Incidental Mutation 'IGL01082:Or14j5'
| ID |
53025 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or14j5
|
| Ensembl Gene |
ENSMUSG00000109212 |
| Gene Name |
olfactory receptor family 14 subfamily J member 5 |
| Synonyms |
Olfr126, GA_x6K02T2PSCP-2307164-2308123, MOR218-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
IGL01082
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
38161485-38162444 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38161514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 10
(S10R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151205
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076936]
[ENSMUST00000174139]
[ENSMUST00000213844]
[ENSMUST00000217487]
|
| AlphaFold |
Q8VGF0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076936
AA Change: S10R
|
| SMART Domains |
Protein: ENSMUSP00000076203
Gene: ENSMUSG00000092413
AA Change: S10R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srv
|
24 |
252 |
2.6e-7 |
PFAM |
|
Pfam:7tm_4
|
31 |
308 |
3.2e-45 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
2.3e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174139
AA Change: S10R
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000134080
Gene: ENSMUSG00000109212
AA Change: S10R
| 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 |
noncoding transcript
Transcript: ENSMUST00000201362
AA Change: S10R
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213844
AA Change: S10R
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217487
AA Change: S10R
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
A |
1: 71,353,273 (GRCm39) |
S723F |
probably damaging |
Het |
| Cacng5 |
C |
T |
11: 107,772,531 (GRCm39) |
V106I |
probably benign |
Het |
| Ccdc116 |
A |
G |
16: 16,959,856 (GRCm39) |
S278P |
probably damaging |
Het |
| Cep152 |
A |
T |
2: 125,411,465 (GRCm39) |
|
probably benign |
Het |
| Cftr |
T |
C |
6: 18,226,102 (GRCm39) |
V350A |
probably damaging |
Het |
| Dsc2 |
A |
T |
18: 20,176,849 (GRCm39) |
N399K |
probably damaging |
Het |
| Eif3d |
T |
C |
15: 77,843,943 (GRCm39) |
T468A |
probably damaging |
Het |
| Fam110b |
C |
T |
4: 5,799,461 (GRCm39) |
A293V |
possibly damaging |
Het |
| Flrt1 |
T |
C |
19: 7,073,339 (GRCm39) |
T403A |
probably benign |
Het |
| H3c6 |
A |
G |
13: 23,746,548 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,267,429 (GRCm39) |
V609E |
possibly damaging |
Het |
| Klb |
G |
A |
5: 65,533,283 (GRCm39) |
V531I |
possibly damaging |
Het |
| Krt73 |
T |
C |
15: 101,707,372 (GRCm39) |
|
probably null |
Het |
| Mcm2 |
A |
G |
6: 88,864,859 (GRCm39) |
V539A |
probably benign |
Het |
| Myb |
A |
G |
10: 21,028,843 (GRCm39) |
V85A |
probably damaging |
Het |
| Ndufs1 |
T |
C |
1: 63,203,976 (GRCm39) |
E102G |
probably damaging |
Het |
| Nr5a2 |
C |
A |
1: 136,773,206 (GRCm39) |
A499S |
probably benign |
Het |
| Opa1 |
A |
T |
16: 29,436,933 (GRCm39) |
|
probably benign |
Het |
| Or4a47 |
A |
T |
2: 89,674,407 (GRCm39) |
|
probably benign |
Het |
| Or4c11b |
T |
C |
2: 88,625,637 (GRCm39) |
F304L |
probably benign |
Het |
| Pcnx1 |
G |
A |
12: 82,037,372 (GRCm39) |
E1877K |
possibly damaging |
Het |
| Sel1l |
A |
G |
12: 91,778,682 (GRCm39) |
V711A |
probably benign |
Het |
| Slc22a16 |
A |
G |
10: 40,449,860 (GRCm39) |
T120A |
probably benign |
Het |
| Slc26a1 |
G |
T |
5: 108,819,744 (GRCm39) |
T485N |
possibly damaging |
Het |
| Sp100 |
T |
C |
1: 85,597,741 (GRCm39) |
V201A |
possibly damaging |
Het |
| Spz1 |
T |
G |
13: 92,712,029 (GRCm39) |
K149T |
probably damaging |
Het |
| Stxbp5l |
A |
G |
16: 37,024,940 (GRCm39) |
S553P |
possibly damaging |
Het |
| Szt2 |
A |
G |
4: 118,254,821 (GRCm39) |
S290P |
probably damaging |
Het |
| Tbc1d10c |
A |
G |
19: 4,239,026 (GRCm39) |
Y165H |
probably damaging |
Het |
| Tnxb |
C |
A |
17: 34,933,584 (GRCm39) |
Q2335K |
probably damaging |
Het |
| Trim33 |
T |
C |
3: 103,234,175 (GRCm39) |
I471T |
possibly damaging |
Het |
| Vsig10 |
A |
G |
5: 117,472,970 (GRCm39) |
I188V |
probably benign |
Het |
| Zfp109 |
A |
T |
7: 23,933,784 (GRCm39) |
L45Q |
probably damaging |
Het |
|
| Other mutations in Or14j5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01656:Or14j5
|
APN |
17 |
38,162,029 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL01674:Or14j5
|
APN |
17 |
37,920,853 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01903:Or14j5
|
APN |
17 |
37,920,758 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02262:Or14j5
|
APN |
17 |
38,162,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02445:Or14j5
|
APN |
17 |
38,162,008 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0559:Or14j5
|
UTSW |
17 |
38,161,746 (GRCm39) |
nonsense |
probably null |
|
|
R1164:Or14j5
|
UTSW |
17 |
38,161,575 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1828:Or14j5
|
UTSW |
17 |
38,161,966 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1840:Or14j5
|
UTSW |
17 |
38,161,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1882:Or14j5
|
UTSW |
17 |
38,161,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2368:Or14j5
|
UTSW |
17 |
38,161,509 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2377:Or14j5
|
UTSW |
17 |
38,161,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3832:Or14j5
|
UTSW |
17 |
38,162,071 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6589:Or14j5
|
UTSW |
17 |
38,161,727 (GRCm39) |
nonsense |
probably null |
|
|
R7794:Or14j5
|
UTSW |
17 |
38,161,678 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7853:Or14j5
|
UTSW |
17 |
38,161,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8009:Or14j5
|
UTSW |
17 |
38,161,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8501:Or14j5
|
UTSW |
17 |
38,161,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8874:Or14j5
|
UTSW |
17 |
38,161,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8902:Or14j5
|
UTSW |
17 |
38,162,101 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Posted On |
2013-06-21 |
Incidental Mutation