Incidental Mutation 'IGL01597:Or51b17'
| ID |
91701 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or51b17
|
| Ensembl Gene |
ENSMUSG00000063615 |
| Gene Name |
olfactory receptor family 51 subfamily B member 17 |
| Synonyms |
GA_x6K02T2PBJ9-6648196-6649143, Olfr64, 5'[b]2, MOR1-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.248)
|
| Stock # |
IGL01597
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
103542017-103543678 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103542303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 213
(V213A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081748]
|
| AlphaFold |
F8VPZ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081748
AA Change: V213A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000080444
Gene: ENSMUSG00000063615
AA Change: V213A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
307 |
2.4e-113 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
33 |
295 |
4.2e-6 |
PFAM |
|
Pfam:7tm_1
|
39 |
290 |
1.1e-22 |
PFAM |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna2d1 |
A |
T |
5: 16,531,390 (GRCm39) |
|
probably benign |
Het |
| Cdk12 |
A |
G |
11: 98,141,090 (GRCm39) |
|
probably benign |
Het |
| Ces1e |
T |
A |
8: 93,937,001 (GRCm39) |
I357F |
probably benign |
Het |
| Dicer1 |
G |
A |
12: 104,671,469 (GRCm39) |
R934* |
probably null |
Het |
| Dnah9 |
A |
T |
11: 66,009,656 (GRCm39) |
Y744N |
probably damaging |
Het |
| Fgd5 |
T |
A |
6: 91,964,910 (GRCm39) |
I381N |
probably damaging |
Het |
| Gabrg1 |
T |
C |
5: 70,939,691 (GRCm39) |
D147G |
probably damaging |
Het |
| Gpsm2 |
A |
T |
3: 108,604,303 (GRCm39) |
M385K |
probably benign |
Het |
| Hivep2 |
C |
T |
10: 14,025,118 (GRCm39) |
Q2311* |
probably null |
Het |
| Or51ah3 |
A |
G |
7: 103,210,349 (GRCm39) |
I222V |
possibly damaging |
Het |
| Or5c1 |
A |
C |
2: 37,222,023 (GRCm39) |
D88A |
possibly damaging |
Het |
| Or7e173 |
A |
T |
9: 19,938,982 (GRCm39) |
M84K |
probably damaging |
Het |
| Papss2 |
G |
A |
19: 32,615,658 (GRCm39) |
R130H |
probably damaging |
Het |
| Pik3r5 |
A |
T |
11: 68,386,827 (GRCm39) |
I819F |
probably damaging |
Het |
| Pipox |
A |
G |
11: 77,774,019 (GRCm39) |
V199A |
probably damaging |
Het |
| Pkd1l3 |
G |
T |
8: 110,350,153 (GRCm39) |
V333L |
probably benign |
Het |
| Rbl1 |
A |
G |
2: 157,037,369 (GRCm39) |
|
probably benign |
Het |
| Scyl2 |
T |
A |
10: 89,488,849 (GRCm39) |
I489F |
probably damaging |
Het |
| Serinc4 |
T |
A |
2: 121,285,472 (GRCm39) |
L100F |
probably damaging |
Het |
| Slc39a12 |
T |
A |
2: 14,439,120 (GRCm39) |
F458Y |
possibly damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,080,652 (GRCm39) |
|
probably benign |
Het |
| Syngr4 |
T |
C |
7: 45,536,390 (GRCm39) |
T211A |
probably benign |
Het |
| Taar8a |
T |
C |
10: 23,952,756 (GRCm39) |
L120P |
possibly damaging |
Het |
| Tbx10 |
A |
G |
19: 4,046,736 (GRCm39) |
K72R |
probably benign |
Het |
| Tomm70a |
A |
G |
16: 56,953,551 (GRCm39) |
T149A |
probably benign |
Het |
| Traip |
T |
A |
9: 107,833,123 (GRCm39) |
|
probably null |
Het |
| Trpm3 |
G |
A |
19: 22,692,610 (GRCm39) |
G234R |
probably damaging |
Het |
| Tubgcp5 |
A |
G |
7: 55,456,580 (GRCm39) |
|
probably benign |
Het |
| Vstm5 |
T |
C |
9: 15,168,675 (GRCm39) |
W80R |
probably damaging |
Het |
| Vwa5a |
A |
T |
9: 38,645,161 (GRCm39) |
R415S |
probably damaging |
Het |
| Zfp39 |
A |
G |
11: 58,782,369 (GRCm39) |
V131A |
probably damaging |
Het |
|
| Other mutations in Or51b17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00934:Or51b17
|
APN |
7 |
103,542,071 (GRCm39) |
nonsense |
probably null |
|
|
IGL01868:Or51b17
|
APN |
7 |
103,542,583 (GRCm39) |
nonsense |
probably null |
|
|
IGL02502:Or51b17
|
APN |
7 |
103,542,696 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0294:Or51b17
|
UTSW |
7 |
103,542,137 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0534:Or51b17
|
UTSW |
7 |
103,542,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0838:Or51b17
|
UTSW |
7 |
103,542,622 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1350:Or51b17
|
UTSW |
7 |
103,542,937 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1733:Or51b17
|
UTSW |
7 |
103,542,118 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1768:Or51b17
|
UTSW |
7 |
103,542,484 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1780:Or51b17
|
UTSW |
7 |
103,542,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1836:Or51b17
|
UTSW |
7 |
103,542,592 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1956:Or51b17
|
UTSW |
7 |
103,542,925 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2075:Or51b17
|
UTSW |
7 |
103,542,127 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4677:Or51b17
|
UTSW |
7 |
103,542,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4884:Or51b17
|
UTSW |
7 |
103,542,862 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4899:Or51b17
|
UTSW |
7 |
103,542,672 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5753:Or51b17
|
UTSW |
7 |
103,542,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6351:Or51b17
|
UTSW |
7 |
103,542,342 (GRCm39) |
nonsense |
probably null |
|
|
R6997:Or51b17
|
UTSW |
7 |
103,542,238 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8319:Or51b17
|
UTSW |
7 |
103,542,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8337:Or51b17
|
UTSW |
7 |
103,542,256 (GRCm39) |
missense |
probably benign |
|
|
R8984:Or51b17
|
UTSW |
7 |
103,542,816 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9780:Or51b17
|
UTSW |
7 |
103,542,631 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0017:Or51b17
|
UTSW |
7 |
103,542,358 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation