Mutagenetix > Incidental Mutation

Incidental Mutation 'R5174:Or52ae7'

399008

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

042754-MU

Accession Numbers

Essential gene?

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

Stock #

R5174 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103119248-103120198 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103119610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 121 (F121L)

Ref Sequence

ENSEMBL: ENSMUSP00000150595 (fasta)

Gene Model

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

AlphaFold

E9Q564

Predicted Effect

probably benign
Transcript: ENSMUST00000098199
AA Change: F121L

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000095801
Gene: ENSMUSG00000073948
AA Change: F121L

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 benign
Transcript: ENSMUST00000213546
AA Change: F121L

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)

Meta Mutation Damage Score

0.1189

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

99% (69/70)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	T	C	10: 69,728,209 (GRCm39)	S632P	probably damaging	Het
Arhgef16	G	A	4: 154,366,504 (GRCm39)	R451W	probably damaging	Het
Asxl3	A	T	18: 22,656,172 (GRCm39)	D1394V	probably benign	Het
Atp2a3	T	A	11: 72,871,041 (GRCm39)	I545N	probably damaging	Het
Cadps2	T	A	6: 23,287,742 (GRCm39)	Y1181F	probably damaging	Het
Camkmt	C	A	17: 85,759,665 (GRCm39)	F268L	probably benign	Het
Casp14	C	T	10: 78,551,225 (GRCm39)	G20D	possibly damaging	Het
Celf1	T	C	2: 90,831,353 (GRCm39)	C61R	probably damaging	Het
Cenpp	CAAACCTGAAAA	CAAA	13: 49,618,258 (GRCm39)		probably null	Het
Cers3	A	T	7: 66,434,616 (GRCm39)	K203M	probably damaging	Het
Clip4	T	C	17: 72,117,957 (GRCm39)	F334S	probably damaging	Het
Cyp2b13	T	A	7: 25,788,118 (GRCm39)	D415E	possibly damaging	Het
Decr2	A	T	17: 26,306,443 (GRCm39)		probably null	Het
Dmxl2	T	C	9: 54,352,768 (GRCm39)		probably null	Het
Dnah7b	G	A	1: 46,282,509 (GRCm39)	A2881T	possibly damaging	Het
Dnaja3	A	G	16: 4,502,161 (GRCm39)	H55R	probably benign	Het
Dnajc11	T	C	4: 152,064,441 (GRCm39)	F531L	probably damaging	Het
Efcab6	A	G	15: 83,938,687 (GRCm39)	F10L	probably benign	Het
Epm2aip1	T	C	9: 111,102,455 (GRCm39)	F476S	probably damaging	Het
Fat3	T	C	9: 15,910,866 (GRCm39)	N1712S	probably damaging	Het
Flnc	T	C	6: 29,448,893 (GRCm39)	V1343A	possibly damaging	Het
Fsip2	C	T	2: 82,811,085 (GRCm39)	P2468L	probably benign	Het
Gm5798	A	G	14: 41,070,620 (GRCm39)	H10R	possibly damaging	Het
Gm7168	A	G	17: 14,168,717 (GRCm39)	Y28C	probably damaging	Het
Gtpbp6	G	A	5: 110,255,983 (GRCm39)	R19C	possibly damaging	Het
Gucy2e	A	G	11: 69,127,392 (GRCm39)	F27S	probably benign	Het
Inhca	C	T	9: 103,159,755 (GRCm39)		probably null	Het
