Mutagenetix > Incidental Mutation

Incidental Mutation 'R5059:Or52ae7'

386515

Institutional Source

Beutler Lab

Gene Symbol

Or52ae7

Ensembl Gene

ENSMUSG00000073948

Gene Name

olfactory receptor family 52 subfamily AE member 7

Synonyms

MOR26-3, GA_x6K02T2PBJ9-6191595-6192545, Olfr608

MMRRC Submission

042649-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R5059 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103119248-103120198 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 103119488 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 81 (K81*)

Ref Sequence

ENSEMBL: ENSMUSP00000150595 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000213546]

AlphaFold

E9Q564

Predicted Effect

probably null
Transcript: ENSMUST00000098199
AA Change: K81*

SMART Domains

Protein: ENSMUSP00000095801
Gene: ENSMUSG00000073948
AA Change: K81*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	311	4.7e-101	PFAM
Pfam:7TM_GPCR_Srsx	36	308	7.1e-8	PFAM
Pfam:7tm_1	42	293	6.4e-16	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000213546
AA Change: K81*

Meta Mutation Damage Score

0.9660

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

98% (52/53)

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
Adam26b	T	A	8: 43,973,637 (GRCm39)	N455I	probably damaging	Het
Alg12	A	G	15: 88,695,659 (GRCm39)	F279S	probably damaging	Het
Angpt4	A	G	2: 151,776,360 (GRCm39)	D296G	probably damaging	Het
Ank1	T	A	8: 23,586,204 (GRCm39)	S437T	probably damaging	Het
Apol7a	G	A	15: 77,274,012 (GRCm39)		probably benign	Het
Arhgef38	T	A	3: 132,843,175 (GRCm39)	Y465F	probably damaging	Het
Atp8a2	T	G	14: 59,928,986 (GRCm39)	T1023P	probably benign	Het
Cdh20	C	A	1: 109,993,430 (GRCm39)	A295E	probably damaging	Het
Cela3b	T	C	4: 137,152,181 (GRCm39)	E92G	probably benign	Het
Cntnap5a	T	C	1: 116,356,224 (GRCm39)	S752P	probably benign	Het
Dlx2	T	C	2: 71,376,585 (GRCm39)	H51R	probably damaging	Het
Dnm2	T	C	9: 21,415,874 (GRCm39)	I736T	probably damaging	Het
Dst	A	G	1: 34,202,427 (GRCm39)	T252A	possibly damaging	Het
Fbxo40	T	C	16: 36,790,658 (GRCm39)	R151G	possibly damaging	Het
Gapdhs	C	T	7: 30,431,410 (GRCm39)	A357T	probably benign	Het
Gon4l	T	A	3: 88,807,319 (GRCm39)	M1671K	probably benign	Het
Gpi1	T	C	7: 33,907,113 (GRCm39)	Y327C	probably damaging	Het
Gucy2g	T	C	19: 55,214,503 (GRCm39)	R542G	probably benign	Het
Hectd3	A	G	4: 116,854,361 (GRCm39)	K308E	possibly damaging	Het
Hip1	A	G	5: 135,478,675 (GRCm39)	F178S	probably damaging	Het
Hydin	A	G	8: 111,232,401 (GRCm39)	D1640G	probably damaging	Het
Il18r1	G	A	1: 40,520,227 (GRCm39)		probably null	Het
Kdm3b	T	C	18: 34,910,250 (GRCm39)	S23P	possibly damaging	Het
Lactb	T	C	9: 66,882,426 (GRCm39)	E83G	probably benign	Het
Larp4	A	T	15: 99,903,171 (GRCm39)	D414V	probably damaging	Het
Map2k5	T	C	9: 63,164,296 (GRCm39)	H336R	probably benign	Het
Mast4	T	C	13: 102,887,071 (GRCm39)	E1006G	probably damaging	Het
Mbd5	T	C	2: 49,146,467 (GRCm39)	S226P	probably damaging	Het
Micall1	A	T	15: 79,007,034 (GRCm39)		probably benign	Het
Mtpap	T	A	18: 4,375,827 (GRCm39)		probably benign	Het
Or5p58	A	G	7: 107,694,522 (GRCm39)	L85P	probably damaging	Het
Pnrc1	G	A	4: 33,246,072 (GRCm39)	Q296*	probably null	Het
Poc1a	G	T	9: 106,227,012 (GRCm39)		probably benign	Het
Pramel28	A	G	4: 143,691,565 (GRCm39)	V386A	probably damaging	Het
Prkcsh	T	A	9: 21,924,046 (GRCm39)	L439Q	probably damaging	Het
Prkdc	T	C	16: 15,655,882 (GRCm39)	L3970P	probably damaging	Het
Ptcd1	G	A	5: 145,089,034 (GRCm39)	P542L	probably benign	Het
Rps6ka5	G	A	12: 100,520,634 (GRCm39)	T631I	probably damaging	Het
Rxfp1	T	C	3: 79,570,619 (GRCm39)	N271S	probably benign	Het
Taf6	A	G	5: 138,177,709 (GRCm39)	M541T	probably benign	Het
Tek	T	A	4: 94,692,551 (GRCm39)	C169S	probably benign	Het
Tgfbr3l	T	A	8: 4,299,343 (GRCm39)		probably null	Het
Trpv3	A	G	11: 73,186,149 (GRCm39)	N647D	probably benign	Het
Ube3c	A	G	5: 29,836,293 (GRCm39)	K638R	probably null	Het
Vmn1r191	G	A	13: 22,363,163 (GRCm39)	A197V	probably damaging	Het
Vmn2r6	T	C	3: 64,445,044 (GRCm39)	T894A	possibly damaging	Het
Vstm4	T	G	14: 32,585,687 (GRCm39)	Y85D	probably damaging	Het
Wnt7a	A	G	6: 91,371,482 (GRCm39)	I160T	probably benign	Het
Zc3h7a	TAGAGAG	TAGAGAGAG	16: 10,978,985 (GRCm39)		probably null	Het
Zfp988	A	T	4: 147,416,372 (GRCm39)	K269*	probably null	Het

Other mutations in Or52ae7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01735:Or52ae7	APN	7	103,119,530 (GRCm39)	missense	probably damaging	1.00
IGL02428:Or52ae7	APN	7	103,119,590 (GRCm39)	missense	probably benign	0.03
IGL02832:Or52ae7	APN	7	103,119,905 (GRCm39)	missense	probably benign	0.00
R0546:Or52ae7	UTSW	7	103,119,907 (GRCm39)	missense	possibly damaging	0.65
R1518:Or52ae7	UTSW	7	103,119,249 (GRCm39)	start codon destroyed	probably null	0.98
R1696:Or52ae7	UTSW	7	103,119,384 (GRCm39)	missense	probably benign	0.18
R1735:Or52ae7	UTSW	7	103,119,353 (GRCm39)	missense	possibly damaging	0.83
R2927:Or52ae7	UTSW	7	103,120,089 (GRCm39)	missense	probably damaging	1.00
R3856:Or52ae7	UTSW	7	103,119,867 (GRCm39)	missense	probably damaging	1.00
R4374:Or52ae7	UTSW	7	103,119,278 (GRCm39)	missense	probably damaging	0.97
R4375:Or52ae7	UTSW	7	103,119,278 (GRCm39)	missense	probably damaging	0.97
R4377:Or52ae7	UTSW	7	103,119,278 (GRCm39)	missense	probably damaging	0.97
R5174:Or52ae7	UTSW	7	103,119,610 (GRCm39)	missense	probably benign	0.14
R5579:Or52ae7	UTSW	7	103,120,121 (GRCm39)	missense	probably damaging	1.00
R6762:Or52ae7	UTSW	7	103,119,596 (GRCm39)	missense	probably benign	0.02
R7888:Or52ae7	UTSW	7	103,120,006 (GRCm39)	nonsense	probably null
R7980:Or52ae7	UTSW	7	103,119,504 (GRCm39)	missense	probably damaging	1.00
R8150:Or52ae7	UTSW	7	103,119,459 (GRCm39)	missense	probably damaging	1.00
R8966:Or52ae7	UTSW	7	103,119,524 (GRCm39)	missense	probably benign	0.07
R9369:Or52ae7	UTSW	7	103,119,555 (GRCm39)	missense	probably benign	0.14
R9683:Or52ae7	UTSW	7	103,119,157 (GRCm39)	start gained	probably benign
R9713:Or52ae7	UTSW	7	103,119,914 (GRCm39)	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- TCCTGGCTTCGAAAATTTTCAC -3'
(R):5'- TGGCAAAACCATCAGCAGAG -3'

Sequencing Primer
(F):5'- CTGGCTTCGAAAATTTTCACTACTTG -3'
(R):5'- CCAGCTTAATAACCATGGCTGTTGTG -3'

Posted On

2016-06-06