Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02358:Or52e4'

290345

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or52e4

Ensembl Gene

ENSMUSG00000073914

Gene Name

olfactory receptor family 52 subfamily E member 4

Synonyms

Olfr677, GA_x6K02T2PBJ9-7685262-7686200, MOR32-11

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

IGL02358

Quality Score

Status

Chromosome

Chromosomal Location

104705455-104706393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 104706182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 243 (G243D)

Ref Sequence

ENSEMBL: ENSMUSP00000149888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098161] [ENSMUST00000213204]

AlphaFold

Q8VF06

Predicted Effect

probably damaging
Transcript: ENSMUST00000098161
AA Change: G243D

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095764
Gene: ENSMUSG00000073914
AA Change: G243D

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	7.6e-120	PFAM
Pfam:7TM_GPCR_Srsx	37	308	4.8e-6	PFAM
Pfam:7tm_1	43	293	1.3e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209491

Predicted Effect

probably damaging
Transcript: ENSMUST00000213204
AA Change: G243D

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	G	16: 56,474,418 (GRCm39)	T448A	possibly damaging	Het
Adamtsl1	T	A	4: 86,075,110 (GRCm39)		probably null	Het
Adgra3	A	G	5: 50,215,900 (GRCm39)	V73A	probably benign	Het
Adgre4	G	A	17: 56,150,209 (GRCm39)	R600Q	probably benign	Het
Aggf1	T	C	13: 95,489,358 (GRCm39)		probably benign	Het
Aktip	C	T	8: 91,853,520 (GRCm39)	V96I	possibly damaging	Het
Atm	A	G	9: 53,433,476 (GRCm39)	I258T	probably benign	Het
Baz1b	C	T	5: 135,273,160 (GRCm39)	T1428I	probably damaging	Het
C3ar1	A	T	6: 122,826,934 (GRCm39)	Y428N	probably damaging	Het
Cadps	A	G	14: 12,597,380 (GRCm38)	S437P	probably damaging	Het
Car4	C	T	11: 84,856,593 (GRCm39)	P294S	probably damaging	Het
Cenpq	A	G	17: 41,235,223 (GRCm39)	L213P	probably damaging	Het
Cept1	A	G	3: 106,446,504 (GRCm39)		probably null	Het
Cln6	A	G	9: 62,754,407 (GRCm39)	I150V	probably benign	Het
Cyb5r3	T	C	15: 83,045,136 (GRCm39)	T94A	probably benign	Het
Cyp2c67	A	G	19: 39,605,861 (GRCm39)	M345T	probably damaging	Het
Dapk2	T	A	9: 66,153,805 (GRCm39)	I187N	probably damaging	Het
Dkk2	A	G	3: 131,883,673 (GRCm39)	D191G	probably benign	Het
Dnah8	T	A	17: 30,986,785 (GRCm39)	F3145I	probably damaging	Het
Dock1	A	C	7: 134,710,548 (GRCm39)	D1190A	possibly damaging	Het
Ehhadh	T	A	16: 21,581,620 (GRCm39)	L457F	probably damaging	Het
Ercc6l2	T	C	13: 64,001,497 (GRCm39)	L552P	probably damaging	Het
Ghrhr	T	G	6: 55,361,138 (GRCm39)	I284S	probably damaging	Het
Gm10288	A	T	3: 146,544,954 (GRCm39)		noncoding transcript	Het
Gp6	T	G	7: 4,397,507 (GRCm39)	I19L	probably benign	Het
Gria4	G	A	9: 4,456,206 (GRCm39)	S698L	possibly damaging	Het
Ifng	A	T	10: 118,278,410 (GRCm39)	I53F	possibly damaging	Het
Kazn	A	C	4: 141,874,327 (GRCm39)		probably null	Het
Khk	A	T	5: 31,085,848 (GRCm39)	I136F	probably damaging	Het
Krtap9-3	T	A	11: 99,488,885 (GRCm39)		probably benign	Het
Lnx1	T	A	5: 74,788,027 (GRCm39)	N98Y	probably damaging	Het
Lsp1	T	C	7: 142,042,679 (GRCm39)		probably null	Het
Lta4h	A	T	10: 93,314,329 (GRCm39)	N467I	probably benign	Het
Mcmbp	C	A	7: 128,311,505 (GRCm39)		probably null	Het
Me2	A	T	18: 73,931,038 (GRCm39)	I85K	probably benign	Het
Muc4	C	T	16: 32,569,804 (GRCm39)	T288I	possibly damaging	Het
Nadsyn1	A	T	7: 143,353,649 (GRCm39)	Y525N	probably damaging	Het
Nt5e	G	A	9: 88,209,946 (GRCm39)	V70M	probably damaging	Het
Or8b36	A	T	9: 37,937,332 (GRCm39)	I77L	possibly damaging	Het
Or9k7	T	G	10: 130,046,603 (GRCm39)	Y132S	probably damaging	Het
Pkd1l3	A	G	8: 110,373,129 (GRCm39)		probably benign	Het
Ppm1d	A	T	11: 85,236,541 (GRCm39)	E440V	probably damaging	Het
Pramel32	A	T	4: 88,546,127 (GRCm39)	I405N	probably damaging	Het
Ripor2	A	T	13: 24,915,572 (GRCm39)	E1047D	probably damaging	Het
Rwdd2b	G	A	16: 87,234,336 (GRCm39)	A18V	probably benign	Het
Serpina5	G	T	12: 104,068,384 (GRCm39)	K148N	probably damaging	Het
Setx	A	G	2: 29,036,976 (GRCm39)	K1154E	probably benign	Het
Spata31	T	A	13: 65,069,032 (GRCm39)	N393K	probably benign	Het
Spcs2	T	C	7: 99,498,241 (GRCm39)	K81R	probably damaging	Het
Stt3b	T	A	9: 115,079,975 (GRCm39)	M646L	possibly damaging	Het
Suco	T	C	1: 161,646,195 (GRCm39)	T1169A	probably benign	Het
Susd1	A	T	4: 59,427,985 (GRCm39)	Y66*	probably null	Het
Trim34a	T	A	7: 103,910,441 (GRCm39)	C414*	probably null	Het
Trim58	G	A	11: 58,542,176 (GRCm39)	G379S	probably damaging	Het
Vmn2r50	T	A	7: 9,787,002 (GRCm39)	Q35L	probably benign	Het
Zc3hc1	C	A	6: 30,376,057 (GRCm39)	G168W	probably benign	Het
Zfp418	T	C	7: 7,177,690 (GRCm39)		probably benign	Het
Zfp57	G	A	17: 37,320,919 (GRCm39)	V258I	probably benign	Het
Zng1	A	T	19: 24,909,026 (GRCm39)		probably null	Het

Other mutations in Or52e4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02111:Or52e4	APN	7	104,706,152 (GRCm39)	missense	probably benign	0.10
IGL02351:Or52e4	APN	7	104,706,182 (GRCm39)	missense	probably damaging	0.98
IGL02696:Or52e4	APN	7	104,705,569 (GRCm39)	missense	probably benign	0.39
R0089:Or52e4	UTSW	7	104,706,297 (GRCm39)	nonsense	probably null
R0963:Or52e4	UTSW	7	104,706,179 (GRCm39)	missense	probably damaging	0.98
R1157:Or52e4	UTSW	7	104,706,091 (GRCm39)	missense	probably benign	0.01
R1719:Or52e4	UTSW	7	104,706,001 (GRCm39)	missense	probably damaging	0.97
R1998:Or52e4	UTSW	7	104,706,112 (GRCm39)	missense	probably benign	0.05
R2039:Or52e4	UTSW	7	104,705,597 (GRCm39)	missense	possibly damaging	0.75
R2180:Or52e4	UTSW	7	104,706,092 (GRCm39)	missense	probably benign	0.18
R2568:Or52e4	UTSW	7	104,705,878 (GRCm39)	missense	probably benign	0.00
R4700:Or52e4	UTSW	7	104,705,483 (GRCm39)	missense	possibly damaging	0.81
R4701:Or52e4	UTSW	7	104,706,086 (GRCm39)	missense	probably damaging	1.00
R4803:Or52e4	UTSW	7	104,705,863 (GRCm39)	missense	probably benign	0.39
R4888:Or52e4	UTSW	7	104,705,689 (GRCm39)	missense	possibly damaging	0.95
R5121:Or52e4	UTSW	7	104,705,689 (GRCm39)	missense	possibly damaging	0.95
R5190:Or52e4	UTSW	7	104,705,660 (GRCm39)	missense	probably damaging	0.96
R5593:Or52e4	UTSW	7	104,705,711 (GRCm39)	missense	probably damaging	1.00
R6831:Or52e4	UTSW	7	104,706,086 (GRCm39)	missense	possibly damaging	0.95
R6991:Or52e4	UTSW	7	104,705,771 (GRCm39)	missense	probably damaging	1.00
R7387:Or52e4	UTSW	7	104,706,297 (GRCm39)	nonsense	probably null
R7812:Or52e4	UTSW	7	104,705,894 (GRCm39)	missense	possibly damaging	0.59
R7984:Or52e4	UTSW	7	104,705,639 (GRCm39)	missense	probably damaging	0.98
R8199:Or52e4	UTSW	7	104,705,852 (GRCm39)	missense	probably damaging	0.99
R9532:Or52e4	UTSW	7	104,706,275 (GRCm39)	missense	probably damaging	1.00
R9563:Or52e4	UTSW	7	104,706,281 (GRCm39)	missense	possibly damaging	0.80
R9646:Or52e4	UTSW	7	104,706,374 (GRCm39)	missense	probably benign	0.02

Posted On

2015-04-16