Mutagenetix > Incidental Mutation

Incidental Mutation 'R7328:Or5ae2'

569051

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

045421-MU

Accession Numbers

Essential gene?

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

Stock #

R7328 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84502779-84506526 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84506507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 312 (I312T)

Ref Sequence

ENSEMBL: ENSMUSP00000148266 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000211582
AA Change: I312T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000217039
AA Change: I310T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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
4933427D14Rik	C	G	11: 72,060,606 (GRCm39)		probably null	Het
Abca13	T	A	11: 9,241,545 (GRCm39)	V1136E	probably benign	Het
Arl4c	C	A	1: 88,629,239 (GRCm39)	E50*	probably null	Het
Atxn7l1	T	C	12: 33,198,502 (GRCm39)		probably null	Het
Ctdsp1	A	T	1: 74,433,199 (GRCm39)	I115F	probably damaging	Het
Cyp2j5	A	G	4: 96,551,450 (GRCm39)	V91A	probably damaging	Het
Dscam	T	A	16: 96,446,235 (GRCm39)	K1469*	probably null	Het
Elf2	A	G	3: 51,174,198 (GRCm39)	C110R	probably damaging	Het
Ephb1	A	G	9: 102,072,438 (GRCm39)	Y114H	probably damaging	Het
Ephb2	C	T	4: 136,386,245 (GRCm39)		probably null	Het
Fbxw20	C	A	9: 109,061,383 (GRCm39)	C122F	probably damaging	Het
Flnb	T	C	14: 7,883,788 (GRCm38)	I338T	possibly damaging	Het
Flnb	T	A	14: 7,894,660 (GRCm38)	Y819*	probably null	Het
Foxo3	A	T	10: 42,073,258 (GRCm39)	S420T	probably benign	Het
Herpud1	T	C	8: 95,113,248 (GRCm39)	V10A	possibly damaging	Het
Hmcn1	A	T	1: 150,514,617 (GRCm39)	V3585E	possibly damaging	Het
Hsdl1	T	C	8: 120,292,830 (GRCm39)	T202A	probably benign	Het
Htr1d	G	A	4: 136,170,614 (GRCm39)	S281N	probably benign	Het
Igkv14-111	T	A	6: 68,233,709 (GRCm39)	I70N	probably damaging	Het
Igkv8-34	A	G	6: 70,021,328 (GRCm39)	S45P	probably damaging	Het
Inha	T	C	1: 75,486,760 (GRCm39)	Y352H	probably damaging	Het
Lats1	A	T	10: 7,581,311 (GRCm39)	M699L	possibly damaging	Het
Marchf9	T	C	10: 126,894,165 (GRCm39)	E146G	probably damaging	Het
Mcm8	T	C	2: 132,674,777 (GRCm39)	V443A	probably benign	Het
Melk	A	T	4: 44,332,931 (GRCm39)	S296C	probably benign	Het
Myo18a	T	C	11: 77,698,737 (GRCm39)	S4P		Het
Myof	T	C	19: 37,904,847 (GRCm39)	Y1646C	probably damaging	Het
Noc4l	C	A	5: 110,796,789 (GRCm39)	A498S	possibly damaging	Het
Nrxn3	T	C	12: 88,762,345 (GRCm39)	S131P	probably benign	Het
Or5ak23	A	G	2: 85,244,668 (GRCm39)	I185T	probably benign	Het
Or5j3	GTACTTTTT	GT	2: 86,128,338 (GRCm39)		probably null	Het
Or8g23	T	C	9: 38,971,857 (GRCm39)	Y35C	probably damaging	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Phldb2	T	A	16: 45,578,572 (GRCm39)		probably null	Het
Polr2b	C	T	5: 77,463,846 (GRCm39)	P81L	probably damaging	Het
Rbfa	C	A	18: 80,236,454 (GRCm39)	G215C	probably benign	Het
Rdh19	T	C	10: 127,692,896 (GRCm39)	S188P	probably damaging	Het
Scn9a	T	C	2: 66,314,931 (GRCm39)	M1596V	probably benign	Het
Sele	A	T	1: 163,876,844 (GRCm39)	Y40F	probably benign	Het
Setd1b	T	A	5: 123,290,442 (GRCm39)	V803D	unknown	Het
Siglecf	C	T	7: 43,001,691 (GRCm39)	T167I	possibly damaging	Het
Slc39a6	T	C	18: 24,733,987 (GRCm39)	E234G	probably benign	Het
Slco1a1	T	A	6: 141,882,134 (GRCm39)	D145V	possibly damaging	Het
Son	G	A	16: 91,455,278 (GRCm39)	V1342I	probably benign	Het
Sybu	G	A	15: 44,651,190 (GRCm39)	P38L	not run	Het
Taf15	C	T	11: 83,375,658 (GRCm39)	T41M	possibly damaging	Het
Tm4sf4	A	T	3: 57,333,925 (GRCm39)	N71Y	probably benign	Het
Tm7sf2	C	T	19: 6,114,156 (GRCm39)	V226I	possibly damaging	Het
Trim66	C	A	7: 109,056,958 (GRCm39)	Q1066H	probably damaging	Het
Tyw1	T	C	5: 130,291,685 (GRCm39)	V51A	probably benign	Het
Vav3	A	T	3: 109,410,744 (GRCm39)	I192L	probably benign	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
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
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

2019-09-13