Mutagenetix > Incidental Mutation

Incidental Mutation 'R0602:Or52s1'

55484

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

038791-MU

Accession Numbers

Essential gene?

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

Stock #

R0602 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102861069-102862052 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 102861787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 229 (H229P)

Ref Sequence

ENSEMBL: ENSMUSP00000147588 (fasta)

Gene Model

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

AlphaFold

Q8VF28

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098206
AA Change: H240P

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000095807
Gene: ENSMUSG00000073955
AA Change: H240P

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

possibly damaging
Transcript: ENSMUST00000210686
AA Change: H229P

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000214051

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.6%
3x: 99.1%
10x: 97.5%
20x: 94.7%

Validation Efficiency

95% (58/61)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	T	C	7: 136,978,090 (GRCm39)		probably benign	Het
Arih1	A	G	9: 59,302,154 (GRCm39)		probably benign	Het
Bcl9	T	C	3: 97,113,102 (GRCm39)	I1118V	probably benign	Het
Cap1	T	C	4: 122,766,202 (GRCm39)	E12G	probably damaging	Het
Ccdc168	T	A	1: 44,099,127 (GRCm39)	K657I	possibly damaging	Het
Ccr2	A	G	9: 123,906,658 (GRCm39)	I313V	probably benign	Het
Cd1d2	T	C	3: 86,895,110 (GRCm39)	S161P	probably benign	Het
Cd226	C	T	18: 89,287,135 (GRCm39)	T311I	probably benign	Het
Col25a1	A	G	3: 130,369,063 (GRCm39)		probably null	Het
Cspg4	T	C	9: 56,795,301 (GRCm39)	F1012S	probably damaging	Het
Dnah7b	A	G	1: 46,364,002 (GRCm39)	M3541V	probably damaging	Het
Erbb2	G	A	11: 98,325,097 (GRCm39)	V852M	probably damaging	Het
Fer1l6	A	C	15: 58,449,794 (GRCm39)	T667P	probably damaging	Het
Gal3st2c	A	G	1: 93,936,901 (GRCm39)	Y282C	probably damaging	Het
Glp1r	T	C	17: 31,128,201 (GRCm39)	L60P	probably benign	Het
Gtf2h2	A	G	13: 100,605,533 (GRCm39)	V358A	probably benign	Het
H2ac18	T	C	3: 96,152,866 (GRCm39)		probably benign	Het
Hephl1	T	A	9: 15,000,347 (GRCm39)	I302F	probably damaging	Het
Lgi2	T	C	5: 52,711,765 (GRCm39)	D185G	probably damaging	Het
Lrtm1	T	C	14: 28,744,179 (GRCm39)		probably benign	Het
Megf10	T	G	18: 57,395,172 (GRCm39)	D511E	probably damaging	Het
Myo5c	A	G	9: 75,173,478 (GRCm39)		probably null	Het
Nrbf2	G	A	10: 67,103,605 (GRCm39)	T166M	probably damaging	Het
Nrm	C	A	17: 36,175,156 (GRCm39)	Y61*	probably null	Het
Ola1	A	G	2: 72,924,056 (GRCm39)	Y368H	probably damaging	Het
Or9i1b	A	G	19: 13,897,145 (GRCm39)	T254A	probably benign	Het
Or9q2	T	C	19: 13,772,026 (GRCm39)		probably null	Het
Panx1	A	G	9: 14,921,500 (GRCm39)	L125P	probably damaging	Het
Pappa2	A	G	1: 158,590,625 (GRCm39)		probably benign	Het
Parp6	A	G	9: 59,556,648 (GRCm39)		probably benign	Het
Pomgnt2	A	G	9: 121,811,339 (GRCm39)	Y481H	probably benign	Het
Ppp4c	A	G	7: 126,388,254 (GRCm39)		probably benign	Het
Prl8a8	T	A	13: 27,692,533 (GRCm39)		probably benign	Het
Prpf40b	C	A	15: 99,202,352 (GRCm39)	A70E	unknown	Het
Ptgfr	G	A	3: 151,540,839 (GRCm39)	T223M	probably damaging	Het
Ptprc	C	T	1: 138,017,223 (GRCm39)		probably benign	Het
Rgs22	T	C	15: 36,140,018 (GRCm39)		probably benign	Het
Rpgrip1	A	G	14: 52,371,313 (GRCm39)	E344G	possibly damaging	Het
Sgca	A	T	11: 94,854,061 (GRCm39)	I383N	possibly damaging	Het
Sgms2	T	A	3: 131,118,756 (GRCm39)		probably null	Het
Slc9b1	C	A	3: 135,103,516 (GRCm39)	Q549K	probably benign	Het
Smc4	G	C	3: 68,916,871 (GRCm39)	A187P	probably damaging	Het
Smco1	A	G	16: 32,092,062 (GRCm39)	S47G	probably damaging	Het
Sobp	T	A	10: 42,898,385 (GRCm39)	E400V	probably damaging	Het
Sp140l1	C	G	1: 85,077,226 (GRCm39)	K113N	probably benign	Het
Stil	T	A	4: 114,881,620 (GRCm39)		probably benign	Het
Sult3a2	A	T	10: 33,658,044 (GRCm39)	M23K	probably benign	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,144,734 (GRCm39)		probably null	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Tcof1	C	A	18: 60,966,605 (GRCm39)	G329W	probably damaging	Het
Ttc13	A	T	8: 125,401,105 (GRCm39)	S624T	probably damaging	Het
Vmn1r171	G	T	7: 23,332,602 (GRCm39)	V276L	probably benign	Het
Vps13b	T	C	15: 35,422,514 (GRCm39)	L158P	probably damaging	Het
Vps54	A	G	11: 21,256,434 (GRCm39)	I634M	possibly damaging	Het
Vwa8	T	G	14: 79,258,060 (GRCm39)	S736R	probably benign	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
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
R5285:Or52s1	UTSW	7	102,862,005 (GRCm39)	nonsense	probably null
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'- TTTTCATCATCAAGACAGACTCCAGCC -3'
(R):5'- CACAAATATATGCACTTGGGGAGCCAC -3'

Sequencing Primer
(F):5'- TTTGACACACACTGTAACTGGAGG -3'
(R):5'- CACCTTGTGCCCAAATCTATG -3'

Posted On

2013-07-11