Incidental Mutation 'R5706:Or52u1'
ID |
451974 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or52u1
|
Ensembl Gene |
ENSMUSG00000073925 |
Gene Name |
olfactory receptor family 52 subfamily U member 1 |
Synonyms |
MOR38-2, Olfr654, GA_x6K02T2PBJ9-7215221-7216195 |
MMRRC Submission |
043331-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R5706 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
104236926-104238081 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 104237097 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 46
(S46A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095775
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098173]
[ENSMUST00000210457]
[ENSMUST00000213984]
[ENSMUST00000215585]
[ENSMUST00000217466]
|
AlphaFold |
Q8VF27 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000098173
AA Change: S46A
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000095775 Gene: ENSMUSG00000073925 AA Change: S46A
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
Pfam:7TM_GPCR_Srbc
|
43 |
176 |
2.5e-8 |
PFAM |
Pfam:7tm_4
|
49 |
328 |
1.7e-103 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
53 |
325 |
1.6e-7 |
PFAM |
Pfam:7tm_1
|
59 |
310 |
9.2e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210457
AA Change: S29A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213984
AA Change: S29A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215585
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217466
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
A |
3: 121,847,910 (GRCm39) |
M77K |
probably benign |
Het |
Amy1 |
A |
G |
3: 113,349,769 (GRCm39) |
V467A |
probably damaging |
Het |
Atf4 |
T |
C |
15: 80,140,531 (GRCm39) |
V11A |
possibly damaging |
Het |
B4galt1 |
T |
C |
4: 40,807,268 (GRCm39) |
N373D |
probably damaging |
Het |
Bpifa3 |
A |
G |
2: 153,977,498 (GRCm39) |
K112R |
probably damaging |
Het |
Chd2 |
T |
A |
7: 73,141,105 (GRCm39) |
Y596F |
possibly damaging |
Het |
Clspn |
T |
C |
4: 126,472,211 (GRCm39) |
S962P |
probably damaging |
Het |
Cyp2c68 |
T |
C |
19: 39,722,762 (GRCm39) |
D262G |
possibly damaging |
Het |
Dcaf11 |
T |
C |
14: 55,803,152 (GRCm39) |
I282T |
probably damaging |
Het |
Dmxl1 |
T |
C |
18: 50,090,462 (GRCm39) |
|
probably null |
Het |
Dnah11 |
T |
G |
12: 117,987,670 (GRCm39) |
K2411Q |
probably damaging |
Het |
Elf3 |
A |
G |
1: 135,184,220 (GRCm39) |
V196A |
probably benign |
Het |
Fhad1 |
T |
G |
4: 141,681,427 (GRCm39) |
T538P |
probably damaging |
Het |
Fkbp10 |
A |
G |
11: 100,311,849 (GRCm39) |
D174G |
probably damaging |
Het |
Gas6 |
A |
G |
8: 13,527,098 (GRCm39) |
S217P |
probably damaging |
Het |
Heatr5b |
C |
T |
17: 79,074,304 (GRCm39) |
|
probably null |
Het |
Iqgap3 |
A |
G |
3: 88,023,215 (GRCm39) |
E502G |
probably benign |
Het |
Klc1 |
T |
C |
12: 111,762,061 (GRCm39) |
V577A |
possibly damaging |
Het |
Lck |
T |
C |
4: 129,445,431 (GRCm39) |
|
probably null |
Het |
Mc3r |
C |
A |
2: 172,091,610 (GRCm39) |
Y277* |
probably null |
Het |
Mlxipl |
T |
C |
5: 135,162,458 (GRCm39) |
V640A |
probably benign |
Het |
Mrc2 |
A |
T |
11: 105,223,169 (GRCm39) |
N471Y |
probably damaging |
Het |
Ncan |
T |
A |
8: 70,554,667 (GRCm39) |
H1050L |
probably damaging |
Het |
Nrl |
C |
A |
14: 55,759,889 (GRCm39) |
V13F |
probably damaging |
Het |
Obscn |
T |
A |
11: 58,967,082 (GRCm39) |
Y546F |
probably damaging |
Het |
Or6c209 |
A |
G |
10: 129,483,960 (GRCm39) |
|
probably null |
Het |
Or6d14 |
A |
G |
6: 116,534,074 (GRCm39) |
I229M |
probably damaging |
Het |
Pde3b |
G |
A |
7: 114,120,927 (GRCm39) |
G684D |
probably damaging |
Het |
Prkaa1 |
C |
T |
15: 5,203,823 (GRCm39) |
T244I |
probably benign |
Het |
Scfd2 |
A |
T |
5: 74,367,059 (GRCm39) |
|
probably null |
Het |
Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
Smg1 |
A |
T |
7: 117,744,813 (GRCm39) |
V3113D |
possibly damaging |
Het |
Sorbs1 |
T |
C |
19: 40,365,325 (GRCm39) |
T153A |
probably benign |
Het |
Spag16 |
A |
G |
1: 69,909,448 (GRCm39) |
T182A |
probably benign |
Het |
Spopfm1 |
T |
A |
3: 94,173,959 (GRCm39) |
H322Q |
possibly damaging |
Het |
Svs5 |
T |
C |
2: 164,079,589 (GRCm39) |
K106R |
possibly damaging |
Het |
Tenm1 |
A |
G |
X: 42,163,572 (GRCm39) |
V107A |
possibly damaging |
Het |
Topaz1 |
A |
T |
9: 122,628,550 (GRCm39) |
I1546F |
possibly damaging |
Het |
Tubgcp2 |
C |
A |
7: 139,612,138 (GRCm39) |
E78* |
probably null |
Het |
Vars1 |
A |
G |
17: 35,224,457 (GRCm39) |
|
probably null |
Het |
Vmn2r109 |
A |
T |
17: 20,774,567 (GRCm39) |
W263R |
probably benign |
Het |
|
Other mutations in Or52u1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01481:Or52u1
|
APN |
7 |
104,237,067 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01677:Or52u1
|
APN |
7 |
104,237,352 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01807:Or52u1
|
APN |
7 |
104,237,091 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03113:Or52u1
|
APN |
7 |
104,237,940 (GRCm39) |
missense |
probably benign |
0.01 |
R0504:Or52u1
|
UTSW |
7 |
104,237,682 (GRCm39) |
nonsense |
probably null |
|
R0647:Or52u1
|
UTSW |
7 |
104,237,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R0941:Or52u1
|
UTSW |
7 |
104,237,545 (GRCm39) |
missense |
probably damaging |
1.00 |
R0945:Or52u1
|
UTSW |
7 |
104,237,879 (GRCm39) |
missense |
probably damaging |
1.00 |
R1423:Or52u1
|
UTSW |
7 |
104,237,682 (GRCm39) |
nonsense |
probably null |
|
R1860:Or52u1
|
UTSW |
7 |
104,237,112 (GRCm39) |
missense |
probably damaging |
0.98 |
R2872:Or52u1
|
UTSW |
7 |
104,237,700 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2872:Or52u1
|
UTSW |
7 |
104,237,700 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4082:Or52u1
|
UTSW |
7 |
104,237,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R4760:Or52u1
|
UTSW |
7 |
104,237,696 (GRCm39) |
missense |
probably benign |
0.32 |
R4787:Or52u1
|
UTSW |
7 |
104,237,167 (GRCm39) |
missense |
probably benign |
|
R4969:Or52u1
|
UTSW |
7 |
104,237,730 (GRCm39) |
missense |
probably damaging |
1.00 |
R5186:Or52u1
|
UTSW |
7 |
104,237,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R6582:Or52u1
|
UTSW |
7 |
104,237,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R7076:Or52u1
|
UTSW |
7 |
104,237,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R7155:Or52u1
|
UTSW |
7 |
104,237,764 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7424:Or52u1
|
UTSW |
7 |
104,237,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R7559:Or52u1
|
UTSW |
7 |
104,237,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R7722:Or52u1
|
UTSW |
7 |
104,237,505 (GRCm39) |
missense |
possibly damaging |
0.77 |
Z1177:Or52u1
|
UTSW |
7 |
104,237,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGTGCCTGGCTGCTTAAC -3'
(R):5'- ATGCAGAGCACCTTAGGAATGG -3'
Sequencing Primer
(F):5'- AGTGCCTGGCTGCTTAACATATAC -3'
(R):5'- CACCTTAGGAATGGTGGTCGTAGAC -3'
|
Posted On |
2017-01-03 |