Mutagenetix > Incidental Mutation

Incidental Mutation 'R0605:Or5ae2'

55647

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

MMRRC Submission

038794-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R0605 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84502779-84506526 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84506345 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 256 (I256T)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000078172
AA Change: I256T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077303
Gene: ENSMUSG00000070460
AA Change: I256T

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 damaging
Transcript: ENSMUST00000211582
AA Change: I258T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217039
AA Change: I256T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.4%

Validation Efficiency

100% (85/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406P04Rik	G	A	10: 20,186,973 (GRCm39)		probably benign	Het
Adam28	A	T	14: 68,844,049 (GRCm39)		probably benign	Het
Adamts3	A	G	5: 90,009,334 (GRCm39)	W110R	possibly damaging	Het
Add1	T	C	5: 34,771,568 (GRCm39)	V342A	possibly damaging	Het
Aff3	A	G	1: 38,249,068 (GRCm39)	S680P	probably damaging	Het
Ak9	T	C	10: 41,221,135 (GRCm39)	Y322H	probably damaging	Het
Als2	A	G	1: 59,207,573 (GRCm39)	L1528S	probably benign	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Atp6v1a	A	C	16: 43,931,859 (GRCm39)		probably null	Het
Bpi	T	C	2: 158,103,314 (GRCm39)	L103P	probably damaging	Het
Cd80	G	A	16: 38,303,056 (GRCm39)	V168I	probably benign	Het
Cfh	T	C	1: 140,030,096 (GRCm39)	S926G	probably damaging	Het
Chrd	A	T	16: 20,554,189 (GRCm39)	T304S	probably damaging	Het
Chsy3	A	G	18: 59,542,125 (GRCm39)	Y421C	probably damaging	Het
Cmbl	T	G	15: 31,585,455 (GRCm39)	V101G	probably damaging	Het
Colgalt2	T	A	1: 152,371,543 (GRCm39)		probably benign	Het
Coq4	C	T	2: 29,680,010 (GRCm39)	Q101*	probably null	Het
Cr2	T	C	1: 194,845,904 (GRCm39)		probably benign	Het
Cry1	T	C	10: 85,020,223 (GRCm39)	D38G	probably damaging	Het
Dmxl2	T	C	9: 54,327,229 (GRCm39)	D758G	probably benign	Het
Epsti1	C	T	14: 78,164,677 (GRCm39)		probably benign	Het
Fam24b	T	C	7: 130,928,915 (GRCm39)		probably benign	Het
Fem1c	G	A	18: 46,638,227 (GRCm39)	R592C	probably benign	Het
Foxred1	T	C	9: 35,116,178 (GRCm39)	Y490C	possibly damaging	Het
Gm9875	A	G	2: 13,562,699 (GRCm39)	K9R	unknown	Het
Grid2ip	T	C	5: 143,365,117 (GRCm39)	S322P	probably damaging	Het
Gucy1b2	A	G	14: 62,640,608 (GRCm39)		probably benign	Het
Hmcn1	A	T	1: 150,533,127 (GRCm39)		probably null	Het
Hpdl	C	T	4: 116,677,984 (GRCm39)	S159N	possibly damaging	Het
Hsd17b12	A	T	2: 93,863,987 (GRCm39)	M285K	probably benign	Het
Icam5	T	C	9: 20,943,493 (GRCm39)	I23T	probably benign	Het
Kat5	A	G	19: 5,658,364 (GRCm39)		probably benign	Het
Lama3	A	G	18: 12,640,006 (GRCm39)	N67S	probably benign	Het
Lamb2	T	C	9: 108,363,304 (GRCm39)		probably benign	Het
Lgals3bp	A	G	11: 118,284,220 (GRCm39)	F453S	probably damaging	Het
Lypd4	A	G	7: 24,564,800 (GRCm39)	Y113H	probably damaging	Het
Mdm1	C	T	10: 117,982,506 (GRCm39)	T47M	probably damaging	Het
Mei1	C	A	15: 81,954,351 (GRCm39)	T52K	probably benign	Het
Meiob	G	A	17: 25,037,236 (GRCm39)		probably benign	Het
Ndufaf6	A	G	4: 11,051,224 (GRCm39)	V292A	probably damaging	Het
Neb	T	A	2: 52,154,038 (GRCm39)	M2358L	possibly damaging	Het
Nlrp1b	A	G	11: 71,047,005 (GRCm39)	S1119P	possibly damaging	Het
Nsmaf	A	G	4: 6,418,470 (GRCm39)		probably null	Het
Ogfod1	T	C	8: 94,773,895 (GRCm39)		probably benign	Het
Or8h7	T	C	2: 86,720,763 (GRCm39)	Y252C	possibly damaging	Het
Or9s14	G	T	1: 92,535,618 (GRCm39)	V20L	probably benign	Het
Osbpl1a	T	A	18: 13,015,336 (GRCm39)		probably null	Het
Otud7b	T	A	3: 96,052,270 (GRCm39)		probably benign	Het
P3h3	T	A	6: 124,832,998 (GRCm39)	H185L	probably damaging	Het
P4htm	G	A	9: 108,460,923 (GRCm39)	A183V	probably null	Het
Peak1	C	T	9: 56,134,382 (GRCm39)		probably benign	Het
Phf20l1	A	G	15: 66,466,971 (GRCm39)	K88R	probably damaging	Het
Phlpp2	A	G	8: 110,659,843 (GRCm39)	N721S	probably benign	Het
Plagl2	T	C	2: 153,077,864 (GRCm39)	K39R	probably benign	Het
Plppr1	A	T	4: 49,323,466 (GRCm39)	N252I	probably damaging	Het
Pom121l2	C	T	13: 22,166,206 (GRCm39)	A159V	probably damaging	Het
Prom2	C	A	2: 127,381,915 (GRCm39)		probably null	Het
Prrc2c	T	C	1: 162,509,995 (GRCm39)	T1017A	probably damaging	Het
Rimbp3	G	T	16: 17,029,563 (GRCm39)	A996S	probably damaging	Het
Rnf213	A	G	11: 119,322,543 (GRCm39)	T1387A	probably benign	Het
Scaper	A	T	9: 55,722,802 (GRCm39)		probably benign	Het
Scara5	A	G	14: 65,997,097 (GRCm39)	E403G	possibly damaging	Het
Scrib	T	C	15: 75,939,402 (GRCm39)	I94V	possibly damaging	Het
Shank3	T	C	15: 89,408,350 (GRCm39)	F67L	possibly damaging	Het
Shprh	T	C	10: 11,082,856 (GRCm39)	F1562L	probably damaging	Het
Src	C	T	2: 157,311,841 (GRCm39)	T529M	probably damaging	Het
Sycp2l	T	A	13: 41,296,942 (GRCm39)	M341K	probably benign	Het
Syde1	T	C	10: 78,424,929 (GRCm39)		probably benign	Het
Tars3	A	T	7: 65,327,819 (GRCm39)	R509S	probably damaging	Het
Tle6	T	A	10: 81,430,180 (GRCm39)	H324L	probably damaging	Het
Tnfaip8	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	18: 50,179,912 (GRCm39)		probably benign	Het
Tnfrsf14	T	A	4: 155,009,837 (GRCm39)	K115*	probably null	Het
Trappc10	T	C	10: 78,037,331 (GRCm39)	N824S	possibly damaging	Het
Tsc1	C	T	2: 28,561,790 (GRCm39)	S309F	probably damaging	Het
Ttc21a	A	G	9: 119,790,908 (GRCm39)	I885V	possibly damaging	Het
Ttn	C	T	2: 76,570,797 (GRCm39)	A26699T	probably damaging	Het
Ttn	T	C	2: 76,778,715 (GRCm39)	Y1262C	unknown	Het
Usp49	T	C	17: 47,985,851 (GRCm39)		probably null	Het
Vmn1r226	A	T	17: 20,908,133 (GRCm39)	T122S	probably benign	Het
Vps8	A	T	16: 21,378,087 (GRCm39)	T1033S	probably benign	Het
Vwf	C	A	6: 125,662,800 (GRCm39)	T2728K	probably benign	Het
Wdr5b	T	C	16: 35,862,366 (GRCm39)	S162P	probably benign	Het
Xrn1	C	T	9: 95,908,930 (GRCm39)	Q1235*	probably null	Het
Zfp1005	A	G	2: 150,110,523 (GRCm39)	I404M	unknown	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
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
R4789:Or5ae2	UTSW	7	84,506,509 (GRCm39)	missense	probably benign	0.09
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'- CTGTCCCCAAGATGCTCAAGAATCTC -3'
(R):5'- TCATGCTGTCTGTGAACATATCCGAAG -3'

Sequencing Primer
(F):5'- CATTATGACCAAGGTTCGCTG -3'
(R):5'- TGTGAACATATCCGAAGATGTAAAAC -3'

Posted On

2013-07-11