Mutagenetix > Incidental Mutation

Incidental Mutation 'R0383:Or52r1'

31084

Institutional Source

Beutler Lab

Gene Symbol

Or52r1

Ensembl Gene

ENSMUSG00000062142

Gene Name

olfactory receptor family 52 subfamily R member 1

Synonyms

MOR30-1, GA_x6K02T2PBJ9-5599295-5598351, Olfr569

MMRRC Submission

038589-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R0383 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102536414-102537358 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102536458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 301 (I301F)

Ref Sequence

ENSEMBL: ENSMUSP00000149088 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078191] [ENSMUST00000217024]

AlphaFold

Q8VGZ2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078191
AA Change: I301F

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077321
Gene: ENSMUSG00000062142
AA Change: I301F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	1.2e-113	PFAM
Pfam:7TM_GPCR_Srsx	37	229	1.3e-9	PFAM
Pfam:7tm_1	43	294	1.9e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217024
AA Change: I301F

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.2%
20x: 88.6%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	G	T	11: 80,254,767 (GRCm39)	Y351*	probably null	Het
Aadac	G	T	3: 59,943,368 (GRCm39)	R91L	possibly damaging	Het
Adgrg1	T	A	8: 95,738,370 (GRCm39)	F621Y	probably damaging	Het
Ankmy1	G	T	1: 92,812,775 (GRCm39)	D511E	probably benign	Het
Anks4b	A	T	7: 119,782,097 (GRCm39)	D376V	probably damaging	Het
Aox1	G	T	1: 58,100,400 (GRCm39)	C399F	probably benign	Het
Arfgef1	C	T	1: 10,269,067 (GRCm39)		probably null	Het
Arhgef4	G	A	1: 34,849,614 (GRCm39)	V546M	probably damaging	Het
Cab39	T	A	1: 85,765,020 (GRCm39)	V98E	probably damaging	Het
Cacna1b	T	C	2: 24,651,856 (GRCm39)	N108D	probably damaging	Het
Car15	C	A	16: 17,654,617 (GRCm39)	E134*	probably null	Het
Ccdc80	T	G	16: 44,915,732 (GRCm39)	Y163D	probably damaging	Het
Cdcp3	A	G	7: 130,841,268 (GRCm39)	M537V	probably benign	Het
Col22a1	C	T	15: 71,740,853 (GRCm39)	G513D	unknown	Het
Col8a1	T	C	16: 57,452,805 (GRCm39)	D66G	probably damaging	Het
Crot	C	A	5: 9,018,734 (GRCm39)	S544I	probably damaging	Het
Cubn	G	T	2: 13,435,770 (GRCm39)	P1062Q	probably damaging	Het
Dcc	A	T	18: 71,553,334 (GRCm39)	V774E	probably damaging	Het
Dlgap5	T	A	14: 47,647,818 (GRCm39)	M240L	probably benign	Het
Dlx4	A	G	11: 95,036,261 (GRCm39)	V16A	probably benign	Het
Dnah17	G	T	11: 117,958,373 (GRCm39)	H2703Q	probably benign	Het
Duox2	A	G	2: 122,122,291 (GRCm39)		probably null	Het
Fn1	C	T	1: 71,636,844 (GRCm39)	V168I	probably damaging	Het
Fpr-rs4	A	T	17: 18,242,359 (GRCm39)	D122V	probably damaging	Het
Gas2l2	A	T	11: 83,313,923 (GRCm39)	I463N	probably benign	Het
Ggta1	G	T	2: 35,292,416 (GRCm39)	P297Q	probably damaging	Het
Gpatch3	C	A	4: 133,305,457 (GRCm39)	R231S	probably damaging	Het
Gpc1	T	C	1: 92,782,705 (GRCm39)	Y151H	probably damaging	Het
Gpr141b	A	G	13: 19,913,317 (GRCm39)		noncoding transcript	Het
Gtf2e2	T	C	8: 34,245,973 (GRCm39)	W119R	probably damaging	Het
H2-M10.2	T	C	17: 36,595,253 (GRCm39)	I304V	probably benign	Het
Helq	T	C	5: 100,927,031 (GRCm39)	K685R	probably benign	Het
Hps5	C	T	7: 46,418,712 (GRCm39)		probably null	Het
Iars1	T	C	13: 49,885,818 (GRCm39)	C1186R	probably damaging	Het
Ift43	T	C	12: 86,208,795 (GRCm39)	V158A	possibly damaging	Het
Ift70b	A	G	2: 75,768,586 (GRCm39)	Y56H	probably damaging	Het
Iqca1	A	T	1: 90,070,429 (GRCm39)	I141N	probably damaging	Het
Kat6b	A	G	14: 21,719,149 (GRCm39)	N1276S	probably benign	Het
Kif19a	A	T	11: 114,656,340 (GRCm39)	M1L	possibly damaging	Het
Kif1b	T	G	4: 149,286,969 (GRCm39)	H1241P	probably damaging	Het
Kif26a	T	C	12: 112,144,510 (GRCm39)	V1588A	possibly damaging	Het
Klb	T	A	5: 65,529,842 (GRCm39)		probably null	Het
Krtap26-1	A	T	16: 88,444,131 (GRCm39)	Y163*	probably null	Het
Lefty1	G	T	1: 180,765,199 (GRCm39)	E256*	probably null	Het
Lox	T	C	18: 52,662,271 (GRCm39)	N44S	possibly damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mctp1	A	G	13: 76,949,663 (GRCm39)	Y565C	probably damaging	Het
Megf6	C	T	4: 154,349,783 (GRCm39)	A961V	probably benign	Het
Mindy4	A	G	6: 55,253,619 (GRCm39)	K496R	probably benign	Het
Nalcn	A	T	14: 123,744,971 (GRCm39)	H352Q	probably benign	Het
Ncoa5	T	C	2: 164,851,310 (GRCm39)	I188V	possibly damaging	Het
Notum	G	T	11: 120,545,282 (GRCm39)	H426N	probably benign	Het
Orm2	A	T	4: 63,282,233 (GRCm39)	D137V	probably damaging	Het
Pabpc2	G	A	18: 39,908,448 (GRCm39)	G571D	probably damaging	Het
Pabpc4	A	G	4: 123,191,735 (GRCm39)	N599S	probably damaging	Het
Pak1ip1	T	C	13: 41,166,080 (GRCm39)	V335A	probably benign	Het
Pcdhb11	A	C	18: 37,556,446 (GRCm39)	D592A	probably damaging	Het
Pmch	C	A	10: 87,927,120 (GRCm39)	T41K	possibly damaging	Het
Polb	G	T	8: 23,130,011 (GRCm39)	S187*	probably null	Het
Pter	G	T	2: 13,005,753 (GRCm39)	G309*	probably null	Het
Ptprg	T	C	14: 12,219,024 (GRCm38)	V406A	possibly damaging	Het
Ranbp3l	A	T	15: 9,063,184 (GRCm39)	E467V	possibly damaging	Het
Rif1	T	A	2: 51,975,153 (GRCm39)	M354K	probably damaging	Het
Ripk4	C	T	16: 97,549,312 (GRCm39)	C248Y	probably damaging	Het
Slc6a15	T	C	10: 103,253,914 (GRCm39)	W617R	probably damaging	Het
Smyd5	C	T	6: 85,417,155 (GRCm39)	Q178*	probably null	Het
St18	T	A	1: 6,873,248 (GRCm39)	F328I	probably damaging	Het
Supt20	T	A	3: 54,610,570 (GRCm39)	L124*	probably null	Het
Tarbp1	T	A	8: 127,174,223 (GRCm39)	H861L	probably benign	Het
Tars1	A	G	15: 11,390,411 (GRCm39)	M356T	probably benign	Het
Tbc1d10a	A	G	11: 4,162,819 (GRCm39)	T221A	probably damaging	Het
Tead3	A	G	17: 28,553,672 (GRCm39)		probably null	Het
Tprg1	A	G	16: 25,240,985 (GRCm39)	T254A	probably damaging	Het
Trank1	C	A	9: 111,220,545 (GRCm39)	N2427K	probably benign	Het
Tufm	T	C	7: 126,089,036 (GRCm39)	S380P	probably damaging	Het
Tyrobp	C	T	7: 30,114,042 (GRCm39)	R68C	probably damaging	Het
Ubl4b	T	C	3: 107,462,143 (GRCm39)	E39G	possibly damaging	Het
Uggt2	A	T	14: 119,286,863 (GRCm39)	F661I	probably damaging	Het
Upf3b	A	G	X: 36,368,120 (GRCm39)	I144T	probably benign	Het
Usp54	A	T	14: 20,611,320 (GRCm39)	D1165E	probably benign	Het
Vmn2r81	C	T	10: 79,129,281 (GRCm39)	T724I	possibly damaging	Het
Vsig1	A	G	X: 139,837,062 (GRCm39)	I247M	possibly damaging	Het
Zfp110	C	A	7: 12,583,187 (GRCm39)	L612I	probably benign	Het
Zfp318	C	A	17: 46,724,222 (GRCm39)	T2075K	probably damaging	Het
Zfp37	A	G	4: 62,110,122 (GRCm39)	M1T	probably null	Het
Zfp605	T	A	5: 110,276,720 (GRCm39)	C613S	probably damaging	Het
Zfp729a	G	A	13: 67,769,792 (GRCm39)	P146S	possibly damaging	Het
Zfp85	T	C	13: 67,896,791 (GRCm39)	N427S	probably benign	Het

Other mutations in Or52r1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01965:Or52r1	APN	7	102,536,814 (GRCm39)	missense	probably damaging	1.00
IGL02505:Or52r1	APN	7	102,536,814 (GRCm39)	missense	probably damaging	1.00
IGL02885:Or52r1	APN	7	102,537,243 (GRCm39)	missense	possibly damaging	0.83
IGL03339:Or52r1	APN	7	102,536,989 (GRCm39)	missense	probably benign	0.02
R1767:Or52r1	UTSW	7	102,536,833 (GRCm39)	missense	probably damaging	1.00
R1793:Or52r1	UTSW	7	102,537,250 (GRCm39)	missense	probably benign	0.44
R1812:Or52r1	UTSW	7	102,537,285 (GRCm39)	missense	probably benign	0.32
R6061:Or52r1	UTSW	7	102,537,158 (GRCm39)	missense	probably benign	0.31
R7855:Or52r1	UTSW	7	102,536,835 (GRCm39)	missense	probably benign	0.01
R8155:Or52r1	UTSW	7	102,536,452 (GRCm39)	missense	probably benign	0.00
R8890:Or52r1	UTSW	7	102,536,699 (GRCm39)	nonsense	probably null
R9131:Or52r1	UTSW	7	102,537,186 (GRCm39)	missense	probably benign	0.07
R9188:Or52r1	UTSW	7	102,536,596 (GRCm39)	missense	possibly damaging	0.95
R9398:Or52r1	UTSW	7	102,537,000 (GRCm39)	missense	probably damaging	1.00
Z1177:Or52r1	UTSW	7	102,536,968 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCAGTCACCTGCTGCTTGTTTTAC -3'
(R):5'- AGAGCTGTGCTGAGGTTGCCCT -3'

Sequencing Primer
(F):5'- TCCACAAAAGGTTTCAAATCTCTC -3'
(R):5'- AGGTTGCCCTCAGGTGAAG -3'

Posted On

2013-04-24