Incidental Mutation 'R2970:Or51b6'
| ID |
255214 |
| Institutional Source |
Beutler Lab
|
| 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: 0.128)
|
| Stock # |
R2970 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
103555549-103556654 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103556519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 291
(V291A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147914
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106864]
[ENSMUST00000209528]
[ENSMUST00000214300]
|
| AlphaFold |
A0A1B0GSF4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106864
AA Change: V288A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000102477
Gene: ENSMUSG00000110259
AA Change: V288A
| 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: V291A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214300
AA Change: V288A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff3 |
A |
G |
1: 38,574,103 (GRCm39) |
S253P |
probably damaging |
Het |
| Arhgap12 |
A |
T |
18: 6,111,732 (GRCm39) |
S211T |
probably damaging |
Het |
| Ccdc186 |
T |
G |
19: 56,795,430 (GRCm39) |
N416H |
probably damaging |
Het |
| Eipr1 |
A |
T |
12: 28,897,593 (GRCm39) |
I152F |
probably benign |
Het |
| Enpp7 |
T |
C |
11: 118,881,472 (GRCm39) |
S206P |
probably damaging |
Het |
| Ighv8-12 |
C |
T |
12: 115,611,570 (GRCm39) |
R118Q |
probably benign |
Het |
| Mrgprb5 |
T |
A |
7: 47,818,317 (GRCm39) |
R139S |
probably damaging |
Het |
| Nipbl |
C |
A |
15: 8,340,723 (GRCm39) |
C1999F |
probably damaging |
Het |
| Or10d4c |
T |
C |
9: 39,558,195 (GRCm39) |
Y58H |
probably damaging |
Het |
| Or5m11b |
T |
C |
2: 85,806,454 (GRCm39) |
I289T |
possibly damaging |
Het |
| Pcnx2 |
A |
C |
8: 126,528,275 (GRCm39) |
L1315R |
probably damaging |
Het |
| Ric1 |
A |
G |
19: 29,555,118 (GRCm39) |
T411A |
probably benign |
Het |
| Rnf133 |
T |
C |
6: 23,649,405 (GRCm39) |
I175V |
probably benign |
Het |
| Serpina3n |
C |
T |
12: 104,375,333 (GRCm39) |
T135M |
probably benign |
Het |
| Slc10a5 |
C |
A |
3: 10,400,127 (GRCm39) |
G178W |
probably damaging |
Het |
| Spam1 |
A |
T |
6: 24,796,724 (GRCm39) |
N225I |
probably damaging |
Het |
| St7 |
A |
T |
6: 17,844,908 (GRCm39) |
E132V |
probably damaging |
Het |
| Styxl2 |
C |
T |
1: 165,926,798 (GRCm39) |
S938N |
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Trbv13-1 |
A |
G |
6: 41,093,310 (GRCm39) |
K81R |
possibly damaging |
Het |
| Trp53bp2 |
T |
C |
1: 182,259,163 (GRCm39) |
L72P |
probably damaging |
Het |
| Vipas39 |
T |
C |
12: 87,289,345 (GRCm39) |
N373S |
probably benign |
Het |
| Vmn1r71 |
T |
C |
7: 10,482,641 (GRCm39) |
T16A |
possibly damaging |
Het |
|
| Other mutations in Or51b6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01079:Or51b6
|
APN |
7 |
103,555,669 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATGGTCTTGCTAGATTTCCTG -3'
(R):5'- GCAGAGGAGTTAGTATGTCTCTAC -3'
Sequencing Primer
(F):5'- CTCAAGACTGTCATGGGCATTGC -3'
(R):5'- GTCTCTACTAAAGTATTTTGCATGGG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation