Incidental Mutation 'R6582:Or52u1'
| ID |
524150 |
| 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 |
044706-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R6582 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
104236926-104238081 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104237218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 69
(L69P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098173]
[ENSMUST00000210457]
[ENSMUST00000213984]
[ENSMUST00000215585]
[ENSMUST00000217466]
|
| AlphaFold |
Q8VF27 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098173
AA Change: L86P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095775
Gene: ENSMUSG00000073925
AA Change: L86P
| 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 damaging
Transcript: ENSMUST00000210457
AA Change: L69P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213984
AA Change: L69P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215585
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217466
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
100% (40/40) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,297,384 (GRCm39) |
T2369A |
probably benign |
Het |
| Abhd6 |
T |
G |
14: 8,042,828 (GRCm38) |
|
probably null |
Het |
| Abhd6 |
G |
T |
14: 8,042,826 (GRCm38) |
G128C |
probably damaging |
Het |
| Acsm3 |
A |
G |
7: 119,378,896 (GRCm39) |
E426G |
probably benign |
Het |
| Ankrd11 |
T |
C |
8: 123,618,368 (GRCm39) |
D1828G |
probably benign |
Het |
| Asmt |
T |
A |
X: 169,108,766 (GRCm39) |
|
probably null |
Het |
| Casp4 |
A |
G |
9: 5,324,884 (GRCm39) |
Q232R |
probably benign |
Het |
| Cenpt |
A |
T |
8: 106,575,833 (GRCm39) |
L171* |
probably null |
Het |
| Chd3 |
AGCGGCGGCGGCGGCGGCGG |
AGCGGCGGCGGCGGCGG |
11: 69,259,982 (GRCm39) |
|
probably benign |
Het |
| Col5a2 |
G |
T |
1: 45,429,275 (GRCm39) |
H948N |
possibly damaging |
Het |
| Dnah9 |
G |
T |
11: 65,951,923 (GRCm39) |
H1859N |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,664,104 (GRCm39) |
R1993Q |
probably benign |
Het |
| Fbxw8 |
C |
A |
5: 118,263,028 (GRCm39) |
R217L |
probably benign |
Het |
| Flnb |
T |
G |
14: 7,892,275 (GRCm38) |
|
probably null |
Het |
| Fyb2 |
A |
G |
4: 104,802,739 (GRCm39) |
N214D |
probably benign |
Het |
| Gbp2b |
A |
G |
3: 142,316,801 (GRCm39) |
E484G |
possibly damaging |
Het |
| Gzmk |
A |
G |
13: 113,317,045 (GRCm39) |
Y45H |
probably damaging |
Het |
| Ivl |
CCTGCTGCTGCTGCT |
CCTGCTGCTGCT |
3: 92,479,217 (GRCm39) |
|
probably benign |
Het |
| Kcnj6 |
A |
G |
16: 94,633,685 (GRCm39) |
V142A |
possibly damaging |
Het |
| Klri2 |
A |
T |
6: 129,716,096 (GRCm39) |
I81K |
possibly damaging |
Het |
| Lama3 |
T |
A |
18: 12,710,897 (GRCm39) |
V3144E |
probably damaging |
Het |
| Mark1 |
G |
A |
1: 184,644,786 (GRCm39) |
S390L |
possibly damaging |
Het |
| Mbd3l1 |
T |
C |
9: 18,396,024 (GRCm39) |
Y50H |
probably benign |
Het |
| Mcat |
T |
C |
15: 83,433,383 (GRCm39) |
N220S |
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,282,941 (GRCm39) |
E81G |
probably benign |
Het |
| Neto1 |
A |
T |
18: 86,512,985 (GRCm39) |
K327* |
probably null |
Het |
| Or10j3 |
G |
T |
1: 173,031,847 (GRCm39) |
R308L |
probably benign |
Het |
| Or4a67 |
A |
T |
2: 88,598,587 (GRCm39) |
L24Q |
probably damaging |
Het |
| Or52p1 |
A |
T |
7: 104,267,648 (GRCm39) |
Y254F |
probably damaging |
Het |
| Pidd1 |
A |
T |
7: 141,019,494 (GRCm39) |
V722D |
probably damaging |
Het |
| Ppp2r2a |
G |
T |
14: 67,257,253 (GRCm39) |
H326N |
probably damaging |
Het |
| Smarca5 |
G |
A |
8: 81,446,281 (GRCm39) |
T473I |
probably damaging |
Het |
| Spg11 |
C |
A |
2: 121,922,773 (GRCm39) |
W892L |
probably damaging |
Het |
| Tas2r110 |
T |
A |
6: 132,845,248 (GRCm39) |
I93N |
possibly damaging |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Vmn1r71 |
T |
A |
7: 10,482,608 (GRCm39) |
I27F |
probably benign |
Het |
| Vsnl1 |
A |
G |
12: 11,376,489 (GRCm39) |
V132A |
probably benign |
Het |
| Wdsub1 |
T |
C |
2: 59,708,652 (GRCm39) |
T74A |
probably damaging |
Het |
| Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
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 |
|
R5706:Or52u1
|
UTSW |
7 |
104,237,097 (GRCm39) |
missense |
probably benign |
0.02 |
|
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'- CACCATGATGCCTTGCAACAG -3'
(R):5'- ACGCAAGGGCTTACAGATAG -3'
Sequencing Primer
(F):5'- GATGCCTTGCAACAGCACCAG -3'
(R):5'- GGGCTTACAGATAGCCACATAACG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation