Mutagenetix > Incidental Mutation

Incidental Mutation 'R5593:Or52e4'

437626

Institutional Source

Beutler Lab

Gene Symbol

Or52e4

Ensembl Gene

ENSMUSG00000073914

Gene Name

olfactory receptor family 52 subfamily E member 4

Synonyms

Olfr677, GA_x6K02T2PBJ9-7685262-7686200, MOR32-11

MMRRC Submission

043145-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

R5593 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104705455-104706393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104705711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 86 (I86T)

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: I86T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095764
Gene: ENSMUSG00000073914
AA Change: I86T

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: I86T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Meta Mutation Damage Score

0.5420

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (71/71)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	C	T	11: 3,888,027 (GRCm39)	V120I	unknown	Het
Anpep	T	G	7: 79,491,794 (GRCm39)	K69T	probably benign	Het
Appbp2	A	T	11: 85,085,409 (GRCm39)	I499K	possibly damaging	Het
Copb2	A	G	9: 98,469,091 (GRCm39)		probably null	Het
Cpa5	T	C	6: 30,630,848 (GRCm39)	I370T	probably benign	Het
Cpn2	T	C	16: 30,078,898 (GRCm39)	T268A	probably benign	Het
Ctbp2	C	A	7: 132,600,598 (GRCm39)	R99I	possibly damaging	Het
Cul1	G	A	6: 47,462,020 (GRCm39)	W196*	probably null	Het
Cul1	T	C	6: 47,491,925 (GRCm39)	F402L	probably damaging	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
Dyrk1a	C	A	16: 94,460,442 (GRCm39)	Q33K	possibly damaging	Het
Elapor2	T	A	5: 9,316,350 (GRCm39)	L27Q	probably benign	Het
Epg5	T	A	18: 78,000,689 (GRCm39)	S542T	probably damaging	Het
Eps8l3	A	T	3: 107,798,504 (GRCm39)		probably benign	Het
Evc2	A	G	5: 37,544,321 (GRCm39)	H690R	probably damaging	Het
Fam227a	G	A	15: 79,524,259 (GRCm39)		probably benign	Het
Gadl1	G	T	9: 115,835,718 (GRCm39)	G382V	probably damaging	Het
Gbf1	A	G	19: 46,260,963 (GRCm39)	Q1176R	possibly damaging	Het
Gdf9	A	T	11: 53,324,558 (GRCm39)	H109L	probably damaging	Het
Gsdmd	T	A	15: 75,738,856 (GRCm39)	V411D	probably damaging	Het
Hdc	T	C	2: 126,460,504 (GRCm39)		probably benign	Het
Ifrd2	A	G	9: 107,467,374 (GRCm39)	D82G	probably damaging	Het
Itpkb	T	C	1: 180,161,661 (GRCm39)	S596P	probably damaging	Het
Kcnmb3	A	G	3: 32,546,096 (GRCm39)	V8A	possibly damaging	Het
Lyst	T	G	13: 13,917,918 (GRCm39)	I3326S	probably damaging	Het
Mcm9	G	A	10: 53,414,393 (GRCm39)	T229I	probably damaging	Het
Medag	T	A	5: 149,350,415 (GRCm39)	F21L	probably benign	Het
Mefv	A	T	16: 3,533,315 (GRCm39)	C319S	probably benign	Het
Mettl23	T	A	11: 116,734,593 (GRCm39)	V54D	probably damaging	Het
Mul1	A	G	4: 138,166,543 (GRCm39)	D199G	probably damaging	Het
Ncor1	A	T	11: 62,260,130 (GRCm39)	I266N	probably damaging	Het
Nek10	A	T	14: 14,980,544 (GRCm38)	K967*	probably null	Het
Nrcam	A	G	12: 44,606,483 (GRCm39)	T410A	probably damaging	Het
Or1p1	A	G	11: 74,179,618 (GRCm39)	I49V	possibly damaging	Het
Or2b11	T	C	11: 59,461,874 (GRCm39)	R231G	possibly damaging	Het
Or52d13	C	T	7: 103,109,592 (GRCm39)		silent	Het
Pate2	A	T	9: 35,581,778 (GRCm39)	D24V	possibly damaging	Het
Plcb3	T	C	19: 6,932,117 (GRCm39)	I1124V	possibly damaging	Het
Ptprc	A	T	1: 138,045,458 (GRCm39)		probably benign	Het
Rab6a	T	C	7: 100,257,378 (GRCm39)		probably benign	Het
Rnf208	G	T	2: 25,133,345 (GRCm39)	W13L	possibly damaging	Het
Rps6kl1	G	T	12: 85,193,675 (GRCm39)	Q139K	possibly damaging	Het
Sdk1	T	A	5: 141,941,879 (GRCm39)	I509N	probably damaging	Het
Sephs1	A	G	2: 4,898,098 (GRCm39)	I170V	probably benign	Het
Slc17a8	C	T	10: 89,442,702 (GRCm39)	D44N	probably benign	Het
Slc23a1	T	A	18: 35,755,349 (GRCm39)	I489F	probably damaging	Het
Slc25a19	A	T	11: 115,507,418 (GRCm39)	Y235N	probably damaging	Het
Slc47a2	A	G	11: 61,233,486 (GRCm39)	V40A	probably benign	Het
Slurp2	C	T	15: 74,614,917 (GRCm39)	V75I	probably benign	Het
Smc1b	A	C	15: 85,005,842 (GRCm39)	M354R	probably benign	Het
Spice1	C	A	16: 44,191,115 (GRCm39)	A323E	possibly damaging	Het
Sptbn2	T	A	19: 4,798,975 (GRCm39)	V2015E	probably damaging	Het
Sptlc2	A	C	12: 87,415,857 (GRCm39)	F57V	probably benign	Het
Srsf1	A	G	11: 87,938,705 (GRCm39)	N14S	possibly damaging	Het
Ssh2	T	A	11: 77,312,192 (GRCm39)	D228E	probably damaging	Het
Synj2	A	G	17: 6,088,390 (GRCm39)	*1480W	probably null	Het
Syt14	A	T	1: 192,613,231 (GRCm39)	M523K	probably damaging	Het
Tff3	A	T	17: 31,348,516 (GRCm39)	V12E	probably benign	Het
Tgm2	C	A	2: 157,969,262 (GRCm39)	C371F	probably damaging	Het
Tmem260	A	C	14: 48,711,501 (GRCm39)	I197L	probably benign	Het
Unc5a	A	G	13: 55,152,747 (GRCm39)	D887G	possibly damaging	Het
Vstm4	G	T	14: 32,641,247 (GRCm39)	A277S	probably benign	Het
Wdtc1	A	T	4: 133,021,702 (GRCm39)		probably null	Het
Zan	A	G	5: 137,466,600 (GRCm39)	F419S	possibly damaging	Het
Zfp317	G	A	9: 19,558,584 (GRCm39)	R266Q	probably damaging	Het
Zfp931	T	A	2: 177,709,595 (GRCm39)	T264S	possibly damaging	Het
Zpld2	T	C	4: 133,920,350 (GRCm39)	K605R	probably damaging	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
IGL02358: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
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

Predicted Primers

PCR Primer
(F):5'- ATGGATTGCTTTCCCATTCTGT -3'
(R):5'- ACAAACGGAGTCACGAGAAT -3'

Sequencing Primer
(F):5'- GTCTTGTGTATCTGACTTCCCTTGTG -3'
(R):5'- CGGAGTCACGAGAATTAAATTTCTTC -3'

Posted On

2016-10-26