Mutagenetix > Incidental Mutation

Incidental Mutation 'R5056:Or52l1'

390846

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

042646-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

R5056 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104829568-104830518 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104829779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 262 (H262L)

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: H247L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000061561
Gene: ENSMUSG00000047794
AA Change: H247L

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: H262L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214712
AA Change: H262L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217432
AA Change: H262L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.2%

Validation Efficiency

99% (73/74)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	T	A	8: 117,698,421 (GRCm39)	K229*	probably null	Het
Adora2a	T	A	10: 75,161,992 (GRCm39)	S44T	probably damaging	Het
Agap3	T	C	5: 24,682,860 (GRCm39)	V459A	probably damaging	Het
Apc2	T	C	10: 80,137,148 (GRCm39)	V31A	probably benign	Het
Asic2	T	A	11: 80,862,429 (GRCm39)	K189N	possibly damaging	Het
Bbs10	C	T	10: 111,136,401 (GRCm39)	P505S	probably benign	Het
Brd10	A	T	19: 29,694,759 (GRCm39)	I1578K	probably benign	Het
Cdh20	G	T	1: 104,881,722 (GRCm39)	V396L	probably benign	Het
Cenpb	C	T	2: 131,020,091 (GRCm39)		probably benign	Het
Chil6	T	A	3: 106,301,659 (GRCm39)	Y147F	probably damaging	Het
Cluh	C	T	11: 74,552,772 (GRCm39)	R606C	probably damaging	Het
Cmtr1	A	G	17: 29,909,302 (GRCm39)	T404A	possibly damaging	Het
Cnot1	T	C	8: 96,467,636 (GRCm39)	N1499S	probably damaging	Het
Dmkn	T	C	7: 30,463,529 (GRCm39)	S61P	probably damaging	Het
Dmxl1	T	C	18: 50,003,990 (GRCm39)	C872R	probably benign	Het
Dnah3	A	G	7: 119,620,169 (GRCm39)	Y1587H	probably damaging	Het
Dsc2	A	T	18: 20,183,199 (GRCm39)	V73D	probably damaging	Het
F5	A	T	1: 164,019,601 (GRCm39)	Y692F	possibly damaging	Het
Fam184a	A	T	10: 53,550,670 (GRCm39)	L80I	probably damaging	Het
Foxj2	A	G	6: 122,810,833 (GRCm39)	H271R	probably benign	Het
Grm7	A	G	6: 111,057,404 (GRCm39)	T335A	probably damaging	Het
Hspa9	A	G	18: 35,071,734 (GRCm39)	L622P	probably damaging	Het
Kcna7	G	A	7: 45,056,015 (GRCm39)	R77H	probably damaging	Het
Kcnd3	T	A	3: 105,574,244 (GRCm39)		probably benign	Het
Klhdc8b	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	9: 108,326,184 (GRCm39)		probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lrch4	C	G	5: 137,635,113 (GRCm39)	N237K	probably damaging	Het
Lss	T	G	10: 76,388,760 (GRCm39)		probably null	Het
Map6	T	C	7: 98,985,859 (GRCm39)	F588L	probably benign	Het
Mbd6	C	T	10: 127,122,310 (GRCm39)	V173I	probably benign	Het
Med13	A	T	11: 86,219,391 (GRCm39)	S352T	probably benign	Het
Mettl16	T	A	11: 74,707,766 (GRCm39)	V320E	probably benign	Het
Myh7b	G	C	2: 155,474,293 (GRCm39)	R1669S	possibly damaging	Het
Nup188	T	A	2: 30,194,143 (GRCm39)	D149E	probably damaging	Het
Ogfrl1	A	G	1: 23,418,130 (GRCm39)	S83P	probably damaging	Het
Or5m13	T	A	2: 85,748,480 (GRCm39)	D70E	probably damaging	Het
Or8k36-ps1	T	A	2: 86,437,364 (GRCm39)	I184F	unknown	Het
Or9m1	T	C	2: 87,733,915 (GRCm39)	Y35C	probably damaging	Het
Pafah1b3	C	T	7: 24,994,764 (GRCm39)	R98Q	probably damaging	Het
Pde6b	A	T	5: 108,571,357 (GRCm39)	K437*	probably null	Het
Ppp1r12b	A	T	1: 134,762,130 (GRCm39)		probably benign	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Pramel34	T	C	5: 93,786,784 (GRCm39)		probably benign	Het
Prdm9	T	C	17: 15,782,679 (GRCm39)	Q104R	possibly damaging	Het
Rgs22	A	T	15: 36,050,391 (GRCm39)		probably null	Het
Rnf14	C	T	18: 38,441,441 (GRCm39)	P277L	probably damaging	Het
Robo4	T	C	9: 37,316,102 (GRCm39)	S258P	probably benign	Het
Sfrp1	T	A	8: 23,907,420 (GRCm39)	F207I	probably damaging	Het
Sgms1	A	G	19: 32,137,087 (GRCm39)	S160P	probably damaging	Het
Sil1	T	C	18: 35,402,755 (GRCm39)	K263R	probably benign	Het
St14	A	G	9: 31,008,847 (GRCm39)		probably null	Het
Syne2	A	G	12: 75,955,905 (GRCm39)		probably benign	Het
Tbc1d9	T	C	8: 83,995,835 (GRCm39)	S1013P	probably benign	Het
Tent5b	C	T	4: 133,207,749 (GRCm39)	R47W	possibly damaging	Het
Tmem67	T	C	4: 12,070,471 (GRCm39)	S352G	probably benign	Het
Trib2	C	A	12: 15,843,795 (GRCm39)	K282N	possibly damaging	Het
Trnau1ap	T	C	4: 132,054,482 (GRCm39)		probably benign	Het
Trpm4	T	C	7: 44,958,054 (GRCm39)	D952G	probably damaging	Het
Unc93b1	A	G	19: 3,992,762 (GRCm39)	N305D	possibly damaging	Het
Usp32	A	G	11: 84,917,621 (GRCm39)	V802A	probably benign	Het
Vmn2r48	T	A	7: 9,676,251 (GRCm39)	H410L	probably damaging	Het
Wfs1	T	C	5: 37,132,931 (GRCm39)	N116S	probably benign	Het
Wif1	A	T	10: 120,935,684 (GRCm39)	H333L	probably benign	Het
Zfp109	T	C	7: 23,928,162 (GRCm39)	T416A	possibly damaging	Het
Zfp808	T	A	13: 62,320,444 (GRCm39)	C558S	probably damaging	Het
Zpbp	T	C	11: 11,409,734 (GRCm39)	D116G	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- GTAGAACACCCTGAGCACTC -3'
(R):5'- CCATGCCTATTGTGAGCATATGG -3'

Sequencing Primer
(F):5'- TCGCTGGCGAATCTGTC -3'
(R):5'- CATATGGCTGTGGTAAAACTTGCC -3'

Posted On

2016-06-06