Krba1	A	G	6: 48,389,229 (GRCm39)	E548G	probably damaging	Het
Ltbr	A	G	6: 125,286,500 (GRCm39)	S229P	probably benign	Het
Mgat5b	A	T	11: 116,868,541 (GRCm39)	Y488F	probably benign	Het
Mia3	T	A	1: 183,112,348 (GRCm39)	K475*	probably null	Het
Mrpl53	C	T	6: 83,086,638 (GRCm39)	T114M	possibly damaging	Het
Mrps35	T	C	6: 146,961,709 (GRCm39)	Y195H	possibly damaging	Het
Muc4	A	T	16: 32,570,556 (GRCm39)	I539F	possibly damaging	Het
Nedd1	T	A	10: 92,547,074 (GRCm39)	T150S	possibly damaging	Het
Nox4	T	G	7: 86,972,974 (GRCm39)	I327S	probably benign	Het
Nrk	C	G	X: 137,887,528 (GRCm39)	A1018G	probably benign	Het
Or4c102	T	A	2: 88,422,992 (GRCm39)	N281K	probably damaging	Het
Or4d5	T	C	9: 40,012,043 (GRCm39)	T248A	possibly damaging	Het
Or5w19	T	A	2: 87,698,755 (GRCm39)	V140E	possibly damaging	Het
Pdzd2	G	A	15: 12,372,600 (GRCm39)	P2512S	probably benign	Het
Ptgis	T	A	2: 167,045,390 (GRCm39)		probably null	Het
Rnf170	T	A	8: 26,619,196 (GRCm39)	M140K	probably benign	Het
Scaf4	A	T	16: 90,044,062 (GRCm39)	I637K	unknown	Het
Sdccag8	A	T	1: 176,672,916 (GRCm39)	T270S	probably damaging	Het
Sec24d	T	C	3: 123,158,575 (GRCm39)	C1022R	probably damaging	Het
Sec63	T	C	10: 42,705,077 (GRCm39)		probably benign	Het
Serpinb3d	C	G	1: 107,006,228 (GRCm39)	E287Q	possibly damaging	Het
Silc1	A	T	12: 27,192,027 (GRCm39)		noncoding transcript	Het
Smarcd2	A	G	11: 106,157,871 (GRCm39)		probably benign	Het
Sox15	A	G	11: 69,546,545 (GRCm39)	Y116C	probably damaging	Het
Spag16	T	C	1: 70,532,955 (GRCm39)	S545P	probably damaging	Het
Ssc5d	C	A	7: 4,930,970 (GRCm39)	T184N	possibly damaging	Het
St6galnac2	A	T	11: 116,572,773 (GRCm39)	F228I	probably damaging	Het
Syne1	T	C	10: 4,991,490 (GRCm39)	N8408S	probably damaging	Het
Trank1	A	C	9: 111,194,627 (GRCm39)	T884P	probably benign	Het
Ubr3	T	A	2: 69,839,506 (GRCm39)	L1540H	probably damaging	Het
Ugt2b37	C	A	5: 87,399,739 (GRCm39)	M256I	probably benign	Het
Vmn2r69	G	A	7: 85,064,739 (GRCm39)	T49I	possibly damaging	Het
Vmn2r72	T	A	7: 85,387,048 (GRCm39)	I839L	probably benign	Het
Zcrb1	A	G	15: 93,285,456 (GRCm39)		probably null	Het
Zfp319	A	T	8: 96,054,797 (GRCm39)		probably null	Het
Zfp592	T	C	7: 80,688,073 (GRCm39)	S1000P	probably damaging	Het
Zfp938	T	C	10: 82,061,838 (GRCm39)	N261D	possibly damaging	Het
Zfp957	A	G	14: 79,450,828 (GRCm39)	S324P	unknown	Het
Zswim6	G	T	13: 107,863,216 (GRCm39)		noncoding transcript	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
R5059:Or52ae7	UTSW	7	103,119,488 (GRCm39)	nonsense	probably null
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'- TATCAAGCTGGAGCCAAGCC -3'
(R):5'- ATGTGCTCACAGTAGGTATGAGG -3'

Sequencing Primer
(F):5'- AAGCCTCCACCAGCCTATGTATTTC -3'
(R):5'- CAGTAGGTATGAGGGATTATATAGCC -3'

Posted On

2016-07-06