Incidental Mutation 'R5210:Or5b123'
| ID |
403115 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5b123
|
| Ensembl Gene |
ENSMUSG00000094846 |
| Gene Name |
olfactory receptor family 5 subfamily B member 123 |
| Synonyms |
Olfr1487, MOR202-18, GA_x6K02T2RE5P-3951719-3952666 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R5210 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
13596528-13597475 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13596763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 79
(K79R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149988
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076856]
[ENSMUST00000208347]
[ENSMUST00000209005]
[ENSMUST00000216688]
[ENSMUST00000217061]
|
| AlphaFold |
Q8VFQ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076856
AA Change: K79R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076128
Gene: ENSMUSG00000094846
AA Change: K79R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
306 |
4.8e-55 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
34 |
304 |
1e-6 |
PFAM |
|
Pfam:7tm_1
|
40 |
289 |
9.5e-19 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208347
AA Change: K36R
PolyPhen 2
Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209005
AA Change: K36R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216688
AA Change: K36R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217061
AA Change: K79R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.3133 |
| 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 |
| Or1o4 |
C |
A |
17: 37,590,824 (GRCm39) |
K162N |
probably benign |
Het |
| Or2w1b |
A |
T |
13: 21,300,222 (GRCm39) |
Y120F |
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 Or5b123 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01128:Or5b123
|
APN |
19 |
13,597,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0281:Or5b123
|
UTSW |
19 |
13,596,849 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0847:Or5b123
|
UTSW |
19 |
13,596,915 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1852:Or5b123
|
UTSW |
19 |
13,596,967 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2026:Or5b123
|
UTSW |
19 |
13,596,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2877:Or5b123
|
UTSW |
19 |
13,596,996 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3965:Or5b123
|
UTSW |
19 |
13,596,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4935:Or5b123
|
UTSW |
19 |
13,597,066 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5148:Or5b123
|
UTSW |
19 |
13,596,874 (GRCm39) |
nonsense |
probably null |
|
|
R5427:Or5b123
|
UTSW |
19 |
13,596,714 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5940:Or5b123
|
UTSW |
19 |
13,596,517 (GRCm39) |
splice site |
probably null |
|
|
R6110:Or5b123
|
UTSW |
19 |
13,597,249 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6125:Or5b123
|
UTSW |
19 |
13,597,249 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6294:Or5b123
|
UTSW |
19 |
13,596,730 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7051:Or5b123
|
UTSW |
19 |
13,596,769 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7052:Or5b123
|
UTSW |
19 |
13,596,990 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7324:Or5b123
|
UTSW |
19 |
13,596,942 (GRCm39) |
missense |
probably benign |
|
|
R7655:Or5b123
|
UTSW |
19 |
13,597,197 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7656:Or5b123
|
UTSW |
19 |
13,597,197 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7807:Or5b123
|
UTSW |
19 |
13,597,285 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7876:Or5b123
|
UTSW |
19 |
13,596,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8118:Or5b123
|
UTSW |
19 |
13,597,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8370:Or5b123
|
UTSW |
19 |
13,596,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9138:Or5b123
|
UTSW |
19 |
13,596,658 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9644:Or5b123
|
UTSW |
19 |
13,597,344 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9664:Or5b123
|
UTSW |
19 |
13,597,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Or5b123
|
UTSW |
19 |
13,597,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCACCATTCCTGCAAATTC -3'
(R):5'- GAGTCCACTGACATAAGATCCAG -3'
Sequencing Primer
(F):5'- TGATTCTGCTGGACTCCA -3'
(R):5'- GCAGGACACATATCGTAGTTGTC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation