Incidental Mutation 'R5210:Or1o4'
| ID |
403110 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1o4
|
| Ensembl Gene |
ENSMUSG00000061972 |
| Gene Name |
olfactory receptor family 1 subfamily O member 4 |
| Synonyms |
MOR156-1, GA_x6K02T2PSCP-1720261-1719344, Olfr99 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R5210 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
37590392-37591309 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 37590824 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 162
(K162N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077585]
[ENSMUST00000216328]
|
| AlphaFold |
Q8VFE4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077585
AA Change: K162N
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000076781
Gene: ENSMUSG00000061972
AA Change: K162N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
28 |
305 |
1.8e-58 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
32 |
302 |
1.4e-6 |
PFAM |
|
Pfam:7tm_1
|
38 |
287 |
1e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173568
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216328
AA Change: K162N
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216370
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (40/41) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
T |
A |
5: 35,994,416 (GRCm39) |
V342E |
probably benign |
Het |
| Adgre4 |
T |
A |
17: 56,092,029 (GRCm39) |
N96K |
probably damaging |
Het |
| Aopep |
A |
G |
13: 63,215,924 (GRCm39) |
I399V |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,087,414 (GRCm39) |
V710A |
possibly damaging |
Het |
| Ccdc171 |
A |
G |
4: 83,473,093 (GRCm39) |
E174G |
probably damaging |
Het |
| Col11a1 |
T |
C |
3: 113,946,806 (GRCm39) |
F1026S |
probably damaging |
Het |
| Coro1c |
A |
G |
5: 113,983,367 (GRCm39) |
L387P |
probably damaging |
Het |
| Dsg1c |
C |
T |
18: 20,407,758 (GRCm39) |
T368I |
probably damaging |
Het |
| Exoc3l4 |
C |
A |
12: 111,395,275 (GRCm39) |
|
probably benign |
Het |
| Extl1 |
T |
C |
4: 134,087,895 (GRCm39) |
D453G |
probably benign |
Het |
| Gm21136 |
T |
C |
7: 38,567,165 (GRCm39) |
|
noncoding transcript |
Het |
| H3c4 |
G |
T |
13: 23,760,015 (GRCm39) |
G14C |
possibly damaging |
Het |
| Ifi208 |
T |
C |
1: 173,510,831 (GRCm39) |
S329P |
probably benign |
Het |
| Iscu |
T |
A |
5: 113,915,034 (GRCm39) |
L182* |
probably null |
Het |
| Klra6 |
T |
A |
6: 129,995,855 (GRCm39) |
K168* |
probably null |
Het |
| Map3k5 |
T |
C |
10: 19,900,647 (GRCm39) |
S274P |
possibly damaging |
Het |
| Megf6 |
G |
T |
4: 154,354,273 (GRCm39) |
|
probably benign |
Het |
| Mmp12 |
T |
A |
9: 7,349,729 (GRCm39) |
Y53* |
probably null |
Het |
| Nucb2 |
T |
A |
7: 116,128,222 (GRCm39) |
Y278N |
probably damaging |
Het |
| Numa1 |
C |
A |
7: 101,649,188 (GRCm39) |
A973E |
probably benign |
Het |
| Or2w1b |
A |
T |
13: 21,300,222 (GRCm39) |
Y120F |
probably damaging |
Het |
| Or5b123 |
A |
G |
19: 13,596,763 (GRCm39) |
K79R |
probably damaging |
Het |
| Or7g18 |
T |
A |
9: 18,787,103 (GRCm39) |
L157Q |
probably damaging |
Het |
| Pcdhga3 |
C |
A |
18: 37,808,963 (GRCm39) |
T472K |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,763,464 (GRCm39) |
D694G |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,607,199 (GRCm39) |
|
probably null |
Het |
| Pou3f2 |
C |
T |
4: 22,487,324 (GRCm39) |
D270N |
probably damaging |
Het |
| Prrc2a |
G |
A |
17: 35,372,596 (GRCm39) |
R1682W |
probably damaging |
Het |
| Rb1 |
A |
G |
14: 73,436,751 (GRCm39) |
F838S |
probably damaging |
Het |
| Sec24c |
A |
G |
14: 20,741,872 (GRCm39) |
E769G |
probably damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Tmem63c |
A |
T |
12: 87,136,172 (GRCm39) |
E796V |
probably benign |
Het |
| Tomm70a |
G |
A |
16: 56,953,614 (GRCm39) |
|
probably null |
Het |
| Tpcn1 |
G |
A |
5: 120,677,279 (GRCm39) |
T676I |
probably damaging |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
|
| Other mutations in Or1o4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01878:Or1o4
|
APN |
17 |
37,590,891 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02954:Or1o4
|
APN |
17 |
37,591,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0533:Or1o4
|
UTSW |
17 |
37,591,182 (GRCm39) |
nonsense |
probably null |
|
|
R1480:Or1o4
|
UTSW |
17 |
37,590,636 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2872:Or1o4
|
UTSW |
17 |
37,590,867 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R2872:Or1o4
|
UTSW |
17 |
37,590,867 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R3772:Or1o4
|
UTSW |
17 |
37,590,745 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3826:Or1o4
|
UTSW |
17 |
37,591,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3827:Or1o4
|
UTSW |
17 |
37,591,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3829:Or1o4
|
UTSW |
17 |
37,591,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5361:Or1o4
|
UTSW |
17 |
37,590,501 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6213:Or1o4
|
UTSW |
17 |
37,591,264 (GRCm39) |
missense |
probably benign |
|
|
R6399:Or1o4
|
UTSW |
17 |
37,590,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6881:Or1o4
|
UTSW |
17 |
37,591,200 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7938:Or1o4
|
UTSW |
17 |
37,590,991 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8097:Or1o4
|
UTSW |
17 |
37,590,818 (GRCm39) |
nonsense |
probably null |
|
|
R8125:Or1o4
|
UTSW |
17 |
37,590,935 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8218:Or1o4
|
UTSW |
17 |
37,590,711 (GRCm39) |
missense |
probably benign |
|
|
R9050:Or1o4
|
UTSW |
17 |
37,590,820 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9126:Or1o4
|
UTSW |
17 |
37,590,745 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9434:Or1o4
|
UTSW |
17 |
37,591,254 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9495:Or1o4
|
UTSW |
17 |
37,591,386 (GRCm39) |
start gained |
probably benign |
|
|
R9514:Or1o4
|
UTSW |
17 |
37,591,386 (GRCm39) |
start gained |
probably benign |
|
|
Z1176:Or1o4
|
UTSW |
17 |
37,590,565 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Or1o4
|
UTSW |
17 |
37,591,100 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCACGTGGACAATGCTTTC -3'
(R):5'- GCTGACATGGATAACCTGCTTC -3'
Sequencing Primer
(F):5'- TGCTGATGGAACCTTAGCCACAG -3'
(R):5'- CTAGCAGTCATGGCTATTGACAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation