Mutagenetix > Incidental Mutation

Incidental Mutation 'R5285:Or52s1'

402991

Institutional Source

Beutler Lab

Gene Symbol

Or52s1

Ensembl Gene

ENSMUSG00000073955

Gene Name

olfactory receptor family 52 subfamily S member 1

Synonyms

MOR24-2, Olfr593, GA_x6K02T2PBJ9-5927412-5928362

MMRRC Submission

042869-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R5285 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102861069-102862052 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 102862005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 302 (R302*)

Ref Sequence

ENSEMBL: ENSMUSP00000147588 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098206] [ENSMUST00000210686] [ENSMUST00000214051]

AlphaFold

Q8VF28

Predicted Effect

probably null
Transcript: ENSMUST00000098206
AA Change: R313*

SMART Domains

Protein: ENSMUSP00000095807
Gene: ENSMUSG00000073955
AA Change: R313*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	44	323	4.9e-106	PFAM
Pfam:7TM_GPCR_Srsx	48	320	2.6e-8	PFAM
Pfam:7tm_1	54	305	6.8e-20	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000210686
AA Change: R302*

Predicted Effect

probably benign
Transcript: ENSMUST00000214051

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

98% (65/66)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 106,435,097 (GRCm39)	T12A	probably benign	Het
Acbd6	T	A	1: 155,434,471 (GRCm39)	S30T	probably benign	Het
Adcy8	G	T	15: 64,639,706 (GRCm39)	H685N	possibly damaging	Het
Aldh1l1	A	T	6: 90,553,752 (GRCm39)	K539*	probably null	Het
Ap1m2	G	T	9: 21,216,933 (GRCm39)	Y134*	probably null	Het
Apobr	A	G	7: 126,184,175 (GRCm39)		probably benign	Het
Atl1	A	G	12: 70,001,273 (GRCm39)	K345R	probably benign	Het
Avil	T	C	10: 126,854,328 (GRCm39)	L765P	probably damaging	Het
Caps2	T	A	10: 112,044,216 (GRCm39)	Y472N	probably benign	Het
Catspere2	A	G	1: 177,931,454 (GRCm39)	K458E	unknown	Het
Cd177	A	T	7: 24,445,674 (GRCm39)	S590T	probably benign	Het
Cep295	T	C	9: 15,233,887 (GRCm39)	D2223G	probably benign	Het
Cfh	T	C	1: 140,028,636 (GRCm39)	T493A	probably benign	Het
Chek1	T	C	9: 36,625,748 (GRCm39)	D299G	probably benign	Het
Cpox	G	A	16: 58,495,649 (GRCm39)	G322D	probably damaging	Het
Crhr1	A	T	11: 104,061,323 (GRCm39)	I243F	possibly damaging	Het
Cyp3a11	A	G	5: 145,791,893 (GRCm39)	V500A	probably benign	Het
Dcdc5	A	T	2: 106,198,500 (GRCm39)		noncoding transcript	Het
Ergic3	A	G	2: 155,859,957 (GRCm39)		probably benign	Het
Fabp3-ps1	T	G	10: 86,568,066 (GRCm39)		probably benign	Het
Gm6445	C	A	19: 9,585,032 (GRCm39)		noncoding transcript	Het
Gucy2d	C	A	7: 98,107,474 (GRCm39)		probably null	Het
Ighv1-19-1	C	A	12: 114,667,872 (GRCm39)		probably benign	Het
Igkv2-116	G	T	6: 68,129,463 (GRCm39)	R75L	probably benign	Het
Inhbc	C	A	10: 127,193,269 (GRCm39)	R249L	probably damaging	Het
Lrrn2	T	A	1: 132,866,983 (GRCm39)	S683T	possibly damaging	Het
Lyst	T	C	13: 13,809,011 (GRCm39)	V227A	probably benign	Het
Mroh5	TGGAG	TG	15: 73,654,923 (GRCm39)		probably benign	Het
Msh4	T	C	3: 153,579,350 (GRCm39)	N587S	probably benign	Het
Mug1	G	A	6: 121,818,066 (GRCm39)	E126K	probably benign	Het
Nav2	T	C	7: 49,197,982 (GRCm39)	S1204P	probably damaging	Het
Ncor1	A	G	11: 62,283,475 (GRCm39)	I413T	probably damaging	Het
Nipa2	A	T	7: 55,582,760 (GRCm39)	Y328*	probably null	Het
Or1e25	T	A	11: 73,493,767 (GRCm39)	Y120*	probably null	Het
Or51a24	A	G	7: 103,733,340 (GRCm39)	*316R	probably null	Het
Or5k15	A	T	16: 58,710,471 (GRCm39)	Y37*	probably null	Het
Or5k3	T	C	16: 58,969,633 (GRCm39)	L140P	probably damaging	Het
Pla2g4e	T	C	2: 120,019,985 (GRCm39)	D155G	probably damaging	Het
Plxnb1	C	T	9: 108,937,527 (GRCm39)	T1176I	probably damaging	Het
Polg	A	G	7: 79,114,973 (GRCm39)		probably benign	Het
Prl8a2	G	A	13: 27,534,116 (GRCm39)		probably null	Het
Prmt7	G	A	8: 106,974,991 (GRCm39)	R529Q	probably benign	Het
Psg17	T	A	7: 18,554,126 (GRCm39)	L41F	probably benign	Het
Rad18	T	C	6: 112,663,726 (GRCm39)	R73G	probably benign	Het
Rhpn2	G	T	7: 35,080,990 (GRCm39)		probably benign	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Sarm1	A	G	11: 78,388,265 (GRCm39)	F7S	probably benign	Het
Sgip1	T	A	4: 102,778,674 (GRCm39)		probably benign	Het
Sh3gl2	A	G	4: 85,294,686 (GRCm39)	K99R	probably benign	Het
Sorbs1	G	A	19: 40,310,334 (GRCm39)	T1018I	probably damaging	Het
Spns2	G	A	11: 72,380,305 (GRCm39)	A106V	possibly damaging	Het
Stab1	A	G	14: 30,865,433 (GRCm39)		probably benign	Het
Steap3	T	C	1: 120,169,610 (GRCm39)	D191G	probably damaging	Het
Stxbp5	T	C	10: 9,674,019 (GRCm39)		probably null	Het
Sycp2	A	T	2: 178,034,191 (GRCm39)		probably null	Het
Tm6sf1	A	G	7: 81,509,200 (GRCm39)	S2G	possibly damaging	Het
Usp24	T	A	4: 106,264,230 (GRCm39)	D1720E	probably benign	Het
Vmn1r200	G	A	13: 22,579,457 (GRCm39)	E78K	possibly damaging	Het
Vmn2r120	A	G	17: 57,843,703 (GRCm39)	L47P	probably damaging	Het
Vmn2r14	T	C	5: 109,365,442 (GRCm39)	N544S	probably damaging	Het
Vwa1	C	T	4: 155,855,352 (GRCm39)	A254T	probably benign	Het
Zfp7	G	A	15: 76,775,422 (GRCm39)	R488Q	probably damaging	Het
Zfp940	A	T	7: 29,545,025 (GRCm39)	L294H	probably damaging	Het

Other mutations in Or52s1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00929:Or52s1	APN	7	102,861,892 (GRCm39)	missense	probably damaging	1.00
IGL01636:Or52s1	APN	7	102,861,384 (GRCm39)	missense	probably benign
IGL01637:Or52s1	APN	7	102,861,384 (GRCm39)	missense	probably benign
IGL02115:Or52s1	APN	7	102,861,681 (GRCm39)	missense	probably damaging	1.00
IGL02668:Or52s1	APN	7	102,861,942 (GRCm39)	missense	possibly damaging	0.88
IGL03063:Or52s1	APN	7	102,861,841 (GRCm39)	missense	probably damaging	0.96
IGL03070:Or52s1	APN	7	102,861,904 (GRCm39)	missense	probably benign	0.02
IGL03114:Or52s1	APN	7	102,861,928 (GRCm39)	missense	probably damaging	1.00
R0144:Or52s1	UTSW	7	102,861,747 (GRCm39)	missense	probably damaging	1.00
R0238:Or52s1	UTSW	7	102,861,933 (GRCm39)	missense	possibly damaging	0.93
R0238:Or52s1	UTSW	7	102,861,933 (GRCm39)	missense	possibly damaging	0.93
R0239:Or52s1	UTSW	7	102,861,933 (GRCm39)	missense	possibly damaging	0.93
R0239:Or52s1	UTSW	7	102,861,933 (GRCm39)	missense	possibly damaging	0.93
R0309:Or52s1	UTSW	7	102,861,928 (GRCm39)	missense	probably damaging	1.00
R0602:Or52s1	UTSW	7	102,861,787 (GRCm39)	missense	possibly damaging	0.76
R0677:Or52s1	UTSW	7	102,862,005 (GRCm39)	nonsense	probably null
R0783:Or52s1	UTSW	7	102,861,877 (GRCm39)	missense	probably damaging	1.00
R1829:Or52s1	UTSW	7	102,861,093 (GRCm39)	missense	probably benign	0.01
R3840:Or52s1	UTSW	7	102,861,900 (GRCm39)	missense	probably damaging	1.00
R3841:Or52s1	UTSW	7	102,861,900 (GRCm39)	missense	probably damaging	1.00
R4449:Or52s1	UTSW	7	102,861,687 (GRCm39)	missense	probably benign	0.00
R4898:Or52s1	UTSW	7	102,861,747 (GRCm39)	missense	probably damaging	1.00
R5197:Or52s1	UTSW	7	102,861,207 (GRCm39)	missense	probably benign	0.02
R6548:Or52s1	UTSW	7	102,861,111 (GRCm39)	missense	probably benign	0.08
R7353:Or52s1	UTSW	7	102,861,516 (GRCm39)	missense	probably damaging	1.00
R7362:Or52s1	UTSW	7	102,861,861 (GRCm39)	missense	probably damaging	1.00
R7663:Or52s1	UTSW	7	102,861,652 (GRCm39)	missense	possibly damaging	0.74
R7799:Or52s1	UTSW	7	102,861,186 (GRCm39)	missense	probably benign	0.33
R8405:Or52s1	UTSW	7	102,861,408 (GRCm39)	missense	probably benign	0.31
R8835:Or52s1	UTSW	7	102,861,928 (GRCm39)	missense	probably damaging	1.00
R9417:Or52s1	UTSW	7	102,861,156 (GRCm39)	missense	possibly damaging	0.51
R9429:Or52s1	UTSW	7	102,861,871 (GRCm39)	missense	possibly damaging	0.74
X0067:Or52s1	UTSW	7	102,861,255 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- ACCTGTGGCTCACATGTCTG -3'
(R):5'- TTTGGGAAACAGGTATGAAATCCAC -3'

Sequencing Primer
(F):5'- CACATGTCTGTGTCATCTTAGTG -3'
(R):5'- GTATGAAATCCACAGGAAAAACTGC -3'

Posted On

2016-07-22