Incidental Mutation 'R4605:Or5p52'
| ID |
345967 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5p52
|
| Ensembl Gene |
ENSMUSG00000073893 |
| Gene Name |
olfactory receptor family 5 subfamily P member 52 |
| Synonyms |
Olfr472, GA_x6K02T2PBJ9-10231953-10232885, MOR204-5 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R4605 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
107501926-107502858 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 107502445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 174
(I174L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000209670]
[ENSMUST00000210420]
[ENSMUST00000216937]
|
| AlphaFold |
Q8VG43 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084760
AA Change: I174L
PolyPhen 2
Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000081815
Gene: ENSMUSG00000063120
AA Change: I174L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
5.6e-49 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
8.1e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209670
AA Change: I174L
PolyPhen 2
Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210420
AA Change: I174L
PolyPhen 2
Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210856
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216937
AA Change: I174L
PolyPhen 2
Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankra2 |
A |
G |
13: 98,402,742 (GRCm39) |
|
probably benign |
Het |
| Atp9b |
T |
A |
18: 80,796,364 (GRCm39) |
|
probably null |
Het |
| Birc6 |
G |
A |
17: 74,946,929 (GRCm39) |
D2885N |
probably damaging |
Het |
| Chaf1b |
A |
T |
16: 93,684,977 (GRCm39) |
N142I |
possibly damaging |
Het |
| Ckap5 |
G |
A |
2: 91,406,559 (GRCm39) |
G787S |
probably damaging |
Het |
| Ctc1 |
G |
T |
11: 68,920,552 (GRCm39) |
C372F |
possibly damaging |
Het |
| Dip2b |
A |
G |
15: 100,107,517 (GRCm39) |
T1176A |
probably benign |
Het |
| Epha10 |
A |
G |
4: 124,779,550 (GRCm39) |
E132G |
probably damaging |
Het |
| Extl1 |
A |
G |
4: 134,087,145 (GRCm39) |
V471A |
probably benign |
Het |
| Fgd6 |
T |
C |
10: 93,880,217 (GRCm39) |
L357P |
probably benign |
Het |
| Gapvd1 |
A |
T |
2: 34,618,549 (GRCm39) |
C275S |
probably damaging |
Het |
| Kcnj2 |
G |
A |
11: 110,963,676 (GRCm39) |
C356Y |
probably damaging |
Het |
| Kcnk10 |
T |
C |
12: 98,456,219 (GRCm39) |
D204G |
probably damaging |
Het |
| Krtap9-1 |
A |
C |
11: 99,764,579 (GRCm39) |
E105A |
unknown |
Het |
| Loxhd1 |
G |
A |
18: 77,493,642 (GRCm39) |
V668I |
probably benign |
Het |
| Ly86 |
T |
C |
13: 37,558,987 (GRCm39) |
I62T |
possibly damaging |
Het |
| Maip1 |
A |
G |
1: 57,450,891 (GRCm39) |
I178V |
probably benign |
Het |
| Mical3 |
G |
A |
6: 121,011,041 (GRCm39) |
Q386* |
probably null |
Het |
| Or5an11 |
T |
C |
19: 12,246,532 (GRCm39) |
*313Q |
probably null |
Het |
| Or5b107 |
T |
A |
19: 13,142,612 (GRCm39) |
V78D |
probably damaging |
Het |
| Or8j3b |
G |
A |
2: 86,205,141 (GRCm39) |
T205I |
probably benign |
Het |
| Pcdha12 |
T |
C |
18: 37,154,576 (GRCm39) |
S432P |
probably damaging |
Het |
| Prex1 |
A |
T |
2: 166,555,464 (GRCm39) |
Y59N |
probably benign |
Het |
| Sbf1 |
A |
G |
15: 89,187,684 (GRCm39) |
F654L |
probably damaging |
Het |
| Sh2d5 |
T |
A |
4: 137,984,566 (GRCm39) |
Y187* |
probably null |
Het |
| Slc9a4 |
T |
C |
1: 40,640,195 (GRCm39) |
|
probably null |
Het |
| Smyd2 |
A |
G |
1: 189,629,623 (GRCm39) |
S136P |
probably damaging |
Het |
| Spata31e2 |
T |
C |
1: 26,722,267 (GRCm39) |
K971R |
probably benign |
Het |
| Srsf11 |
A |
T |
3: 157,728,560 (GRCm39) |
L115* |
probably null |
Het |
| Tbx19 |
C |
T |
1: 164,981,153 (GRCm39) |
V114I |
possibly damaging |
Het |
| Unc5b |
A |
G |
10: 60,610,182 (GRCm39) |
V545A |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,642,998 (GRCm39) |
Y4120C |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,617,403 (GRCm39) |
T3002A |
probably damaging |
Het |
| Zkscan2 |
A |
T |
7: 123,097,947 (GRCm39) |
W150R |
probably damaging |
Het |
|
| Other mutations in Or5p52 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00225:Or5p52
|
APN |
7 |
107,502,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02002:Or5p52
|
APN |
7 |
107,502,497 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02320:Or5p52
|
APN |
7 |
107,502,038 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02701:Or5p52
|
APN |
7 |
107,502,649 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL03022:Or5p52
|
APN |
7 |
107,502,188 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL03214:Or5p52
|
APN |
7 |
107,502,173 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03257:Or5p52
|
APN |
7 |
107,501,963 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03372:Or5p52
|
APN |
7 |
107,502,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G1Funyon:Or5p52
|
UTSW |
7 |
107,502,833 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0081:Or5p52
|
UTSW |
7 |
107,502,212 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0669:Or5p52
|
UTSW |
7 |
107,502,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0932:Or5p52
|
UTSW |
7 |
107,502,397 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1158:Or5p52
|
UTSW |
7 |
107,502,130 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1746:Or5p52
|
UTSW |
7 |
107,502,093 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3777:Or5p52
|
UTSW |
7 |
107,501,954 (GRCm39) |
missense |
probably benign |
|
|
R3778:Or5p52
|
UTSW |
7 |
107,501,954 (GRCm39) |
missense |
probably benign |
|
|
R4661:Or5p52
|
UTSW |
7 |
107,502,188 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4675:Or5p52
|
UTSW |
7 |
107,502,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5374:Or5p52
|
UTSW |
7 |
107,502,698 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5686:Or5p52
|
UTSW |
7 |
107,502,119 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6030:Or5p52
|
UTSW |
7 |
107,502,620 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6030:Or5p52
|
UTSW |
7 |
107,502,620 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6164:Or5p52
|
UTSW |
7 |
107,502,595 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6347:Or5p52
|
UTSW |
7 |
107,502,157 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6995:Or5p52
|
UTSW |
7 |
107,502,829 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7035:Or5p52
|
UTSW |
7 |
107,502,140 (GRCm39) |
missense |
probably benign |
|
|
R7818:Or5p52
|
UTSW |
7 |
107,502,230 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7890:Or5p52
|
UTSW |
7 |
107,502,250 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8189:Or5p52
|
UTSW |
7 |
107,501,939 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8301:Or5p52
|
UTSW |
7 |
107,502,833 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8965:Or5p52
|
UTSW |
7 |
107,502,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9269:Or5p52
|
UTSW |
7 |
107,502,527 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9478:Or5p52
|
UTSW |
7 |
107,502,238 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9566:Or5p52
|
UTSW |
7 |
107,502,409 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
Z1176:Or5p52
|
UTSW |
7 |
107,502,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTACCTGTGCAGCTCAACTCTG -3'
(R):5'- TCAGTGGAGCGCATCTTCAG -3'
Sequencing Primer
(F):5'- GCAGCTCAACTCTGTATGACAGTG -3'
(R):5'- CATCTTCAGGATGGTGATAAGTATG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation