Incidental Mutation 'R5733:Or6b1'
| ID |
451534 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or6b1
|
| Ensembl Gene |
ENSMUSG00000049168 |
| Gene Name |
olfactory receptor family 6 subfamily B member 1 |
| Synonyms |
Olfr449, GA_x6K02T2P3E9-4722003-4721068, MOR103-1 |
| MMRRC Submission |
043193-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R5733 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
42811350-42815816 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 42815180 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 122
(R122C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145055
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050729]
[ENSMUST00000204072]
[ENSMUST00000204229]
[ENSMUST00000214687]
|
| AlphaFold |
Q8VGW8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050729
AA Change: R122C
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000059233
Gene: ENSMUSG00000049168
AA Change: R122C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
306 |
2.7e-52 |
PFAM |
|
Pfam:7tm_1
|
41 |
288 |
2e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203135
AA Change: R122C
|
| SMART Domains |
Protein: ENSMUSP00000144965
Gene: ENSMUSG00000049168
AA Change: R122C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
193 |
2.1e-32 |
PFAM |
|
Pfam:7tm_1
|
41 |
193 |
7.7e-20 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204072
AA Change: R122C
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204229
AA Change: R122C
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000145055
Gene: ENSMUSG00000049168
AA Change: R122C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
130 |
1.7e-20 |
PFAM |
|
Pfam:7tm_1
|
41 |
130 |
2.6e-14 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214687
AA Change: R122C
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 97.0%
- 20x: 95.0%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
T |
A |
5: 35,762,543 (GRCm39) |
|
probably null |
Het |
| Ahnak2 |
A |
T |
12: 112,742,100 (GRCm39) |
Y657* |
probably null |
Het |
| Anxa3 |
T |
A |
5: 96,968,331 (GRCm39) |
I128N |
probably damaging |
Het |
| Bsnd |
T |
C |
4: 106,345,198 (GRCm39) |
T83A |
probably benign |
Het |
| Capn10 |
A |
G |
1: 92,871,635 (GRCm39) |
Y411C |
probably benign |
Het |
| Capn3 |
G |
A |
2: 120,315,075 (GRCm39) |
W201* |
probably null |
Het |
| Crtap |
T |
C |
9: 114,207,164 (GRCm39) |
T365A |
probably benign |
Het |
| Daam1 |
A |
G |
12: 71,992,272 (GRCm39) |
D329G |
unknown |
Het |
| Dmxl2 |
A |
T |
9: 54,283,550 (GRCm39) |
L2761Q |
possibly damaging |
Het |
| Fcho2 |
A |
C |
13: 98,926,310 (GRCm39) |
V91G |
probably damaging |
Het |
| Fen1 |
A |
T |
19: 10,178,022 (GRCm39) |
C141S |
possibly damaging |
Het |
| Fkbp15 |
G |
C |
4: 62,225,166 (GRCm39) |
A831G |
probably benign |
Het |
| Frmd4a |
A |
T |
2: 4,305,768 (GRCm39) |
R14S |
possibly damaging |
Het |
| Fzr1 |
A |
G |
10: 81,206,160 (GRCm39) |
F176L |
possibly damaging |
Het |
| Garem2 |
A |
G |
5: 30,321,336 (GRCm39) |
D565G |
probably damaging |
Het |
| Garre1 |
A |
T |
7: 33,944,505 (GRCm39) |
S76T |
probably damaging |
Het |
| Iqca1 |
G |
T |
1: 89,998,257 (GRCm39) |
T549K |
probably damaging |
Het |
| Itgax |
T |
A |
7: 127,739,647 (GRCm39) |
S686R |
probably damaging |
Het |
| Knop1 |
C |
A |
7: 118,445,305 (GRCm39) |
G220C |
probably damaging |
Het |
| Lyzl1 |
T |
A |
18: 4,169,142 (GRCm39) |
C49S |
probably damaging |
Het |
| Mpzl1 |
A |
T |
1: 165,433,180 (GRCm39) |
I157K |
probably benign |
Het |
| Mrgprb2 |
T |
C |
7: 48,202,261 (GRCm39) |
I155V |
probably benign |
Het |
| Mucl3 |
T |
