Incidental Mutation 'R1085:Or5b117'
| ID |
85006 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5b117
|
| Ensembl Gene |
ENSMUSG00000095189 |
| Gene Name |
olfactory receptor family 5 subfamily B member 117 |
| Synonyms |
Olfr1472, GA_x6K02T2RE5P-3787124-3786180, MOR202-16 |
| MMRRC Submission |
039171-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R1085 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
13430935-13431879 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 13431594 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 96
(A96T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093915
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077501]
[ENSMUST00000096201]
|
| AlphaFold |
Q7TQQ9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077501
AA Change: A96T
PolyPhen 2
Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000076707
Gene: ENSMUSG00000095189
AA Change: A96T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
2.4e-51 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
33 |
303 |
5.2e-8 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
6.9e-20 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096201
AA Change: A96T
PolyPhen 2
Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000093915
Gene: ENSMUSG00000095189
AA Change: A96T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
306 |
3.9e-53 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
34 |
304 |
2.6e-6 |
PFAM |
|
Pfam:7tm_1
|
40 |
289 |
1.2e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213561
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.6%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agxt2 |
A |
T |
15: 10,388,338 (GRCm39) |
T278S |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,990,489 (GRCm39) |
D3924E |
possibly damaging |
Het |
| Cfap57 |
T |
A |
4: 118,452,976 (GRCm39) |
T576S |
probably benign |
Het |
| Cntnap1 |
G |
A |
11: 101,069,662 (GRCm39) |
R247K |
probably benign |
Het |
| Dipk1c |
A |
G |
18: 84,757,509 (GRCm39) |
I198V |
possibly damaging |
Het |
| Gldc |
C |
A |
19: 30,128,828 (GRCm39) |
C215F |
probably damaging |
Het |
| Grm4 |
T |
A |
17: 27,692,007 (GRCm39) |
Y204F |
probably damaging |
Het |
| Itga11 |
T |
G |
9: 62,585,252 (GRCm39) |
V9G |
probably benign |
Het |
| Mc2r |
A |
G |
18: 68,540,417 (GRCm39) |
F292S |
probably benign |
Het |
| Mcur1 |
A |
G |
13: 43,708,480 (GRCm39) |
S124P |
unknown |
Het |
| Mrtfa |
T |
C |
15: 80,905,084 (GRCm39) |
D116G |
probably damaging |
Het |
| Nin |
G |
T |
12: 70,067,736 (GRCm39) |
Q1964K |
possibly damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or5ae2 |
A |
G |
7: 84,505,987 (GRCm39) |
T137A |
probably benign |
Het |
| Psd2 |
G |
A |
18: 36,145,830 (GRCm39) |
A745T |
probably benign |
Het |
| Rrp36 |
A |
G |
17: 46,978,878 (GRCm39) |
*227Q |
probably null |
Het |
| Sh3tc2 |
A |
C |
18: 62,148,067 (GRCm39) |
D1259A |
probably benign |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tex2 |
G |
A |
11: 106,459,313 (GRCm39) |
S39L |
probably damaging |
Het |
| Tor1a |
A |
G |
2: 30,857,796 (GRCm39) |
I24T |
possibly damaging |
Het |
| Troap |
T |
C |
15: 98,980,044 (GRCm39) |
V408A |
probably damaging |
Het |
| Ttc16 |
A |
T |
2: 32,665,092 (GRCm39) |
S12T |
possibly damaging |
Het |
| Wdr37 |
A |
T |
13: 8,855,964 (GRCm39) |
C460S |
probably damaging |
Het |
|
| Other mutations in Or5b117 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Or5b117
|
APN |
19 |
13,431,204 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL01755:Or5b117
|
APN |
19 |
13,431,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01885:Or5b117
|
APN |
19 |
13,431,449 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02366:Or5b117
|
APN |
19 |
13,431,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03074:Or5b117
|
APN |
19 |
13,431,417 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0592:Or5b117
|
UTSW |
19 |
13,431,069 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4207:Or5b117
|
UTSW |
19 |
13,431,835 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4856:Or5b117
|
UTSW |
19 |
13,431,885 (GRCm39) |
splice site |
probably null |
|
|
R4886:Or5b117
|
UTSW |
19 |
13,431,885 (GRCm39) |
splice site |
probably null |
|
|
R5061:Or5b117
|
UTSW |
19 |
13,431,349 (GRCm39) |
nonsense |
probably null |
|
|
R5167:Or5b117
|
UTSW |
19 |
13,431,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5509:Or5b117
|
UTSW |
19 |
13,431,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5586:Or5b117
|
UTSW |
19 |
13,431,746 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5987:Or5b117
|
UTSW |
19 |
13,431,324 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6631:Or5b117
|
UTSW |
19 |
13,431,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7976:Or5b117
|
UTSW |
19 |
13,431,563 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGTAGCAGCAGGTGACAATCAG -3'
(R):5'- ACAGATGCTCCAGAGCTTCAGATCC -3'
Sequencing Primer
(F):5'- TCAGAATACAGGTGGTACTTGTC -3'
(R):5'- TGATCGCACTGTTTGGAAATC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation