Incidental Mutation 'R2383:Or2f1b'
| ID |
247603 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2f1b
|
| Ensembl Gene |
ENSMUSG00000095236 |
| Gene Name |
olfactory receptor family 2 subfamily F member 1B |
| Synonyms |
18A, GA_x6K02T2P3E9-4797841-4796888, Olfr38, MOR257-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R2383 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
42738988-42739941 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 42739393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 136
(M136L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149726
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074499]
[ENSMUST00000215796]
|
| AlphaFold |
Q8VGP4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074499
AA Change: M136L
PolyPhen 2
Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000093654
Gene: ENSMUSG00000095236
AA Change: M136L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
1.8e-52 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
5.4e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215796
AA Change: M136L
PolyPhen 2
Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
| 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 |
|---|
| Adam33 |
T |
C |
2: 130,893,282 (GRCm39) |
T748A |
probably benign |
Het |
| Afg3l2 |
A |
G |
18: 67,556,026 (GRCm39) |
V435A |
possibly damaging |
Het |
| Ccdc170 |
G |
A |
10: 4,484,208 (GRCm39) |
E345K |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,153,168 (GRCm39) |
I227V |
possibly damaging |
Het |
| Cndp2 |
C |
A |
18: 84,693,215 (GRCm39) |
D182Y |
possibly damaging |
Het |
| Col14a1 |
A |
T |
15: 55,310,913 (GRCm39) |
|
probably benign |
Het |
| Cyp2e1 |
C |
T |
7: 140,349,981 (GRCm39) |
S222L |
probably benign |
Het |
| Evx2 |
T |
C |
2: 74,488,393 (GRCm39) |
|
probably null |
Het |
| Kics2 |
A |
G |
10: 121,586,554 (GRCm39) |
T290A |
possibly damaging |
Het |
| L1td1 |
A |
G |
4: 98,625,959 (GRCm39) |
E718G |
possibly damaging |
Het |
| Lgr4 |
T |
C |
2: 109,830,960 (GRCm39) |
S296P |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,869,593 (GRCm39) |
M709V |
probably benign |
Het |
| Mtbp |
G |
A |
15: 55,429,590 (GRCm39) |
G162D |
probably damaging |
Het |
| Nap1l1 |
T |
G |
10: 111,329,272 (GRCm39) |
D295E |
probably damaging |
Het |
| Plrg1 |
C |
T |
3: 82,973,255 (GRCm39) |
P178S |
probably damaging |
Het |
| Serpina1b |
T |
A |
12: 103,694,539 (GRCm39) |
I402F |
probably benign |
Het |
| Sla |
T |
A |
15: 66,654,525 (GRCm39) |
I254F |
probably damaging |
Het |
| Slc25a29 |
A |
G |
12: 108,792,934 (GRCm39) |
S215P |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,666,854 (GRCm39) |
S459P |
probably benign |
Het |
| Tiam1 |
A |
G |
16: 89,595,572 (GRCm39) |
V1303A |
probably benign |
Het |
| Trim45 |
A |
T |
3: 100,832,543 (GRCm39) |
I259F |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,536,856 (GRCm39) |
S34990G |
probably benign |
Het |
| Zbtb48 |
A |
G |
4: 152,111,407 (GRCm39) |
V36A |
probably damaging |
Het |
|
| Other mutations in Or2f1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01551:Or2f1b
|
APN |
6 |
42,739,046 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01567:Or2f1b
|
APN |
6 |
42,739,661 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02097:Or2f1b
|
APN |
6 |
42,739,394 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02186:Or2f1b
|
APN |
6 |
42,739,880 (GRCm39) |
missense |
probably null |
0.96 |
|
IGL02473:Or2f1b
|
APN |
6 |
42,739,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0541:Or2f1b
|
UTSW |
6 |
42,739,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1210:Or2f1b
|
UTSW |
6 |
42,739,601 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1368:Or2f1b
|
UTSW |
6 |
42,739,613 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4614:Or2f1b
|
UTSW |
6 |
42,739,352 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4616:Or2f1b
|
UTSW |
6 |
42,739,352 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4844:Or2f1b
|
UTSW |
6 |
42,739,394 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5121:Or2f1b
|
UTSW |
6 |
42,739,931 (GRCm39) |
nonsense |
probably null |
|
|
R5951:Or2f1b
|
UTSW |
6 |
42,739,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6061:Or2f1b
|
UTSW |
6 |
42,739,899 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6336:Or2f1b
|
UTSW |
6 |
42,739,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7414:Or2f1b
|
UTSW |
6 |
42,739,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8344:Or2f1b
|
UTSW |
6 |
42,739,499 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9603:Or2f1b
|
UTSW |
6 |
42,739,672 (GRCm39) |
nonsense |
probably null |
|
|
X0018:Or2f1b
|
UTSW |
6 |
42,739,869 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Or2f1b
|
UTSW |
6 |
42,739,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTGGTGGATGCATCTTATG -3'
(R):5'- GACAATGCTAGAAACCATGATTGC -3'
Sequencing Primer
(F):5'- AAGCATAGTCCCCCAGCTG -3'
(R):5'- GCAATCTTGTTAGATGAGGTATCCAC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation