Incidental Mutation 'IGL02747:Or8b3b'
| ID |
306076 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or8b3b
|
| Ensembl Gene |
ENSMUSG00000046150 |
| Gene Name |
olfactory receptor family 8 subfamily B member 3B |
| Synonyms |
GA_x6K02T2PVTD-32375756-32374818, MOR164-3, Olfr918 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.259)
|
| Stock # |
IGL02747
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
38583800-38584777 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38584380 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 133
(Y133C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057210
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055099]
[ENSMUST00000215461]
|
| AlphaFold |
E9PVZ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055099
AA Change: Y133C
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000057210
Gene: ENSMUSG00000046150
AA Change: Y133C
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
9 |
31 |
N/A |
INTRINSIC |
|
Pfam:7tm_4
|
44 |
319 |
6.5e-48 |
PFAM |
|
Pfam:7tm_1
|
54 |
301 |
3.9e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213750
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215461
AA Change: Y120C
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216579
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,323,282 (GRCm39) |
L3373* |
probably null |
Het |
| Ap1s3 |
T |
C |
1: 79,601,409 (GRCm39) |
Y94C |
probably damaging |
Het |
| Dbx2 |
T |
C |
15: 95,530,320 (GRCm39) |
T216A |
probably benign |
Het |
| Dsg4 |
A |
G |
18: 20,579,995 (GRCm39) |
R67G |
probably damaging |
Het |
| Eng |
G |
A |
2: 32,562,970 (GRCm39) |
|
probably null |
Het |
| Gm28042 |
T |
A |
2: 119,861,875 (GRCm39) |
I206N |
probably damaging |
Het |
| Gsdmc4 |
C |
T |
15: 63,765,720 (GRCm39) |
M276I |
probably benign |
Het |
| Itih2 |
A |
G |
2: 10,102,756 (GRCm39) |
S793P |
probably benign |
Het |
| Kcnj13 |
T |
C |
1: 87,317,087 (GRCm39) |
N9D |
probably benign |
Het |
| Kics2 |
A |
C |
10: 121,581,455 (GRCm39) |
Q152P |
possibly damaging |
Het |
| Krt78 |
T |
A |
15: 101,858,819 (GRCm39) |
|
probably benign |
Het |
| Megf10 |
A |
G |
18: 57,423,565 (GRCm39) |
K985E |
probably benign |
Het |
| Naa25 |
A |
G |
5: 121,552,668 (GRCm39) |
|
probably benign |
Het |
| Plekhm2 |
T |
C |
4: 141,361,583 (GRCm39) |
T307A |
possibly damaging |
Het |
| Ppp1cc |
A |
G |
5: 122,312,136 (GRCm39) |
K301E |
probably benign |
Het |
| Ralgds |
T |
C |
2: 28,438,122 (GRCm39) |
|
probably benign |
Het |
| Rccd1 |
A |
T |
7: 79,970,238 (GRCm39) |
D126E |
probably benign |
Het |
| Reps1 |
T |
C |
10: 17,999,348 (GRCm39) |
S712P |
probably damaging |
Het |
| Rnf103 |
T |
A |
6: 71,486,161 (GRCm39) |
I264N |
probably damaging |
Het |
| Rpap1 |
A |
G |
2: 119,604,609 (GRCm39) |
I433T |
probably damaging |
Het |
| Ryr2 |
T |
G |
13: 11,670,563 (GRCm39) |
N3478H |
probably damaging |
Het |
| Sox30 |
A |
G |
11: 45,871,772 (GRCm39) |
D209G |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,088,981 (GRCm39) |
F628S |
probably damaging |
Het |
| Tas1r3 |
C |
T |
4: 155,944,917 (GRCm39) |
G768D |
possibly damaging |
Het |
| Tesk2 |
T |
C |
4: 116,660,076 (GRCm39) |
V398A |
probably benign |
Het |
| Tmem135 |
A |
T |
7: 88,793,878 (GRCm39) |
I388N |
probably damaging |
Het |
| Tpgs2 |
A |
G |
18: 25,272,202 (GRCm39) |
|
probably benign |
Het |
| Vmn2r120 |
G |
A |
17: 57,831,719 (GRCm39) |
H357Y |
probably benign |
Het |
|
| Other mutations in Or8b3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00958:Or8b3b
|
APN |
9 |
38,584,320 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01388:Or8b3b
|
APN |
9 |
38,584,379 (GRCm39) |
nonsense |
probably null |
|
|
IGL01516:Or8b3b
|
APN |
9 |
38,584,159 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02121:Or8b3b
|
APN |
9 |
38,584,711 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02209:Or8b3b
|
APN |
9 |
38,584,342 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02256:Or8b3b
|
APN |
9 |
38,584,776 (GRCm39) |
start codon destroyed |
probably null |
|
|
IGL02517:Or8b3b
|
APN |
9 |
38,584,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02648:Or8b3b
|
APN |
9 |
38,584,312 (GRCm39) |
missense |
probably benign |
|
|
IGL02971:Or8b3b
|
APN |
9 |
38,584,564 (GRCm39) |
missense |
probably damaging |
0.96 |
|
E0370:Or8b3b
|
UTSW |
9 |
38,583,857 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0616:Or8b3b
|
UTSW |
9 |
38,584,776 (GRCm39) |
start codon destroyed |
probably null |
|
|
R2173:Or8b3b
|
UTSW |
9 |
38,584,240 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2989:Or8b3b
|
UTSW |
9 |
38,583,831 (GRCm39) |
missense |
probably benign |
|
|
R3430:Or8b3b
|
UTSW |
9 |
38,584,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3809:Or8b3b
|
UTSW |
9 |
38,584,159 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4688:Or8b3b
|
UTSW |
9 |
38,584,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4702:Or8b3b
|
UTSW |
9 |
38,584,776 (GRCm39) |
start codon destroyed |
probably null |
|
|
R5548:Or8b3b
|
UTSW |
9 |
38,584,600 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5590:Or8b3b
|
UTSW |
9 |
38,584,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6082:Or8b3b
|
UTSW |
9 |
38,583,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6214:Or8b3b
|
UTSW |
9 |
38,584,510 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6215:Or8b3b
|
UTSW |
9 |
38,584,510 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6893:Or8b3b
|
UTSW |
9 |
38,584,355 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7215:Or8b3b
|
UTSW |
9 |
38,584,743 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7624:Or8b3b
|
UTSW |
9 |
38,583,919 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7862:Or8b3b
|
UTSW |
9 |
38,584,624 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8116:Or8b3b
|
UTSW |
9 |
38,584,464 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8897:Or8b3b
|
UTSW |
9 |
38,584,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8899:Or8b3b
|
UTSW |
9 |
38,584,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9114:Or8b3b
|
UTSW |
9 |
38,583,892 (GRCm39) |
missense |
probably benign |
|
|
R9293:Or8b3b
|
UTSW |
9 |
38,584,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9311:Or8b3b
|
UTSW |
9 |
38,583,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9690:Or8b3b
|
UTSW |
9 |
38,584,477 (GRCm39) |
nonsense |
probably null |
|
|
R9734:Or8b3b
|
UTSW |
9 |
38,584,239 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation