Incidental Mutation 'R1262:Or51b6b'
| ID |
151625 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or51b6b
|
| Ensembl Gene |
ENSMUSG00000099687 |
| Gene Name |
olfactory receptor family 51 subfamily B member 6B |
| Synonyms |
Olfr623, GA_x6K02T2PBJ9-6384836-6383883, MOR1-4 |
| MMRRC Submission |
039329-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
R1262 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
103309451-103310525 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 103309648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 270
(P270S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150141
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068531]
[ENSMUST00000213840]
|
| AlphaFold |
E9Q382 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068531
AA Change: P270S
PolyPhen 2
Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000070658
Gene: ENSMUSG00000099687
AA Change: P270S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
310 |
1.7e-112 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
36 |
299 |
3.1e-7 |
PFAM |
|
Pfam:7tm_1
|
42 |
293 |
2.6e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213840
AA Change: P270S
PolyPhen 2
Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.7%
|
| 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 |
|---|
| Aak1 |
T |
C |
6: 86,912,470 (GRCm39) |
V114A |
probably benign |
Het |
| BC048679 |
A |
G |
7: 81,145,089 (GRCm39) |
F85L |
probably benign |
Het |
| Btbd7 |
A |
G |
12: 102,754,210 (GRCm39) |
I852T |
probably benign |
Het |
| Cenpk |
T |
A |
13: 104,367,293 (GRCm39) |
V43E |
possibly damaging |
Het |
| Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
| Cyp2b10 |
C |
T |
7: 25,614,836 (GRCm39) |
T281M |
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 103,069,998 (GRCm39) |
D6G |
possibly damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Nipsnap3b |
G |
T |
4: 53,015,166 (GRCm39) |
G71V |
probably damaging |
Het |
| Or52h1 |
A |
G |
7: 103,828,623 (GRCm39) |
|
probably null |
Het |
| Snx25 |
T |
A |
8: 46,558,328 (GRCm39) |
R80S |
probably damaging |
Het |
| Syt6 |
A |
T |
3: 103,492,656 (GRCm39) |
|
probably null |
Het |
| Tas1r2 |
G |
A |
4: 139,382,599 (GRCm39) |
R79Q |
probably damaging |
Het |
| Ttc7 |
C |
T |
17: 87,648,364 (GRCm39) |
T521I |
probably benign |
Het |
|
| Other mutations in Or51b6b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00969:Or51b6b
|
APN |
7 |
103,310,274 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01669:Or51b6b
|
APN |
7 |
103,310,194 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01731:Or51b6b
|
APN |
7 |
103,310,053 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02057:Or51b6b
|
APN |
7 |
103,309,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02249:Or51b6b
|
APN |
7 |
103,309,573 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02937:Or51b6b
|
APN |
7 |
103,310,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03113:Or51b6b
|
APN |
7 |
103,309,851 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0413:Or51b6b
|
UTSW |
7 |
103,309,957 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0862:Or51b6b
|
UTSW |
7 |
103,309,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1791:Or51b6b
|
UTSW |
7 |
103,310,005 (GRCm39) |
splice site |
probably null |
|
|
R2327:Or51b6b
|
UTSW |
7 |
103,309,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2338:Or51b6b
|
UTSW |
7 |
103,309,617 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4521:Or51b6b
|
UTSW |
7 |
103,309,539 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4831:Or51b6b
|
UTSW |
7 |
103,309,678 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5322:Or51b6b
|
UTSW |
7 |
103,309,879 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6270:Or51b6b
|
UTSW |
7 |
103,309,620 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6959:Or51b6b
|
UTSW |
7 |
103,310,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7157:Or51b6b
|
UTSW |
7 |
103,309,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7181:Or51b6b
|
UTSW |
7 |
103,310,020 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7570:Or51b6b
|
UTSW |
7 |
103,310,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9037:Or51b6b
|
UTSW |
7 |
103,310,382 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9234:Or51b6b
|
UTSW |
7 |
103,309,950 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9525:Or51b6b
|
UTSW |
7 |
103,310,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Or51b6b
|
UTSW |
7 |
103,309,867 (GRCm39) |
missense |
probably benign |
0.18 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTGTGTCAAGCTCATTTGACTCTG -3'
(R):5'- TGTGCTGACATCACATTCAATCGTCTC -3'
Sequencing Primer
(F):5'- TTAGCCCTAGATAAGTGACAGC -3'
(R):5'- GACATCACATTCAATCGTCTCTATCC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation