Mutagenetix > Incidental Mutation

Incidental Mutation 'R9763:Or4e5'

735836

Institutional Source

Beutler Lab

Gene Symbol

Or4e5

Ensembl Gene

ENSMUSG00000059887

Gene Name

olfactory receptor family 4 subfamily E member 5

Synonyms

MOR28, MOR244-1, GA_x6K02T2RJGY-491851-492792, Olfr1507

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R9763 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52727392-52733152 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 52728307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 38 (Y38S)

Ref Sequence

ENSEMBL: ENSMUSP00000146152 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073571] [ENSMUST00000205963] [ENSMUST00000206062] [ENSMUST00000206069] [ENSMUST00000206931]

AlphaFold

Q0VEP0

Predicted Effect

probably damaging
Transcript: ENSMUST00000073571
AA Change: Y38S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073260
Gene: ENSMUSG00000059887
AA Change: Y38S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	308	1.1e-47	PFAM
Pfam:7TM_GPCR_Srsx	38	305	3.6e-9	PFAM
Pfam:7tm_1	44	290	9.1e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000205963
AA Change: Y11S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000206062
AA Change: Y38S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000206069

Predicted Effect

probably benign
Transcript: ENSMUST00000206931

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.5%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,302,717 (GRCm39)	D2167E	possibly damaging	Het
Acadsb	T	A	7: 131,045,327 (GRCm39)	Y420N	probably benign	Het
Adcy1	T	A	11: 7,014,126 (GRCm39)	L176Q	probably damaging	Het
Amdhd1	T	A	10: 93,367,398 (GRCm39)	K252M	possibly damaging	Het
Aspa	C	A	11: 73,213,094 (GRCm39)	E83*	probably null	Het
Atat1	A	G	17: 36,220,899 (GRCm39)	L10P	probably damaging	Het
Ccdc141	T	A	2: 76,869,919 (GRCm39)	N862I	probably damaging	Het
Cdkal1	A	T	13: 29,809,692 (GRCm39)	C217*	probably null	Het
Cttnbp2	C	T	6: 18,435,240 (GRCm39)	S206N	probably benign	Het
Dner	A	T	1: 84,361,656 (GRCm39)	I651N	possibly damaging	Het
Efcab3	G	A	11: 104,890,485 (GRCm39)	G4189E	possibly damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Ercc6l2	T	C	13: 63,982,438 (GRCm39)	V91A	probably damaging	Het
Gask1a	A	G	9: 121,805,421 (GRCm39)	D404G	probably damaging	Het
Gm13941	A	G	2: 110,931,518 (GRCm39)	L38S	unknown	Het
Golph3l	G	A	3: 95,517,085 (GRCm39)	E198K	possibly damaging	Het
Hecw2	A	C	1: 53,963,074 (GRCm39)	D812E	probably damaging	Het
Ikzf2	T	A	1: 69,587,835 (GRCm39)	E212V	possibly damaging	Het
Il6st	C	T	13: 112,627,051 (GRCm39)	S281F	probably damaging	Het
Kmt2d	CTGTTG	CTG	15: 98,743,057 (GRCm39)		probably benign	Het
Krt71	T	G	15: 101,646,757 (GRCm39)	K317T	probably damaging	Het
Lgi4	T	C	7: 30,760,020 (GRCm39)	F72S	probably damaging	Het
Map3k1	C	T	13: 111,912,499 (GRCm39)	R174H	probably damaging	Het
Marveld3	T	A	8: 110,688,375 (GRCm39)	H122L	probably benign	Het
Mrgprb2	A	G	7: 48,202,174 (GRCm39)	S184P	probably benign	Het
Mylk	G	T	16: 34,699,482 (GRCm39)	G282*	probably null	Het
Myo16	T	A	8: 10,450,528 (GRCm39)	M510K	unknown	Het
Naip5	C	G	13: 100,367,269 (GRCm39)	A276P	probably damaging	Het
Or10a3	T	A	7: 108,480,874 (GRCm39)		probably benign	Het
Or10a3n	T	G	7: 108,493,210 (GRCm39)	I140L	probably benign	Het
Or3a1d	T	C	11: 74,238,041 (GRCm39)	Y3C	probably damaging	Het
Or8j3	A	T	2: 86,028,181 (GRCm39)	M305K	probably benign	Het
Or9g20	T	G	2: 85,630,060 (GRCm39)	N185H	possibly damaging	Het
Pdzrn4	T	C	15: 92,668,376 (GRCm39)	Y843H	probably damaging	Het
Prkca	A	G	11: 107,903,867 (GRCm39)	V242A	possibly damaging	Het
Rbbp8	A	T	18: 11,865,261 (GRCm39)	M717L	probably benign	Het
Rnf150	T	C	8: 83,732,968 (GRCm39)	S272P	probably benign	Het
Rtraf	A	G	14: 19,866,314 (GRCm39)	V134A	probably damaging	Het
Rubcnl	T	A	14: 75,287,108 (GRCm39)	L592*	probably null	Het
Slc23a1	A	G	18: 35,755,364 (GRCm39)	S484P	probably damaging	Het
Slmap	A	G	14: 26,204,118 (GRCm39)	Y68H	probably damaging	Het
Speer4b	C	A	5: 27,705,206 (GRCm39)	V56L	probably damaging	Het
Sycp2l	T	A	13: 41,306,232 (GRCm39)	S84T		Het
Syne1	T	C	10: 5,007,858 (GRCm39)	D122G	probably benign	Het
Timd2	G	T	11: 46,573,540 (GRCm39)	P155T	probably benign	Het
Topbp1	G	A	9: 103,223,923 (GRCm39)	R1401Q	probably benign	Het
Trim36	C	A	18: 46,309,125 (GRCm39)	D312Y	probably benign	Het
Vps13c	A	G	9: 67,818,860 (GRCm39)	T1094A	probably benign	Het
Vwa8	T	A	14: 79,186,988 (GRCm39)	Y465N	probably damaging	Het
Zfpm1	T	C	8: 123,062,531 (GRCm39)	L530P	probably damaging	Het
Zmynd10	A	T	9: 107,425,965 (GRCm39)	T100S	probably benign	Het

Other mutations in Or4e5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01336:Or4e5	APN	14	52,728,205 (GRCm39)	missense	probably damaging	1.00
IGL01367:Or4e5	APN	14	52,727,624 (GRCm39)	missense	probably benign	0.42
IGL01664:Or4e5	APN	14	52,728,002 (GRCm39)	missense	probably benign	0.01
IGL02890:Or4e5	APN	14	52,728,368 (GRCm39)	missense	probably benign
IGL03108:Or4e5	APN	14	52,727,533 (GRCm39)	missense	probably damaging	0.97
IGL03184:Or4e5	APN	14	52,728,380 (GRCm39)	missense	probably benign	0.20
R0563:Or4e5	UTSW	14	52,727,714 (GRCm39)	nonsense	probably null
R1080:Or4e5	UTSW	14	52,728,042 (GRCm39)	nonsense	probably null
R1558:Or4e5	UTSW	14	52,727,603 (GRCm39)	missense	probably benign	0.26
R1653:Or4e5	UTSW	14	52,728,229 (GRCm39)	missense	probably damaging	1.00
R1714:Or4e5	UTSW	14	52,727,871 (GRCm39)	splice site	probably null
R1720:Or4e5	UTSW	14	52,728,051 (GRCm39)	nonsense	probably null
R3430:Or4e5	UTSW	14	52,727,882 (GRCm39)	missense	possibly damaging	0.92
R4995:Or4e5	UTSW	14	52,727,988 (GRCm39)	nonsense	probably null
R5954:Or4e5	UTSW	14	52,727,624 (GRCm39)	missense	probably benign	0.42
R6183:Or4e5	UTSW	14	52,728,188 (GRCm39)	missense	probably benign	0.05
R6518:Or4e5	UTSW	14	52,728,077 (GRCm39)	missense	probably damaging	1.00
R6651:Or4e5	UTSW	14	52,728,250 (GRCm39)	missense	probably benign	0.07
R6652:Or4e5	UTSW	14	52,728,250 (GRCm39)	missense	probably benign	0.07
R6653:Or4e5	UTSW	14	52,728,250 (GRCm39)	missense	probably benign	0.07
R7385:Or4e5	UTSW	14	52,727,638 (GRCm39)	missense	probably damaging	1.00
R7524:Or4e5	UTSW	14	52,727,750 (GRCm39)	missense	probably damaging	1.00
R8902:Or4e5	UTSW	14	52,728,010 (GRCm39)	missense	probably benign	0.02
R9165:Or4e5	UTSW	14	52,727,830 (GRCm39)	missense	possibly damaging	0.71
X0025:Or4e5	UTSW	14	52,727,923 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGGACCACACAGTCATCAAAGG -3'
(R):5'- CTAGATGTAGGTGTCATCGTAAACG -3'

Sequencing Primer
(F):5'- GAAATGAGCTTTTCTTCTGAGAAGG -3'
(R):5'- GAAAAGGCTGTCCTCATC -3'

Posted On

2022-11-14