Mutagenetix > Incidental Mutation

Incidental Mutation 'R9505:Or4e2'

717798

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.393) question?

Stock #

R9505 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52687850-52688859 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52687929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 20 (N20D)

Ref Sequence

ENSEMBL: ENSMUSP00000145819 (fasta)

Gene Model

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

AlphaFold

Q7TQQ0

Predicted Effect

probably benign
Transcript: ENSMUST00000045066
AA Change: N20D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000046688
Gene: ENSMUSG00000035626
AA Change: N20D

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 benign
Transcript: ENSMUST00000205900
AA Change: N20D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000206100
AA Change: N20D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000206437
AA Change: N20D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000206718
AA Change: N20D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000215030
AA Change: N20D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	G	19: 57,185,782 (GRCm39)		probably benign	Het
Adamts17	A	C	7: 66,774,683 (GRCm39)	N961T	probably benign	Het
Adamts3	G	A	5: 89,855,751 (GRCm39)	T373I	probably damaging	Het
Bcan	G	A	3: 87,900,748 (GRCm39)	P495L	probably benign	Het
Bicd1	A	C	6: 149,385,522 (GRCm39)	E85A	probably benign	Het
Brca1	G	T	11: 101,403,592 (GRCm39)	H1437N	probably benign	Het
Camk2n1	T	C	4: 138,182,567 (GRCm39)	I24T	possibly damaging	Het
Ces2f	T	A	8: 105,676,669 (GRCm39)	M121K	probably benign	Het
Cfap299	A	G	5: 98,477,213 (GRCm39)	M1V	probably null	Het
CN725425	T	A	15: 91,124,867 (GRCm39)	Y136N	possibly damaging	Het
Ctla2a	T	A	13: 61,084,342 (GRCm39)	M2L	unknown	Het
Cyp3a57	A	T	5: 145,286,139 (GRCm39)	Y25F	probably benign	Het
Dicer1	C	T	12: 104,697,297 (GRCm39)	V87M	possibly damaging	Het
Dnah3	A	T	7: 119,644,912 (GRCm39)	I1123N	probably damaging	Het
Fcgbpl1	A	T	7: 27,841,909 (GRCm39)	K615*	probably null	Het
Fkbp10	G	T	11: 100,306,826 (GRCm39)	E73*	probably null	Het
Flnb	C	A	14: 7,904,665 (GRCm38)	H1023N	probably benign	Het
Gapvd1	T	A	2: 34,613,026 (GRCm39)	Q312H		Het
Garre1	A	T	7: 33,984,371 (GRCm39)	L84Q	probably damaging	Het
Htr1d	A	T	4: 136,170,889 (GRCm39)	I373F	probably benign	Het
Inhba	G	A	13: 16,201,356 (GRCm39)	R306H	probably damaging	Het
Inka1	T	A	9: 107,862,092 (GRCm39)	K75*	probably null	Het
Iqcg	A	T	16: 32,861,247 (GRCm39)	D156E	probably benign	Het
Ireb2	C	A	9: 54,813,921 (GRCm39)	T798K	probably damaging	Het
Klk1b8	G	A	7: 43,451,605 (GRCm39)	A199T	probably damaging	Het
Lgi2	T	C	5: 52,711,775 (GRCm39)	T182A	probably benign	Het
Ltbp2	C	A	12: 84,900,638 (GRCm39)	R228L	probably damaging	Het
Lyrm1	A	G	7: 119,509,090 (GRCm39)	K22E	possibly damaging	Het
Mybbp1a	A	G	11: 72,339,897 (GRCm39)	D967G	probably benign	Het
Nr6a1	C	T	2: 38,630,485 (GRCm39)	R259Q	probably benign	Het
Or51aa5	T	C	7: 103,167,446 (GRCm39)	I48M	probably benign	Het
Or51i1	C	A	7: 103,670,698 (GRCm39)	V276F	probably damaging	Het
Pak5	A	T	2: 135,958,812 (GRCm39)	I92N	probably damaging	Het
Pcdhb5	T	A	18: 37,454,664 (GRCm39)	I348K	possibly damaging	Het
Phf2	C	T	13: 48,957,134 (GRCm39)	A1078T	probably damaging	Het
Rnf103	T	C	6: 71,487,049 (GRCm39)	V560A	probably benign	Het
Slc27a4	A	G	2: 29,701,608 (GRCm39)	I409V	probably benign	Het
Spata18	T	A	5: 73,809,017 (GRCm39)		probably null	Het
Spon1	A	G	7: 113,632,311 (GRCm39)	T545A	probably damaging	Het
Stab1	A	G	14: 30,877,722 (GRCm39)	S772P	probably damaging	Het
Stox2	A	T	8: 47,645,304 (GRCm39)	S719T	probably benign	Het
Syne1	A	G	10: 4,980,394 (GRCm39)	V864A	probably benign	Het
Syngap1	A	G	17: 27,180,579 (GRCm39)	S836G	probably benign	Het
Tiparp	G	T	3: 65,439,577 (GRCm39)	E298*	probably null	Het
Tmem52	A	G	4: 155,554,615 (GRCm39)	T114A	probably damaging	Het
Trim36	C	A	18: 46,329,281 (GRCm39)	C53F	probably damaging	Het
Ttn	T	C	2: 76,720,811 (GRCm39)	K6871R	unknown	Het
Ttn	C	A	2: 76,715,468 (GRCm39)		probably null	Het
Ube2d1	T	C	10: 71,098,094 (GRCm39)		probably null	Het
Unc13c	T	C	9: 73,838,824 (GRCm39)	T676A	probably benign	Het
Vinac1	A	T	2: 128,878,838 (GRCm39)	D1029E	unknown	Het
Vps13a	A	T	19: 16,719,908 (GRCm39)	Y417N	possibly damaging	Het
Zfp729a	C	T	13: 67,767,673 (GRCm39)	C852Y	probably damaging	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
R4943:Or4e2	UTSW	14	52,688,051 (GRCm39)	nonsense	probably null
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
Z1088:Or4e2	UTSW	14	52,688,666 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATATTCATGCCAAGCCTCAAAG -3'
(R):5'- GCTGTGCAATGCAATTGTCAAAG -3'

Sequencing Primer
(F):5'- GCCTCAAAGAAAAACAGTCATTTC -3'
(R):5'- TCAAGCATCTTGGGCACG -3'

Posted On

2022-07-18