Mutagenetix > Incidental Mutation

Incidental Mutation 'R1735:Or52ae7'

199631

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

039767-MU

Accession Numbers

Essential gene?

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

Stock #

R1735 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103119248-103120198 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103119353 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 36 (F36I)

Ref Sequence

ENSEMBL: ENSMUSP00000150595 (fasta)

Gene Model

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

AlphaFold

E9Q564

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098199
AA Change: F36I

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095801
Gene: ENSMUSG00000073948
AA Change: F36I

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

possibly damaging
Transcript: ENSMUST00000213546
AA Change: F36I

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 97.6%
3x: 97.0%
10x: 95.3%
20x: 92.1%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot5	A	T	12: 84,122,261 (GRCm39)	I282F	probably benign	Het
Adam19	C	A	11: 46,029,744 (GRCm39)	Q730K	probably benign	Het
Adgrv1	A	G	13: 81,636,066 (GRCm39)	V3481A	possibly damaging	Het
Akr1c20	T	C	13: 4,537,207 (GRCm39)	D316G	probably benign	Het
Ap3b1	G	A	13: 94,630,225 (GRCm39)	V827I	unknown	Het
Aph1a	T	A	3: 95,802,821 (GRCm39)	D140E	probably damaging	Het
Arhgef19	G	T	4: 140,976,929 (GRCm39)	V502L	possibly damaging	Het
Arl9	T	C	5: 77,154,473 (GRCm39)	F67S	probably damaging	Het
B430305J03Rik	G	A	3: 61,271,361 (GRCm39)		probably benign	Het
B4galnt2	A	G	11: 95,781,809 (GRCm39)	F119L	probably damaging	Het
Bcap29	T	A	12: 31,680,839 (GRCm39)	N49I	probably damaging	Het
Capn11	T	A	17: 45,943,327 (GRCm39)	K616*	probably null	Het
Cdh12	T	A	15: 21,520,452 (GRCm39)	Y306N	probably damaging	Het
Cep350	T	A	1: 155,828,960 (GRCm39)	N315Y	probably damaging	Het
Cfap300	A	C	9: 8,027,266 (GRCm39)	S91A	probably benign	Het
Cited2	C	A	10: 17,599,794 (GRCm39)	P34Q	probably damaging	Het
Cmya5	A	T	13: 93,226,297 (GRCm39)	D2930E	probably benign	Het
Cog3	T	A	14: 75,966,761 (GRCm39)	K470*	probably null	Het
Commd10	A	G	18: 47,123,552 (GRCm39)	T136A	probably benign	Het
Csf2ra	C	A	19: 61,214,782 (GRCm39)	D181Y	probably damaging	Het
Csmd1	T	A	8: 15,982,610 (GRCm39)	I2686F	probably damaging	Het
Dhx29	T	C	13: 113,081,620 (GRCm39)	S415P	probably benign	Het
Dsel	A	T	1: 111,788,645 (GRCm39)	F630Y	probably damaging	Het
Ell	T	A	8: 71,031,590 (GRCm39)	I96N	possibly damaging	Het
Ephx2	T	A	14: 66,325,752 (GRCm39)	I358L	probably benign	Het
Fam162b	A	G	10: 51,463,307 (GRCm39)	I120T	probably damaging	Het
Fam187a	T	C	11: 102,776,606 (GRCm39)	Y137H	probably damaging	Het
Fastk	T	C	5: 24,646,801 (GRCm39)	E403G	probably damaging	Het
Fcrlb	C	A	1: 170,734,901 (GRCm39)	V409F	probably benign	Het
Flot2	G	T	11: 77,948,831 (GRCm39)	A269S	probably benign	Het
Gpd2	T	A	2: 57,245,563 (GRCm39)	N419K	probably damaging	Het
Hecw1	A	T	13: 14,552,350 (GRCm39)	M61K	probably null	Het
Htr2a	T	C	14: 74,943,568 (GRCm39)	F383L	probably damaging	Het
Kctd6	C	T	14: 8,222,253 (GRCm38)	R32C	probably damaging	Het
Khdc1a	A	G	1: 21,421,189 (GRCm39)	T125A	probably benign	Het
Klhl40	T	C	9: 121,609,004 (GRCm39)	S390P	probably benign	Het
Lonp1	G	A	17: 56,921,956 (GRCm39)	T808I	probably damaging	Het
Loxhd1	A	C	18: 77,492,585 (GRCm39)	D1342A	probably damaging	Het
Lrat	T	C	3: 82,804,417 (GRCm39)	I187V	probably benign	Het
Lrif1	T	C	3: 106,643,162 (GRCm39)	*238Q	probably null	Het
Lrp2bp	T	C	8: 46,465,025 (GRCm39)	F48S	probably benign	Het
Mafg	A	G	11: 120,520,504 (GRCm39)	M32T	possibly damaging	Het
Map4	C	T	9: 109,864,023 (GRCm39)	T416I	probably benign	Het
N4bp2	T	C	5: 65,965,659 (GRCm39)	F1236S	probably damaging	Het
Nfatc3	A	G	8: 106,810,466 (GRCm39)	D414G	probably damaging	Het
Nhsl3	G	T	4: 129,117,370 (GRCm39)	S476R	probably damaging	Het
Nrip2	T	G	6: 128,382,037 (GRCm39)	V50G	probably damaging	Het
Or10aa3	A	T	1: 173,878,365 (GRCm39)	K142I	probably benign	Het
Or10j5	A	G	1: 172,784,374 (GRCm39)	N4S	probably benign	Het
Or5b24	T	A	19: 12,912,207 (GRCm39)	I35N	probably damaging	Het
Pcdhb18	A	T	18: 37,623,822 (GRCm39)	H384L	probably benign	Het
Pik3r1	A	T	13: 101,822,882 (GRCm39)	Y607N	probably damaging	Het
Plagl2	G	A	2: 153,074,397 (GRCm39)	T168I	probably damaging	Het
Polr2a	A	G	11: 69,633,222 (GRCm39)	S912P	probably damaging	Het
Ppp1r16b	A	G	2: 158,603,415 (GRCm39)	K447E	possibly damaging	Het
Prkd1	T	C	12: 50,388,822 (GRCm39)	E907G	possibly damaging	Het
Rabep2	A	G	7: 126,043,712 (GRCm39)	R470G	probably damaging	Het
Rasal2	T	C	1: 157,001,730 (GRCm39)	Y518C	probably damaging	Het
Rbmxl1	A	G	8: 79,232,711 (GRCm39)	Y211H	probably damaging	Het
Rdh7	T	C	10: 127,720,454 (GRCm39)	Y306C	probably benign	Het
Rtn3	T	C	19: 7,435,276 (GRCm39)	I220V	probably damaging	Het
Scn8a	A	G	15: 100,913,742 (GRCm39)	N1045D	possibly damaging	Het
Scube1	T	C	15: 83,491,638 (GRCm39)	H952R	probably damaging	Het
Sf3b1	A	G	1: 55,039,811 (GRCm39)	I690T	probably damaging	Het
Sharpin	T	C	15: 76,232,136 (GRCm39)	K240R	probably benign	Het
Skint5	A	G	4: 113,420,656 (GRCm39)	I1108T	unknown	Het
Snip1	A	G	4: 124,964,994 (GRCm39)	D133G	probably benign	Het
St3gal3	T	C	4: 117,871,971 (GRCm39)	Y77C	probably damaging	Het
Sytl3	T	C	17: 6,982,880 (GRCm39)	V112A	probably benign	Het
Tnxb	C	T	17: 34,936,944 (GRCm39)	P3718S	probably damaging	Het
Ttc24	A	T	3: 87,980,401 (GRCm39)		probably null	Het
Ubr3	A	T	2: 69,839,473 (GRCm39)	E1529V	probably damaging	Het
Utrn	T	A	10: 12,585,882 (GRCm39)	H965L	probably benign	Het
Xrn2	T	A	2: 146,903,343 (GRCm39)	L781Q	probably damaging	Het
Zbtb11	T	C	16: 55,811,045 (GRCm39)	I401T	probably benign	Het
Zc3h14	C	T	12: 98,724,839 (GRCm39)	P167L	probably damaging	Het
Zfp609	G	T	9: 65,610,374 (GRCm39)	S863*	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
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
R5059:Or52ae7	UTSW	7	103,119,488 (GRCm39)	nonsense	probably null
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'- AGGCTTTGCAATGCTACCTCCC -3'
(R):5'- ACTTCACCACAGCCATGTGCTC -3'

Sequencing Primer
(F):5'- CCCTGCTGAGAAGATTATCCTG -3'
(R):5'- AGCCATGTGCTCACAGTAG -3'

Posted On

2014-05-23