Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02456:Or51l4'

294171

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or51l4

Ensembl Gene

ENSMUSG00000050281

Gene Name

olfactory receptor family 51 subfamily L member 4

Synonyms

Olfr630, MOR17-1, GA_x6K02T2PBJ9-6483085-6482126

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

IGL02456

Quality Score

Status

Chromosome

Chromosomal Location

103403357-103406557 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103404700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 31 (I31F)

Ref Sequence

ENSEMBL: ENSMUSP00000102493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106880]

AlphaFold

Q9EQQ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106880
AA Change: I31F

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102493
Gene: ENSMUSG00000050281
AA Change: I31F

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	37	305	3.7e-8	PFAM
Pfam:7tm_1	43	294	8.4e-25	PFAM
Pfam:7tm_4	144	287	9e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217072

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921511C20Rik	T	A	X: 126,302,584 (GRCm39)	Y174*	probably null	Het
Apc	C	A	18: 34,446,935 (GRCm39)	S1243*	probably null	Het
Atp8b5	A	G	4: 43,365,578 (GRCm39)	T731A	probably benign	Het
Bcl2a1c	T	A	9: 114,159,458 (GRCm39)	F79I	probably damaging	Het
Brip1	G	T	11: 85,955,925 (GRCm39)	L863I	possibly damaging	Het
Cbx4	T	A	11: 118,972,938 (GRCm39)	K146*	probably null	Het
Ces1a	C	T	8: 93,766,126 (GRCm39)	V163I	possibly damaging	Het
Ces5a	C	T	8: 94,255,272 (GRCm39)		probably benign	Het
Cfhr1	A	C	1: 139,484,131 (GRCm39)	N128K	possibly damaging	Het
Clcn3	T	C	8: 61,394,391 (GRCm39)	D46G	probably damaging	Het
Cntnap1	T	G	11: 101,068,955 (GRCm39)	I166S	probably benign	Het
Cntnap3	A	T	13: 64,946,872 (GRCm39)		probably benign	Het
Cntnap5c	T	A	17: 58,714,739 (GRCm39)		probably benign	Het
Ddx23	A	T	15: 98,545,430 (GRCm39)	V626E	probably damaging	Het
Dele1	T	A	18: 38,394,177 (GRCm39)	L458Q	probably damaging	Het
Gcm2	T	C	13: 41,256,477 (GRCm39)	Y424C	probably benign	Het
Gm9964	A	G	11: 79,187,196 (GRCm39)	F84L	probably damaging	Het
Grn	T	A	11: 102,326,930 (GRCm39)	D509E	probably benign	Het
Iho1	G	T	9: 108,283,820 (GRCm39)	T208K	probably benign	Het
Kdm5c	G	A	X: 151,029,314 (GRCm39)	D343N	probably damaging	Het
Ly75	C	T	2: 60,124,125 (GRCm39)	M1717I	probably benign	Het
Map1a	C	A	2: 121,129,134 (GRCm39)	P133T	probably damaging	Het
Mpp2	C	A	11: 101,950,199 (GRCm39)	A552S	possibly damaging	Het
Mtr	T	C	13: 12,213,980 (GRCm39)	I897M	probably damaging	Het
Npas3	A	T	12: 54,095,550 (GRCm39)	I337F	probably damaging	Het
Nup85	T	C	11: 115,472,691 (GRCm39)		probably benign	Het
Or10a49	A	G	7: 108,468,257 (GRCm39)	Y35H	probably benign	Het
Or10al2	T	A	17: 37,983,340 (GRCm39)	M142K	possibly damaging	Het
Or2t46	T	A	11: 58,472,024 (GRCm39)	L118H	possibly damaging	Het
Or56a5	T	C	7: 104,792,966 (GRCm39)	N178S	probably damaging	Het
Pdia4	A	T	6: 47,780,429 (GRCm39)	D301E	probably benign	Het
Phf2	C	A	13: 48,982,322 (GRCm39)	G134C	unknown	Het
Polr2h	T	A	16: 20,539,352 (GRCm39)	L76H	probably damaging	Het
Rbm47	G	A	5: 66,184,364 (GRCm39)	R80C	probably damaging	Het
Sfmbt1	T	C	14: 30,507,837 (GRCm39)	S286P	probably damaging	Het
Slc5a12	T	C	2: 110,447,179 (GRCm39)		probably benign	Het
Tacc2	T	C	7: 130,227,991 (GRCm39)	S1559P	probably benign	Het
Tbc1d16	T	G	11: 119,101,372 (GRCm39)	H46P	probably damaging	Het
Tbck	A	G	3: 132,440,475 (GRCm39)		probably benign	Het
Tmtc4	A	T	14: 123,163,374 (GRCm39)		probably null	Het
Ttc13	T	C	8: 125,417,100 (GRCm39)		probably null	Het
Ttc17	T	C	2: 94,193,130 (GRCm39)		probably benign	Het
Vmn1r121	T	A	7: 20,832,438 (GRCm39)	M1L	possibly damaging	Het
Vps13c	T	C	9: 67,860,258 (GRCm39)	S2825P	probably damaging	Het
Zan	A	C	5: 137,445,106 (GRCm39)	S1718A	unknown	Het
Zfp39	G	T	11: 58,793,626 (GRCm39)	Y37*	probably null	Het
Zfp407	T	C	18: 84,576,766 (GRCm39)	N1449S	probably damaging	Het
Zhx2	C	A	15: 57,687,035 (GRCm39)	D801E	possibly damaging	Het

Other mutations in Or51l4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00896:Or51l4	APN	7	103,404,213 (GRCm39)	missense	probably damaging	1.00
IGL01111:Or51l4	APN	7	103,404,580 (GRCm39)	missense	probably benign	0.07
IGL03173:Or51l4	APN	7	103,404,183 (GRCm39)	missense	probably benign	0.00
R1104:Or51l4	UTSW	7	103,404,183 (GRCm39)	missense	probably benign	0.00
R1507:Or51l4	UTSW	7	103,404,228 (GRCm39)	missense	probably benign	0.00
R1695:Or51l4	UTSW	7	103,404,131 (GRCm39)	nonsense	probably null
R1966:Or51l4	UTSW	7	103,404,375 (GRCm39)	missense	probably damaging	1.00
R1971:Or51l4	UTSW	7	103,404,527 (GRCm39)	nonsense	probably null
R2696:Or51l4	UTSW	7	103,404,735 (GRCm39)	missense	probably damaging	0.96
R4943:Or51l4	UTSW	7	103,404,503 (GRCm39)	missense	probably benign	0.12
R5622:Or51l4	UTSW	7	103,404,376 (GRCm39)	missense	probably damaging	0.99
R6365:Or51l4	UTSW	7	103,404,402 (GRCm39)	missense	probably benign	0.00
R7592:Or51l4	UTSW	7	103,404,279 (GRCm39)	missense	probably damaging	1.00
R8146:Or51l4	UTSW	7	103,404,510 (GRCm39)	missense	probably damaging	1.00
R8283:Or51l4	UTSW	7	103,404,019 (GRCm39)	missense	possibly damaging	0.51
R8867:Or51l4	UTSW	7	103,403,893 (GRCm39)	nonsense	probably null
R8875:Or51l4	UTSW	7	103,404,462 (GRCm39)	missense	probably damaging	1.00
R9658:Or51l4	UTSW	7	103,404,028 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16