Incidental Mutation 'IGL01870:Or5v1b'
| ID |
178667 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or5v1b
|
| Ensembl Gene |
ENSMUSG00000090675 |
| Gene Name |
olfactory receptor family 5 subfamily V member 1B |
| Synonyms |
MOR249-1P, GA_x6K02T2PSCP-1989071-1990024, Olfr111 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.499)
|
| Stock # |
IGL01870
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
37818921-37843340 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 37841555 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 229
(R229H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097325]
[ENSMUST00000214259]
[ENSMUST00000215424]
|
| AlphaFold |
Q7TRK1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097325
AA Change: R229H
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000094933
Gene: ENSMUSG00000090675
AA Change: R229H
| 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 |
probably benign
Transcript: ENSMUST00000214259
AA Change: R229H
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215424
AA Change: R229H
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1a |
A |
G |
13: 30,565,310 (GRCm39) |
D125G |
probably damaging |
Het |
| Arhgap31 |
T |
C |
16: 38,438,604 (GRCm39) |
K300E |
probably damaging |
Het |
| Cma2 |
C |
A |
14: 56,211,194 (GRCm39) |
S162Y |
probably benign |
Het |
| Cntn4 |
A |
G |
6: 106,466,676 (GRCm39) |
T193A |
possibly damaging |
Het |
| Col22a1 |
T |
A |
15: 71,824,377 (GRCm39) |
M556L |
probably benign |
Het |
| Dld |
A |
G |
12: 31,385,466 (GRCm39) |
S292P |
possibly damaging |
Het |
| Dnah6 |
A |
T |
6: 73,009,552 (GRCm39) |
D3746E |
probably benign |
Het |
| Eea1 |
A |
G |
10: 95,809,848 (GRCm39) |
T9A |
probably damaging |
Het |
| Eeig1 |
T |
C |
2: 32,456,294 (GRCm39) |
S319P |
probably benign |
Het |
| Gbf1 |
A |
G |
19: 46,274,108 (GRCm39) |
K1714R |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| H2-M1 |
A |
T |
17: 36,980,955 (GRCm39) |
M327K |
probably benign |
Het |
| Ifnz |
T |
A |
4: 88,701,548 (GRCm39) |
S176T |
possibly damaging |
Het |
| Irak4 |
T |
C |
15: 94,445,751 (GRCm39) |
Y10H |
probably benign |
Het |
| Irx5 |
T |
C |
8: 93,086,405 (GRCm39) |
F163L |
probably damaging |
Het |
| Jak3 |
C |
T |
8: 72,133,434 (GRCm39) |
P376S |
probably damaging |
Het |
| Lrrc25 |
T |
C |
8: 71,070,437 (GRCm39) |
S73P |
possibly damaging |
Het |
| Macf1 |
C |
T |
4: 123,367,906 (GRCm39) |
G2285D |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,574,624 (GRCm39) |
T1025S |
probably benign |
Het |
| Mylk2 |
A |
G |
2: 152,757,134 (GRCm39) |
N303S |
probably benign |
Het |
| Pcnx1 |
T |
C |
12: 82,022,667 (GRCm39) |
V1512A |
probably benign |
Het |
| Phlda3 |
A |
G |
1: 135,694,376 (GRCm39) |
S64G |
probably benign |
Het |
| Pptc7 |
C |
A |
5: 122,451,665 (GRCm39) |
S40R |
probably damaging |
Het |
| Pramel19 |
T |
A |
4: 101,797,887 (GRCm39) |
L95H |
probably benign |
Het |
| Ptpn4 |
A |
C |
1: 119,603,277 (GRCm39) |
|
probably null |
Het |
| Slc10a1 |
T |
C |
12: 81,007,302 (GRCm39) |
M160V |
probably benign |
Het |
| Stac |
T |
C |
9: 111,401,400 (GRCm39) |
I349V |
probably benign |
Het |
| Synm |
A |
G |
7: 67,385,866 (GRCm39) |
S157P |
possibly damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,052,915 (GRCm39) |
L924P |
probably damaging |
Het |
| Tcaf2 |
C |
T |
6: 42,601,411 (GRCm39) |
V883I |
possibly damaging |
Het |
| Upp1 |
T |
C |
11: 9,075,700 (GRCm39) |
|
probably null |
Het |
| Whamm |
C |
T |
7: 81,245,722 (GRCm39) |
T726I |
probably damaging |
Het |
|
| Other mutations in Or5v1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R4167:Or5v1b
|
UTSW |
17 |
37,840,897 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation