Incidental Mutation 'IGL01079:Or51b6'
| ID |
51462 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or51b6
|
| Ensembl Gene |
ENSMUSG00000110259 |
| Gene Name |
olfactory receptor family 51 subfamily B member 6 |
| Synonyms |
MOR1-2, Olfr65, 5'[b]3, GA_x6K02T2PBJ9-6634906-6633983 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
IGL01079
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
103555549-103556654 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103555669 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 5
(I5V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150604
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106864]
[ENSMUST00000209528]
[ENSMUST00000214300]
|
| AlphaFold |
A0A1B0GSF4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106864
AA Change: I5V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102477
Gene: ENSMUSG00000110259
AA Change: I5V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
310 |
2.1e-113 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
36 |
300 |
5.6e-7 |
PFAM |
|
Pfam:7tm_1
|
42 |
293 |
5.9e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209528
AA Change: I8V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214300
AA Change: I5V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| 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: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna2d1 |
T |
A |
5: 16,575,646 (GRCm39) |
S1079T |
probably benign |
Het |
| Cstb |
T |
C |
10: 78,262,779 (GRCm39) |
S29P |
probably benign |
Het |
| Eif1ad13 |
A |
T |
12: 87,762,578 (GRCm39) |
E99D |
possibly damaging |
Het |
| F8 |
T |
A |
X: 74,330,224 (GRCm39) |
D1222V |
probably damaging |
Het |
| Fcgbpl1 |
A |
T |
7: 27,839,203 (GRCm39) |
S339C |
probably damaging |
Het |
| Gal3st1 |
A |
G |
11: 3,948,564 (GRCm39) |
E257G |
probably damaging |
Het |
| Gm5424 |
T |
C |
10: 61,907,863 (GRCm39) |
|
noncoding transcript |
Het |
| Ikbke |
A |
T |
1: 131,193,384 (GRCm39) |
D515E |
possibly damaging |
Het |
| Irag1 |
C |
T |
7: 110,545,174 (GRCm39) |
A41T |
possibly damaging |
Het |
| Or5d43 |
A |
C |
2: 88,105,060 (GRCm39) |
F111C |
probably damaging |
Het |
| Or6c209 |
T |
G |
10: 129,483,243 (GRCm39) |
L82R |
possibly damaging |
Het |
| Plekhg3 |
A |
T |
12: 76,609,052 (GRCm39) |
I142L |
possibly damaging |
Het |
| Tet1 |
G |
A |
10: 62,715,252 (GRCm39) |
T181I |
probably damaging |
Het |
| Tfcp2l1 |
T |
C |
1: 118,580,612 (GRCm39) |
V102A |
possibly damaging |
Het |
|
| Other mutations in Or51b6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02830:Or51b6
|
APN |
7 |
103,555,651 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL03238:Or51b6
|
APN |
7 |
103,555,717 (GRCm39) |
missense |
probably benign |
|
|
R0674:Or51b6
|
UTSW |
7 |
103,556,462 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1711:Or51b6
|
UTSW |
7 |
103,555,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2018:Or51b6
|
UTSW |
7 |
103,556,249 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2363:Or51b6
|
UTSW |
7 |
103,556,267 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2968:Or51b6
|
UTSW |
7 |
103,556,519 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2970:Or51b6
|
UTSW |
7 |
103,556,519 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3746:Or51b6
|
UTSW |
7 |
103,556,267 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4928:Or51b6
|
UTSW |
7 |
103,555,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5092:Or51b6
|
UTSW |
7 |
103,556,406 (GRCm39) |
nonsense |
probably null |
|
|
R5635:Or51b6
|
UTSW |
7 |
103,555,845 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5881:Or51b6
|
UTSW |
7 |
103,555,883 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5963:Or51b6
|
UTSW |
7 |
103,556,168 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5969:Or51b6
|
UTSW |
7 |
103,556,117 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6859:Or51b6
|
UTSW |
7 |
103,555,908 (GRCm39) |
nonsense |
probably null |
|
|
R7857:Or51b6
|
UTSW |
7 |
103,555,817 (GRCm39) |
missense |
|
|
|
R8065:Or51b6
|
UTSW |
7 |
103,555,610 (GRCm39) |
start gained |
probably benign |
|
|
R8067:Or51b6
|
UTSW |
7 |
103,555,610 (GRCm39) |
start gained |
probably benign |
|
|
R8381:Or51b6
|
UTSW |
7 |
103,556,146 (GRCm39) |
missense |
|
|
|
R8501:Or51b6
|
UTSW |
7 |
103,555,818 (GRCm39) |
missense |
|
|
|
R8737:Or51b6
|
UTSW |
7 |
103,555,913 (GRCm39) |
missense |
|
|
|
R8796:Or51b6
|
UTSW |
7 |
103,556,201 (GRCm39) |
missense |
|
|
|
R9007:Or51b6
|
UTSW |
7 |
103,556,165 (GRCm39) |
missense |
|
|
|
R9455:Or51b6
|
UTSW |
7 |
103,556,200 (GRCm39) |
missense |
|
|
|
R9591:Or51b6
|
UTSW |
7 |
103,556,470 (GRCm39) |
missense |
|
|
|
X0065:Or51b6
|
UTSW |
7 |
103,556,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation