Incidental Mutation 'R2864:Or8b43'
| ID |
253101 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8b43
|
| Ensembl Gene |
ENSMUSG00000049334 |
| Gene Name |
olfactory receptor family 8 subfamily B member 43 |
| Synonyms |
GA_x6K02T2PVTD-32141623-32142552, MOR169-1, Olfr902 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R2864 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
38360088-38361143 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38360684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 172
(N172S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151061
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050733]
[ENSMUST00000213105]
|
| AlphaFold |
E9Q6Z7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050733
AA Change: N172S
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000055975
Gene: ENSMUSG00000049334
AA Change: N172S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
306 |
1.5e-48 |
PFAM |
|
Pfam:7tm_1
|
41 |
289 |
1.2e-19 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213105
AA Change: N172S
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| 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 |
|---|
| Arhgap30 |
G |
T |
1: 171,235,774 (GRCm39) |
G716V |
probably damaging |
Het |
| Crk |
T |
C |
11: 75,594,211 (GRCm39) |
V266A |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,780,072 (GRCm39) |
F624L |
probably damaging |
Het |
| Fhod1 |
T |
C |
8: 106,059,543 (GRCm39) |
K714R |
probably null |
Het |
| Flt1 |
T |
C |
5: 147,531,431 (GRCm39) |
Q844R |
possibly damaging |
Het |
| Fn1 |
A |
G |
1: 71,641,578 (GRCm39) |
V1656A |
probably damaging |
Het |
| Fnip1 |
T |
C |
11: 54,393,250 (GRCm39) |
I562T |
probably damaging |
Het |
| Gm7168 |
A |
G |
17: 14,170,117 (GRCm39) |
K495E |
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,905,611 (GRCm39) |
H2240R |
probably damaging |
Het |
| Itpr3 |
T |
C |
17: 27,310,525 (GRCm39) |
V436A |
probably benign |
Het |
| Lrp1b |
G |
T |
2: 40,765,007 (GRCm39) |
Q2826K |
possibly damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,431,744 (GRCm39) |
F1357S |
probably benign |
Het |
| Luc7l |
C |
A |
17: 26,485,335 (GRCm39) |
Q112K |
probably damaging |
Het |
| Misp |
A |
G |
10: 79,662,872 (GRCm39) |
K430E |
probably benign |
Het |
| Oprm1 |
T |
A |
10: 6,744,226 (GRCm39) |
|
probably null |
Het |
| Paqr3 |
C |
T |
5: 97,247,595 (GRCm39) |
R171H |
possibly damaging |
Het |
| Phc3 |
C |
T |
3: 30,968,277 (GRCm39) |
D920N |
probably damaging |
Het |
| Pigk |
T |
C |
3: 152,428,189 (GRCm39) |
V72A |
probably damaging |
Het |
| Prickle1 |
C |
T |
15: 93,407,159 (GRCm39) |
G112R |
probably damaging |
Het |
| Rrbp1 |
T |
C |
2: 143,799,557 (GRCm39) |
E1050G |
probably damaging |
Het |
| Vmn2r93 |
A |
T |
17: 18,546,323 (GRCm39) |
I732F |
probably damaging |
Het |
| Xkr6 |
T |
C |
14: 64,057,205 (GRCm39) |
L372P |
unknown |
Het |
| Zfp523 |
T |
C |
17: 28,421,514 (GRCm39) |
V60A |
probably benign |
Het |
|
| Other mutations in Or8b43 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01738:Or8b43
|
APN |
9 |
38,360,942 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02149:Or8b43
|
APN |
9 |
38,360,693 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02869:Or8b43
|
APN |
9 |
38,360,489 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02945:Or8b43
|
APN |
9 |
38,360,812 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03269:Or8b43
|
APN |
9 |
38,360,197 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1955:Or8b43
|
UTSW |
9 |
38,360,984 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2182:Or8b43
|
UTSW |
9 |
38,360,420 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4423:Or8b43
|
UTSW |
9 |
38,360,662 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4938:Or8b43
|
UTSW |
9 |
38,360,679 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5537:Or8b43
|
UTSW |
9 |
38,360,538 (GRCm39) |
nonsense |
probably null |
|
|
R6645:Or8b43
|
UTSW |
9 |
38,360,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6861:Or8b43
|
UTSW |
9 |
38,360,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6951:Or8b43
|
UTSW |
9 |
38,360,234 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7568:Or8b43
|
UTSW |
9 |
38,360,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9002:Or8b43
|
UTSW |
9 |
38,360,171 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R9071:Or8b43
|
UTSW |
9 |
38,361,032 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGTGCTGACGTCAATGGC -3'
(R):5'- CGATTATGTGGGAGCTGCAG -3'
Sequencing Primer
(F):5'- CTGACGTCAATGGCTTATGATC -3'
(R):5'- CTACCCTTAGAGGAACTTATGCGG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation