Incidental Mutation 'R5926:Or6b2b'
| ID |
459870 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or6b2b
|
| Ensembl Gene |
ENSMUSG00000057464 |
| Gene Name |
olfactory receptor family 6 subfamily B member 2B |
| Synonyms |
MOR103-12, GA_x6K02T2R7CC-81266841-81267776, Olfr1415 |
| MMRRC Submission |
044121-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R5926 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
92418540-92419475 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 92419288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 63
(L63Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144986
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071521]
[ENSMUST00000204009]
[ENSMUST00000204766]
|
| AlphaFold |
Q7TQS4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071521
AA Change: L63Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084047
Gene: ENSMUSG00000057464
AA Change: L63Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
1.3e-53 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.2e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204009
AA Change: L63Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145446
Gene: ENSMUSG00000057464
AA Change: L63Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
1.3e-53 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.2e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204766
AA Change: L63Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144986
Gene: ENSMUSG00000057464
AA Change: L63Q
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CLECT
|
1 |
65 |
1e-7 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
A |
6: 128,537,608 (GRCm39) |
Y701F |
probably benign |
Het |
| Abra |
T |
A |
15: 41,729,650 (GRCm39) |
H250L |
probably damaging |
Het |
| Acer2 |
T |
C |
4: 86,792,805 (GRCm39) |
V27A |
probably benign |
Het |
| Arhgef15 |
A |
G |
11: 68,842,781 (GRCm39) |
L343S |
possibly damaging |
Het |
| Arnt2 |
G |
T |
7: 83,993,154 (GRCm39) |
H129N |
probably damaging |
Het |
| Atp9a |
T |
A |
2: 168,548,191 (GRCm39) |
Y63F |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,458,087 (GRCm39) |
T213A |
probably benign |
Het |
| Cdk5r1 |
T |
C |
11: 80,369,128 (GRCm39) |
|
probably null |
Het |
| Cyb5r4 |
C |
T |
9: 86,939,314 (GRCm39) |
L366F |
probably benign |
Het |
| Cyp20a1 |
T |
A |
1: 60,402,401 (GRCm39) |
I162K |
possibly damaging |
Het |
| Dcaf1 |
T |
C |
9: 106,715,561 (GRCm39) |
V226A |
probably benign |
Het |
| Ddx41 |
A |
T |
13: 55,682,112 (GRCm39) |
M232K |
probably damaging |
Het |
| Dnm1 |
C |
T |
2: 32,205,816 (GRCm39) |
V99I |
probably benign |
Het |
| Doc2a |
T |
C |
7: 126,448,697 (GRCm39) |
V134A |
probably damaging |
Het |
| Ghdc |
C |
T |
11: 100,659,063 (GRCm39) |
V380M |
possibly damaging |
Het |
| Gldn |
A |
G |
9: 54,245,722 (GRCm39) |
I424M |
possibly damaging |
Het |
| Haus6 |
A |
T |
4: 86,517,553 (GRCm39) |
H270Q |
probably benign |
Het |
| Hfe |
A |
T |
13: 23,892,247 (GRCm39) |
M39K |
probably damaging |
Het |
| Jakmip1 |
C |
T |
5: 37,242,624 (GRCm39) |
|
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,383,235 (GRCm39) |
N187S |
probably benign |
Het |
| Kcnd2 |
A |
G |
6: 21,217,084 (GRCm39) |
S263G |
probably damaging |
Het |
| Kcnh1 |
A |
G |
1: 192,095,385 (GRCm39) |
N481S |
probably benign |
Het |
| Kcnn2 |
A |
G |
18: 45,818,351 (GRCm39) |
I343V |
probably benign |
Het |
| L3hypdh |
T |
A |
12: 72,123,959 (GRCm39) |
S300C |
probably damaging |
Het |
| Lrit1 |
T |
A |
14: 36,776,966 (GRCm39) |
C29S |
probably damaging |
Het |
| Mark3 |
T |
A |
12: 111,559,168 (GRCm39) |
V70E |
probably damaging |
Het |
| Med16 |
C |
T |
10: 79,738,362 (GRCm39) |
V319M |
probably damaging |
Het |
| Mindy3 |
T |
C |
2: 12,352,911 (GRCm39) |
Y430C |
probably damaging |
Het |
| Mup5 |
A |
T |
4: 61,751,286 (GRCm39) |
F121I |
probably benign |
Het |
| Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
| Notch1 |
A |
G |
2: 26,366,116 (GRCm39) |
Y813H |
probably benign |
Het |
| Or10a3m |
T |
C |
7: 108,312,794 (GRCm39) |
L66S |
probably damaging |
Het |
| Or5p53 |
T |
C |
7: 107,533,110 (GRCm39) |
S128P |
probably damaging |
Het |
| Pi4kb |
A |
G |
3: 94,906,307 (GRCm39) |
Y301C |
probably damaging |
Het |
| Ptch1 |
A |
G |
13: 63,692,869 (GRCm39) |
S244P |
probably benign |
Het |
| Ptprn |
G |
A |
1: 75,231,242 (GRCm39) |
T554I |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,406,606 (GRCm39) |
I969V |
probably benign |
Het |
| Raf1 |
T |
C |
6: 115,596,859 (GRCm39) |
M519V |
probably benign |
Het |
| Ryr1 |
A |
G |
7: 28,803,785 (GRCm39) |
V622A |
probably damaging |
Het |
| Spaca4 |
G |
T |
7: 45,374,719 (GRCm39) |
H94Q |
probably benign |
Het |
| Spata31 |
A |
G |
13: 65,068,539 (GRCm39) |
D229G |
possibly damaging |
Het |
| Tbx6 |
G |
A |
7: 126,384,025 (GRCm39) |
A359T |
possibly damaging |
Het |
| Trpm8 |
T |
A |
1: 88,258,469 (GRCm39) |
Y251N |
probably damaging |
Het |
| Vps16 |
T |
A |
2: 130,285,476 (GRCm39) |
N806K |
probably damaging |
Het |
| Vwf |
T |
C |
6: 125,581,137 (GRCm39) |
F592L |
probably damaging |
Het |
|
| Other mutations in Or6b2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03066:Or6b2b
|
APN |
1 |
92,419,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Or6b2b
|
UTSW |
1 |
92,419,055 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0924:Or6b2b
|
UTSW |
1 |
92,419,127 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0930:Or6b2b
|
UTSW |
1 |
92,419,127 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1025:Or6b2b
|
UTSW |
1 |
92,419,445 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1201:Or6b2b
|
UTSW |
1 |
92,418,875 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1413:Or6b2b
|
UTSW |
1 |
92,418,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1510:Or6b2b
|
UTSW |
1 |
92,419,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1846:Or6b2b
|
UTSW |
1 |
92,418,822 (GRCm39) |
nonsense |
probably null |
|
|
R1850:Or6b2b
|
UTSW |
1 |
92,419,124 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1940:Or6b2b
|
UTSW |
1 |
92,419,457 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2760:Or6b2b
|
UTSW |
1 |
92,418,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4066:Or6b2b
|
UTSW |
1 |
92,418,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4837:Or6b2b
|
UTSW |
1 |
92,418,697 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5310:Or6b2b
|
UTSW |
1 |
92,418,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5503:Or6b2b
|
UTSW |
1 |
92,418,918 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5748:Or6b2b
|
UTSW |
1 |
92,418,815 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5760:Or6b2b
|
UTSW |
1 |
92,418,922 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5853:Or6b2b
|
UTSW |
1 |
92,419,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6199:Or6b2b
|
UTSW |
1 |
92,419,264 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7585:Or6b2b
|
UTSW |
1 |
92,419,042 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7627:Or6b2b
|
UTSW |
1 |
92,419,107 (GRCm39) |
nonsense |
probably null |
|
|
R7726:Or6b2b
|
UTSW |
1 |
92,419,029 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8011:Or6b2b
|
UTSW |
1 |
92,418,997 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8306:Or6b2b
|
UTSW |
1 |
92,419,247 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9142:Or6b2b
|
UTSW |
1 |
92,419,411 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGATGACTTGGTAGCGCAG -3'
(R):5'- GGGAGAACATCACCAAGGTC -3'
Sequencing Primer
(F):5'- CACATAGCGGTCATAGGCCATG -3'
(R):5'- GGTCAGCACCTTCATCCTG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation