Incidental Mutation 'R4345:Or2ak7'
| ID |
324303 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2ak7
|
| Ensembl Gene |
ENSMUSG00000107711 |
| Gene Name |
olfactory receptor family 2 subfamily AK member 7 |
| Synonyms |
MOR285-4, GA_x6K02T2NKPP-730312-729392, Olfr320, GA_x6K02T2NKPP-733777-732813, MOR285-5, Olfr321-ps1 |
| MMRRC Submission |
041666-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
R4345 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
58574701-58575621 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58574771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 24
(D24G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150051
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000204718]
[ENSMUST00000214662]
|
| AlphaFold |
Q7TRZ4 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122047
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190555
AA Change: D24G
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000140968
Gene: ENSMUSG00000100688
AA Change: D24G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
41 |
290 |
1.7e-28 |
PFAM |
|
Pfam:7tm_4
|
139 |
283 |
4.1e-40 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204718
AA Change: D24G
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000145531
Gene: ENSMUSG00000107711
AA Change: D24G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
306 |
8.4e-45 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.1e-22 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214662
AA Change: D24G
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
96% (47/49) |
| 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 |
|---|
| Asap2 |
T |
C |
12: 21,280,832 (GRCm39) |
W449R |
probably damaging |
Het |
| Astn1 |
T |
A |
1: 158,329,602 (GRCm39) |
|
probably null |
Het |
| C3ar1 |
T |
C |
6: 122,827,659 (GRCm39) |
D186G |
probably damaging |
Het |
| Fbf1 |
A |
G |
11: 116,038,568 (GRCm39) |
V851A |
probably benign |
Het |
| Foxp4 |
G |
A |
17: 48,185,573 (GRCm39) |
T500M |
unknown |
Het |
| Gm5878 |
G |
A |
6: 85,102,633 (GRCm39) |
R31* |
probably null |
Het |
| Gramd4 |
T |
C |
15: 86,019,094 (GRCm39) |
S581P |
probably damaging |
Het |
| Heatr5b |
A |
T |
17: 79,067,940 (GRCm39) |
V1816E |
possibly damaging |
Het |
| Igf2r |
C |
T |
17: 12,928,398 (GRCm39) |
E982K |
possibly damaging |
Het |
| Il1r1 |
A |
G |
1: 40,337,084 (GRCm39) |
D224G |
probably benign |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Lactb2 |
T |
A |
1: 13,730,574 (GRCm39) |
Y34F |
probably damaging |
Het |
| Lepr |
G |
A |
4: 101,622,349 (GRCm39) |
|
probably null |
Het |
| Loxhd1 |
A |
G |
18: 77,486,697 (GRCm39) |
I1261V |
possibly damaging |
Het |
| Map4k3 |
A |
G |
17: 80,904,980 (GRCm39) |
|
probably null |
Het |
| Mcee |
T |
C |
7: 64,061,686 (GRCm39) |
L109P |
probably damaging |
Het |
| Mier3 |
A |
G |
13: 111,841,817 (GRCm39) |
D124G |
probably damaging |
Het |
| Mrpl43 |
T |
C |
19: 44,994,549 (GRCm39) |
Y64C |
probably damaging |
Het |
| Nfasc |
A |
G |
1: 132,559,443 (GRCm39) |
F229S |
probably damaging |
Het |
| Nsd3 |
G |
C |
8: 26,131,333 (GRCm39) |
G233R |
probably benign |
Het |
| Or8k27 |
T |
A |
2: 86,276,189 (GRCm39) |
I46F |
probably damaging |
Het |
| Pdzd8 |
T |
C |
19: 59,288,560 (GRCm39) |
T947A |
probably benign |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Pno1 |
A |
G |
11: 17,159,095 (GRCm39) |
S158P |
possibly damaging |
Het |
| Prr14l |
A |
G |
5: 32,985,920 (GRCm39) |
S1192P |
probably damaging |
Het |
| Setbp1 |
T |
A |
18: 79,129,794 (GRCm39) |
E146V |
probably damaging |
Het |
| Slc9a5 |
T |
C |
8: 106,076,087 (GRCm39) |
S27P |
probably benign |
Het |
| Sri |
G |
T |
5: 8,109,427 (GRCm39) |
|
probably null |
Het |
| Stard9 |
G |
A |
2: 120,532,427 (GRCm39) |
V2895I |
probably benign |
Het |
| Tgfbrap1 |
T |
C |
1: 43,095,866 (GRCm39) |
D524G |
probably benign |
Het |
| Them4 |
A |
G |
3: 94,237,172 (GRCm39) |
T211A |
possibly damaging |
Het |
| Thoc2l |
A |
G |
5: 104,669,315 (GRCm39) |
E1279G |
probably benign |
Het |
| Trpm3 |
A |
T |
19: 22,875,061 (GRCm39) |
S568C |
probably damaging |
Het |
| Ttl |
T |
C |
2: 128,917,778 (GRCm39) |
L80P |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,586,660 (GRCm39) |
N13423K |
possibly damaging |
Het |
| Usp10 |
T |
A |
8: 120,681,553 (GRCm39) |
L670Q |
probably damaging |
Het |
| Usp4 |
T |
A |
9: 108,245,222 (GRCm39) |
|
probably benign |
Het |
| Vmn1r72 |
T |
A |
7: 11,403,963 (GRCm39) |
T162S |
possibly damaging |
Het |
| Zmym5 |
T |
C |
14: 57,034,083 (GRCm39) |
N376S |
probably benign |
Het |
| Zswim6 |
G |
T |
13: 107,863,466 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Or2ak7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01778:Or2ak7
|
APN |
11 |
58,575,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02293:Or2ak7
|
APN |
11 |
58,574,996 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03001:Or2ak7
|
APN |
11 |
58,574,702 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
IGL03039:Or2ak7
|
APN |
11 |
58,574,837 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0064:Or2ak7
|
UTSW |
11 |
58,575,301 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1506:Or2ak7
|
UTSW |
11 |
58,575,014 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4255:Or2ak7
|
UTSW |
11 |
58,574,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4646:Or2ak7
|
UTSW |
11 |
58,575,556 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4951:Or2ak7
|
UTSW |
11 |
58,575,589 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5591:Or2ak7
|
UTSW |
11 |
58,574,951 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6244:Or2ak7
|
UTSW |
11 |
58,574,830 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6325:Or2ak7
|
UTSW |
11 |
58,575,354 (GRCm39) |
nonsense |
probably null |
|
|
R7894:Or2ak7
|
UTSW |
11 |
58,575,500 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8852:Or2ak7
|
UTSW |
11 |
58,574,966 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8860:Or2ak7
|
UTSW |
11 |
58,574,966 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9076:Or2ak7
|
UTSW |
11 |
58,574,722 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1186:Or2ak7
|
UTSW |
11 |
58,575,083 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Or2ak7
|
UTSW |
11 |
58,574,815 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Or2ak7
|
UTSW |
11 |
58,574,758 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Or2ak7
|
UTSW |
11 |
58,575,289 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1187:Or2ak7
|
UTSW |
11 |
58,574,815 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Or2ak7
|
UTSW |
11 |
58,574,758 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Or2ak7
|
UTSW |
11 |
58,575,548 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Or2ak7
|
UTSW |
11 |
58,575,289 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1187:Or2ak7
|
UTSW |
11 |
58,575,083 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Or2ak7
|
UTSW |
11 |
58,574,941 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Or2ak7
|
UTSW |
11 |
58,574,815 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Or2ak7
|
UTSW |
11 |
58,574,941 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Or2ak7
|
UTSW |
11 |
58,575,083 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Or2ak7
|
UTSW |
11 |
58,575,289 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1188:Or2ak7
|
UTSW |
11 |
58,575,541 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Or2ak7
|
UTSW |
11 |
58,575,548 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Or2ak7
|
UTSW |
11 |
58,574,758 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Or2ak7
|
UTSW |
11 |
58,575,289 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1189:Or2ak7
|
UTSW |
11 |
58,575,083 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Or2ak7
|
UTSW |
11 |
58,574,758 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Or2ak7
|
UTSW |
11 |
58,574,758 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Or2ak7
|
UTSW |
11 |
58,575,548 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Or2ak7
|
UTSW |
11 |
58,575,541 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Or2ak7
|
UTSW |
11 |
58,575,289 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1190:Or2ak7
|
UTSW |
11 |
58,575,083 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Or2ak7
|
UTSW |
11 |
58,574,941 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Or2ak7
|
UTSW |
11 |
58,574,815 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Or2ak7
|
UTSW |
11 |
58,574,758 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Or2ak7
|
UTSW |
11 |
58,575,548 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Or2ak7
|
UTSW |
11 |
58,575,541 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Or2ak7
|
UTSW |
11 |
58,575,289 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1191:Or2ak7
|
UTSW |
11 |
58,575,083 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Or2ak7
|
UTSW |
11 |
58,574,941 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Or2ak7
|
UTSW |
11 |
58,574,815 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Or2ak7
|
UTSW |
11 |
58,575,083 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Or2ak7
|
UTSW |
11 |
58,574,815 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Or2ak7
|
UTSW |
11 |
58,574,758 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Or2ak7
|
UTSW |
11 |
58,575,289 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGCCCTAGAGCTATTCAGGG -3'
(R):5'- AAATGGCCTTGGTGTCTGAGAG -3'
Sequencing Primer
(F):5'- CCTAGAGCTATTCAGGGAAACTATC -3'
(R):5'- AAGTTAGCTGCCACCTTGG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation