Incidental Mutation 'R3959:Or5t5'
| ID |
310826 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5t5
|
| Ensembl Gene |
ENSMUSG00000047969 |
| Gene Name |
olfactory receptor family 5 subfamily T member 5 |
| Synonyms |
MOR179-6, Olfr1093, GA_x6K02T2Q125-48278396-48279364 |
| MMRRC Submission |
040835-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.354)
|
| Stock # |
R3959 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
86612889-86617135 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 86616340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 89
(V89I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151453
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055273]
[ENSMUST00000213354]
[ENSMUST00000219561]
|
| AlphaFold |
Q8VF14 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055273
AA Change: V89I
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000049733
Gene: ENSMUSG00000047969
AA Change: V89I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
43 |
319 |
2.4e-49 |
PFAM |
|
Pfam:7tm_1
|
53 |
302 |
1.3e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213354
AA Change: V89I
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219561
AA Change: V89I
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| Meta Mutation Damage Score |
0.1006 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
100% (37/37) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Adam26a |
T |
C |
8: 44,022,908 (GRCm39) |
H194R |
probably benign |
Het |
| Celf4 |
A |
G |
18: 25,670,811 (GRCm39) |
M124T |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,507,585 (GRCm39) |
I2976K |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,362,329 (GRCm39) |
H3730R |
probably benign |
Het |
| Dock8 |
G |
A |
19: 25,162,305 (GRCm39) |
|
probably null |
Het |
| Eed |
C |
T |
7: 89,604,149 (GRCm39) |
R441Q |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,344,854 (GRCm39) |
T53A |
probably benign |
Het |
| Evc2 |
T |
A |
5: 37,573,120 (GRCm39) |
V944E |
possibly damaging |
Het |
| Hmgcs2 |
T |
C |
3: 98,204,793 (GRCm39) |
F317S |
possibly damaging |
Het |
| Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,874,725 (GRCm39) |
Q225L |
probably benign |
Het |
| Mapk8 |
A |
C |
14: 33,104,210 (GRCm39) |
M402R |
probably null |
Het |
| Mycbp2 |
T |
C |
14: 103,532,688 (GRCm39) |
Y389C |
probably benign |
Het |
| Nceh1 |
T |
C |
3: 27,333,345 (GRCm39) |
I147T |
probably benign |
Het |
| Nfatc3 |
C |
T |
8: 106,825,709 (GRCm39) |
R587* |
probably null |
Het |
| Nin |
A |
T |
12: 70,097,526 (GRCm39) |
F516L |
probably damaging |
Het |
| Npm1 |
T |
A |
11: 33,104,012 (GRCm39) |
N272Y |
probably damaging |
Het |
| Ntrk3 |
T |
C |
7: 77,848,590 (GRCm39) |
E787G |
probably damaging |
Het |
| Ppp1r21 |
A |
G |
17: 88,857,244 (GRCm39) |
E189G |
probably damaging |
Het |
| Prrc2c |
A |
T |
1: 162,536,461 (GRCm39) |
|
probably benign |
Het |
| Rrn3 |
T |
C |
16: 13,599,964 (GRCm39) |
|
probably null |
Het |
| Sec23ip |
C |
G |
7: 128,378,574 (GRCm39) |
T796S |
probably benign |
Het |
| Serpina3f |
T |
A |
12: 104,183,399 (GRCm39) |
I87N |
probably damaging |
Het |
| Slc22a27 |
G |
A |
19: 7,887,414 (GRCm39) |
T188I |
probably damaging |
Het |
| Triobp |
T |
A |
15: 78,886,589 (GRCm39) |
C1930* |
probably null |
Het |
| Ucp3 |
A |
G |
7: 100,131,946 (GRCm39) |
T266A |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn2r2 |
C |
T |
3: 64,047,947 (GRCm39) |
M6I |
probably benign |
Het |
| Vmn2r72 |
A |
T |
7: 85,400,339 (GRCm39) |
L237I |
probably benign |
Het |
| Zfp518a |
A |
C |
19: 40,901,142 (GRCm39) |
Q357P |
probably damaging |
Het |
|
| Other mutations in Or5t5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02147:Or5t5
|
APN |
2 |
86,616,494 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02337:Or5t5
|
APN |
2 |
86,616,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02734:Or5t5
|
APN |
2 |
86,616,712 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0379:Or5t5
|
UTSW |
2 |
86,616,079 (GRCm39) |
missense |
probably benign |
|
|
R0526:Or5t5
|
UTSW |
2 |
86,616,691 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5635:Or5t5
|
UTSW |
2 |
86,616,070 (GRCm39) |
splice site |
probably null |
|
|
R5951:Or5t5
|
UTSW |
2 |
86,616,571 (GRCm39) |
missense |
probably benign |
|
|
R6932:Or5t5
|
UTSW |
2 |
86,616,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7289:Or5t5
|
UTSW |
2 |
86,617,034 (GRCm39) |
missense |
probably benign |
|
|
R7432:Or5t5
|
UTSW |
2 |
86,616,565 (GRCm39) |
nonsense |
probably null |
|
|
R8383:Or5t5
|
UTSW |
2 |
86,616,874 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9235:Or5t5
|
UTSW |
2 |
86,616,548 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9688:Or5t5
|
UTSW |
2 |
86,617,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Or5t5
|
UTSW |
2 |
86,616,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACTGAAGCCACCATGTTTATTC -3'
(R):5'- ATACTCTGGGTGACATGGCC -3'
Sequencing Primer
(F):5'- GGATTCACAGATGACTTTGAACTCC -3'
(R):5'- GGTGACATGGCCACTGTATAC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation