Mutagenetix > Incidental Mutation

Incidental Mutation 'R9327:Or52n20'

706574

Institutional Source

Beutler Lab

Gene Symbol

Or52n20

Ensembl Gene

ENSMUSG00000073922

Gene Name

olfactory receptor family 52 subfamily N member 20

Synonyms

Olfr659, MOR34-4, GA_x6K02T2PBJ9-7298889-7299857

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R9327 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104319911-104320879 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104320742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 278 (I278V)

Ref Sequence

ENSEMBL: ENSMUSP00000149939 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098170] [ENSMUST00000214986]

AlphaFold

Q8VGV6

Predicted Effect

probably damaging
Transcript: ENSMUST00000098170
AA Change: I278V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000095772
Gene: ENSMUSG00000073922
AA Change: I278V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	314	5.2e-99	PFAM
Pfam:7TM_GPCR_Srsx	37	256	7.2e-9	PFAM
Pfam:7tm_1	43	296	4.7e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214986
AA Change: I278V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (57/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	A	19: 31,895,499 (GRCm39)	M194K	probably benign	Het
Abcg1	T	C	17: 31,333,122 (GRCm39)	S622P	probably benign	Het
Ahnak2	A	T	12: 112,748,446 (GRCm39)	V467E		Het
Amdhd2	T	C	17: 24,377,421 (GRCm39)	E164G	probably benign	Het
Ank3	G	A	10: 69,812,086 (GRCm39)		probably null	Het
Bank1	A	T	3: 135,799,308 (GRCm39)	N545K	probably benign	Het
C9orf72	A	G	4: 35,205,883 (GRCm39)	I247T		Het
Cep63	T	C	9: 102,467,723 (GRCm39)	I548V	probably benign	Het
Col28a1	T	C	6: 8,175,653 (GRCm39)	D65G	unknown	Het
Cspg4b	C	A	13: 113,453,710 (GRCm39)	Q58K		Het
Cyp2c50	A	G	19: 40,079,010 (GRCm39)	N118D	probably benign	Het
Dock10	C	T	1: 80,510,184 (GRCm39)	C1549Y	probably damaging	Het
Epg5	A	G	18: 77,991,435 (GRCm39)	E44G	probably benign	Het
Ephb4	T	C	5: 137,361,529 (GRCm39)	S520P	probably damaging	Het
Eppk1	T	C	15: 75,993,755 (GRCm39)	E1042G	probably benign	Het
Fmod	A	T	1: 133,968,589 (GRCm39)	N210Y	probably damaging	Het
Fpr3	A	G	17: 18,191,713 (GRCm39)	D328G	probably damaging	Het
Garem2	T	G	5: 30,321,989 (GRCm39)	C783G	probably benign	Het
Gm10542	A	G	18: 44,337,689 (GRCm39)	N56D	probably damaging	Het
Gm20939	T	A	17: 95,184,424 (GRCm39)	N357K	probably benign	Het
Hr	A	G	14: 70,805,228 (GRCm39)	H990R	possibly damaging	Het
Il21r	A	G	7: 125,226,163 (GRCm39)	N53S	unknown	Het
Insrr	C	T	3: 87,721,604 (GRCm39)	T1170I	probably damaging	Het
Itga11	A	G	9: 62,638,034 (GRCm39)	M103V	probably damaging	Het
Izumo3	G	T	4: 92,035,050 (GRCm39)	Q56K	probably damaging	Het
Kcnh8	T	C	17: 53,146,084 (GRCm39)	V324A	probably damaging	Het
Kcnj2	T	A	11: 110,963,719 (GRCm39)	N370K	probably benign	Het
Klf16	G	T	10: 80,412,688 (GRCm39)	S116*	probably null	Het
Mettl16	T	C	11: 74,696,089 (GRCm39)	V310A	probably benign	Het
Misp3	G	T	8: 84,737,080 (GRCm39)	Q105K	unknown	Het
Mmrn2	G	A	14: 34,097,473 (GRCm39)		probably benign	Het
Mtcl1	A	G	17: 66,645,130 (GRCm39)	L1888P	probably damaging	Het
Muc5ac	A	C	7: 141,365,429 (GRCm39)	T1984P	possibly damaging	Het
Myo16	G	T	8: 10,489,705 (GRCm39)		probably null	Het
Nckipsd	T	C	9: 108,691,699 (GRCm39)	I466T	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Npffr2	A	G	5: 89,730,661 (GRCm39)	H197R	probably benign	Het
Nrap	T	A	19: 56,340,100 (GRCm39)	M842L	probably benign	Het
Nxpe4	G	A	9: 48,309,984 (GRCm39)	A416T	probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or51t4	T	C	7: 102,597,687 (GRCm39)	V5A	probably benign	Het
Or5p53	T	A	7: 107,533,019 (GRCm39)	C97*	probably null	Het
Ppp1r15a	C	T	7: 45,174,035 (GRCm39)	A258T	possibly damaging	Het
Prss36	A	T	7: 127,532,570 (GRCm39)	Y760*	probably null	Het
Psg26	T	A	7: 18,216,480 (GRCm39)	T120S	probably damaging	Het
Ptk7	A	T	17: 46,878,977 (GRCm39)	L908Q	probably benign	Het
S100a13	G	T	3: 90,423,170 (GRCm39)	D54Y	unknown	Het
Slc25a44	A	T	3: 88,328,025 (GRCm39)	H155Q	probably benign	Het
Smarcc2	A	G	10: 128,321,486 (GRCm39)	T894A	probably damaging	Het
Tle4	A	G	19: 14,574,149 (GRCm39)	F39L	probably damaging	Het
Tmem181a	G	A	17: 6,346,048 (GRCm39)	V181M	possibly damaging	Het
Tmt1b	A	G	10: 128,794,607 (GRCm39)	M239T	probably benign	Het
Trpm3	T	C	19: 22,896,004 (GRCm39)	V947A	possibly damaging	Het
Txndc16	G	A	14: 45,379,448 (GRCm39)	T663I	probably benign	Het
Vmn2r45	T	C	7: 8,474,532 (GRCm39)	Y832C	probably damaging	Het
Vmn2r9	T	C	5: 108,996,841 (GRCm39)	T143A	probably damaging	Het
Vps26b	T	C	9: 26,930,750 (GRCm39)	N82D	probably benign	Het
Zfp318	T	G	17: 46,721,892 (GRCm39)	F1298L	probably damaging	Het

Other mutations in Or52n20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01443:Or52n20	APN	7	104,320,278 (GRCm39)	missense	probably damaging	1.00
IGL01640:Or52n20	APN	7	104,320,871 (GRCm39)	missense	probably damaging	0.96
IGL01774:Or52n20	APN	7	104,320,149 (GRCm39)	missense	probably benign	0.01
IGL01912:Or52n20	APN	7	104,320,440 (GRCm39)	missense	possibly damaging	0.91
IGL02338:Or52n20	APN	7	104,320,888 (GRCm39)	utr 3 prime	probably benign
IGL02611:Or52n20	APN	7	104,320,614 (GRCm39)	missense	possibly damaging	0.91
IGL02707:Or52n20	APN	7	104,320,136 (GRCm39)	missense	probably damaging	0.97
R1139:Or52n20	UTSW	7	104,320,098 (GRCm39)	missense	probably damaging	1.00
R1283:Or52n20	UTSW	7	104,320,150 (GRCm39)	missense	possibly damaging	0.94
R1867:Or52n20	UTSW	7	104,320,524 (GRCm39)	missense	possibly damaging	0.89
R2004:Or52n20	UTSW	7	104,320,808 (GRCm39)	missense	possibly damaging	0.88
R2265:Or52n20	UTSW	7	104,320,067 (GRCm39)	missense	probably benign	0.00
R4057:Or52n20	UTSW	7	104,320,476 (GRCm39)	missense	probably damaging	1.00
R4519:Or52n20	UTSW	7	104,320,046 (GRCm39)	missense	probably damaging	1.00
R4735:Or52n20	UTSW	7	104,320,200 (GRCm39)	missense	probably benign
R4745:Or52n20	UTSW	7	104,320,711 (GRCm39)	missense	probably damaging	1.00
R4816:Or52n20	UTSW	7	104,319,942 (GRCm39)	missense	probably benign	0.04
R5274:Or52n20	UTSW	7	104,320,733 (GRCm39)	missense	probably damaging	0.99
R6299:Or52n20	UTSW	7	104,320,075 (GRCm39)	missense	probably benign	0.08
R6312:Or52n20	UTSW	7	104,320,796 (GRCm39)	missense	probably damaging	1.00
R6770:Or52n20	UTSW	7	104,320,725 (GRCm39)	missense	probably damaging	1.00
R7293:Or52n20	UTSW	7	104,319,925 (GRCm39)	missense	probably damaging	1.00
R8119:Or52n20	UTSW	7	104,320,061 (GRCm39)	missense	probably damaging	1.00
R8425:Or52n20	UTSW	7	104,320,502 (GRCm39)	missense	probably damaging	1.00
R8493:Or52n20	UTSW	7	104,320,022 (GRCm39)	missense	probably benign	0.13
R8694:Or52n20	UTSW	7	104,320,296 (GRCm39)	missense	probably damaging	1.00
R9323:Or52n20	UTSW	7	104,320,220 (GRCm39)	missense	possibly damaging	0.78
RF004:Or52n20	UTSW	7	104,320,248 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACCATGATCCTGAAAGCAGTG -3'
(R):5'- CATAGAGAGTTGAACGCAGTATGAC -3'

Sequencing Primer
(F):5'- CCTGAAAGCAGTGGTCAGCTTATC -3'
(R):5'- CAAAGTGTATGACCATTTGCGGACC -3'

Posted On

2022-04-18