Incidental Mutation 'IGL01972:Or6n1'
| ID |
181657 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or6n1
|
| Ensembl Gene |
ENSMUSG00000049528 |
| Gene Name |
olfactory receptor family 6 subfamily N member 1 |
| Synonyms |
Olfr429, GA_x6K02T2P20D-21090094-21089156, MOR105-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
IGL01972
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
173916604-173917546 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 173916987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 127
(C127F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149257
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060693]
[ENSMUST00000216346]
|
| AlphaFold |
Q7TRW1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060693
AA Change: C127F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000051323
Gene: ENSMUSG00000049528
AA Change: C127F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
1.2e-65 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.3e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193320
AA Change: C127F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142323
Gene: ENSMUSG00000049528
AA Change: C127F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
40 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
41 |
290 |
8.9e-31 |
PFAM |
|
Pfam:7tm_4
|
139 |
283 |
6.7e-43 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216346
AA Change: C127F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahr |
T |
G |
12: 35,554,448 (GRCm39) |
D557A |
possibly damaging |
Het |
| Akap11 |
T |
C |
14: 78,745,297 (GRCm39) |
Q1697R |
probably damaging |
Het |
| Alpi |
T |
A |
1: 87,027,431 (GRCm39) |
T312S |
probably damaging |
Het |
| Cacna1b |
C |
A |
2: 24,525,107 (GRCm39) |
|
probably null |
Het |
| Car5a |
C |
T |
8: 122,653,821 (GRCm39) |
|
probably null |
Het |
| Cubn |
T |
C |
2: 13,450,883 (GRCm39) |
T841A |
possibly damaging |
Het |
| Eml6 |
A |
T |
11: 29,788,451 (GRCm39) |
F545I |
possibly damaging |
Het |
| Fam114a2 |
G |
A |
11: 57,400,220 (GRCm39) |
T156I |
probably damaging |
Het |
| Fbxl21 |
C |
T |
13: 56,684,672 (GRCm39) |
R259* |
probably null |
Het |
| Fhip1b |
T |
C |
7: 105,039,352 (GRCm39) |
N5S |
probably damaging |
Het |
| Gm5117 |
C |
T |
8: 32,227,787 (GRCm39) |
|
noncoding transcript |
Het |
| Hc |
T |
C |
2: 34,873,784 (GRCm39) |
Y1650C |
probably damaging |
Het |
| Med12l |
C |
A |
3: 59,169,314 (GRCm39) |
T1568K |
probably damaging |
Het |
| Mtrex |
T |
C |
13: 113,017,595 (GRCm39) |
K853E |
probably damaging |
Het |
| Or2ag2b |
A |
G |
7: 106,417,739 (GRCm39) |
I150V |
probably benign |
Het |
| Or5g27 |
T |
C |
2: 85,410,117 (GRCm39) |
F178S |
probably damaging |
Het |
| Orm3 |
A |
G |
4: 63,277,563 (GRCm39) |
S184G |
probably benign |
Het |
| Padi1 |
A |
G |
4: 140,546,170 (GRCm39) |
|
probably benign |
Het |
| Rnf133 |
T |
C |
6: 23,648,988 (GRCm39) |
T357A |
probably benign |
Het |
| Tmem17 |
A |
G |
11: 22,467,265 (GRCm39) |
S60G |
probably benign |
Het |
| Ubqlnl |
G |
T |
7: 103,798,904 (GRCm39) |
Q198K |
probably benign |
Het |
| Vmn1r69 |
A |
T |
7: 10,314,586 (GRCm39) |
Y48* |
probably null |
Het |
| Zfp658 |
G |
A |
7: 43,222,134 (GRCm39) |
W136* |
probably null |
Het |
|
| Other mutations in Or6n1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01626:Or6n1
|
APN |
1 |
173,917,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01868:Or6n1
|
APN |
1 |
173,916,936 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02412:Or6n1
|
APN |
1 |
173,916,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02628:Or6n1
|
APN |
1 |
173,916,756 (GRCm39) |
missense |
probably benign |
|
|
IGL02861:Or6n1
|
APN |
1 |
173,916,602 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03404:Or6n1
|
APN |
1 |
173,917,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0267:Or6n1
|
UTSW |
1 |
173,916,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0357:Or6n1
|
UTSW |
1 |
173,916,675 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1499:Or6n1
|
UTSW |
1 |
173,916,813 (GRCm39) |
nonsense |
probably null |
|
|
R2051:Or6n1
|
UTSW |
1 |
173,916,785 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4706:Or6n1
|
UTSW |
1 |
173,917,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4820:Or6n1
|
UTSW |
1 |
173,916,742 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5439:Or6n1
|
UTSW |
1 |
173,917,541 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5538:Or6n1
|
UTSW |
1 |
173,917,544 (GRCm39) |
makesense |
probably null |
|
|
R5907:Or6n1
|
UTSW |
1 |
173,916,785 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6932:Or6n1
|
UTSW |
1 |
173,917,316 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7808:Or6n1
|
UTSW |
1 |
173,917,417 (GRCm39) |
nonsense |
probably null |
|
|
R8040:Or6n1
|
UTSW |
1 |
173,916,723 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8467:Or6n1
|
UTSW |
1 |
173,917,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9124:Or6n1
|
UTSW |
1 |
173,917,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9797:Or6n1
|
UTSW |
1 |
173,917,356 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
| Posted On |
2014-05-07 |
Incidental Mutation