Incidental Mutation 'IGL01354:Or8b4'
| ID |
75471 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or8b4
|
| Ensembl Gene |
ENSMUSG00000066747 |
| Gene Name |
olfactory receptor family 8 subfamily B member 4 |
| Synonyms |
MOR163-1, GA_x6K02T2PVTD-31600511-31601440, Olfr878 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
IGL01354
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
37829844-37830908 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 37830840 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 301
(V301I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083228
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086061]
[ENSMUST00000212878]
[ENSMUST00000214263]
[ENSMUST00000216723]
|
| AlphaFold |
Q9EQA9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086061
AA Change: V301I
PolyPhen 2
Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000083228
Gene: ENSMUSG00000066747
AA Change: V301I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
36 |
312 |
1.4e-46 |
PFAM |
|
Pfam:7tm_1
|
46 |
294 |
5.6e-20 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212878
AA Change: V296I
PolyPhen 2
Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214263
AA Change: V296I
PolyPhen 2
Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214813
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216723
AA Change: V296I
PolyPhen 2
Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
A |
G |
10: 83,363,240 (GRCm39) |
L41P |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,799,233 (GRCm39) |
Q297R |
probably benign |
Het |
| Chl1 |
A |
T |
6: 103,642,814 (GRCm39) |
Q184L |
probably benign |
Het |
| Cyp2a5 |
A |
G |
7: 26,536,528 (GRCm39) |
D169G |
possibly damaging |
Het |
| Cyp2d34 |
G |
A |
15: 82,501,823 (GRCm39) |
T229M |
probably benign |
Het |
| Fgd5 |
C |
T |
6: 92,038,824 (GRCm39) |
R995* |
probably null |
Het |
| Gaa |
T |
C |
11: 119,161,394 (GRCm39) |
S146P |
probably benign |
Het |
| Gm11437 |
T |
A |
11: 84,058,144 (GRCm39) |
|
probably benign |
Het |
| Inpp5a |
T |
C |
7: 139,118,150 (GRCm39) |
F235L |
probably damaging |
Het |
| Lpp |
T |
A |
16: 24,580,816 (GRCm39) |
Y177* |
probably null |
Het |
| Malt1 |
A |
G |
18: 65,608,262 (GRCm39) |
Y654C |
probably damaging |
Het |
| Or2y10 |
T |
C |
11: 49,455,024 (GRCm39) |
I92T |
probably damaging |
Het |
| Or4k52 |
A |
C |
2: 111,611,246 (GRCm39) |
N194H |
possibly damaging |
Het |
| Otog |
A |
G |
7: 45,939,150 (GRCm39) |
N2060S |
probably damaging |
Het |
| Phc1 |
G |
A |
6: 122,311,042 (GRCm39) |
T98I |
probably damaging |
Het |
| Pik3cb |
A |
G |
9: 98,946,221 (GRCm39) |
I535T |
possibly damaging |
Het |
| Plxna2 |
A |
G |
1: 194,444,743 (GRCm39) |
I712V |
probably benign |
Het |
| Psmc2 |
A |
G |
5: 22,000,834 (GRCm39) |
E103G |
possibly damaging |
Het |
| Ptprb |
A |
G |
10: 116,179,796 (GRCm39) |
I1405V |
probably benign |
Het |
| Ralgapa1 |
T |
C |
12: 55,824,101 (GRCm39) |
N260D |
possibly damaging |
Het |
| Reln |
G |
A |
5: 22,124,173 (GRCm39) |
Q2778* |
probably null |
Het |
| Slco1a8 |
T |
C |
6: 141,936,134 (GRCm39) |
N317S |
probably benign |
Het |
| Sptlc1 |
T |
A |
13: 53,487,987 (GRCm39) |
Q452L |
probably benign |
Het |
| Traf4 |
C |
A |
11: 78,056,226 (GRCm39) |
R14L |
possibly damaging |
Het |
| Ubap2 |
T |
C |
4: 41,207,005 (GRCm39) |
E191G |
probably damaging |
Het |
| Vstm4 |
A |
T |
14: 32,641,202 (GRCm39) |
T262S |
probably benign |
Het |
| Zrsr2-ps1 |
T |
A |
11: 22,924,190 (GRCm39) |
H321Q |
probably damaging |
Het |
|
| Other mutations in Or8b4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Or8b4
|
APN |
9 |
37,830,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0399:Or8b4
|
UTSW |
9 |
37,830,849 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1537:Or8b4
|
UTSW |
9 |
37,830,570 (GRCm39) |
missense |
probably benign |
0.24 |
|
R3737:Or8b4
|
UTSW |
9 |
37,829,937 (GRCm39) |
splice site |
probably benign |
|
|
R4035:Or8b4
|
UTSW |
9 |
37,829,937 (GRCm39) |
splice site |
probably benign |
|
|
R4675:Or8b4
|
UTSW |
9 |
37,830,882 (GRCm39) |
makesense |
probably null |
|
|
R4700:Or8b4
|
UTSW |
9 |
37,830,217 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5719:Or8b4
|
UTSW |
9 |
37,830,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5824:Or8b4
|
UTSW |
9 |
37,830,861 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5940:Or8b4
|
UTSW |
9 |
37,830,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6116:Or8b4
|
UTSW |
9 |
37,829,955 (GRCm39) |
start codon destroyed |
probably null |
0.94 |
|
R6705:Or8b4
|
UTSW |
9 |
37,830,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7075:Or8b4
|
UTSW |
9 |
37,830,370 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7470:Or8b4
|
UTSW |
9 |
37,830,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8057:Or8b4
|
UTSW |
9 |
37,830,460 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9102:Or8b4
|
UTSW |
9 |
37,829,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9204:Or8b4
|
UTSW |
9 |
37,830,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9254:Or8b4
|
UTSW |
9 |
37,830,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9379:Or8b4
|
UTSW |
9 |
37,830,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9504:Or8b4
|
UTSW |
9 |
37,830,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9711:Or8b4
|
UTSW |
9 |
37,830,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation