Incidental Mutation 'IGL02211:Or2ak4'
| ID |
284724 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or2ak4
|
| Ensembl Gene |
ENSMUSG00000107677 |
| Gene Name |
olfactory receptor family 2 subfamily AK member 4 |
| Synonyms |
MOR285-6_p, MOR285-3P, GA_x6K02T2NKPP-648708-647788, Olfr316 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
IGL02211
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
58643560-58650497 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 58649196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 235
(S235I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000189911]
[ENSMUST00000203731]
[ENSMUST00000215071]
|
| AlphaFold |
A0A0N4SVP2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189911
AA Change: S235I
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000139574
Gene: ENSMUSG00000108265
AA Change: S235I
| 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 |
possibly damaging
Transcript: ENSMUST00000203731
AA Change: S235I
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000145187
Gene: ENSMUSG00000107677
AA Change: S235I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
306 |
1e-45 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
220 |
6.2e-7 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
3.3e-22 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215071
AA Change: S235I
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
| Coding Region Coverage |
|
| 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 |
|---|
| Apoc3 |
C |
A |
9: 46,144,513 (GRCm39) |
|
probably benign |
Het |
| Atp8a2 |
C |
T |
14: 60,265,425 (GRCm39) |
G304R |
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cct4 |
A |
G |
11: 22,943,327 (GRCm39) |
|
probably benign |
Het |
| Cd28 |
T |
C |
1: 60,802,153 (GRCm39) |
V24A |
probably damaging |
Het |
| Cfap70 |
T |
C |
14: 20,445,040 (GRCm39) |
N1080S |
probably damaging |
Het |
| Cpa6 |
A |
T |
1: 10,665,861 (GRCm39) |
I59K |
possibly damaging |
Het |
| Cramp1 |
A |
G |
17: 25,196,610 (GRCm39) |
S835P |
possibly damaging |
Het |
| Crim1 |
T |
C |
17: 78,662,574 (GRCm39) |
L799S |
probably damaging |
Het |
| Cxcl16 |
T |
C |
11: 70,346,858 (GRCm39) |
H95R |
possibly damaging |
Het |
| Dip2c |
T |
A |
13: 9,660,883 (GRCm39) |
C915S |
probably damaging |
Het |
| Dytn |
T |
A |
1: 63,714,089 (GRCm39) |
N137Y |
possibly damaging |
Het |
| Exoc5 |
T |
A |
14: 49,251,667 (GRCm39) |
Q628L |
probably damaging |
Het |
| Flii |
A |
G |
11: 60,609,124 (GRCm39) |
|
probably benign |
Het |
| Hnrnph3 |
A |
T |
10: 62,853,121 (GRCm39) |
|
probably benign |
Het |
| Iqsec1 |
A |
G |
6: 90,648,591 (GRCm39) |
L830P |
probably damaging |
Het |
| Kank1 |
G |
T |
19: 25,407,702 (GRCm39) |
G1232V |
probably damaging |
Het |
| Kcnmb2 |
A |
G |
3: 32,252,483 (GRCm39) |
E228G |
probably damaging |
Het |
| Limk1 |
A |
T |
5: 134,686,491 (GRCm39) |
V538E |
probably damaging |
Het |
| Mmp20 |
T |
A |
9: 7,655,071 (GRCm39) |
I393K |
probably damaging |
Het |
| Mtmr1 |
A |
G |
X: 70,455,863 (GRCm39) |
D574G |
possibly damaging |
Het |
| Nr1h2 |
A |
C |
7: 44,199,884 (GRCm39) |
M345R |
probably damaging |
Het |
| Nyap1 |
T |
C |
5: 137,737,937 (GRCm39) |
H15R |
probably damaging |
Het |
| Or52h7 |
A |
T |
7: 104,214,333 (GRCm39) |
K302* |
probably null |
Het |
| Pde4b |
T |
G |
4: 102,448,019 (GRCm39) |
|
probably benign |
Het |
| Pgrmc2 |
A |
G |
3: 41,037,068 (GRCm39) |
V121A |
probably damaging |
Het |
| Ptges3 |
T |
C |
10: 127,911,927 (GRCm39) |
|
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,314,064 (GRCm39) |
S1595P |
probably benign |
Het |
| Rhbdf2 |
A |
G |
11: 116,491,261 (GRCm39) |
F625L |
possibly damaging |
Het |
| Rhpn1 |
T |
C |
15: 75,582,905 (GRCm39) |
S281P |
possibly damaging |
Het |
| Samd3 |
G |
T |
10: 26,109,455 (GRCm39) |
G128W |
probably damaging |
Het |
| Septin5 |
T |
C |
16: 18,443,629 (GRCm39) |
K51E |
probably damaging |
Het |
| Serpina7 |
G |
A |
X: 137,982,062 (GRCm39) |
T185I |
probably damaging |
Het |
| Slc25a25 |
A |
G |
2: 32,307,452 (GRCm39) |
V303A |
probably damaging |
Het |
| Slc5a4b |
A |
T |
10: 75,896,297 (GRCm39) |
|
probably benign |
Het |
| Srpk3 |
A |
T |
X: 72,818,754 (GRCm39) |
H114L |
probably benign |
Het |
| Sybu |
T |
G |
15: 44,536,862 (GRCm39) |
Q360P |
probably damaging |
Het |
| Vmn1r179 |
A |
T |
7: 23,628,630 (GRCm39) |
I274F |
probably benign |
Het |
| Wdsub1 |
G |
T |
2: 59,689,080 (GRCm39) |
R381S |
probably damaging |
Het |
| Wscd1 |
G |
A |
11: 71,679,801 (GRCm39) |
R558H |
probably damaging |
Het |
|
| Other mutations in Or2ak4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R4709:Or2ak4
|
UTSW |
11 |
58,649,013 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5503:Or2ak4
|
UTSW |
11 |
58,649,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6818:Or2ak4
|
UTSW |
11 |
58,648,783 (GRCm39) |
nonsense |
probably null |
|
|
R7155:Or2ak4
|
UTSW |
11 |
58,649,109 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7657:Or2ak4
|
UTSW |
11 |
58,648,755 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8507:Or2ak4
|
UTSW |
11 |
58,648,985 (GRCm39) |
nonsense |
probably null |
|
|
Z1186:Or2ak4
|
UTSW |
11 |
58,648,895 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1186:Or2ak4
|
UTSW |
11 |
58,648,793 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Or2ak4
|
UTSW |
11 |
58,649,186 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1186:Or2ak4
|
UTSW |
11 |
58,649,168 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Or2ak4
|
UTSW |
11 |
58,649,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1186:Or2ak4
|
UTSW |
11 |
58,648,931 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Or2ak4
|
UTSW |
11 |
58,648,895 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1187:Or2ak4
|
UTSW |
11 |
58,648,793 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Or2ak4
|
UTSW |
11 |
58,649,186 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1187:Or2ak4
|
UTSW |
11 |
58,649,168 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Or2ak4
|
UTSW |
11 |
58,649,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1187:Or2ak4
|
UTSW |
11 |
58,648,931 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Or2ak4
|
UTSW |
11 |
58,648,931 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Or2ak4
|
UTSW |
11 |
58,649,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1188:Or2ak4
|
UTSW |
11 |
58,649,168 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Or2ak4
|
UTSW |
11 |
58,649,186 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1188:Or2ak4
|
UTSW |
11 |
58,648,793 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Or2ak4
|
UTSW |
11 |
58,648,895 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1189:Or2ak4
|
UTSW |
11 |
58,648,895 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1189:Or2ak4
|
UTSW |
11 |
58,648,793 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Or2ak4
|
UTSW |
11 |
58,649,186 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1189:Or2ak4
|
UTSW |
11 |
58,649,168 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Or2ak4
|
UTSW |
11 |
58,649,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1189:Or2ak4
|
UTSW |
11 |
58,648,931 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Or2ak4
|
UTSW |
11 |
58,648,895 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1190:Or2ak4
|
UTSW |
11 |
58,648,793 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Or2ak4
|
UTSW |
11 |
58,649,186 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1190:Or2ak4
|
UTSW |
11 |
58,649,168 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Or2ak4
|
UTSW |
11 |
58,649,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1190:Or2ak4
|
UTSW |
11 |
58,648,931 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Or2ak4
|
UTSW |
11 |
58,648,895 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1191:Or2ak4
|
UTSW |
11 |
58,648,793 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Or2ak4
|
UTSW |
11 |
58,649,186 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1191:Or2ak4
|
UTSW |
11 |
58,649,168 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Or2ak4
|
UTSW |
11 |
58,649,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1191:Or2ak4
|
UTSW |
11 |
58,648,931 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Or2ak4
|
UTSW |
11 |
58,648,895 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1192:Or2ak4
|
UTSW |
11 |
58,648,793 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Or2ak4
|
UTSW |
11 |
58,649,186 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1192:Or2ak4
|
UTSW |
11 |
58,649,168 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Or2ak4
|
UTSW |
11 |
58,649,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1192:Or2ak4
|
UTSW |
11 |
58,648,931 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation