Incidental Mutation 'R2300:Or5ak22'
| ID |
245293 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5ak22
|
| Ensembl Gene |
ENSMUSG00000075221 |
| Gene Name |
olfactory receptor family 5 subfamily AK member 22 |
| Synonyms |
MOR203-1, Olfr992, GA_x6K02T2Q125-46877170-46876241 |
| MMRRC Submission |
040299-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R2300 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
85229946-85230875 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85230476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 134
(I134V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099927]
[ENSMUST00000213749]
[ENSMUST00000214895]
[ENSMUST00000215617]
|
| AlphaFold |
Q8VGC6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099927
AA Change: I134V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000097511
Gene: ENSMUSG00000075221
AA Change: I134V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
3.3e-51 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
285 |
3.3e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
7.1e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213749
AA Change: I134V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214895
AA Change: I134V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215617
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215967
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
G |
T |
8: 84,656,746 (GRCm39) |
E355* |
probably null |
Het |
| Aldh6a1 |
G |
T |
12: 84,486,303 (GRCm39) |
T205N |
probably damaging |
Het |
| Arhgap24 |
A |
G |
5: 103,008,291 (GRCm39) |
I71V |
probably damaging |
Het |
| Arid2 |
A |
T |
15: 96,299,887 (GRCm39) |
E1800V |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Cd53 |
T |
C |
3: 106,670,572 (GRCm39) |
T154A |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,855,241 (GRCm39) |
A2157T |
probably benign |
Het |
| Clca4b |
A |
T |
3: 144,622,432 (GRCm39) |
N544K |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,017,525 (GRCm39) |
E444G |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Gabrr1 |
A |
G |
4: 33,152,449 (GRCm39) |
K130E |
probably benign |
Het |
| H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
| Jag1 |
T |
C |
2: 136,938,235 (GRCm39) |
Y255C |
probably damaging |
Het |
| Kif11 |
A |
G |
19: 37,399,987 (GRCm39) |
T825A |
probably benign |
Het |
| Lama4 |
T |
A |
10: 38,963,316 (GRCm39) |
M1296K |
probably benign |
Het |
| Lrp1 |
G |
T |
10: 127,392,784 (GRCm39) |
C2760* |
probably null |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nolc1 |
CAG |
CAGAAG |
19: 46,069,798 (GRCm39) |
|
probably benign |
Het |
| Nolc1 |
CAG |
CAGTAG |
19: 46,069,807 (GRCm39) |
|
probably benign |
Het |
| Nop16 |
A |
G |
13: 54,733,679 (GRCm39) |
|
probably null |
Het |
| Or2n1 |
T |
A |
17: 38,486,441 (GRCm39) |
Y155* |
probably null |
Het |
| Ostf1 |
T |
C |
19: 18,558,644 (GRCm39) |
D213G |
probably damaging |
Het |
| Slc28a2 |
C |
T |
2: 122,272,259 (GRCm39) |
Q34* |
probably null |
Het |
| St18 |
A |
G |
1: 6,925,626 (GRCm39) |
D928G |
probably damaging |
Het |
| Stag1 |
T |
C |
9: 100,594,553 (GRCm39) |
V31A |
possibly damaging |
Het |
| Tcl1b1 |
G |
A |
12: 105,130,783 (GRCm39) |
A89T |
probably benign |
Het |
| Tsen54 |
A |
T |
11: 115,712,904 (GRCm39) |
S464C |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,737,792 (GRCm39) |
F4249S |
probably benign |
Het |
| Xdh |
A |
G |
17: 74,198,260 (GRCm39) |
F1209S |
probably damaging |
Het |
| Ylpm1 |
G |
A |
12: 85,107,093 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Or5ak22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01613:Or5ak22
|
APN |
2 |
85,230,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02538:Or5ak22
|
APN |
2 |
85,230,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02550:Or5ak22
|
APN |
2 |
85,230,166 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0128:Or5ak22
|
UTSW |
2 |
85,230,305 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0130:Or5ak22
|
UTSW |
2 |
85,230,305 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0345:Or5ak22
|
UTSW |
2 |
85,230,685 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0413:Or5ak22
|
UTSW |
2 |
85,230,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0535:Or5ak22
|
UTSW |
2 |
85,230,439 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1243:Or5ak22
|
UTSW |
2 |
85,230,617 (GRCm39) |
missense |
probably benign |
|
|
R1255:Or5ak22
|
UTSW |
2 |
85,230,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1293:Or5ak22
|
UTSW |
2 |
85,230,697 (GRCm39) |
splice site |
probably null |
|
|
R1840:Or5ak22
|
UTSW |
2 |
85,230,512 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1847:Or5ak22
|
UTSW |
2 |
85,230,785 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4574:Or5ak22
|
UTSW |
2 |
85,230,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4872:Or5ak22
|
UTSW |
2 |
85,230,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5435:Or5ak22
|
UTSW |
2 |
85,230,814 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6846:Or5ak22
|
UTSW |
2 |
85,230,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7075:Or5ak22
|
UTSW |
2 |
85,230,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7253:Or5ak22
|
UTSW |
2 |
85,229,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7454:Or5ak22
|
UTSW |
2 |
85,229,955 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7880:Or5ak22
|
UTSW |
2 |
85,230,379 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9098:Or5ak22
|
UTSW |
2 |
85,229,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9345:Or5ak22
|
UTSW |
2 |
85,230,097 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9756:Or5ak22
|
UTSW |
2 |
85,230,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF007:Or5ak22
|
UTSW |
2 |
85,230,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTTAGGATGGCAGCCAAG -3'
(R):5'- GGCATGATCCTGCTCATCAAG -3'
Sequencing Primer
(F):5'- TGTCAGTACCATGATATTGAGGTC -3'
(R):5'- ATGTACTTTTTCCTGCAGCATTTGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation