Incidental Mutation 'IGL01685:Or8b3'
| ID |
103914 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or8b3
|
| Ensembl Gene |
ENSMUSG00000049098 |
| Gene Name |
olfactory receptor family 8 subfamily B member 3 |
| Synonyms |
MOR164-1, M3, GA_x6K02T2PVTD-32098059-32099003, Olfr147 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
IGL01685
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
38313007-38315125 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38314317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 46
(I46T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056364]
[ENSMUST00000214648]
|
| AlphaFold |
Q60886 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056364
AA Change: I49T
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000051933
Gene: ENSMUSG00000049098
AA Change: I49T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
34 |
310 |
1.2e-48 |
PFAM |
|
Pfam:7tm_1
|
44 |
292 |
2.8e-23 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214648
AA Change: I46T
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
G |
T |
15: 94,301,327 (GRCm39) |
R66S |
possibly damaging |
Het |
| Adamtsl4 |
A |
G |
3: 95,591,905 (GRCm39) |
V61A |
possibly damaging |
Het |
| Arnt |
A |
G |
3: 95,381,992 (GRCm39) |
Y195C |
probably damaging |
Het |
| Brd3 |
A |
G |
2: 27,349,500 (GRCm39) |
I351T |
probably damaging |
Het |
| Cd28 |
T |
A |
1: 60,802,307 (GRCm39) |
Y75* |
probably null |
Het |
| Cyfip2 |
A |
G |
11: 46,098,315 (GRCm39) |
|
probably benign |
Het |
| Dip2a |
T |
G |
10: 76,163,583 (GRCm39) |
E39A |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,209,533 (GRCm39) |
V1200A |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,142,297 (GRCm39) |
L1216P |
probably damaging |
Het |
| Ecm2 |
A |
T |
13: 49,682,374 (GRCm39) |
I468F |
probably damaging |
Het |
| Gucy1b1 |
C |
A |
3: 81,942,592 (GRCm39) |
V517F |
probably benign |
Het |
| H2-T23 |
T |
C |
17: 36,343,536 (GRCm39) |
Q9R |
probably benign |
Het |
| Huwe1 |
T |
C |
X: 150,681,666 (GRCm39) |
|
probably benign |
Het |
| Hydin |
A |
T |
8: 111,081,665 (GRCm39) |
K354* |
probably null |
Het |
| Ighv14-2 |
A |
T |
12: 113,958,121 (GRCm39) |
S107T |
probably damaging |
Het |
| Klk1b8 |
A |
C |
7: 43,604,294 (GRCm39) |
K254T |
possibly damaging |
Het |
| Lama3 |
T |
A |
18: 12,586,937 (GRCm39) |
|
probably benign |
Het |
| Macroh2a2 |
C |
T |
10: 61,593,550 (GRCm39) |
S42N |
probably damaging |
Het |
| Mbd6 |
G |
T |
10: 127,120,601 (GRCm39) |
|
probably benign |
Het |
| Mob1a |
A |
T |
6: 83,309,485 (GRCm39) |
E32D |
probably benign |
Het |
| Mrps27 |
A |
T |
13: 99,551,428 (GRCm39) |
Q397L |
possibly damaging |
Het |
| Pcdhb18 |
A |
C |
18: 37,624,984 (GRCm39) |
K771N |
probably benign |
Het |
| Pcdhgc5 |
T |
G |
18: 37,954,808 (GRCm39) |
L694R |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,143,066 (GRCm39) |
D815E |
probably benign |
Het |
| Plin4 |
T |
C |
17: 56,414,362 (GRCm39) |
K88E |
probably damaging |
Het |
| Rint1 |
A |
T |
5: 23,992,832 (GRCm39) |
|
probably benign |
Het |
| Ssbp1 |
A |
G |
6: 40,453,699 (GRCm39) |
T82A |
probably damaging |
Het |
| Trpm5 |
A |
T |
7: 142,636,091 (GRCm39) |
S558T |
probably benign |
Het |
| Tti1 |
A |
G |
2: 157,842,705 (GRCm39) |
S775P |
probably benign |
Het |
| Zic3 |
T |
C |
X: 57,077,088 (GRCm39) |
V183A |
probably benign |
Het |
|
| Other mutations in Or8b3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02109:Or8b3
|
APN |
9 |
38,314,382 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02805:Or8b3
|
APN |
9 |
38,315,132 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02875:Or8b3
|
APN |
9 |
38,314,472 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1133:Or8b3
|
UTSW |
9 |
38,315,027 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1446:Or8b3
|
UTSW |
9 |
38,314,601 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1591:Or8b3
|
UTSW |
9 |
38,314,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1719:Or8b3
|
UTSW |
9 |
38,314,550 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1895:Or8b3
|
UTSW |
9 |
38,314,182 (GRCm39) |
start codon destroyed |
probably null |
0.88 |
|
R1946:Or8b3
|
UTSW |
9 |
38,314,182 (GRCm39) |
start codon destroyed |
probably null |
0.88 |
|
R1981:Or8b3
|
UTSW |
9 |
38,315,031 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2033:Or8b3
|
UTSW |
9 |
38,314,669 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4856:Or8b3
|
UTSW |
9 |
38,314,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5322:Or8b3
|
UTSW |
9 |
38,314,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6017:Or8b3
|
UTSW |
9 |
38,314,916 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6037:Or8b3
|
UTSW |
9 |
38,314,601 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6037:Or8b3
|
UTSW |
9 |
38,314,601 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7032:Or8b3
|
UTSW |
9 |
38,314,965 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7042:Or8b3
|
UTSW |
9 |
38,314,196 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7351:Or8b3
|
UTSW |
9 |
38,314,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7460:Or8b3
|
UTSW |
9 |
38,314,649 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7820:Or8b3
|
UTSW |
9 |
38,314,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8161:Or8b3
|
UTSW |
9 |
38,314,803 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8196:Or8b3
|
UTSW |
9 |
38,314,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9103:Or8b3
|
UTSW |
9 |
38,314,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9213:Or8b3
|
UTSW |
9 |
38,315,047 (GRCm39) |
nonsense |
probably null |
|
|
R9717:Or8b3
|
UTSW |
9 |
38,314,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation