Incidental Mutation 'R1053:Or1b1'
| ID |
94098 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1b1
|
| Ensembl Gene |
ENSMUSG00000075377 |
| Gene Name |
olfactory receptor family 1 subfamily B member 1 |
| Synonyms |
Olfr362, GA_x6K02T2NLDC-33797415-33796462, MOR158-1 |
| MMRRC Submission |
039143-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R1053 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
36994707-36995660 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36995476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 62
(Y62C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150819
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100144]
[ENSMUST00000213817]
[ENSMUST00000215927]
|
| AlphaFold |
Q8VGV7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100144
AA Change: Y62C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097722
Gene: ENSMUSG00000075377
AA Change: Y62C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
313 |
6.3e-50 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
36 |
164 |
1.6e-7 |
PFAM |
|
Pfam:7tm_1
|
42 |
295 |
1.3e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119049
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213817
AA Change: Y62C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215927
AA Change: Y62C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
A |
T |
8: 41,207,768 (GRCm39) |
N345Y |
probably benign |
Het |
| Ampd3 |
G |
A |
7: 110,387,887 (GRCm39) |
G107S |
probably damaging |
Het |
| Bcas3 |
T |
A |
11: 85,448,236 (GRCm39) |
I632N |
probably benign |
Het |
| Cald1 |
G |
T |
6: 34,732,577 (GRCm39) |
R83L |
probably damaging |
Het |
| Cds2 |
T |
A |
2: 132,147,180 (GRCm39) |
L420Q |
probably damaging |
Het |
| Col6a1 |
A |
T |
10: 76,556,800 (GRCm39) |
Y266N |
probably damaging |
Het |
| Ctps1 |
A |
G |
4: 120,400,919 (GRCm39) |
|
probably null |
Het |
| Enam |
A |
G |
5: 88,651,878 (GRCm39) |
N1129S |
possibly damaging |
Het |
| Erc1 |
T |
C |
6: 119,773,887 (GRCm39) |
E356G |
probably damaging |
Het |
| Fbxl4 |
T |
A |
4: 22,427,166 (GRCm39) |
V469E |
probably benign |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Gm11568 |
A |
G |
11: 99,748,887 (GRCm39) |
T31A |
unknown |
Het |
| Grm2 |
T |
G |
9: 106,525,356 (GRCm39) |
Y453S |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,008,561 (GRCm39) |
|
probably null |
Het |
| Jakmip1 |
A |
G |
5: 37,291,593 (GRCm39) |
I681V |
possibly damaging |
Het |
| Lair1 |
A |
G |
7: 4,031,784 (GRCm39) |
S108P |
probably damaging |
Het |
| Lrp12 |
A |
C |
15: 39,741,377 (GRCm39) |
F446C |
probably damaging |
Het |
| Ncoa6 |
C |
T |
2: 155,275,960 (GRCm39) |
R95Q |
probably damaging |
Het |
| Nup210 |
T |
C |
6: 91,005,793 (GRCm39) |
T614A |
probably benign |
Het |
| Or52p2 |
A |
T |
7: 102,237,166 (GRCm39) |
Y261* |
probably null |
Het |
| Or8b12 |
T |
C |
9: 37,658,131 (GRCm39) |
S234P |
probably damaging |
Het |
| Ppp1r12a |
T |
C |
10: 108,098,212 (GRCm39) |
S311P |
probably damaging |
Het |
| Rsph3a |
C |
A |
17: 8,164,736 (GRCm39) |
P32Q |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,902,752 (GRCm39) |
T1602A |
probably benign |
Het |
| Svil |
C |
G |
18: 5,056,690 (GRCm39) |
P521R |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,652,509 (GRCm39) |
Y1580C |
probably damaging |
Het |
| Vwce |
T |
C |
19: 10,641,463 (GRCm39) |
F730L |
probably benign |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zc2hc1c |
A |
G |
12: 85,343,330 (GRCm39) |
D489G |
probably damaging |
Het |
|
| Other mutations in Or1b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02032:Or1b1
|
APN |
2 |
36,994,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02141:Or1b1
|
APN |
2 |
36,995,437 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02444:Or1b1
|
APN |
2 |
36,994,786 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02453:Or1b1
|
APN |
2 |
36,995,209 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0699:Or1b1
|
UTSW |
2 |
36,995,074 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1387:Or1b1
|
UTSW |
2 |
36,994,880 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4914:Or1b1
|
UTSW |
2 |
36,995,170 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4918:Or1b1
|
UTSW |
2 |
36,995,170 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5009:Or1b1
|
UTSW |
2 |
36,995,467 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5114:Or1b1
|
UTSW |
2 |
36,994,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5301:Or1b1
|
UTSW |
2 |
36,995,210 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7322:Or1b1
|
UTSW |
2 |
36,995,603 (GRCm39) |
missense |
probably null |
0.00 |
|
R7440:Or1b1
|
UTSW |
2 |
36,995,181 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7583:Or1b1
|
UTSW |
2 |
36,995,539 (GRCm39) |
nonsense |
probably null |
|
|
R8892:Or1b1
|
UTSW |
2 |
36,995,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9264:Or1b1
|
UTSW |
2 |
36,994,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Or1b1
|
UTSW |
2 |
36,995,648 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGCCATACAGGAAGCCAACC -3'
(R):5'- TAATGAGCTGTGCCCCGAATGC -3'
Sequencing Primer
(F):5'- GTGAGGAAGTTTAACATTGCCCC -3'
(R):5'- GTGCCCCGAATGCTTCAC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation