Incidental Mutation 'R3925:Or5t17'
| ID |
308232 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5t17
|
| Ensembl Gene |
ENSMUSG00000049843 |
| Gene Name |
olfactory receptor family 5 subfamily T member 17 |
| Synonyms |
MOR179-4, GA_x6K02T2Q125-48487992-48488966, Olfr1102 |
| MMRRC Submission |
040916-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R3925 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
86832276-86833338 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86832718 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 135
(Y135C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149634
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055129]
[ENSMUST00000214002]
|
| AlphaFold |
Q8VES2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055129
AA Change: Y135C
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000052861
Gene: ENSMUSG00000049843
AA Change: Y135C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
|
Pfam:7tm_4
|
43 |
320 |
8.1e-52 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
47 |
322 |
8.7e-6 |
PFAM |
|
Pfam:7tm_1
|
53 |
302 |
3.6e-19 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214002
AA Change: Y135C
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.2053 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
97% (30/31) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
G |
A |
13: 81,726,891 (GRCm39) |
T487I |
possibly damaging |
Het |
| Amn |
T |
C |
12: 111,242,114 (GRCm39) |
V367A |
possibly damaging |
Het |
| Becn2 |
T |
C |
1: 175,748,852 (GRCm39) |
V306A |
probably benign |
Het |
| C230029F24Rik |
AGAAAG |
A |
1: 49,350,088 (GRCm39) |
|
noncoding transcript |
Het |
| Cdkl1 |
G |
T |
12: 69,803,373 (GRCm39) |
R168S |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,785,555 (GRCm39) |
K445R |
probably benign |
Het |
| Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
| Eif4e |
G |
A |
3: 138,261,198 (GRCm39) |
G164D |
probably damaging |
Het |
| Eno1 |
T |
C |
4: 150,324,025 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
G |
A |
2: 31,343,169 (GRCm39) |
R4565Q |
probably benign |
Het |
| Itgal |
A |
T |
7: 126,923,709 (GRCm39) |
|
probably benign |
Het |
| Klhl1 |
A |
T |
14: 96,584,316 (GRCm39) |
C305S |
possibly damaging |
Het |
| Ms4a2 |
A |
G |
19: 11,596,312 (GRCm39) |
M139T |
probably benign |
Het |
| Nr2e3 |
C |
T |
9: 59,855,716 (GRCm39) |
R213H |
probably damaging |
Het |
| Onecut2 |
A |
G |
18: 64,474,591 (GRCm39) |
K381E |
probably damaging |
Het |
| Or2t43 |
T |
A |
11: 58,457,652 (GRCm39) |
H173L |
probably benign |
Het |
| Or52n1 |
T |
A |
7: 104,383,396 (GRCm39) |
E58D |
probably benign |
Het |
| Pabpc1l |
T |
A |
2: 163,869,596 (GRCm39) |
|
probably benign |
Het |
| Prim2 |
A |
G |
1: 33,572,380 (GRCm39) |
L253P |
probably damaging |
Het |
| Pycr1 |
T |
C |
11: 120,532,961 (GRCm39) |
T100A |
probably benign |
Het |
| Qrfpr |
T |
C |
3: 36,276,072 (GRCm39) |
N106S |
possibly damaging |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Selenoi |
T |
A |
5: 30,461,086 (GRCm39) |
D107E |
probably damaging |
Het |
| Synrg |
C |
T |
11: 83,931,725 (GRCm39) |
P1321S |
probably benign |
Het |
| Trgv7 |
A |
G |
13: 19,362,644 (GRCm39) |
Y111C |
probably damaging |
Het |
| Trp53rkb |
A |
G |
2: 166,637,392 (GRCm39) |
Y116C |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,293,640 (GRCm39) |
F245I |
probably benign |
Het |
| Utrn |
C |
T |
10: 12,573,786 (GRCm39) |
V1095I |
probably benign |
Het |
| Xpnpep1 |
T |
C |
19: 52,980,128 (GRCm39) |
H632R |
probably damaging |
Het |
| Zfp735 |
T |
C |
11: 73,601,950 (GRCm39) |
I298T |
probably benign |
Het |
| Zfp953 |
T |
A |
13: 67,496,002 (GRCm39) |
Y13F |
probably damaging |
Het |
|
| Other mutations in Or5t17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01371:Or5t17
|
APN |
2 |
86,833,267 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL01584:Or5t17
|
APN |
2 |
86,832,495 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01913:Or5t17
|
APN |
2 |
86,833,164 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02672:Or5t17
|
APN |
2 |
86,832,417 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0003:Or5t17
|
UTSW |
2 |
86,832,710 (GRCm39) |
nonsense |
probably null |
|
|
R0003:Or5t17
|
UTSW |
2 |
86,832,710 (GRCm39) |
nonsense |
probably null |
|
|
R1674:Or5t17
|
UTSW |
2 |
86,832,577 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1688:Or5t17
|
UTSW |
2 |
86,832,730 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3826:Or5t17
|
UTSW |
2 |
86,832,388 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4023:Or5t17
|
UTSW |
2 |
86,833,266 (GRCm39) |
nonsense |
probably null |
|
|
R4730:Or5t17
|
UTSW |
2 |
86,832,510 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5154:Or5t17
|
UTSW |
2 |
86,832,382 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5525:Or5t17
|
UTSW |
2 |
86,832,683 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5685:Or5t17
|
UTSW |
2 |
86,832,621 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5788:Or5t17
|
UTSW |
2 |
86,832,645 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6280:Or5t17
|
UTSW |
2 |
86,832,364 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7178:Or5t17
|
UTSW |
2 |
86,832,879 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9493:Or5t17
|
UTSW |
2 |
86,833,140 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9745:Or5t17
|
UTSW |
2 |
86,832,487 (GRCm39) |
missense |
probably benign |
0.28 |
|
Z1176:Or5t17
|
UTSW |
2 |
86,832,955 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Or5t17
|
UTSW |
2 |
86,832,954 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCATCCTTGGATGCCTGC -3'
(R):5'- AGCCTGCACAGTAGAAGAGC -3'
Sequencing Primer
(F):5'- GGATGCCTGCTTTTCTTCAG -3'
(R):5'- TTGATTTAAGTGGGTGTCAGAACAAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation