Incidental Mutation 'R6227:Or52l1'
| ID |
504401 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or52l1
|
| Ensembl Gene |
ENSMUSG00000047794 |
| Gene Name |
olfactory receptor family 52 subfamily L member 1 |
| Synonyms |
MOR37-1, GA_x6K02T2PBJ9-7810071-7809121, Olfr685 |
| MMRRC Submission |
044398-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.189)
|
| Stock # |
R6227 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
104829568-104830518 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104829917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 216
(Y216C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148994
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051355]
[ENSMUST00000209409]
[ENSMUST00000214712]
[ENSMUST00000217432]
|
| AlphaFold |
A0A1L1SVG7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051355
AA Change: Y201C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061561
Gene: ENSMUSG00000047794
AA Change: Y201C
| 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 damaging
Transcript: ENSMUST00000209409
AA Change: Y216C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214712
AA Change: Y216C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217432
AA Change: Y216C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (61/63) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
C |
2: 19,558,581 (GRCm39) |
|
probably null |
Het |
| Abca4 |
T |
A |
3: 121,930,743 (GRCm39) |
Y205* |
probably null |
Het |
| Adgrf1 |
A |
G |
17: 43,621,164 (GRCm39) |
D467G |
probably benign |
Het |
| Atp7b |
T |
C |
8: 22,510,841 (GRCm39) |
D550G |
possibly damaging |
Het |
| Bicd1 |
T |
A |
6: 149,414,674 (GRCm39) |
Y462* |
probably null |
Het |
| Cfap97 |
T |
C |
8: 46,644,769 (GRCm39) |
|
probably null |
Het |
| Csf1r |
T |
A |
18: 61,258,900 (GRCm39) |
Y706* |
probably null |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dst |
A |
G |
1: 34,233,621 (GRCm39) |
D3443G |
probably benign |
Het |
| Fktn |
C |
T |
4: 53,731,136 (GRCm39) |
A96V |
probably benign |
Het |
| Inppl1 |
G |
A |
7: 101,473,506 (GRCm39) |
T1048M |
possibly damaging |
Het |
| Itga2 |
T |
C |
13: 114,976,097 (GRCm39) |
T1092A |
probably benign |
Het |
| Lactbl1 |
C |
A |
4: 136,365,229 (GRCm39) |
A527E |
probably benign |
Het |
| Miga1 |
C |
T |
3: 151,984,586 (GRCm39) |
A510T |
probably benign |
Het |
| Mip |
T |
A |
10: 128,061,875 (GRCm39) |
L42* |
probably null |
Het |
| Naca |
T |
G |
10: 127,879,785 (GRCm39) |
|
probably benign |
Het |
| Or51f5 |
A |
T |
7: 102,423,883 (GRCm39) |
I51F |
probably damaging |
Het |
| Or6c69 |
T |
A |
10: 129,747,536 (GRCm39) |
T204S |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,783,862 (GRCm39) |
M1986K |
probably damaging |
Het |
| Pex6 |
T |
A |
17: 47,023,034 (GRCm39) |
D203E |
probably benign |
Het |
| Rlbp1 |
T |
C |
7: 79,029,876 (GRCm39) |
N119S |
probably benign |
Het |
| Rptn |
C |
G |
3: 93,305,437 (GRCm39) |
H923Q |
possibly damaging |
Het |
| Rusc1 |
T |
A |
3: 88,999,048 (GRCm39) |
T245S |
probably benign |
Het |
| Slc26a5 |
A |
T |
5: 22,026,095 (GRCm39) |
C378S |
probably damaging |
Het |
| Smtn |
A |
G |
11: 3,477,624 (GRCm39) |
|
probably benign |
Het |
| Tes3-ps |
T |
C |
13: 49,647,516 (GRCm39) |
C131R |
probably damaging |
Het |
| Thbs4 |
T |
C |
13: 92,911,190 (GRCm39) |
E331G |
probably null |
Het |
| Tlr4 |
T |
C |
4: 66,758,832 (GRCm39) |
Y542H |
probably benign |
Het |
| Trf |
G |
A |
9: 103,107,504 (GRCm39) |
|
probably benign |
Het |
| Trim75 |
T |
A |
8: 65,435,748 (GRCm39) |
H234L |
probably benign |
Het |
| Zan |
T |
G |
5: 137,466,605 (GRCm39) |
R417S |
probably damaging |
Het |
| Zfp213 |
T |
C |
17: 23,776,996 (GRCm39) |
T349A |
probably benign |
Het |
| Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Or52l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01137:Or52l1
|
APN |
7 |
104,829,695 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAGCAGAACATGGACATG -3'
(R):5'- CAGGGATTATAGGGCGCATTGG -3'
Sequencing Primer
(F):5'- CATGGTGGCCAAAGCGGTG -3'
(R):5'- CGCATTGGGCTGGTAGTAC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation