Incidental Mutation 'R1158:Or5p52'
| ID |
101884 |
| 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 |
| MMRRC Submission |
039231-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R1158 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
107501926-107502858 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 107502130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 69
(V69I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000209670]
[ENSMUST00000210420]
[ENSMUST00000216937]
|
| AlphaFold |
Q8VG43 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084760
AA Change: V69I
PolyPhen 2
Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000081815
Gene: ENSMUSG00000063120
AA Change: V69I
| 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 |
possibly damaging
Transcript: ENSMUST00000209670
AA Change: V69I
PolyPhen 2
Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210420
AA Change: V69I
PolyPhen 2
Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210856
AA Change: V69I
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216937
AA Change: V69I
PolyPhen 2
Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.3%
|
| Validation Efficiency |
98% (43/44) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adpgk |
T |
C |
9: 59,217,566 (GRCm39) |
V193A |
possibly damaging |
Het |
| Ahnak |
A |
C |
19: 8,991,290 (GRCm39) |
E4191D |
probably benign |
Het |
| BC024139 |
T |
A |
15: 76,004,542 (GRCm39) |
|
probably benign |
Het |
| Bpifb9a |
T |
G |
2: 154,104,184 (GRCm39) |
I209S |
probably benign |
Het |
| Bst1 |
T |
G |
5: 43,997,834 (GRCm39) |
|
probably null |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Carf |
A |
G |
1: 60,186,998 (GRCm39) |
K499E |
probably benign |
Het |
| Casq2 |
A |
G |
3: 102,024,199 (GRCm39) |
E147G |
probably damaging |
Het |
| Cd8a |
T |
A |
6: 71,350,712 (GRCm39) |
V59D |
probably damaging |
Het |
| Chrm5 |
T |
C |
2: 112,310,214 (GRCm39) |
T301A |
probably benign |
Het |
| Cog5 |
G |
A |
12: 31,920,056 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
T |
C |
15: 48,156,170 (GRCm39) |
|
probably null |
Het |
| Dop1a |
T |
C |
9: 86,367,609 (GRCm39) |
S31P |
probably damaging |
Het |
| Eif1ad9 |
A |
T |
12: 88,296,438 (GRCm39) |
I139F |
unknown |
Het |
| Epb41 |
T |
C |
4: 131,727,502 (GRCm39) |
|
probably benign |
Het |
| Fhod3 |
C |
T |
18: 25,118,293 (GRCm39) |
A210V |
probably damaging |
Het |
| Gdpgp1 |
T |
C |
7: 79,888,250 (GRCm39) |
F94L |
probably benign |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Htr3b |
T |
C |
9: 48,847,390 (GRCm39) |
K375R |
possibly damaging |
Het |
| Inhbe |
G |
A |
10: 127,187,186 (GRCm39) |
R77W |
probably damaging |
Het |
| Itgb8 |
T |
C |
12: 119,166,231 (GRCm39) |
E100G |
probably damaging |
Het |
| Jakmip1 |
T |
C |
5: 37,248,472 (GRCm39) |
V44A |
possibly damaging |
Het |
| Lrp12 |
A |
G |
15: 39,741,827 (GRCm39) |
V315A |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,567,506 (GRCm39) |
T305S |
unknown |
Het |
| Map3k2 |
A |
G |
18: 32,350,211 (GRCm39) |
T354A |
probably benign |
Het |
| Mmp16 |
T |
C |
4: 17,987,726 (GRCm39) |
|
probably null |
Het |
| Mphosph10 |
T |
C |
7: 64,038,607 (GRCm39) |
|
probably benign |
Het |
| Or10a48 |
A |
G |
7: 108,424,385 (GRCm39) |
S274P |
probably damaging |
Het |
| Or10ak7 |
A |
T |
4: 118,791,614 (GRCm39) |
C144S |
probably damaging |
Het |
| Or4c52 |
T |
A |
2: 89,845,598 (GRCm39) |
I108N |
possibly damaging |
Het |
| Or4k47 |
T |
C |
2: 111,452,086 (GRCm39) |
E111G |
probably damaging |
Het |
| Slc43a3 |
C |
A |
2: 84,768,140 (GRCm39) |
F37L |
probably benign |
Het |
| Slf2 |
G |
T |
19: 44,919,855 (GRCm39) |
A36S |
probably damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,132,598 (GRCm39) |
|
probably benign |
Het |
| Thsd7b |
A |
C |
1: 130,117,672 (GRCm39) |
|
probably null |
Het |
| Tnfrsf18 |
A |
C |
4: 156,112,739 (GRCm39) |
I142L |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,632,855 (GRCm39) |
|
probably benign |
Het |
| Tufm |
T |
A |
7: 126,088,614 (GRCm39) |
|
probably null |
Het |
| Vmn2r69 |
A |
T |
7: 85,059,058 (GRCm39) |
|
probably benign |
Het |
| Zfp385c |
T |
C |
11: 100,520,709 (GRCm39) |
|
probably benign |
Het |
| Zfp964 |
T |
A |
8: 70,116,503 (GRCm39) |
C368S |
unknown |
Het |
| Zswim8 |
G |
A |
14: 20,771,736 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
R4605:Or5p52
|
UTSW |
7 |
107,502,445 (GRCm39) |
missense |
probably benign |
0.24 |
|
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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation