Incidental Mutation 'IGL03326:Or5w14'
| ID |
416637 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or5w14
|
| Ensembl Gene |
ENSMUSG00000075150 |
| Gene Name |
olfactory receptor family 5 subfamily W member 14 |
| Synonyms |
Olfr1137, MOR177-20, GA_x6K02T2Q125-49215724-49214792, MOR40-9P |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
IGL03326
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
87541316-87542248 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 87542039 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 70
(D70E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149311
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099850]
[ENSMUST00000214209]
|
| AlphaFold |
Q7TR40 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099850
AA Change: D70E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097437
Gene: ENSMUSG00000075150
AA Change: D70E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
1.3e-45 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
2.8e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214209
AA Change: D70E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
A |
G |
5: 8,177,421 (GRCm39) |
S563P |
probably damaging |
Het |
| Adamtsl1 |
A |
T |
4: 86,170,985 (GRCm39) |
|
probably benign |
Het |
| Ampd2 |
T |
A |
3: 107,986,603 (GRCm39) |
Y227F |
probably benign |
Het |
| Cyp2c67 |
A |
T |
19: 39,631,713 (GRCm39) |
|
probably null |
Het |
| Gk5 |
G |
A |
9: 96,019,892 (GRCm39) |
|
probably null |
Het |
| Gm20422 |
T |
C |
8: 70,219,348 (GRCm39) |
T59A |
possibly damaging |
Het |
| Gria1 |
A |
T |
11: 57,208,599 (GRCm39) |
K831N |
probably damaging |
Het |
| Hspa5 |
C |
A |
2: 34,666,129 (GRCm39) |
|
probably benign |
Het |
| Igtp |
A |
G |
11: 58,097,054 (GRCm39) |
D75G |
probably benign |
Het |
| Jmjd8 |
T |
C |
17: 26,048,139 (GRCm39) |
|
probably null |
Het |
| Kcnh2 |
A |
T |
5: 24,531,411 (GRCm39) |
F158Y |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,730,044 (GRCm39) |
C456* |
probably null |
Het |
| Krtap5-2 |
A |
T |
7: 141,729,100 (GRCm39) |
C193* |
probably null |
Het |
| Mrpl2 |
T |
C |
17: 46,960,853 (GRCm39) |
V249A |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,923,728 (GRCm39) |
I6433N |
probably damaging |
Het |
| Or52a20 |
T |
A |
7: 103,366,069 (GRCm39) |
F89L |
probably benign |
Het |
| Or5p63 |
T |
C |
7: 107,810,837 (GRCm39) |
I300V |
probably benign |
Het |
| Plb1 |
C |
T |
5: 32,488,671 (GRCm39) |
T985I |
probably benign |
Het |
| Polr3b |
T |
C |
10: 84,503,259 (GRCm39) |
I392T |
probably benign |
Het |
| Ppp1r1c |
A |
T |
2: 79,638,727 (GRCm39) |
N107I |
probably benign |
Het |
| Ppp1r3a |
C |
T |
6: 14,719,765 (GRCm39) |
R383Q |
probably damaging |
Het |
| Ptpre |
T |
C |
7: 135,274,546 (GRCm39) |
I499T |
probably damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,999,140 (GRCm39) |
I544T |
probably damaging |
Het |
| Rbm20 |
A |
T |
19: 53,802,431 (GRCm39) |
Q313L |
possibly damaging |
Het |
| Rnf38 |
A |
T |
4: 44,149,182 (GRCm39) |
I55N |
probably benign |
Het |
| Rtel1 |
T |
C |
2: 180,997,354 (GRCm39) |
|
probably benign |
Het |
| Scube1 |
T |
C |
15: 83,491,617 (GRCm39) |
Y959C |
probably damaging |
Het |
| Selenow |
A |
G |
7: 15,654,051 (GRCm39) |
|
probably benign |
Het |
| Tbx5 |
T |
C |
5: 120,009,363 (GRCm39) |
Y291H |
probably damaging |
Het |
| Tln2 |
A |
T |
9: 67,241,539 (GRCm39) |
M1022K |
possibly damaging |
Het |
| Tmtc4 |
G |
A |
14: 123,182,952 (GRCm39) |
R249W |
probably damaging |
Het |
| Trim34a |
A |
G |
7: 103,910,587 (GRCm39) |
Q463R |
probably benign |
Het |
| Vps35 |
C |
A |
8: 86,001,526 (GRCm39) |
E431* |
probably null |
Het |
| Wdpcp |
T |
C |
11: 21,835,048 (GRCm39) |
C684R |
probably benign |
Het |
| Xirp2 |
G |
A |
2: 67,312,590 (GRCm39) |
V20I |
probably benign |
Het |
|
| Other mutations in Or5w14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01093:Or5w14
|
APN |
2 |
87,541,477 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02225:Or5w14
|
APN |
2 |
87,541,743 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02312:Or5w14
|
APN |
2 |
87,541,353 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0432:Or5w14
|
UTSW |
2 |
87,541,774 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1656:Or5w14
|
UTSW |
2 |
87,541,422 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1852:Or5w14
|
UTSW |
2 |
87,541,317 (GRCm39) |
splice site |
probably null |
|
|
R1880:Or5w14
|
UTSW |
2 |
87,541,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2184:Or5w14
|
UTSW |
2 |
87,541,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2511:Or5w14
|
UTSW |
2 |
87,541,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4356:Or5w14
|
UTSW |
2 |
87,542,229 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6184:Or5w14
|
UTSW |
2 |
87,542,188 (GRCm39) |
missense |
probably benign |
|
|
R6278:Or5w14
|
UTSW |
2 |
87,541,815 (GRCm39) |
nonsense |
probably null |
|
|
R6621:Or5w14
|
UTSW |
2 |
87,541,899 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7549:Or5w14
|
UTSW |
2 |
87,542,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7799:Or5w14
|
UTSW |
2 |
87,541,428 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8187:Or5w14
|
UTSW |
2 |
87,541,624 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8236:Or5w14
|
UTSW |
2 |
87,542,104 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8298:Or5w14
|
UTSW |
2 |
87,541,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8314:Or5w14
|
UTSW |
2 |
87,541,546 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8398:Or5w14
|
UTSW |
2 |
87,542,175 (GRCm39) |
missense |
probably benign |
|
|
R9121:Or5w14
|
UTSW |
2 |
87,541,975 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9378:Or5w14
|
UTSW |
2 |
87,541,423 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9553:Or5w14
|
UTSW |
2 |
87,541,992 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9732:Or5w14
|
UTSW |
2 |
87,541,489 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
| Posted On |
2016-08-02 |
Incidental Mutation