Mutagenetix > Incidental Mutation

Incidental Mutation 'R4943:Or4e2'

383296

Institutional Source

Beutler Lab

Gene Symbol

Or4e2

Ensembl Gene

ENSMUSG00000035626

Gene Name

olfactory receptor family 4 subfamily E member 2

Synonyms

MOR83, Olfr1509, MOR244-3, GA_x6K02T2RJGY-534312-533386

MMRRC Submission

042540-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.338) question?

Stock #

R4943 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52687850-52688859 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to G at 52688051 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 60 (Y60*)

Ref Sequence

ENSEMBL: ENSMUSP00000150016 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045066] [ENSMUST00000205900] [ENSMUST00000206100] [ENSMUST00000206437] [ENSMUST00000206718] [ENSMUST00000215030]

AlphaFold

Q7TQQ0

Predicted Effect

probably null
Transcript: ENSMUST00000045066
AA Change: Y60*

SMART Domains

Protein: ENSMUSP00000046688
Gene: ENSMUSG00000035626
AA Change: Y60*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	1.3e-50	PFAM
Pfam:7TM_GPCR_Srsx	35	301	3.3e-6	PFAM
Pfam:7tm_1	41	287	6.8e-19	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000205900
AA Change: Y60*

Predicted Effect

probably null
Transcript: ENSMUST00000206100
AA Change: Y60*

Predicted Effect

probably null
Transcript: ENSMUST00000206437
AA Change: Y60*

Predicted Effect

probably null
Transcript: ENSMUST00000206718
AA Change: Y60*

Predicted Effect

probably null
Transcript: ENSMUST00000215030
AA Change: Y60*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

99% (81/82)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	A	13: 77,393,446 (GRCm39)	T366K	possibly damaging	Het
2510039O18Rik	T	A	4: 148,029,555 (GRCm39)	H508Q	probably damaging	Het
Aadacl4fm5	T	A	4: 144,504,290 (GRCm39)	E287V	probably benign	Het
Actl9	G	A	17: 33,652,059 (GRCm39)	V40M	possibly damaging	Het
Aen	T	A	7: 78,552,109 (GRCm39)	V23E	probably damaging	Het
Agbl1	G	A	7: 76,069,764 (GRCm39)	R432K	probably benign	Het
Akap13	T	A	7: 75,398,988 (GRCm39)	F2689I	probably benign	Het
Arhgap45	A	G	10: 79,862,337 (GRCm39)	S475G	probably benign	Het
Atg7	A	C	6: 114,674,045 (GRCm39)	Q231P	probably benign	Het
Calr3	A	T	8: 73,185,221 (GRCm39)	V226D	probably benign	Het
Cldn10	G	A	14: 119,025,725 (GRCm39)	G53S	possibly damaging	Het
Cops4	A	T	5: 100,695,292 (GRCm39)	M404L	probably benign	Het
Cpne4	A	T	9: 104,896,972 (GRCm39)	H375L	probably damaging	Het
D16Ertd472e	A	T	16: 78,372,877 (GRCm39)	V20D	probably damaging	Het
Dcun1d5	T	C	9: 7,186,844 (GRCm39)	F55L	possibly damaging	Het
Dhx8	T	A	11: 101,628,526 (GRCm39)	L93*	probably null	Het
Dtx4	A	G	19: 12,478,424 (GRCm39)	L53P	probably damaging	Het
Ern2	C	T	7: 121,772,481 (GRCm39)	R659H	possibly damaging	Het
Etl4	G	A	2: 20,812,092 (GRCm39)	A1392T	probably benign	Het
Fat2	T	C	11: 55,169,859 (GRCm39)	R2967G	probably benign	Het
Fat4	A	G	3: 39,034,322 (GRCm39)	D2658G	probably benign	Het
Ftsj3	A	G	11: 106,140,344 (GRCm39)	V808A	probably damaging	Het
Gm10447	A	T	11: 53,347,216 (GRCm39)	Y104*	probably null	Het
Gm27013	A	T	6: 130,653,163 (GRCm39)	C766*	probably null	Het
Gm5581	A	G	6: 131,144,088 (GRCm39)		noncoding transcript	Het
Gpr158	G	A	2: 21,831,968 (GRCm39)	V1023I	probably damaging	Het
Hectd2	T	G	19: 36,581,647 (GRCm39)		probably null	Het
Hmcn2	T	C	2: 31,225,504 (GRCm39)	Y138H	probably damaging	Het
Kif28	T	C	1: 179,541,516 (GRCm39)	I369V	probably benign	Het
Kif4-ps	C	T	12: 101,115,476 (GRCm39)		noncoding transcript	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Map3k20	G	A	2: 72,202,262 (GRCm39)	M164I	possibly damaging	Het
Map4k4	A	G	1: 40,058,754 (GRCm39)	I1050V	probably damaging	Het
Med23	T	A	10: 24,751,567 (GRCm39)	V133D	possibly damaging	Het
Mycn	A	T	12: 12,987,080 (GRCm39)	L439Q	probably damaging	Het
Myh2	G	T	11: 67,088,143 (GRCm39)	A1920S	probably damaging	Het
Myom3	T	C	4: 135,541,585 (GRCm39)	V1392A	possibly damaging	Het
Nktr	T	A	9: 121,549,020 (GRCm39)		probably benign	Het
Nme3	A	G	17: 25,115,697 (GRCm39)	K48E	probably damaging	Het
Nt5dc1	T	C	10: 34,186,387 (GRCm39)	R58G	probably damaging	Het
Nup205	A	G	6: 35,201,574 (GRCm39)	E1270G	probably damaging	Het
Or12d16-ps1	G	T	17: 37,705,916 (GRCm39)	A162S	probably benign	Het
Or51l4	A	T	7: 103,404,503 (GRCm39)	F96L	probably benign	Het
Or8c20	C	T	9: 38,260,924 (GRCm39)	H176Y	probably damaging	Het
Pclo	T	C	5: 14,762,651 (GRCm39)	L3708P	unknown	Het
Pde4dip	A	T	3: 97,662,827 (GRCm39)	N590K	probably damaging	Het
Prokr1	A	C	6: 87,558,806 (GRCm39)	I193S	possibly damaging	Het
Pxdc1	C	A	13: 34,822,989 (GRCm39)		probably null	Het
Rapgef2	A	T	3: 78,971,854 (GRCm39)	S1494T	probably benign	Het
Rbms3	G	C	9: 116,507,573 (GRCm39)		probably benign	Het
Reep3	T	A	10: 66,932,042 (GRCm39)		probably benign	Het
Rwdd2b	T	C	16: 87,231,422 (GRCm39)	K244R	possibly damaging	Het
Srrm2	T	C	17: 24,041,389 (GRCm39)	V2533A	possibly damaging	Het
Stab2	T	C	10: 86,790,026 (GRCm39)	Y580C	probably damaging	Het
Stac2	G	T	11: 97,932,398 (GRCm39)	S198R	probably benign	Het
Tdp2	T	A	13: 25,022,248 (GRCm39)	N222K	probably benign	Het
Tex21	A	G	12: 76,268,474 (GRCm39)	S103P	probably damaging	Het
Thbs1	A	T	2: 117,943,930 (GRCm39)	I183F	probably damaging	Het
Tm9sf1	T	C	14: 55,878,625 (GRCm39)	I256V	probably damaging	Het
Tmem207	C	T	16: 26,336,603 (GRCm39)	W50*	probably null	Het
Trpm2	C	A	10: 77,801,841 (GRCm39)	V75L	probably damaging	Het
Vmn1r227	A	T	17: 20,955,623 (GRCm39)		noncoding transcript	Het
Vmn2r13	C	A	5: 109,322,915 (GRCm39)	V125L	probably benign	Het
Vmn2r75	A	T	7: 85,814,705 (GRCm39)	S263T	probably damaging	Het
Wdr64	G	A	1: 175,547,882 (GRCm39)	V140I	probably benign	Het
Xpo4	T	C	14: 57,875,697 (GRCm39)	I145M	possibly damaging	Het
Zan	G	A	5: 137,456,152 (GRCm39)	T1336I	unknown	Het
Zdbf2	G	T	1: 63,342,073 (GRCm39)	V151F	possibly damaging	Het
Zfhx3	T	C	8: 109,674,949 (GRCm39)	S2000P	probably damaging	Het
Zfp65	T	A	13: 67,859,099 (GRCm39)	I12F	probably damaging	Het
Zfp703	C	A	8: 27,469,619 (GRCm39)	Q428K	probably benign	Het
Zfp947	A	C	17: 22,364,813 (GRCm39)	M287R	probably benign	Het
Zfp976	A	T	7: 42,261,846 (GRCm39)		probably benign	Het

Other mutations in Or4e2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Or4e2	APN	14	52,688,484 (GRCm39)	missense	probably benign	0.00
IGL01694:Or4e2	APN	14	52,688,041 (GRCm39)	missense	probably benign
IGL02656:Or4e2	APN	14	52,688,166 (GRCm39)	missense	possibly damaging	0.60
R0244:Or4e2	UTSW	14	52,687,969 (GRCm39)	missense	probably benign	0.00
R1249:Or4e2	UTSW	14	52,687,979 (GRCm39)	missense	probably benign
R1601:Or4e2	UTSW	14	52,687,899 (GRCm39)	missense	probably benign	0.00
R1717:Or4e2	UTSW	14	52,688,296 (GRCm39)	missense	probably benign	0.00
R1953:Or4e2	UTSW	14	52,688,344 (GRCm39)	missense	probably benign	0.00
R4689:Or4e2	UTSW	14	52,688,671 (GRCm39)	missense	probably benign
R6223:Or4e2	UTSW	14	52,688,136 (GRCm39)	missense	probably benign	0.00
R6516:Or4e2	UTSW	14	52,688,586 (GRCm39)	missense	probably damaging	1.00
R7323:Or4e2	UTSW	14	52,688,670 (GRCm39)	missense	probably benign	0.00
R7507:Or4e2	UTSW	14	52,687,930 (GRCm39)	missense	probably benign	0.00
R7674:Or4e2	UTSW	14	52,687,899 (GRCm39)	missense	probably benign	0.00
R9010:Or4e2	UTSW	14	52,688,556 (GRCm39)	missense	possibly damaging	0.82
R9505:Or4e2	UTSW	14	52,687,929 (GRCm39)	missense	probably benign
Z1088:Or4e2	UTSW	14	52,688,666 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGACTTCATCTCTGTATTACTCAGG -3'
(R):5'- CGCCATAATCGTCAGCAGAAAG -3'

Sequencing Primer
(F):5'- CATTAGATGGGAGCTCTAAATCAAAC -3'
(R):5'- TCGTCAGCAGAAAGATCTCAG -3'

Posted On

2016-04-27