Mutagenetix > Incidental Mutation

Incidental Mutation 'R4789:Or5ae2'

367316

Institutional Source

Beutler Lab

Gene Symbol

Or5ae2

Ensembl Gene

ENSMUSG00000070460

Gene Name

olfactory receptor family 5 subfamily AE member 2

Synonyms

GA_x6K02T2NHDJ-11231385-11230438, Olfr291, MOR254-2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R4789 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84502779-84506526 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84506509 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 311 (C311S)

Ref Sequence

ENSEMBL: ENSMUSP00000150934 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000211582] [ENSMUST00000217039]

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000077303
Gene: ENSMUSG00000070460
AA Change: C311S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	3e-54	PFAM
Pfam:7TM_GPCR_Srsx	37	270	1.5e-10	PFAM
Pfam:7tm_1	43	293	1.9e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000211582
AA Change: C313S

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000217039
AA Change: C311S

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 98.8%
3x: 98.4%
10x: 96.9%
20x: 94.4%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004F10Rik	C	A	7: 115,692,757 (GRCm39)	D20E	probably benign	Het
Abcb9	T	A	5: 124,216,853 (GRCm39)	M455L	probably benign	Het
Add2	G	A	6: 86,095,752 (GRCm39)	V475M	probably benign	Het
Apoh	T	A	11: 108,300,064 (GRCm39)	Y238N	probably damaging	Het
Arpp21	A	G	9: 111,896,360 (GRCm39)	S681P	probably benign	Het
Atp1a3	A	C	7: 24,698,389 (GRCm39)	F149C	probably damaging	Het
B9d1	A	G	11: 61,397,186 (GRCm39)	D27G	probably benign	Het
Bfar	T	A	16: 13,503,001 (GRCm39)	M1K	probably null	Het
Bok	T	C	1: 93,616,963 (GRCm39)	V103A	probably damaging	Het
Brca1	A	C	11: 101,414,758 (GRCm39)	H1125Q	probably benign	Het
Card9	T	A	2: 26,247,632 (GRCm39)	M218L	probably damaging	Het
Cers1	T	C	8: 70,776,018 (GRCm39)	V303A	probably damaging	Het
Col6a5	T	C	9: 105,814,534 (GRCm39)	I493V	unknown	Het
Coro7	T	C	16: 4,446,085 (GRCm39)	Y880C	probably damaging	Het
Cyp2b19	T	C	7: 26,463,801 (GRCm39)	Y318H	probably benign	Het
Dennd3	T	A	15: 73,394,131 (GRCm39)	L52Q	probably damaging	Het
Dlat	A	T	9: 50,570,670 (GRCm39)	C33S	probably benign	Het
Dmxl2	T	A	9: 54,287,099 (GRCm39)	Q2646L	probably benign	Het
Dnah3	T	C	7: 119,610,295 (GRCm39)	N1703D	probably damaging	Het
Dock10	T	A	1: 80,518,998 (GRCm39)	H1241L	probably damaging	Het
Fbxl17	T	G	17: 63,794,910 (GRCm39)	I391L	probably benign	Het
Fdxacb1	A	G	9: 50,681,418 (GRCm39)	D113G	possibly damaging	Het
Flii	A	G	11: 60,605,919 (GRCm39)	S1185P	probably benign	Het
Gm14496	A	T	2: 181,637,577 (GRCm39)	Q217L	possibly damaging	Het
Heatr9	A	T	11: 83,410,018 (GRCm39)	D74E	probably benign	Het
Heca	C	A	10: 17,783,895 (GRCm39)	E91*	probably null	Het
Ikzf4	T	G	10: 128,468,575 (GRCm39)	T635P	probably benign	Het
Kif17	C	T	4: 138,008,688 (GRCm39)	P382S	probably damaging	Het
Kmt5b	T	C	19: 3,865,330 (GRCm39)	V775A	probably benign	Het
Mapk8ip2	T	A	15: 89,343,241 (GRCm39)	F661Y	probably damaging	Het
Mapkap1	A	G	2: 34,423,859 (GRCm39)	E111G	possibly damaging	Het
Med9	T	A	11: 59,839,266 (GRCm39)	N58K	probably benign	Het
Mid2	T	A	X: 139,578,981 (GRCm39)	Y61N	probably damaging	Het
Mief1	T	A	15: 80,132,080 (GRCm39)	Y50*	probably null	Het
Mios	T	C	6: 8,235,429 (GRCm39)	M859T	probably benign	Het
Muc5ac	G	T	7: 141,352,619 (GRCm39)	C702F	possibly damaging	Het
Nkiras1	T	C	14: 18,276,935 (GRCm38)		probably benign	Het
Or11i1	A	C	3: 106,729,608 (GRCm39)	I89R	possibly damaging	Het
Or11i1	T	A	3: 106,729,624 (GRCm39)	M84L	possibly damaging	Het
Or56a3b	T	G	7: 104,771,520 (GRCm39)	H285Q	probably null	Het
Pcsk5	C	T	19: 17,410,963 (GRCm39)	V1810M	probably benign	Het
Pex1	T	C	5: 3,680,270 (GRCm39)	V964A	probably damaging	Het
Pgm2l1	A	T	7: 99,916,794 (GRCm39)	M471L	probably benign	Het
Pkd1l2	T	C	8: 117,738,314 (GRCm39)	T2182A	probably damaging	Het
Plscr1l1	G	A	9: 92,233,084 (GRCm39)	C69Y	probably damaging	Het
Polr1b	T	A	2: 128,951,257 (GRCm39)	I290K	probably benign	Het
Prkg1	T	A	19: 31,563,045 (GRCm39)	M119L	probably damaging	Het
Rbl1	A	G	2: 157,019,275 (GRCm39)	V490A	probably benign	Het
Shtn1	G	C	19: 59,039,305 (GRCm39)	R45G	probably damaging	Het
Slc10a6	T	A	5: 103,776,848 (GRCm39)	Y84F	probably benign	Het
Slc25a23	T	C	17: 57,366,597 (GRCm39)	D26G	probably damaging	Het
Slc41a2	T	C	10: 83,152,320 (GRCm39)	K52E	probably damaging	Het
Slc4a5	T	C	6: 83,247,951 (GRCm39)	F501L	probably benign	Het
Slfn5	T	A	11: 82,847,226 (GRCm39)	M37K	probably benign	Het
Sptbn1	A	C	11: 30,067,759 (GRCm39)	F1818L	probably benign	Het
Taf3	T	C	2: 9,956,770 (GRCm39)	T466A	probably damaging	Het
Thbs2	C	T	17: 14,891,750 (GRCm39)	G929D	probably damaging	Het
Tmc3	A	T	7: 83,271,746 (GRCm39)	D995V	probably damaging	Het
Tmem262	T	C	19: 6,130,452 (GRCm39)	F59L	possibly damaging	Het
Triobp	A	G	15: 78,875,228 (GRCm39)	D137G	probably damaging	Het
Tspear	T	C	10: 77,702,199 (GRCm39)	F211L	possibly damaging	Het
Ttn	A	T	2: 76,728,670 (GRCm39)		probably benign	Het
Ugt2b5	T	A	5: 87,287,550 (GRCm39)	M206L	probably benign	Het
Ush1g	A	T	11: 115,209,466 (GRCm39)	S243T	probably damaging	Het
Usp19	A	T	9: 108,370,433 (GRCm39)	T86S	possibly damaging	Het
Wdhd1	A	G	14: 47,506,149 (GRCm39)	V255A	probably benign	Het
Wdr11	G	A	7: 129,220,394 (GRCm39)	W594*	probably null	Het
Wnk3	T	A	X: 149,993,933 (GRCm39)	Y331*	probably null	Het
Zfp429	A	T	13: 67,538,523 (GRCm39)	I307K	probably benign	Het
Zkscan14	T	A	5: 145,132,444 (GRCm39)	K362N	probably damaging	Het

Other mutations in Or5ae2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01863:Or5ae2	APN	7	84,505,619 (GRCm39)	missense	probably damaging	1.00
IGL02643:Or5ae2	APN	7	84,506,239 (GRCm39)	missense	probably damaging	1.00
IGL02928:Or5ae2	APN	7	84,506,273 (GRCm39)	missense	probably benign	0.08
IGL03124:Or5ae2	APN	7	84,505,931 (GRCm39)	missense	probably damaging	0.99
R0129:Or5ae2	UTSW	7	84,506,196 (GRCm39)	missense	probably benign
R0605:Or5ae2	UTSW	7	84,506,345 (GRCm39)	missense	probably damaging	1.00
R1085:Or5ae2	UTSW	7	84,505,987 (GRCm39)	missense	probably benign	0.05
R1477:Or5ae2	UTSW	7	84,506,225 (GRCm39)	missense	probably damaging	1.00
R1834:Or5ae2	UTSW	7	84,505,690 (GRCm39)	missense	probably damaging	0.99
R1839:Or5ae2	UTSW	7	84,505,756 (GRCm39)	missense	probably damaging	1.00
R2036:Or5ae2	UTSW	7	84,505,566 (GRCm39)	start gained	probably benign
R4214:Or5ae2	UTSW	7	84,506,497 (GRCm39)	missense	probably benign
R4386:Or5ae2	UTSW	7	84,505,756 (GRCm39)	missense	probably damaging	1.00
R4679:Or5ae2	UTSW	7	84,506,112 (GRCm39)	nonsense	probably null
R4841:Or5ae2	UTSW	7	84,506,328 (GRCm39)	missense	probably damaging	1.00
R5011:Or5ae2	UTSW	7	84,505,646 (GRCm39)	missense	probably damaging	1.00
R5013:Or5ae2	UTSW	7	84,505,646 (GRCm39)	missense	probably damaging	1.00
R6127:Or5ae2	UTSW	7	84,506,410 (GRCm39)	missense	probably damaging	1.00
R7164:Or5ae2	UTSW	7	84,506,251 (GRCm39)	missense	possibly damaging	0.73
R7328:Or5ae2	UTSW	7	84,506,507 (GRCm39)	missense	probably benign	0.01
R8347:Or5ae2	UTSW	7	84,505,963 (GRCm39)	missense	probably damaging	0.99
R8434:Or5ae2	UTSW	7	84,506,497 (GRCm39)	missense	probably benign
R8882:Or5ae2	UTSW	7	84,505,681 (GRCm39)	missense	probably damaging	1.00
R9242:Or5ae2	UTSW	7	84,506,086 (GRCm39)	nonsense	probably null
R9640:Or5ae2	UTSW	7	84,506,114 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAAAGCTTTCTCCACATGTG -3'
(R):5'- CCTTTCAAGTAGAATGAATCGAGC -3'

Sequencing Primer
(F):5'- AAAGCTTTCTCCACATGTGCTTCC -3'
(R):5'- TGGATACACAGTTGATAACACAAAC -3'

Posted On

2015-12-29