Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02598:Or52l1'

299954

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) question?

Stock #

IGL02598

Quality Score

Status

Chromosome

Chromosomal Location

104829568-104830518 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104830163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 134 (V134A)

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: V119A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000061561
Gene: ENSMUSG00000047794
AA Change: V119A

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: V134A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214712
AA Change: V134A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217432
AA Change: V134A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933414I15Rik	A	T	11: 50,834,448 (GRCm39)	M1K	probably null	Het
Abca13	C	T	11: 9,381,898 (GRCm39)	T3850I	probably damaging	Het
Abcc4	A	T	14: 118,905,781 (GRCm39)	L95*	probably null	Het
Acacb	A	G	5: 114,384,098 (GRCm39)	Y2209C	probably damaging	Het
Acadm	A	G	3: 153,644,181 (GRCm39)		probably benign	Het
Arid2	G	A	15: 96,269,417 (GRCm39)	V1177M	probably damaging	Het
Atp8a1	A	T	5: 67,840,099 (GRCm39)		probably null	Het
Catsperd	A	G	17: 56,954,815 (GRCm39)		probably null	Het
Cd28	A	G	1: 60,802,498 (GRCm39)		probably benign	Het
Cep164	A	G	9: 45,682,002 (GRCm39)	Y1934H	probably damaging	Het
Cep350	T	C	1: 155,738,713 (GRCm39)	I2377V	probably benign	Het
Csmd3	T	C	15: 47,533,086 (GRCm39)	K1581E	probably damaging	Het
Dab2	A	T	15: 6,458,847 (GRCm39)	N232I	probably damaging	Het
Dyrk4	G	A	6: 126,860,982 (GRCm39)		probably benign	Het
Efcab14	T	A	4: 115,597,631 (GRCm39)	C75*	probably null	Het
Elovl1	T	C	4: 118,288,616 (GRCm39)		probably null	Het
Eps8l2	T	G	7: 140,934,849 (GRCm39)		probably benign	Het
Grik1	A	T	16: 87,744,872 (GRCm39)	V460E	probably damaging	Het
Gtf2f2	A	G	14: 76,245,182 (GRCm39)	S35P	probably benign	Het
Ifi203	A	G	1: 173,762,568 (GRCm39)		probably benign	Het
Ifi209	T	C	1: 173,472,281 (GRCm39)	V374A	probably damaging	Het
Kics2	G	A	10: 121,575,876 (GRCm39)		probably benign	Het
Lars1	A	G	18: 42,360,342 (GRCm39)	S705P	possibly damaging	Het
Lcmt1	A	G	7: 123,020,871 (GRCm39)		probably benign	Het
Limd1	T	C	9: 123,345,933 (GRCm39)	S571P	probably benign	Het
Limd1	T	A	9: 123,309,236 (GRCm39)	Y312N	probably benign	Het
Lin28b	A	T	10: 45,296,622 (GRCm39)	D125E	possibly damaging	Het
Lmtk3	T	C	7: 45,442,564 (GRCm39)	S416P	probably damaging	Het
Map7d3	T	C	X: 55,855,146 (GRCm39)	T446A	probably benign	Het
Masp1	T	A	16: 23,278,381 (GRCm39)	M523L	probably benign	Het
Mroh4	C	A	15: 74,483,092 (GRCm39)		probably null	Het
Mtmr6	G	A	14: 60,537,953 (GRCm39)	A651T	probably damaging	Het
Myocd	A	G	11: 65,074,296 (GRCm39)	S738P	probably benign	Het
Or10a2	A	T	7: 106,673,923 (GRCm39)	N296I	possibly damaging	Het
Or4d5	A	T	9: 40,011,861 (GRCm39)	F308L	probably benign	Het
Or5d46	A	T	2: 88,170,595 (GRCm39)	I229F	possibly damaging	Het
Or6c3b	A	T	10: 129,527,142 (GRCm39)	I256N	possibly damaging	Het
Parg	G	T	14: 31,936,281 (GRCm39)	V479L	probably damaging	Het
Pcdhb10	C	A	18: 37,546,834 (GRCm39)	H637N	possibly damaging	Het
Plekhg2	G	A	7: 28,059,900 (GRCm39)	T1118I	possibly damaging	Het
Podxl	T	C	6: 31,501,355 (GRCm39)	E400G	probably damaging	Het
Prss54	C	A	8: 96,292,337 (GRCm39)	V81F	probably damaging	Het
Pzp	A	G	6: 128,464,420 (GRCm39)	L1369P	probably benign	Het
Rfx8	A	T	1: 39,735,128 (GRCm39)		probably benign	Het
Rgs6	C	T	12: 83,138,571 (GRCm39)	P302S	probably benign	Het
Rnf148	A	C	6: 23,654,456 (GRCm39)	I180S	probably damaging	Het
Sacm1l	A	G	9: 123,408,061 (GRCm39)	D350G	probably benign	Het
Slc33a1	C	T	3: 63,850,753 (GRCm39)	G524S	probably benign	Het
Slc5a7	A	G	17: 54,591,221 (GRCm39)	V237A	probably benign	Het
Spink7	T	C	18: 62,727,356 (GRCm39)	D56G	probably damaging	Het
Syn3	A	G	10: 86,303,063 (GRCm39)	S31P	probably damaging	Het
Tesl1	A	T	X: 23,773,710 (GRCm39)	T404S	probably benign	Het
Thrb	C	A	14: 18,008,606 (GRCm38)	P110Q	possibly damaging	Het
Vmn2r76	G	T	7: 85,877,879 (GRCm39)	T506K	probably benign	Het
Vps45	A	G	3: 95,938,354 (GRCm39)	L486P	probably benign	Het
Zan	G	A	5: 137,444,473 (GRCm39)	T1823M	unknown	Het
Zdhhc6	T	A	19: 55,302,959 (GRCm39)	Q14L	probably benign	Het
Zfp990	A	T	4: 145,263,533 (GRCm39)	N177I	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
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

2015-04-16