Incidental Mutation 'IGL01876:Or5ac17'
| ID |
178894 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or5ac17
|
| Ensembl Gene |
ENSMUSG00000074996 |
| Gene Name |
olfactory receptor family 5 subfamily AC member 17 |
| Synonyms |
MOR182-14, GA_x54KRFPKG5P-55430495-55429569, Olfr199 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
IGL01876
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
59036048-59036974 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59036382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 198
(V198A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099657]
[ENSMUST00000214186]
|
| AlphaFold |
F6ZUS0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099657
AA Change: V198A
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000097249
Gene: ENSMUSG00000074996
AA Change: V198A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
2.7e-48 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
1.6e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
4.7e-18 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214186
AA Change: V198A
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1l3 |
A |
T |
6: 48,966,970 (GRCm39) |
R639S |
possibly damaging |
Het |
| Aopep |
T |
C |
13: 63,338,336 (GRCm39) |
S570P |
probably damaging |
Het |
| Ap3b2 |
T |
A |
7: 81,123,602 (GRCm39) |
|
probably null |
Het |
| Api5 |
A |
G |
2: 94,249,299 (GRCm39) |
|
probably benign |
Het |
| Arhgap1 |
A |
G |
2: 91,480,564 (GRCm39) |
|
probably null |
Het |
| Cip2a |
T |
C |
16: 48,822,041 (GRCm39) |
V223A |
probably damaging |
Het |
| Cldn6 |
G |
T |
17: 23,900,158 (GRCm39) |
V41F |
probably damaging |
Het |
| Dctn1 |
G |
T |
6: 83,174,903 (GRCm39) |
V1032L |
probably damaging |
Het |
| Eef2 |
T |
A |
10: 81,016,104 (GRCm39) |
F488L |
probably benign |
Het |
| Fars2 |
A |
G |
13: 36,721,285 (GRCm39) |
T410A |
probably benign |
Het |
| Hnrnpc |
T |
C |
14: 52,319,330 (GRCm39) |
N91S |
probably null |
Het |
| Magel2 |
T |
C |
7: 62,028,575 (GRCm39) |
V493A |
possibly damaging |
Het |
| Odr4 |
G |
T |
1: 150,258,089 (GRCm39) |
T182N |
probably benign |
Het |
| Or4c117 |
A |
T |
2: 88,956,081 (GRCm39) |
|
probably null |
Het |
| Pcnx2 |
G |
T |
8: 126,592,770 (GRCm39) |
S731R |
probably benign |
Het |
| Plekhm1 |
A |
G |
11: 103,267,577 (GRCm39) |
L798P |
probably damaging |
Het |
| Prkd1 |
T |
C |
12: 50,413,131 (GRCm39) |
E680G |
probably damaging |
Het |
| Rabggta |
T |
C |
14: 55,956,128 (GRCm39) |
T140A |
probably damaging |
Het |
| Slc2a1 |
G |
A |
4: 118,990,575 (GRCm39) |
D236N |
probably benign |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Sptlc1 |
C |
A |
13: 53,528,048 (GRCm39) |
V39F |
probably benign |
Het |
| Vmn1r6 |
A |
G |
6: 56,979,446 (GRCm39) |
K36R |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wdpcp |
T |
A |
11: 21,763,383 (GRCm39) |
D581E |
possibly damaging |
Het |
|
| Other mutations in Or5ac17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00226:Or5ac17
|
APN |
16 |
59,036,859 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL00972:Or5ac17
|
APN |
16 |
59,036,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01734:Or5ac17
|
APN |
16 |
59,036,792 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02017:Or5ac17
|
APN |
16 |
59,036,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02871:Or5ac17
|
APN |
16 |
59,036,737 (GRCm39) |
nonsense |
probably null |
|
|
IGL03153:Or5ac17
|
APN |
16 |
59,036,566 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0702:Or5ac17
|
UTSW |
16 |
59,036,062 (GRCm39) |
missense |
probably benign |
|
|
R0825:Or5ac17
|
UTSW |
16 |
59,036,813 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1522:Or5ac17
|
UTSW |
16 |
59,036,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1769:Or5ac17
|
UTSW |
16 |
59,036,344 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2144:Or5ac17
|
UTSW |
16 |
59,036,389 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3956:Or5ac17
|
UTSW |
16 |
59,036,428 (GRCm39) |
nonsense |
probably null |
|
|
R4783:Or5ac17
|
UTSW |
16 |
59,036,222 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5534:Or5ac17
|
UTSW |
16 |
59,036,403 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6031:Or5ac17
|
UTSW |
16 |
59,036,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6031:Or5ac17
|
UTSW |
16 |
59,036,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6141:Or5ac17
|
UTSW |
16 |
59,036,916 (GRCm39) |
missense |
probably benign |
|
|
R6445:Or5ac17
|
UTSW |
16 |
59,036,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6459:Or5ac17
|
UTSW |
16 |
59,036,383 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6568:Or5ac17
|
UTSW |
16 |
59,036,641 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7378:Or5ac17
|
UTSW |
16 |
59,036,283 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7438:Or5ac17
|
UTSW |
16 |
59,036,761 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8157:Or5ac17
|
UTSW |
16 |
59,036,352 (GRCm39) |
missense |
probably benign |
|
|
R8258:Or5ac17
|
UTSW |
16 |
59,036,458 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8259:Or5ac17
|
UTSW |
16 |
59,036,458 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9775:Or5ac17
|
UTSW |
16 |
59,036,069 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9795:Or5ac17
|
UTSW |
16 |
59,036,938 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Posted On |
2014-05-07 |
Incidental Mutation