Incidental Mutation 'R4167:Or5v1b'
| ID |
320637 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5v1b
|
| Ensembl Gene |
ENSMUSG00000090675 |
| Gene Name |
olfactory receptor family 5 subfamily V member 1B |
| Synonyms |
MOR249-1P, GA_x6K02T2PSCP-1989071-1990024, Olfr111 |
| MMRRC Submission |
041008-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.499)
|
| Stock # |
R4167 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
37818921-37843340 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37840897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 10
(S10P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097325]
[ENSMUST00000214259]
[ENSMUST00000215424]
|
| AlphaFold |
Q7TRK1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097325
AA Change: S10P
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000094933
Gene: ENSMUSG00000090675
AA Change: S10P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
5.4e-54 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
302 |
1.5e-5 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.4e-28 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214259
AA Change: S10P
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215424
AA Change: S10P
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
94% (31/33) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Casp6 |
A |
G |
3: 129,706,993 (GRCm39) |
H201R |
probably damaging |
Het |
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Cdh16 |
A |
G |
8: 105,344,362 (GRCm39) |
L59P |
probably benign |
Het |
| Dcp2 |
T |
A |
18: 44,529,034 (GRCm39) |
Y50N |
probably damaging |
Het |
| Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
| Fam78b |
T |
C |
1: 166,829,301 (GRCm39) |
V51A |
possibly damaging |
Het |
| Gabrb2 |
A |
T |
11: 42,312,155 (GRCm39) |
|
probably benign |
Het |
| Glyctk |
G |
T |
9: 106,034,961 (GRCm39) |
A35E |
probably benign |
Het |
| Kat14 |
A |
G |
2: 144,236,030 (GRCm39) |
E254G |
probably damaging |
Het |
| Kcng1 |
T |
A |
2: 168,104,617 (GRCm39) |
S410C |
probably damaging |
Het |
| Krt74 |
A |
G |
15: 101,667,304 (GRCm39) |
|
noncoding transcript |
Het |
| Lrp12 |
T |
C |
15: 39,748,409 (GRCm39) |
T70A |
probably damaging |
Het |
| Man2c1 |
A |
G |
9: 57,045,310 (GRCm39) |
D473G |
probably benign |
Het |
| Mindy4 |
G |
A |
6: 55,201,331 (GRCm39) |
G339S |
possibly damaging |
Het |
| Naip1 |
C |
T |
13: 100,580,794 (GRCm39) |
G151D |
probably benign |
Het |
| Ndufaf7 |
G |
A |
17: 79,252,415 (GRCm39) |
V275I |
probably benign |
Het |
| Nppb |
T |
A |
4: 148,071,431 (GRCm39) |
L121* |
probably null |
Het |
| Oog2 |
A |
T |
4: 143,922,782 (GRCm39) |
Q349L |
probably benign |
Het |
| Or5d39 |
T |
C |
2: 87,980,189 (GRCm39) |
H58R |
probably damaging |
Het |
| Pcdhgb8 |
T |
G |
18: 37,895,596 (GRCm39) |
V222G |
possibly damaging |
Het |
| Plcd3 |
A |
T |
11: 102,969,290 (GRCm39) |
C226S |
probably damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,570,196 (GRCm39) |
E125G |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,332,069 (GRCm39) |
E2426G |
probably damaging |
Het |
| Rraga |
T |
C |
4: 86,494,304 (GRCm39) |
V50A |
possibly damaging |
Het |
| Scmh1 |
T |
C |
4: 120,386,473 (GRCm39) |
|
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 95,110,952 (GRCm39) |
Y590C |
probably damaging |
Het |
| Snx20 |
C |
T |
8: 89,354,013 (GRCm39) |
R239Q |
probably benign |
Het |
| Vmn2r59 |
A |
G |
7: 41,670,732 (GRCm39) |
|
probably benign |
Het |
| Zfp128 |
A |
G |
7: 12,624,289 (GRCm39) |
D219G |
probably benign |
Het |
|
| Other mutations in Or5v1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01870:Or5v1b
|
APN |
17 |
37,841,555 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02472:Or5v1b
|
APN |
17 |
37,841,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02511:Or5v1b
|
APN |
17 |
37,840,870 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
BB009:Or5v1b
|
UTSW |
17 |
37,841,075 (GRCm39) |
missense |
probably benign |
0.31 |
|
BB019:Or5v1b
|
UTSW |
17 |
37,841,075 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0335:Or5v1b
|
UTSW |
17 |
37,841,533 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2006:Or5v1b
|
UTSW |
17 |
37,841,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3757:Or5v1b
|
UTSW |
17 |
37,841,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4904:Or5v1b
|
UTSW |
17 |
37,841,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4952:Or5v1b
|
UTSW |
17 |
37,841,641 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7366:Or5v1b
|
UTSW |
17 |
37,841,708 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7389:Or5v1b
|
UTSW |
17 |
37,841,548 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7510:Or5v1b
|
UTSW |
17 |
37,841,480 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7932:Or5v1b
|
UTSW |
17 |
37,841,075 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8080:Or5v1b
|
UTSW |
17 |
37,841,555 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8326:Or5v1b
|
UTSW |
17 |
37,841,470 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8828:Or5v1b
|
UTSW |
17 |
37,841,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9275:Or5v1b
|
UTSW |
17 |
37,841,819 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9779:Or5v1b
|
UTSW |
17 |
37,841,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCAAAGAACTGCTTCATTCG -3'
(R):5'- TGACAGAAGATGCACCATCATC -3'
Sequencing Primer
(F):5'- CAAAGAACTGCTTCATTCGTGGTTC -3'
(R):5'- CCATCATCTGGGGGACATTAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation