Incidental Mutation 'IGL01640:Or51ac3'
| ID |
93106 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or51ac3
|
| Ensembl Gene |
ENSMUSG00000047544 |
| Gene Name |
olfactory receptor family 51 subfamily AC member 3 |
| Synonyms |
MOR19-1, GA_x6K02T2PBJ9-6289676-6288723, Olfr616 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
IGL01640
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
103213531-103214484 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103214228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 86
(V86A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098198]
[ENSMUST00000106886]
[ENSMUST00000214345]
[ENSMUST00000214806]
[ENSMUST00000215673]
[ENSMUST00000217293]
|
| AlphaFold |
Q3KPB0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098198
|
| SMART Domains |
Protein: ENSMUSP00000095800
Gene: ENSMUSG00000073947
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
311 |
2.5e-105 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
36 |
253 |
8.5e-9 |
PFAM |
|
Pfam:7tm_1
|
42 |
293 |
8.2e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106886
AA Change: V86A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102499
Gene: ENSMUSG00000047544
AA Change: V86A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
22 |
N/A |
INTRINSIC |
|
Pfam:7tm_4
|
33 |
311 |
1.1e-116 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
309 |
1.2e-6 |
PFAM |
|
Pfam:7tm_1
|
43 |
294 |
4.3e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214345
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214806
AA Change: V86A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215673
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217293
AA Change: V86A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| 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 |
|---|
| 1700003H04Rik |
T |
C |
3: 124,373,587 (GRCm39) |
T3A |
probably damaging |
Het |
| 4933402N03Rik |
A |
T |
7: 130,740,848 (GRCm39) |
S123T |
possibly damaging |
Het |
| Adamts17 |
A |
T |
7: 66,679,428 (GRCm39) |
T559S |
probably damaging |
Het |
| Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
| Arel1 |
G |
A |
12: 84,967,475 (GRCm39) |
T783M |
probably damaging |
Het |
| B3gntl1 |
C |
T |
11: 121,563,846 (GRCm39) |
E5K |
probably benign |
Het |
| Faf1 |
T |
A |
4: 109,697,600 (GRCm39) |
F309I |
probably damaging |
Het |
| Fhod3 |
T |
G |
18: 25,248,850 (GRCm39) |
M1343R |
probably benign |
Het |
| Fnbp1 |
A |
G |
2: 30,995,303 (GRCm39) |
F44L |
probably damaging |
Het |
| Gm3633 |
A |
T |
14: 42,460,324 (GRCm39) |
Y206* |
probably null |
Het |
| Gprc6a |
A |
C |
10: 51,503,180 (GRCm39) |
F228V |
probably damaging |
Het |
| Il31ra |
T |
C |
13: 112,668,292 (GRCm39) |
I453V |
possibly damaging |
Het |
| Kif2a |
A |
G |
13: 107,111,060 (GRCm39) |
I529T |
probably damaging |
Het |
| Lrrc19 |
C |
T |
4: 94,526,745 (GRCm39) |
V271I |
probably damaging |
Het |
| Ncaph2 |
A |
G |
15: 89,248,041 (GRCm39) |
|
probably null |
Het |
| Nek5 |
A |
G |
8: 22,610,856 (GRCm39) |
I49T |
probably benign |
Het |
| Nhlrc3 |
A |
T |
3: 53,360,958 (GRCm39) |
|
probably benign |
Het |
| Or52n20 |
A |
T |
7: 104,320,871 (GRCm39) |
S321C |
probably damaging |
Het |
| Or8g28 |
C |
A |
9: 39,169,559 (GRCm39) |
M136I |
probably damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,528,297 (GRCm39) |
T1308A |
probably benign |
Het |
| Pla2g6 |
T |
C |
15: 79,188,513 (GRCm39) |
N448S |
probably benign |
Het |
| Pole |
T |
A |
5: 110,446,132 (GRCm39) |
L571Q |
probably null |
Het |
| Rufy1 |
A |
G |
11: 50,281,205 (GRCm39) |
|
probably benign |
Het |
| Sftpd |
C |
A |
14: 40,894,592 (GRCm39) |
A276S |
probably benign |
Het |
| Slc35f4 |
A |
C |
14: 49,556,225 (GRCm39) |
V176G |
probably damaging |
Het |
| Snrpb |
T |
C |
2: 130,017,251 (GRCm39) |
D89G |
probably benign |
Het |
| Stab2 |
A |
T |
10: 86,790,035 (GRCm39) |
V577D |
probably benign |
Het |
| Synrg |
A |
C |
11: 83,872,334 (GRCm39) |
S152R |
probably damaging |
Het |
| Trgv7 |
T |
C |
13: 19,362,260 (GRCm39) |
|
probably benign |
Het |
| Trpm1 |
A |
G |
7: 63,876,645 (GRCm39) |
E682G |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,718,744 (GRCm39) |
I2989T |
probably benign |
Het |
| Vmn1r116 |
A |
G |
7: 20,606,373 (GRCm39) |
T65A |
probably benign |
Het |
| Zfp469 |
G |
A |
8: 122,998,009 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Or51ac3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02366:Or51ac3
|
APN |
7 |
103,213,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03028:Or51ac3
|
APN |
7 |
103,213,796 (GRCm39) |
splice site |
probably null |
|
|
R0087:Or51ac3
|
UTSW |
7 |
103,213,569 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1450:Or51ac3
|
UTSW |
7 |
103,213,658 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1900:Or51ac3
|
UTSW |
7 |
103,213,814 (GRCm39) |
nonsense |
probably null |
|
|
R2026:Or51ac3
|
UTSW |
7 |
103,214,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2139:Or51ac3
|
UTSW |
7 |
103,213,961 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2883:Or51ac3
|
UTSW |
7 |
103,214,471 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4359:Or51ac3
|
UTSW |
7 |
103,213,742 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4589:Or51ac3
|
UTSW |
7 |
103,213,639 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4827:Or51ac3
|
UTSW |
7 |
103,213,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5023:Or51ac3
|
UTSW |
7 |
103,214,378 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5397:Or51ac3
|
UTSW |
7 |
103,213,713 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6109:Or51ac3
|
UTSW |
7 |
103,214,346 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8090:Or51ac3
|
UTSW |
7 |
103,214,048 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9101:Or51ac3
|
UTSW |
7 |
103,213,680 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9439:Or51ac3
|
UTSW |
7 |
103,214,049 (GRCm39) |
missense |
probably benign |
|
|
R9649:Or51ac3
|
UTSW |
7 |
103,213,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation