably benign |
Het |
Itgav |
A |
G |
2: 83,622,283 (GRCm39) |
T622A |
probably benign |
Het |
Lamc2 |
A |
G |
1: 153,027,803 (GRCm39) |
I207T |
probably damaging |
Het |
Lce1c |
C |
A |
3: 92,587,845 (GRCm39) |
|
probably benign |
Het |
Mcm3ap |
G |
T |
10: 76,342,255 (GRCm39) |
D1583Y |
probably damaging |
Het |
Mphosph9 |
A |
T |
5: 124,453,563 (GRCm39) |
F220I |
possibly damaging |
Het |
Or2ag16 |
A |
T |
7: 106,352,559 (GRCm39) |
F12Y |
probably damaging |
Het |
Plcb1 |
T |
G |
2: 135,062,779 (GRCm39) |
|
probably benign |
Het |
Polr3c |
G |
A |
3: 96,624,002 (GRCm39) |
T312M |
probably damaging |
Het |
Ppp4r3c2 |
T |
C |
X: 88,796,210 (GRCm39) |
V14A |
probably benign |
Het |
Ptpn12 |
G |
T |
5: 21,224,244 (GRCm39) |
D116E |
probably damaging |
Het |
Ptprb |
A |
G |
10: 116,174,569 (GRCm39) |
D747G |
probably damaging |
Het |
Scn9a |
A |
G |
2: 66,366,440 (GRCm39) |
|
probably null |
Het |
Slit3 |
T |
C |
11: 35,591,172 (GRCm39) |
V1328A |
probably benign |
Het |
Sucla2 |
C |
A |
14: 73,819,246 (GRCm39) |
S264Y |
probably benign |
Het |
Tagln3 |
T |
C |
16: 45,544,596 (GRCm39) |
D25G |
probably benign |
Het |
Tbck |
A |
G |
3: 132,480,247 (GRCm39) |
T709A |
probably benign |
Het |
Tead1 |
C |
T |
7: 112,460,663 (GRCm39) |
A189V |
probably benign |
Het |
Tmem234 |
A |
G |
4: 129,494,896 (GRCm39) |
Q46R |
probably damaging |
Het |
Trpm1 |
T |
A |
7: 63,868,881 (GRCm39) |
L395Q |
probably damaging |
Het |
Tti2 |
T |
A |
8: 31,645,942 (GRCm39) |
W419R |
probably damaging |
Het |
Vmn2r3 |
A |
T |
3: 64,194,816 (GRCm39) |
M34K |
probably benign |
Het |
Vps13c |
G |
T |
9: 67,793,530 (GRCm39) |
|
probably benign |
Het |
Zfp521 |
A |
T |
18: 13,977,987 (GRCm39) |
Y809N |
probably benign |
Het |
|
Other mutations in Or14j2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00088:Or14j2
|
APN |
17 |
37,885,808 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01061:Or14j2
|
APN |
17 |
37,885,795 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL01293:Or14j2
|
APN |
17 |
37,886,308 (GRCm39) |
missense |
probably benign |
|
IGL01370:Or14j2
|
APN |
17 |
37,885,412 (GRCm39) |
splice site |
probably null |
|
IGL01535:Or14j2
|
APN |
17 |
37,885,679 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02134:Or14j2
|
APN |
17 |
37,886,249 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02536:Or14j2
|
APN |
17 |
37,885,817 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02652:Or14j2
|
APN |
17 |
37,885,836 (GRCm39) |
nonsense |
probably null |
|
IGL02963:Or14j2
|
APN |
17 |
37,885,745 (GRCm39) |
missense |
probably benign |
0.09 |
R0104:Or14j2
|
UTSW |
17 |
37,885,817 (GRCm39) |
missense |
probably damaging |
1.00 |
R1662:Or14j2
|
UTSW |
17 |
37,886,164 (GRCm39) |
missense |
probably damaging |
1.00 |
R2904:Or14j2
|
UTSW |
17 |
37,885,705 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5129:Or14j2
|
UTSW |
17 |
37,886,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R5197:Or14j2
|
UTSW |
17 |
37,886,111 (GRCm39) |
missense |
probably benign |
0.00 |
R5347:Or14j2
|
UTSW |
17 |
37,885,618 (GRCm39) |
missense |
probably damaging |
0.97 |
R6044:Or14j2
|
UTSW |
17 |
37,885,426 (GRCm39) |
missense |
probably damaging |
0.96 |
R7048:Or14j2
|
UTSW |
17 |
37,886,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R7064:Or14j2
|
UTSW |
17 |
37,885,634 (GRCm39) |
missense |
probably damaging |
1.00 |
R8123:Or14j2
|
UTSW |
17 |
37,885,653 (GRCm39) |
missense |
probably benign |
0.05 |
R8205:Or14j2
|
UTSW |
17 |
37,885,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R8710:Or14j2
|
UTSW |
17 |
37,885,540 (GRCm39) |
missense |
probably benign |
0.00 |
R8989:Or14j2
|
UTSW |
17 |
37,885,542 (GRCm39) |
missense |
probably benign |
0.01 |
R9323:Or14j2
|
UTSW |
17 |
37,886,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R9439:Or14j2
|
UTSW |
17 |
37,885,825 (GRCm39) |
missense |
probably benign |
0.00 |
X0062:Or14j2
|
UTSW |
17 |
37,885,388 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2015-04-16 |