Mutagenetix > Incidental Mutation

Incidental Mutation 'R6651:Or4e5'

527806

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

044772-MU

Accession Numbers

Essential gene?

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

Stock #

R6651 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52727392-52733152 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 52728250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 57 (R57Q)

Ref Sequence

ENSEMBL: ENSMUSP00000146152 (fasta)

Gene Model

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

AlphaFold

Q0VEP0

Predicted Effect

probably benign
Transcript: ENSMUST00000073571
AA Change: R57Q

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000073260
Gene: ENSMUSG00000059887
AA Change: R57Q

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 benign
Transcript: ENSMUST00000205963
AA Change: R30Q

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000206062
AA Change: R57Q

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000206069

Predicted Effect

probably benign
Transcript: ENSMUST00000206931

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.7%

Validation Efficiency

98% (50/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	C	7: 43,147,496 (GRCm39)	S198A	possibly damaging	Het
Adamts15	A	T	9: 30,833,448 (GRCm39)	I29N	probably damaging	Het
Ankrd61	A	T	5: 143,830,438 (GRCm39)	I33N	probably damaging	Het
Arl6ip1	C	T	7: 117,728,708 (GRCm39)	R7H	probably benign	Het
Atp8a2	A	T	14: 60,011,470 (GRCm39)	D946E	probably benign	Het
Cc2d2b	A	T	19: 40,766,573 (GRCm39)	Q114L	probably damaging	Het
Ccdc163	T	A	4: 116,566,261 (GRCm39)	S16R	possibly damaging	Het
Chil6	C	T	3: 106,311,576 (GRCm39)	C68Y	probably damaging	Het
Cngb3	G	T	4: 19,375,231 (GRCm39)	R287L	probably benign	Het
Crem	C	T	18: 3,325,428 (GRCm39)	R16H	probably benign	Het
Cyp4f16	C	T	17: 32,763,118 (GRCm39)	R188C	probably benign	Het
Dap	A	G	15: 31,273,353 (GRCm39)	D46G	probably damaging	Het
Dnah7c	C	A	1: 46,688,500 (GRCm39)	T1890K	probably benign	Het
Dnah7c	A	G	1: 46,688,511 (GRCm39)	S1894G	probably benign	Het
Enam	T	C	5: 88,650,776 (GRCm39)	Y687H	probably damaging	Het
Fzd4	A	T	7: 89,054,010 (GRCm39)	D39V	possibly damaging	Het
Ggta1	G	T	2: 35,292,306 (GRCm39)	H334N	probably benign	Het
Golga3	C	T	5: 110,365,996 (GRCm39)	R1254*	probably null	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Helz2	C	T	2: 180,881,350 (GRCm39)	W377*	probably null	Het
Hfm1	T	C	5: 106,995,553 (GRCm39)	D1286G	probably benign	Het
Hhatl	T	C	9: 121,613,768 (GRCm39)	R425G	probably damaging	Het
Hivep3	G	A	4: 119,980,146 (GRCm39)	R1728H	probably damaging	Het
Hyal1	A	G	9: 107,456,570 (GRCm39)	Y419C	probably damaging	Het
Ighv8-12	A	T	12: 115,611,644 (GRCm39)	D84E	possibly damaging	Het
Itln1	A	G	1: 171,345,940 (GRCm39)	F271L	possibly damaging	Het
Klra7	C	A	6: 130,206,908 (GRCm39)	L64F	probably benign	Het
Kmt2a	A	T	9: 44,740,108 (GRCm39)	C1878*	probably null	Het
Mia2	C	A	12: 59,201,148 (GRCm39)	Q825K	possibly damaging	Het
Mmp12	C	A	9: 7,355,345 (GRCm39)	P294Q	possibly damaging	Het
Nedd4	A	G	9: 72,638,553 (GRCm39)	N480S	possibly damaging	Het
Or4c12b	A	T	2: 89,647,240 (GRCm39)	E190V	probably benign	Het
Pax6	T	A	2: 105,516,175 (GRCm39)	M151K	probably benign	Het
Pgm2	A	G	5: 64,269,437 (GRCm39)	Y508C	probably benign	Het
Ptpn20	T	C	14: 33,354,897 (GRCm39)	F324S	probably damaging	Het
Recql	A	G	6: 142,310,160 (GRCm39)		probably null	Het
Rerg	A	G	6: 137,033,384 (GRCm39)	V97A	probably damaging	Het
Rffl	C	A	11: 82,703,605 (GRCm39)	C106F	probably damaging	Het
Scaper	T	G	9: 55,765,788 (GRCm39)	N499T	probably benign	Het
Sfxn3	G	A	19: 45,038,354 (GRCm39)		probably null	Het
Slc36a4	A	G	9: 15,634,874 (GRCm39)	S139G	probably benign	Het
Slco2b1	T	A	7: 99,316,376 (GRCm39)	M385L	probably benign	Het
Smg8	T	C	11: 86,977,372 (GRCm39)	T70A	probably benign	Het
Spats2l	A	T	1: 57,985,336 (GRCm39)	K463M	probably damaging	Het
Thbs4	T	C	13: 92,893,044 (GRCm39)	I715V	probably benign	Het
Tmem234	T	A	4: 129,501,264 (GRCm39)	M113K	possibly damaging	Het
Vmn2r10	T	C	5: 109,143,488 (GRCm39)	I821V	probably null	Het
Vmn2r116	A	T	17: 23,607,805 (GRCm39)	K458*	probably null	Het
Vmn2r76	T	A	7: 85,878,059 (GRCm39)	N446I	possibly damaging	Het
Vmn2r95	T	A	17: 18,660,622 (GRCm39)	Y345N	probably damaging	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
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
R9763:Or4e5	UTSW	14	52,728,307 (GRCm39)	missense	probably damaging	1.00
X0025:Or4e5	UTSW	14	52,727,923 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCAAAGGTTTACAAATGGCCAC -3'
(R):5'- ATGGAAAAGGCTGTCCTCATC -3'

Sequencing Primer
(F):5'- GGTTTACAAATGGCCACATAGCGATC -3'
(R):5'- TCATCAACCAAACTTCAGTGATGTC -3'

Posted On

2018-07-23