C |
17: 35,949,102 (GRCm39) |
M166V |
probably benign |
Het |
| Mvb12b |
T |
C |
2: 33,717,728 (GRCm39) |
T167A |
probably benign |
Het |
| Myh3 |
A |
G |
11: 66,979,445 (GRCm39) |
N491S |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,787,128 (GRCm39) |
D511G |
possibly damaging |
Het |
| Or10ak8 |
C |
T |
4: 118,774,035 (GRCm39) |
V210I |
probably benign |
Het |
| Or11h4 |
T |
C |
14: 50,974,509 (GRCm39) |
T37A |
probably benign |
Het |
| Or8k21 |
T |
G |
2: 86,145,558 (GRCm39) |
Q24P |
probably damaging |
Het |
| Ptcd1 |
A |
G |
5: 145,091,671 (GRCm39) |
M476T |
probably damaging |
Het |
| Pum3 |
A |
G |
19: 27,398,695 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
G |
A |
10: 58,321,658 (GRCm39) |
D2652N |
probably damaging |
Het |
| Rassf1 |
T |
C |
9: 107,435,213 (GRCm39) |
V166A |
probably damaging |
Het |
| Rictor |
A |
G |
15: 6,812,585 (GRCm39) |
H907R |
probably benign |
Het |
| Rorb |
T |
C |
19: 18,965,471 (GRCm39) |
E6G |
probably damaging |
Het |
| Serpina3f |
A |
T |
12: 104,183,182 (GRCm39) |
T15S |
possibly damaging |
Het |
| Sorbs2 |
T |
C |
8: 46,212,226 (GRCm39) |
L100P |
probably damaging |
Het |
| Sprr2k |
T |
C |
3: 92,340,655 (GRCm39) |
|
probably benign |
Het |
| Srrm2 |
T |
A |
17: 24,040,360 (GRCm39) |
S2431T |
probably damaging |
Het |
| Stox2 |
T |
A |
8: 47,866,172 (GRCm39) |
K57* |
probably null |
Het |
| Ttc21a |
G |
A |
9: 119,770,327 (GRCm39) |
V133I |
probably benign |
Het |
| Vasn |
T |
C |
16: 4,468,026 (GRCm39) |
Y658H |
possibly damaging |
Het |
| Zfp251 |
A |
G |
15: 76,754,527 (GRCm39) |
Y35H |
probably damaging |
Het |
|
| Other mutations in Or6b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01904:Or6b1
|
APN |
6 |
42,815,223 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02193:Or6b1
|
APN |
6 |
42,815,753 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02496:Or6b1
|
APN |
6 |
42,815,738 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03302:Or6b1
|
APN |
6 |
42,814,937 (GRCm39) |
nonsense |
probably null |
|
|
IGL03333:Or6b1
|
APN |
6 |
42,815,637 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1340:Or6b1
|
UTSW |
6 |
42,814,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1926:Or6b1
|
UTSW |
6 |
42,815,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2418:Or6b1
|
UTSW |
6 |
42,814,983 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4837:Or6b1
|
UTSW |
6 |
42,814,783 (GRCm39) |
splice site |
probably null |
|
|
R5466:Or6b1
|
UTSW |
6 |
42,815,027 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6411:Or6b1
|
UTSW |
6 |
42,815,654 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6626:Or6b1
|
UTSW |
6 |
42,815,582 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6912:Or6b1
|
UTSW |
6 |
42,815,736 (GRCm39) |
missense |
probably benign |
|
|
R7278:Or6b1
|
UTSW |
6 |
42,811,330 (GRCm39) |
splice site |
probably null |
|
|
R7399:Or6b1
|
UTSW |
6 |
42,815,680 (GRCm39) |
nonsense |
probably null |
|
|
R7703:Or6b1
|
UTSW |
6 |
42,814,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8325:Or6b1
|
UTSW |
6 |
42,815,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9182:Or6b1
|
UTSW |
6 |
42,815,010 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1176:Or6b1
|
UTSW |
6 |
42,814,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Or6b1
|
UTSW |
6 |
42,815,310 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAACCTGTCTTTCTTGGAGAC -3'
(R):5'- AGCTCTGCAATGGACATGTC -3'
Sequencing Primer
(F):5'- GGAGACCTGGTACATCTCTGTTAC -3'
(R):5'- CTCTGCAATGGACATGTCTGTGC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation