Incidental Mutation 'R5843:Or5ac21'
| ID |
450564 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5ac21
|
| Ensembl Gene |
ENSMUSG00000068182 |
| Gene Name |
olfactory receptor family 5 subfamily AC member 21 |
| Synonyms |
GA_x54KRFPKG5P-55517445-55518365, Olfr203, MOR182-5 |
| MMRRC Submission |
043224-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R5843 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
59123518-59124438 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 59123724 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 69
(D69E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089305]
[ENSMUST00000201687]
[ENSMUST00000215893]
|
| AlphaFold |
L7N205 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089305
AA Change: D70E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000086719
Gene: ENSMUSG00000068182
AA Change: D70E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
1e-46 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
7.6e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201687
AA Change: D69E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144622
Gene: ENSMUSG00000048810
AA Change: D69E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
306 |
3.4e-46 |
PFAM |
|
Pfam:7tm_1
|
40 |
289 |
1.4e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215893
AA Change: D69E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
A |
G |
1: 89,537,272 (GRCm39) |
T93A |
probably damaging |
Het |
| Atp6v1h |
T |
A |
1: 5,232,312 (GRCm39) |
|
probably null |
Het |
| Ccnk |
T |
C |
12: 108,159,989 (GRCm39) |
V157A |
probably damaging |
Het |
| Cdh10 |
T |
C |
15: 18,985,286 (GRCm39) |
F317L |
possibly damaging |
Het |
| Chn1 |
A |
G |
2: 73,510,092 (GRCm39) |
I139T |
probably benign |
Het |
| Creld2 |
A |
T |
15: 88,710,632 (GRCm39) |
D349V |
probably damaging |
Het |
| Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Frem1 |
T |
C |
4: 82,854,289 (GRCm39) |
D1660G |
probably damaging |
Het |
| Hipk3 |
A |
C |
2: 104,270,569 (GRCm39) |
S470R |
possibly damaging |
Het |
| Hook2 |
T |
A |
8: 85,717,912 (GRCm39) |
I37K |
probably damaging |
Het |
| Hpcal1 |
T |
C |
12: 17,841,200 (GRCm39) |
F193L |
probably benign |
Het |
| Hps4 |
T |
C |
5: 112,497,296 (GRCm39) |
|
probably null |
Het |
| Iqgap1 |
T |
C |
7: 80,375,828 (GRCm39) |
N1349S |
probably benign |
Het |
| Khk |
A |
G |
5: 31,079,275 (GRCm39) |
I6V |
possibly damaging |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Lrch3 |
T |
C |
16: 32,818,896 (GRCm39) |
V629A |
probably damaging |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Muc13 |
A |
G |
16: 33,626,421 (GRCm39) |
Y320C |
probably damaging |
Het |
| Or2aj4 |
T |
A |
16: 19,385,333 (GRCm39) |
Q100L |
probably damaging |
Het |
| Or2y1b |
A |
T |
11: 49,209,076 (GRCm39) |
R234S |
probably benign |
Het |
| Parpbp |
A |
G |
10: 87,969,053 (GRCm39) |
L131P |
probably damaging |
Het |
| Prl3a1 |
T |
C |
13: 27,454,093 (GRCm39) |
W24R |
probably damaging |
Het |
| Ptprk |
T |
A |
10: 28,369,060 (GRCm39) |
N677K |
probably damaging |
Het |
| Rbm39 |
A |
T |
2: 156,004,793 (GRCm39) |
D181E |
possibly damaging |
Het |
| Ros1 |
T |
C |
10: 52,042,293 (GRCm39) |
T220A |
possibly damaging |
Het |
| Slc46a3 |
T |
C |
5: 147,823,021 (GRCm39) |
I274V |
probably benign |
Het |
| Tas2r104 |
T |
A |
6: 131,661,938 (GRCm39) |
N257I |
probably damaging |
Het |
| Timeless |
A |
G |
10: 128,080,113 (GRCm39) |
|
probably null |
Het |
| Tmem63a |
T |
C |
1: 180,800,398 (GRCm39) |
|
probably null |
Het |
| Traf5 |
T |
C |
1: 191,729,446 (GRCm39) |
D535G |
possibly damaging |
Het |
| Trank1 |
C |
T |
9: 111,194,928 (GRCm39) |
S984L |
possibly damaging |
Het |
| Trpm6 |
A |
G |
19: 18,833,539 (GRCm39) |
T1573A |
probably benign |
Het |
| Ube3b |
T |
A |
5: 114,550,360 (GRCm39) |
I835N |
probably damaging |
Het |
| Wnt16 |
T |
A |
6: 22,290,947 (GRCm39) |
I125N |
probably damaging |
Het |
| Xirp2 |
G |
T |
2: 67,307,129 (GRCm39) |
|
probably benign |
Het |
| Zbtb47 |
T |
C |
9: 121,596,405 (GRCm39) |
F624S |
possibly damaging |
Het |
| Zc3h12c |
G |
T |
9: 52,027,982 (GRCm39) |
T460K |
probably benign |
Het |
| Zfp865 |
C |
A |
7: 5,033,416 (GRCm39) |
T467K |
probably benign |
Het |
| Zim1 |
A |
G |
7: 6,680,697 (GRCm39) |
V322A |
possibly damaging |
Het |
|
| Other mutations in Or5ac21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02003:Or5ac21
|
APN |
16 |
59,123,996 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02294:Or5ac21
|
APN |
16 |
59,123,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02412:Or5ac21
|
APN |
16 |
59,123,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02899:Or5ac21
|
APN |
16 |
59,123,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0792:Or5ac21
|
UTSW |
16 |
59,124,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1551:Or5ac21
|
UTSW |
16 |
59,123,766 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1701:Or5ac21
|
UTSW |
16 |
59,123,651 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1975:Or5ac21
|
UTSW |
16 |
59,124,091 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2272:Or5ac21
|
UTSW |
16 |
59,123,807 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5199:Or5ac21
|
UTSW |
16 |
59,124,103 (GRCm39) |
missense |
probably benign |
|
|
R5928:Or5ac21
|
UTSW |
16 |
59,123,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6708:Or5ac21
|
UTSW |
16 |
59,124,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6747:Or5ac21
|
UTSW |
16 |
59,124,004 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6894:Or5ac21
|
UTSW |
16 |
59,124,142 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7324:Or5ac21
|
UTSW |
16 |
59,123,611 (GRCm39) |
missense |
probably benign |
|
|
R7380:Or5ac21
|
UTSW |
16 |
59,124,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7612:Or5ac21
|
UTSW |
16 |
59,123,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7775:Or5ac21
|
UTSW |
16 |
59,123,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8010:Or5ac21
|
UTSW |
16 |
59,123,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8408:Or5ac21
|
UTSW |
16 |
59,124,418 (GRCm39) |
nonsense |
probably null |
|
|
R8424:Or5ac21
|
UTSW |
16 |
59,123,772 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8746:Or5ac21
|
UTSW |
16 |
59,123,973 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1176:Or5ac21
|
UTSW |
16 |
59,123,532 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCTGGTGACTGCGTTTATTC -3'
(R):5'- ACACTCTGTTGGACATCACC -3'
Sequencing Primer
(F):5'- TCTCAGAGGAATAACAGATCTTCCAG -3'
(R):5'- TCTGTTGGACATCACCACAAGATAG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation