Incidental Mutation 'R1506:Or2ak7'
| ID |
167944 |
| 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 |
039554-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R1506 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
58574701-58575621 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58575014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 105
(L105Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150051
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000204718]
[ENSMUST00000214662]
|
| AlphaFold |
Q7TRZ4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082307
AA Change: L105Q
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000080924
Gene: ENSMUSG00000061344
AA Change: L105Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000122047
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204718
AA Change: L105Q
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000145531
Gene: ENSMUSG00000107711
AA Change: L105Q
| 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 |
probably benign
Transcript: ENSMUST00000214662
AA Change: L105Q
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.7%
|
| Validation Efficiency |
98% (61/62) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
G |
T |
11: 94,248,144 (GRCm39) |
T1152K |
possibly damaging |
Het |
| Acp3 |
T |
A |
9: 104,201,373 (GRCm39) |
T82S |
probably damaging |
Het |
| Adam23 |
C |
T |
1: 63,586,973 (GRCm39) |
P445S |
probably benign |
Het |
| Ap3b1 |
T |
A |
13: 94,582,651 (GRCm39) |
|
probably benign |
Het |
| Artn |
A |
G |
4: 117,784,058 (GRCm39) |
V136A |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,965,806 (GRCm39) |
T2403A |
probably damaging |
Het |
| Bbof1 |
G |
T |
12: 84,470,273 (GRCm39) |
V120L |
probably damaging |
Het |
| Boc |
A |
G |
16: 44,323,928 (GRCm39) |
Y158H |
probably damaging |
Het |
| Casp8 |
A |
G |
1: 58,863,355 (GRCm39) |
E105G |
probably damaging |
Het |
| Cers4 |
T |
C |
8: 4,570,557 (GRCm39) |
F206L |
probably benign |
Het |
| Chrna9 |
A |
G |
5: 66,126,479 (GRCm39) |
T78A |
probably benign |
Het |
| Creb3 |
A |
T |
4: 43,566,193 (GRCm39) |
T263S |
possibly damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,766,443 (GRCm39) |
V384A |
probably damaging |
Het |
| Dip2b |
G |
A |
15: 100,080,994 (GRCm39) |
V879M |
probably damaging |
Het |
| Dnah17 |
C |
A |
11: 118,016,213 (GRCm39) |
V14F |
possibly damaging |
Het |
| Epb41l4b |
T |
A |
4: 57,088,824 (GRCm39) |
K144N |
probably damaging |
Het |
| Ercc6 |
A |
T |
14: 32,291,821 (GRCm39) |
I1062F |
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fat2 |
C |
A |
11: 55,175,090 (GRCm39) |
E1874D |
probably benign |
Het |
| Fbxw21 |
T |
A |
9: 108,977,257 (GRCm39) |
I151F |
probably damaging |
Het |
| Fhip2a |
A |
G |
19: 57,357,007 (GRCm39) |
I33V |
probably benign |
Het |
| Foxn1 |
A |
G |
11: 78,256,761 (GRCm39) |
|
probably benign |
Het |
| Gpr63 |
G |
A |
4: 25,008,227 (GRCm39) |
R317H |
probably damaging |
Het |
| Grip1 |
C |
A |
10: 119,814,356 (GRCm39) |
H296N |
probably damaging |
Het |
| Gtdc1 |
A |
T |
2: 44,465,506 (GRCm39) |
M288K |
possibly damaging |
Het |
| Guf1 |
T |
A |
5: 69,724,509 (GRCm39) |
D488E |
possibly damaging |
Het |
| Gvin3 |
C |
T |
7: 106,200,788 (GRCm39) |
D819N |
probably benign |
Het |
| Heatr5b |
C |
A |
17: 79,060,576 (GRCm39) |
R2033L |
probably damaging |
Het |
| Hsd17b2 |
T |
A |
8: 118,429,004 (GRCm39) |
|
probably null |
Het |
| Ino80 |
A |
T |
2: 119,255,746 (GRCm39) |
L913* |
probably null |
Het |
| Inppl1 |
A |
C |
7: 101,473,174 (GRCm39) |
S1159A |
probably benign |
Het |
| Kcnk7 |
G |
A |
19: 5,756,140 (GRCm39) |
C122Y |
probably damaging |
Het |
| Mtor |
A |
G |
4: 148,620,962 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,574,033 (GRCm39) |
S704C |
possibly damaging |
Het |
| Nckap5 |
A |
T |
1: 125,953,650 (GRCm39) |
C967* |
probably null |
Het |
| Nek10 |
T |
C |
14: 14,999,078 (GRCm38) |
|
probably benign |
Het |
| Oas1h |
A |
T |
5: 121,009,951 (GRCm39) |
D342V |
possibly damaging |
Het |
| Or10j2 |
A |
G |
1: 173,098,336 (GRCm39) |
N198S |
probably benign |
Het |
| Or2n1 |
A |
T |
17: 38,486,091 (GRCm39) |
M39L |
probably benign |
Het |
| Or4m1 |
A |
G |
14: 50,557,941 (GRCm39) |
V117A |
probably benign |
Het |
| Or8b1b |
T |
C |
9: 38,375,439 (GRCm39) |
M34T |
probably benign |
Het |
| Prex1 |
A |
T |
2: 166,429,001 (GRCm39) |
V694E |
probably damaging |
Het |
| Rad50 |
G |
A |
11: 53,570,312 (GRCm39) |
A810V |
probably damaging |
Het |
| Rcor1 |
T |
C |
12: 111,076,271 (GRCm39) |
S410P |
probably damaging |
Het |
| Rps14 |
A |
T |
18: 60,909,551 (GRCm39) |
N26I |
probably benign |
Het |
| Slc38a1 |
T |
C |
15: 96,483,431 (GRCm39) |
D299G |
probably benign |
Het |
| Slc5a1 |
T |
A |
5: 33,312,052 (GRCm39) |
N481K |
possibly damaging |
Het |
| Slco3a1 |
A |
T |
7: 74,009,683 (GRCm39) |
|
probably null |
Het |
| Spart |
T |
C |
3: 55,024,992 (GRCm39) |
S196P |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,394,307 (GRCm39) |
T1701A |
probably benign |
Het |
| Sugt1 |
A |
G |
14: 79,862,365 (GRCm39) |
N271S |
probably benign |
Het |
| Tbx15 |
A |
T |
3: 99,259,228 (GRCm39) |
L366F |
possibly damaging |
Het |
| Tnc |
G |
A |
4: 63,925,921 (GRCm39) |
T953I |
possibly damaging |
Het |
| Uqcc1 |
A |
G |
2: 155,753,738 (GRCm39) |
S46P |
probably damaging |
Het |
| Vmn2r18 |
T |
C |
5: 151,499,099 (GRCm39) |
|
probably null |
Het |
| Vmn2r7 |
T |
A |
3: 64,614,500 (GRCm39) |
Y438F |
probably benign |
Het |
| Vmn2r72 |
T |
A |
7: 85,398,419 (GRCm39) |
K520N |
probably benign |
Het |
| Vps52 |
T |
C |
17: 34,176,868 (GRCm39) |
L74P |
probably damaging |
Het |
| Xpo5 |
G |
T |
17: 46,538,814 (GRCm39) |
M673I |
probably benign |
Het |
| Zscan18 |
A |
G |
7: 12,508,129 (GRCm39) |
V457A |
probably damaging |
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 |
|
R4255:Or2ak7
|
UTSW |
11 |
58,574,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4345:Or2ak7
|
UTSW |
11 |
58,574,771 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
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'- TGCAGTGGCTTTCATAGGCAACATC -3'
(R):5'- CCTTCCAGGAGAATGCAAGGAGTG -3'
Sequencing Primer
(F):5'- TTTCATAGGCAACATCACACTGG -3'
(R):5'- CACGAGGACTGTATGCTCATACTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation