Incidental Mutation 'R4254:Or5d14'
| ID |
321729 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5d14
|
| Ensembl Gene |
ENSMUSG00000075139 |
| Gene Name |
olfactory receptor family 5 subfamily D member 14 |
| Synonyms |
MOR174-14, Olfr1162, GA_x6K02T2Q125-49542541-49541597 |
| MMRRC Submission |
041067-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R4254 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
87880022-87880966 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 87880123 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 282
(V282I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139068
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099837]
[ENSMUST00000183862]
|
| AlphaFold |
Q7TR28 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099837
AA Change: V282I
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000097425
Gene: ENSMUSG00000075139
AA Change: V282I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
310 |
2.9e-46 |
PFAM |
|
Pfam:7tm_1
|
43 |
292 |
1.5e-14 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183862
AA Change: V282I
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000139068
Gene: ENSMUSG00000075139
AA Change: V282I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
43 |
292 |
4.2e-27 |
PFAM |
|
Pfam:7tm_4
|
141 |
285 |
3.1e-37 |
PFAM |
|
| Meta Mutation Damage Score |
0.1585 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (40/41) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg1 |
T |
G |
8: 95,732,530 (GRCm39) |
|
probably null |
Het |
| Adgrg2 |
T |
G |
X: 159,265,404 (GRCm39) |
S551R |
possibly damaging |
Het |
| Anapc2 |
T |
C |
2: 25,163,357 (GRCm39) |
V198A |
probably benign |
Het |
| Asxl3 |
T |
C |
18: 22,657,423 (GRCm39) |
I1811T |
possibly damaging |
Het |
| Atp5mc3 |
A |
C |
2: 73,740,319 (GRCm39) |
|
probably benign |
Het |
| Ccdc27 |
A |
C |
4: 154,123,976 (GRCm39) |
S186A |
unknown |
Het |
| Ccdc28a |
A |
G |
10: 18,100,683 (GRCm39) |
L48P |
probably damaging |
Het |
| Cdh19 |
C |
T |
1: 110,852,760 (GRCm39) |
A392T |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,942,517 (GRCm39) |
D1679G |
probably benign |
Het |
| Copa |
C |
T |
1: 171,929,811 (GRCm39) |
R293C |
probably damaging |
Het |
| Depdc1a |
A |
G |
3: 159,204,124 (GRCm39) |
R58G |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,438,248 (GRCm39) |
S3960T |
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,604,595 (GRCm39) |
T1021S |
probably benign |
Het |
| Hrh1 |
T |
A |
6: 114,456,962 (GRCm39) |
M81K |
probably damaging |
Het |
| Ipo11 |
G |
A |
13: 107,029,017 (GRCm39) |
T312I |
probably benign |
Het |
| Itgb2l |
T |
C |
16: 96,231,777 (GRCm39) |
N330D |
probably benign |
Het |
| Itsn1 |
G |
A |
16: 91,615,440 (GRCm39) |
|
probably benign |
Het |
| Kcnb1 |
A |
G |
2: 166,947,651 (GRCm39) |
I399T |
probably damaging |
Het |
| Muc13 |
G |
A |
16: 33,636,221 (GRCm39) |
M568I |
probably benign |
Het |
| Nlrp1a |
A |
C |
11: 71,013,854 (GRCm39) |
Y465* |
probably null |
Het |
| Nwd2 |
G |
A |
5: 63,963,889 (GRCm39) |
V1158I |
possibly damaging |
Het |
| Or2h1b |
A |
G |
17: 37,462,530 (GRCm39) |
I111T |
possibly damaging |
Het |
| Or8b101 |
T |
A |
9: 38,020,546 (GRCm39) |
L183H |
probably damaging |
Het |
| Ptprr |
T |
A |
10: 115,998,348 (GRCm39) |
|
probably null |
Het |
| Rasd2 |
G |
A |
8: 75,948,538 (GRCm39) |
E155K |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Serinc3 |
T |
A |
2: 163,478,888 (GRCm39) |
M80L |
probably benign |
Het |
| Sf1 |
T |
C |
19: 6,421,677 (GRCm39) |
V140A |
probably damaging |
Het |
| Slc15a2 |
A |
T |
16: 36,574,852 (GRCm39) |
V519E |
probably benign |
Het |
| Slc16a10 |
A |
G |
10: 39,952,997 (GRCm39) |
Y166H |
probably damaging |
Het |
| Slc38a1 |
T |
C |
15: 96,483,431 (GRCm39) |
D299G |
probably benign |
Het |
| Smim29 |
A |
T |
17: 27,784,696 (GRCm39) |
|
probably null |
Het |
| Tmbim1 |
C |
A |
1: 74,333,090 (GRCm39) |
V92F |
probably damaging |
Het |
| Vsig4 |
C |
A |
X: 95,334,107 (GRCm39) |
R134L |
probably benign |
Het |
|
| Other mutations in Or5d14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01669:Or5d14
|
APN |
2 |
87,880,128 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL01965:Or5d14
|
APN |
2 |
87,880,780 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02183:Or5d14
|
APN |
2 |
87,880,333 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0281:Or5d14
|
UTSW |
2 |
87,880,756 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0501:Or5d14
|
UTSW |
2 |
87,880,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4589:Or5d14
|
UTSW |
2 |
87,880,823 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4824:Or5d14
|
UTSW |
2 |
87,880,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5148:Or5d14
|
UTSW |
2 |
87,880,737 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5580:Or5d14
|
UTSW |
2 |
87,880,668 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6174:Or5d14
|
UTSW |
2 |
87,880,646 (GRCm39) |
nonsense |
probably null |
|
|
R6888:Or5d14
|
UTSW |
2 |
87,880,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7935:Or5d14
|
UTSW |
2 |
87,880,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7951:Or5d14
|
UTSW |
2 |
87,880,601 (GRCm39) |
nonsense |
probably null |
|
|
R9123:Or5d14
|
UTSW |
2 |
87,880,294 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9125:Or5d14
|
UTSW |
2 |
87,880,294 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9133:Or5d14
|
UTSW |
2 |
87,880,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9280:Or5d14
|
UTSW |
2 |
87,880,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9374:Or5d14
|
UTSW |
2 |
87,880,509 (GRCm39) |
nonsense |
probably null |
|
|
R9552:Or5d14
|
UTSW |
2 |
87,880,509 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Or5d14
|
UTSW |
2 |
87,880,648 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCTGAGTCGAGTTTATTTATCTG -3'
(R):5'- GAGTACACTCTTGATCATTCTCACATC -3'
Sequencing Primer
(F):5'- AGTCGAGTTTATTTATCTGTGCATC -3'
(R):5'- CATCTTATGTGTTCATTTTCGTGACG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation