Incidental Mutation 'R3931:Or6n2'
| ID |
308457 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or6n2
|
| Ensembl Gene |
ENSMUSG00000050134 |
| Gene Name |
olfactory receptor family 6 subfamily N member 2 |
| Synonyms |
GA_x6K02T2P20D-21108443-21107490, MOR105-5P, Olfr430 |
| MMRRC Submission |
040918-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R3931 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
173896866-173897819 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 173897147 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 94
(F94L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150930
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055873]
[ENSMUST00000213425]
[ENSMUST00000214390]
|
| AlphaFold |
E9Q5F1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055873
AA Change: F94L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130615
Gene: ENSMUSG00000050134
AA Change: F94L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
1.4e-65 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
9.9e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213425
AA Change: F94L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214390
AA Change: F94L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.1752 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
100% (30/30) |
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
A |
C |
6: 92,811,420 (GRCm39) |
|
probably benign |
Het |
| Cbarp |
A |
G |
10: 79,971,348 (GRCm39) |
L159P |
probably damaging |
Het |
| Ccnd2 |
A |
G |
6: 127,107,422 (GRCm39) |
I249T |
probably damaging |
Het |
| Cerk |
G |
T |
15: 86,039,311 (GRCm39) |
C193* |
probably null |
Het |
| Chrna2 |
A |
G |
14: 66,387,216 (GRCm39) |
E454G |
probably benign |
Het |
| Clnk |
T |
C |
5: 38,925,412 (GRCm39) |
T130A |
probably benign |
Het |
| Dcbld2 |
T |
C |
16: 58,285,701 (GRCm39) |
L620P |
probably damaging |
Het |
| Dhx29 |
T |
A |
13: 113,095,499 (GRCm39) |
V942E |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,971,675 (GRCm39) |
|
probably benign |
Het |
| Dnai1 |
G |
A |
4: 41,604,229 (GRCm39) |
C212Y |
probably damaging |
Het |
| Dpep1 |
A |
G |
8: 123,925,518 (GRCm39) |
D57G |
possibly damaging |
Het |
| Gfm2 |
G |
A |
13: 97,311,532 (GRCm39) |
V701I |
probably benign |
Het |
| Grm1 |
C |
T |
10: 10,595,622 (GRCm39) |
A669T |
probably benign |
Het |
| Hsd3b3 |
C |
T |
3: 98,649,492 (GRCm39) |
G277D |
probably damaging |
Het |
| Hsf5 |
A |
G |
11: 87,522,508 (GRCm39) |
Y367C |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lipo4 |
C |
T |
19: 33,480,619 (GRCm39) |
V250I |
probably benign |
Het |
| Lrrc14 |
T |
C |
15: 76,597,765 (GRCm39) |
V165A |
probably benign |
Het |
| Map3k9 |
A |
G |
12: 81,819,691 (GRCm39) |
F188L |
probably damaging |
Het |
| Mpo |
A |
G |
11: 87,691,866 (GRCm39) |
Y433C |
probably damaging |
Het |
| Nsd2 |
A |
G |
5: 34,003,461 (GRCm39) |
K185E |
probably benign |
Het |
| Oxct1 |
T |
A |
15: 4,066,601 (GRCm39) |
N72K |
possibly damaging |
Het |
| Ptpn12 |
A |
G |
5: 21,206,321 (GRCm39) |
I324T |
probably benign |
Het |
| Sez6 |
T |
C |
11: 77,867,708 (GRCm39) |
I875T |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,311,655 (GRCm39) |
V1811E |
probably damaging |
Het |
| Trpc4 |
A |
G |
3: 54,225,516 (GRCm39) |
D871G |
probably damaging |
Het |
| Upf2 |
A |
G |
2: 6,051,821 (GRCm39) |
E1161G |
unknown |
Het |
| Zp2 |
T |
C |
7: 119,731,580 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Or6n2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01347:Or6n2
|
APN |
1 |
173,897,632 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02279:Or6n2
|
APN |
1 |
173,896,957 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL02537:Or6n2
|
APN |
1 |
173,897,020 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0323:Or6n2
|
UTSW |
1 |
173,896,893 (GRCm39) |
missense |
probably benign |
|
|
R0627:Or6n2
|
UTSW |
1 |
173,897,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1079:Or6n2
|
UTSW |
1 |
173,897,032 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1757:Or6n2
|
UTSW |
1 |
173,897,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1902:Or6n2
|
UTSW |
1 |
173,897,692 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3804:Or6n2
|
UTSW |
1 |
173,897,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3927:Or6n2
|
UTSW |
1 |
173,896,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3930:Or6n2
|
UTSW |
1 |
173,897,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4111:Or6n2
|
UTSW |
1 |
173,896,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4210:Or6n2
|
UTSW |
1 |
173,897,574 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4383:Or6n2
|
UTSW |
1 |
173,897,043 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4651:Or6n2
|
UTSW |
1 |
173,897,394 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5097:Or6n2
|
UTSW |
1 |
173,897,095 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5385:Or6n2
|
UTSW |
1 |
173,897,036 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5722:Or6n2
|
UTSW |
1 |
173,897,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6608:Or6n2
|
UTSW |
1 |
173,897,295 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6643:Or6n2
|
UTSW |
1 |
173,897,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7316:Or6n2
|
UTSW |
1 |
173,897,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7532:Or6n2
|
UTSW |
1 |
173,897,664 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8141:Or6n2
|
UTSW |
1 |
173,897,488 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9102:Or6n2
|
UTSW |
1 |
173,897,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9351:Or6n2
|
UTSW |
1 |
173,897,021 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Or6n2
|
UTSW |
1 |
173,897,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Or6n2
|
UTSW |
1 |
173,897,080 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Or6n2
|
UTSW |
1 |
173,896,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAACACATCAGAAGCTGCC -3'
(R):5'- GATGTGTCTTTGCAGGCCAG -3'
Sequencing Primer
(F):5'- GAACACATCAGAAGCTGCCTTTTTG -3'
(R):5'- CTTTGCAGGCCAGGCTCAAAAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation