Incidental Mutation 'IGL01137:Or52l1'
ID |
51638 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Or52l1
|
Ensembl Gene |
ENSMUSG00000047794 |
Gene Name |
olfactory receptor family 52 subfamily L member 1 |
Synonyms |
MOR37-1, GA_x6K02T2PBJ9-7810071-7809121, Olfr685 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.189)
|
Stock # |
IGL01137
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
104829568-104830518 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 104829695 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 290
(V290A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148994
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051355]
[ENSMUST00000209409]
[ENSMUST00000214712]
[ENSMUST00000217432]
|
AlphaFold |
A0A1L1SVG7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051355
AA Change: V275A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000061561 Gene: ENSMUSG00000047794 AA Change: V275A
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
34 |
313 |
3e-107 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
38 |
217 |
2.9e-8 |
PFAM |
Pfam:7tm_1
|
44 |
295 |
7e-21 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209409
AA Change: V290A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214712
AA Change: V290A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217432
AA Change: V290A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Coding Region Coverage |
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
C |
A |
15: 94,292,492 (GRCm39) |
|
probably null |
Het |
Ankrd11 |
T |
C |
8: 123,611,075 (GRCm39) |
T2583A |
probably damaging |
Het |
Anxa7 |
G |
A |
14: 20,506,648 (GRCm39) |
Q431* |
probably null |
Het |
Asb15 |
T |
A |
6: 24,556,521 (GRCm39) |
D5E |
probably benign |
Het |
Bex1 |
C |
A |
X: 135,115,243 (GRCm39) |
D29Y |
probably damaging |
Het |
Cadm2 |
G |
A |
16: 66,612,238 (GRCm39) |
T108I |
probably damaging |
Het |
Cecr2 |
T |
G |
6: 120,738,989 (GRCm39) |
L1211V |
probably damaging |
Het |
Cntn2 |
T |
C |
1: 132,449,035 (GRCm39) |
|
probably benign |
Het |
Ctrc |
C |
A |
4: 141,566,065 (GRCm39) |
V198L |
possibly damaging |
Het |
Cyp2g1 |
A |
G |
7: 26,513,684 (GRCm39) |
S208G |
possibly damaging |
Het |
Ddx46 |
T |
A |
13: 55,817,530 (GRCm39) |
Y718* |
probably null |
Het |
Dlec1 |
T |
C |
9: 118,966,379 (GRCm39) |
I1116T |
probably damaging |
Het |
Dnajc13 |
A |
G |
9: 104,037,689 (GRCm39) |
Y2177H |
probably benign |
Het |
Dpp6 |
T |
C |
5: 27,919,486 (GRCm39) |
F661S |
probably damaging |
Het |
Dpy19l2 |
G |
A |
9: 24,569,858 (GRCm39) |
T365I |
possibly damaging |
Het |
Flot2 |
T |
C |
11: 77,940,333 (GRCm39) |
Y27H |
probably damaging |
Het |
Gsta4 |
T |
C |
9: 78,113,204 (GRCm39) |
Y95H |
possibly damaging |
Het |
Kir3dl1 |
A |
G |
X: 135,427,360 (GRCm39) |
T192A |
probably damaging |
Het |
Llgl1 |
T |
A |
11: 60,600,825 (GRCm39) |
N640K |
probably benign |
Het |
Lrch1 |
C |
T |
14: 74,994,532 (GRCm39) |
V691M |
probably damaging |
Het |
Myh9 |
T |
C |
15: 77,653,742 (GRCm39) |
D1302G |
probably benign |
Het |
Myo18a |
T |
G |
11: 77,718,655 (GRCm39) |
F935V |
probably damaging |
Het |
Mypn |
T |
C |
10: 62,988,633 (GRCm39) |
E464G |
probably benign |
Het |
Or5ac25 |
A |
C |
16: 59,182,335 (GRCm39) |
M82R |
probably benign |
Het |
Or5b101 |
A |
T |
19: 13,005,394 (GRCm39) |
F100I |
possibly damaging |
Het |
Or8k38 |
A |
T |
2: 86,488,055 (GRCm39) |
I249N |
possibly damaging |
Het |
R3hdm1 |
C |
T |
1: 128,109,612 (GRCm39) |
R39C |
probably damaging |
Het |
Rps3a3 |
A |
T |
13: 108,807,666 (GRCm39) |
|
probably benign |
Het |
Sec24b |
C |
T |
3: 129,801,093 (GRCm39) |
S401N |
probably benign |
Het |
Slc22a22 |
C |
A |
15: 57,117,674 (GRCm39) |
G289V |
probably damaging |
Het |
Stk33 |
T |
C |
7: 108,928,775 (GRCm39) |
I246V |
probably benign |
Het |
Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
Timmdc1 |
A |
T |
16: 38,338,747 (GRCm39) |
H114Q |
probably benign |
Het |
Tlcd2 |
T |
C |
11: 75,360,337 (GRCm39) |
Y127H |
probably damaging |
Het |
Tnfrsf11a |
G |
A |
1: 105,737,147 (GRCm39) |
D85N |
possibly damaging |
Het |
Trbc2 |
T |
C |
6: 41,524,751 (GRCm39) |
|
probably benign |
Het |
Unc13b |
G |
A |
4: 43,091,291 (GRCm39) |
R39H |
probably damaging |
Het |
Vwa8 |
T |
C |
14: 79,341,087 (GRCm39) |
L1521P |
probably damaging |
Het |
Zbtb17 |
T |
A |
4: 141,193,678 (GRCm39) |
C607* |
probably null |
Het |
|
Other mutations in Or52l1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01612:Or52l1
|
APN |
7 |
104,829,929 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02598:Or52l1
|
APN |
7 |
104,830,163 (GRCm39) |
missense |
probably damaging |
1.00 |
R0841:Or52l1
|
UTSW |
7 |
104,830,061 (GRCm39) |
missense |
probably damaging |
0.96 |
R1164:Or52l1
|
UTSW |
7 |
104,830,040 (GRCm39) |
missense |
probably benign |
0.02 |
R1711:Or52l1
|
UTSW |
7 |
104,829,967 (GRCm39) |
missense |
probably damaging |
0.99 |
R1891:Or52l1
|
UTSW |
7 |
104,829,754 (GRCm39) |
nonsense |
probably null |
|
R1901:Or52l1
|
UTSW |
7 |
104,830,079 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1990:Or52l1
|
UTSW |
7 |
104,830,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R3766:Or52l1
|
UTSW |
7 |
104,830,088 (GRCm39) |
missense |
probably damaging |
0.98 |
R4750:Or52l1
|
UTSW |
7 |
104,830,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R5056:Or52l1
|
UTSW |
7 |
104,829,779 (GRCm39) |
missense |
probably damaging |
1.00 |
R5061:Or52l1
|
UTSW |
7 |
104,829,864 (GRCm39) |
missense |
possibly damaging |
0.56 |
R6227:Or52l1
|
UTSW |
7 |
104,829,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R7619:Or52l1
|
UTSW |
7 |
104,829,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R8075:Or52l1
|
UTSW |
7 |
104,830,343 (GRCm39) |
missense |
probably damaging |
0.98 |
R8250:Or52l1
|
UTSW |
7 |
104,830,518 (GRCm39) |
missense |
|
|
R8951:Or52l1
|
UTSW |
7 |
104,829,638 (GRCm39) |
missense |
probably damaging |
0.99 |
R8961:Or52l1
|
UTSW |
7 |
104,830,376 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9214:Or52l1
|
UTSW |
7 |
104,829,587 (GRCm39) |
missense |
probably benign |
0.00 |
R9469:Or52l1
|
UTSW |
7 |
104,829,967 (GRCm39) |
missense |
probably damaging |
0.99 |
R9782:Or52l1
|
UTSW |
7 |
104,830,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-06-21 |