Incidental Mutation 'V7580:Or5an6'
| ID |
69442 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5an6
|
| Ensembl Gene |
ENSMUSG00000046650 |
| Gene Name |
olfactory receptor family 5 subfamily AN member 6 |
| Synonyms |
MOR215-1, GA_x6K02T2RE5P-2725206-2726153, Olfr1440 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
V7580 ()
of strain
stinger
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
12371629-12372576 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 12371914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 96
(V96I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148978
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054567]
[ENSMUST00000213657]
[ENSMUST00000213894]
[ENSMUST00000216145]
[ENSMUST00000217062]
|
| AlphaFold |
Q8VFV4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054567
AA Change: V96I
PolyPhen 2
Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000054798
Gene: ENSMUSG00000046650
AA Change: V96I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
7.5e-52 |
PFAM |
|
Pfam:7tm_1
|
42 |
291 |
7.2e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208644
AA Change: V96I
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213657
AA Change: V96I
PolyPhen 2
Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213894
AA Change: V96I
PolyPhen 2
Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214082
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216145
AA Change: V96I
PolyPhen 2
Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216169
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217062
AA Change: V96I
PolyPhen 2
Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216773
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.0%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,849,914 (GRCm39) |
M950L |
probably benign |
Het |
| Atp6v1h |
A |
G |
1: 5,194,666 (GRCm39) |
T282A |
possibly damaging |
Het |
| Casp8ap2 |
C |
T |
4: 32,639,944 (GRCm39) |
H333Y |
probably benign |
Het |
| Cd36 |
ACTGTCTGT |
ACTGT |
5: 18,025,526 (GRCm39) |
|
probably null |
Het |
| Cfi |
T |
A |
3: 129,648,641 (GRCm39) |
I175K |
possibly damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,042,931 (GRCm39) |
T870A |
probably benign |
Het |
| Dnah12 |
T |
A |
14: 26,495,050 (GRCm39) |
N1369K |
possibly damaging |
Het |
| Dnajc22 |
T |
A |
15: 98,999,363 (GRCm39) |
Y183N |
probably damaging |
Het |
| Erv3 |
T |
C |
2: 131,697,846 (GRCm39) |
H171R |
possibly damaging |
Het |
| Fam221b |
T |
C |
4: 43,665,865 (GRCm39) |
T249A |
probably benign |
Het |
| Gm10770 |
T |
A |
2: 150,021,404 (GRCm39) |
K38* |
probably null |
Het |
| Gm4787 |
G |
A |
12: 81,424,341 (GRCm39) |
Q606* |
probably null |
Het |
| Izumo4 |
A |
T |
10: 80,539,725 (GRCm39) |
T155S |
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,780,315 (GRCm39) |
I396V |
probably benign |
Het |
| Klc1 |
A |
T |
12: 111,741,006 (GRCm39) |
I161F |
probably benign |
Het |
| Lpar5 |
C |
A |
6: 125,058,690 (GRCm39) |
A137E |
possibly damaging |
Het |
| Lrp4 |
C |
T |
2: 91,318,863 (GRCm39) |
S900L |
possibly damaging |
Het |
| Lrrc37a |
T |
G |
11: 103,346,338 (GRCm39) |
N3176T |
possibly damaging |
Het |
| Med20 |
G |
A |
17: 47,929,757 (GRCm39) |
V65M |
probably damaging |
Het |
| Mylk |
G |
T |
16: 34,815,574 (GRCm39) |
|
probably null |
Het |
| Numbl |
T |
C |
7: 26,979,027 (GRCm39) |
S379P |
probably benign |
Het |
| Or10j7 |
G |
T |
1: 173,011,531 (GRCm39) |
L157I |
probably benign |
Het |
| Otop3 |
T |
A |
11: 115,235,664 (GRCm39) |
L432Q |
probably damaging |
Het |
| Papln |
C |
T |
12: 83,825,608 (GRCm39) |
R608C |
possibly damaging |
Het |
| Pelp1 |
T |
A |
11: 70,288,976 (GRCm39) |
T257S |
probably damaging |
Het |
| Pigx |
T |
C |
16: 31,906,240 (GRCm39) |
D129G |
probably damaging |
Het |
| Pik3cd |
A |
C |
4: 149,741,776 (GRCm39) |
L390R |
probably damaging |
Het |
| Plekhb1 |
T |
C |
7: 100,303,825 (GRCm39) |
T112A |
probably benign |
Het |
| Ppwd1 |
A |
G |
13: 104,356,745 (GRCm39) |
Y257H |
probably damaging |
Het |
| Recql4 |
T |
C |
15: 76,590,369 (GRCm39) |
D705G |
possibly damaging |
Het |
| Ror1 |
A |
G |
4: 100,298,130 (GRCm39) |
Q501R |
probably damaging |
Het |
| Slc30a4 |
T |
A |
2: 122,531,458 (GRCm39) |
M136L |
probably benign |
Het |
| Spaca1 |
T |
C |
4: 34,039,311 (GRCm39) |
E192G |
probably damaging |
Het |
| Spata31 |
C |
A |
13: 65,069,462 (GRCm39) |
P537T |
probably benign |
Het |
| Sptbn2 |
C |
T |
19: 4,800,660 (GRCm39) |
R2292C |
probably damaging |
Het |
| Tnrc6c |
G |
A |
11: 117,614,152 (GRCm39) |
R770H |
probably damaging |
Het |
| Trps1 |
T |
C |
15: 50,694,973 (GRCm39) |
K150E |
probably damaging |
Het |
| Tspyl3 |
A |
G |
2: 153,066,980 (GRCm39) |
V86A |
probably benign |
Het |
| Zfp292 |
C |
T |
4: 34,806,783 (GRCm39) |
C2087Y |
possibly damaging |
Het |
| Zmynd8 |
G |
A |
2: 165,654,314 (GRCm39) |
R724* |
probably null |
Het |
|
| Other mutations in Or5an6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02104:Or5an6
|
APN |
19 |
12,372,263 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02517:Or5an6
|
APN |
19 |
12,372,265 (GRCm39) |
missense |
probably benign |
|
|
IGL03173:Or5an6
|
APN |
19 |
12,372,410 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL03412:Or5an6
|
APN |
19 |
12,371,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
F5770:Or5an6
|
UTSW |
19 |
12,371,914 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0240:Or5an6
|
UTSW |
19 |
12,372,327 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0240:Or5an6
|
UTSW |
19 |
12,372,327 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1184:Or5an6
|
UTSW |
19 |
12,372,221 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1430:Or5an6
|
UTSW |
19 |
12,371,801 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4111:Or5an6
|
UTSW |
19 |
12,371,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5751:Or5an6
|
UTSW |
19 |
12,371,780 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6796:Or5an6
|
UTSW |
19 |
12,372,292 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7392:Or5an6
|
UTSW |
19 |
12,371,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8048:Or5an6
|
UTSW |
19 |
12,371,719 (GRCm39) |
missense |
not run |
|
|
R9612:Or5an6
|
UTSW |
19 |
12,371,983 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Or5an6
|
UTSW |
19 |
12,371,663 (GRCm39) |
missense |
probably benign |
0.37 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTGGAACTTGGGCCTCATCATC -3'
(R):5'- TAACCCTGGGAACTGTTGGAGCTG -3'
Sequencing Primer
(F):5'- GGATTGACCCTTACCTACACAC -3'
(R):5'- GTATTGAATGCCTTGGACCTAC -3'
|
| Posted On |
2013-09-04 |
Incidental Mutation