Incidental Mutation 'R2334:Or2ak5'
| ID |
246530 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2ak5
|
| Ensembl Gene |
ENSMUSG00000108265 |
| Gene Name |
olfactory receptor family 2 subfamily AK member 5 |
| Synonyms |
Olfr318, MOR285-1, GA_x6K02T2NKPP-692816-693736 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R2334 (G1)
|
| Quality Score |
112 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
58610895-58611920 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 58611288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 195
(Y195*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149053
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000189911]
[ENSMUST00000214728]
|
| AlphaFold |
Q5NCD7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000074309
AA Change: Y195*
|
| SMART Domains |
Protein: ENSMUSP00000073919
Gene: ENSMUSG00000058222
AA Change: Y195*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
304 |
5.2e-47 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
6.6e-24 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189911
AA Change: Y195*
|
| SMART Domains |
Protein: ENSMUSP00000139574
Gene: ENSMUSG00000108265
AA Change: Y195*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
35 |
220 |
6.2e-7 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
7.3e-30 |
PFAM |
|
Pfam:7tm_4
|
139 |
283 |
3.2e-38 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213944
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000214728
AA Change: Y195*
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
A |
G |
4: 144,255,429 (GRCm39) |
K283R |
probably damaging |
Het |
| Ceacam20 |
T |
C |
7: 19,705,516 (GRCm39) |
F169S |
probably damaging |
Het |
| Clint1 |
A |
G |
11: 45,799,855 (GRCm39) |
Q556R |
probably damaging |
Het |
| Cpa5 |
G |
A |
6: 30,624,605 (GRCm39) |
W148* |
probably null |
Het |
| Cryz |
C |
T |
3: 154,327,828 (GRCm39) |
A310V |
probably benign |
Het |
| Dlk1 |
T |
C |
12: 109,419,614 (GRCm39) |
V10A |
probably damaging |
Het |
| Fbxw16 |
T |
G |
9: 109,267,429 (GRCm39) |
L267F |
probably benign |
Het |
| Frmpd1 |
T |
C |
4: 45,285,408 (GRCm39) |
S1410P |
probably damaging |
Het |
| Itgb4 |
A |
T |
11: 115,884,261 (GRCm39) |
I982F |
probably damaging |
Het |
| Lrrfip2 |
G |
A |
9: 111,048,793 (GRCm39) |
C250Y |
probably benign |
Het |
| Mia3 |
A |
G |
1: 183,115,256 (GRCm39) |
|
probably null |
Het |
| Mlh3 |
T |
A |
12: 85,314,851 (GRCm39) |
D445V |
probably benign |
Het |
| Ndst4 |
T |
A |
3: 125,501,825 (GRCm39) |
N129K |
possibly damaging |
Het |
| Nlrp2 |
T |
A |
7: 5,340,534 (GRCm39) |
E93D |
probably benign |
Het |
| Olfm3 |
T |
A |
3: 114,895,608 (GRCm39) |
Y163* |
probably null |
Het |
| Or5p59 |
C |
T |
7: 107,702,555 (GRCm39) |
T13I |
probably benign |
Het |
| Pdzph1 |
A |
G |
17: 59,229,644 (GRCm39) |
S1005P |
probably damaging |
Het |
| Slc46a2 |
G |
A |
4: 59,914,150 (GRCm39) |
P258S |
possibly damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,556,138 (GRCm39) |
E21962G |
possibly damaging |
Het |
| Unc13a |
T |
C |
8: 72,087,202 (GRCm39) |
D1515G |
probably damaging |
Het |
| Vmn2r70 |
T |
C |
7: 85,208,800 (GRCm39) |
N559S |
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,662,032 (GRCm39) |
I158K |
probably benign |
Het |
|
| Other mutations in Or2ak5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
FR4548:Or2ak5
|
UTSW |
11 |
58,611,197 (GRCm39) |
missense |
probably benign |
|
|
R0626:Or2ak5
|
UTSW |
11 |
58,611,347 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1560:Or2ak5
|
UTSW |
11 |
58,611,513 (GRCm39) |
nonsense |
probably null |
|
|
R1822:Or2ak5
|
UTSW |
11 |
58,611,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3429:Or2ak5
|
UTSW |
11 |
58,611,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4880:Or2ak5
|
UTSW |
11 |
58,611,107 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5024:Or2ak5
|
UTSW |
11 |
58,611,776 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5429:Or2ak5
|
UTSW |
11 |
58,611,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5572:Or2ak5
|
UTSW |
11 |
58,611,055 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5653:Or2ak5
|
UTSW |
11 |
58,611,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5655:Or2ak5
|
UTSW |
11 |
58,611,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6003:Or2ak5
|
UTSW |
11 |
58,611,196 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6130:Or2ak5
|
UTSW |
11 |
58,611,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7071:Or2ak5
|
UTSW |
11 |
58,610,984 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8850:Or2ak5
|
UTSW |
11 |
58,611,572 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1186:Or2ak5
|
UTSW |
11 |
58,611,922 (GRCm39) |
start gained |
probably benign |
|
|
Z1187:Or2ak5
|
UTSW |
11 |
58,611,922 (GRCm39) |
start gained |
probably benign |
|
|
Z1188:Or2ak5
|
UTSW |
11 |
58,611,922 (GRCm39) |
start gained |
probably benign |
|
|
Z1189:Or2ak5
|
UTSW |
11 |
58,611,922 (GRCm39) |
start gained |
probably benign |
|
|
Z1190:Or2ak5
|
UTSW |
11 |
58,611,922 (GRCm39) |
start gained |
probably benign |
|
|
Z1191:Or2ak5
|
UTSW |
11 |
58,611,922 (GRCm39) |
start gained |
probably benign |
|
|
Z1192:Or2ak5
|
UTSW |
11 |
58,611,922 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCCTTCCAGGAGAATGTAAGG -3'
(R):5'- GAAGATCTGCTGCTCCATGG -3'
Sequencing Primer
(F):5'- CCTTCCAGGAGAATGTAAGGAGTGTG -3'
(R):5'- TGCTGCTCCATGGTCGCTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation