Mutagenetix > Incidental Mutation

Incidental Mutation 'R0238:Or52s1'

66099

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

038476-MU

Accession Numbers

Essential gene?

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

Stock #

R0238 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102861069-102862052 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 102861933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 289 (V289M)

Ref Sequence

ENSEMBL: ENSMUSP00000095807 (fasta)

Gene Model

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

AlphaFold

Q8VF28

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098206
AA Change: V289M

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095807
Gene: ENSMUSG00000073955
AA Change: V289M

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: V278M

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000214051

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.7%
3x: 97.4%
10x: 92.6%
20x: 76.9%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aar2	T	G	2: 156,392,893 (GRCm39)	V94G	probably benign	Het
Acp5	A	T	9: 22,041,218 (GRCm39)	S70T	possibly damaging	Het
Adcy1	C	G	11: 7,089,162 (GRCm39)	N525K	possibly damaging	Het
Aknad1	A	G	3: 108,688,555 (GRCm39)	M628V	probably benign	Het
Alg8	A	T	7: 97,032,891 (GRCm39)		probably null	Het
Cacna1d	A	G	14: 29,845,453 (GRCm39)	V572A	probably benign	Het
Ccdc158	A	C	5: 92,809,977 (GRCm39)	M177R	probably benign	Het
Ccdc191	A	T	16: 43,767,859 (GRCm39)	R678*	probably null	Het
Cdkn2d	C	A	9: 21,202,288 (GRCm39)		probably benign	Het
Cdx2	G	T	5: 147,240,097 (GRCm39)	T193K	probably damaging	Het
Cfap44	T	A	16: 44,242,681 (GRCm39)	M695K	probably benign	Het
Cfap70	A	C	14: 20,498,673 (GRCm39)	S5A	probably benign	Het
Chd9	T	C	8: 91,659,456 (GRCm39)	S139P	probably damaging	Het
Chmp7	A	G	14: 69,958,446 (GRCm39)	V241A	probably damaging	Het
Cnga1	A	G	5: 72,762,374 (GRCm39)	I380T	probably damaging	Het
Cts6	T	A	13: 61,349,633 (GRCm39)	E53D	probably damaging	Het
Dclk3	A	T	9: 111,311,696 (GRCm39)	N646I	probably damaging	Het
Dnhd1	A	G	7: 105,370,738 (GRCm39)	S4673G	probably benign	Het
Dock4	G	T	12: 40,787,539 (GRCm39)	S818I	probably damaging	Het
Dysf	C	T	6: 84,041,461 (GRCm39)	Q156*	probably null	Het
Fam163b	T	C	2: 27,002,646 (GRCm39)	N117S	probably damaging	Het
Fam89a	A	G	8: 125,467,971 (GRCm39)	Y114H	probably damaging	Het
Flcn	T	C	11: 59,691,902 (GRCm39)	N249S	probably benign	Het
Gm20422	T	C	8: 70,219,365 (GRCm39)	Y53C	probably damaging	Het
Gnai1	A	G	5: 18,478,548 (GRCm39)	S206P	probably damaging	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Hal	T	C	10: 93,339,344 (GRCm39)	S478P	possibly damaging	Het
Haus3	G	A	5: 34,323,600 (GRCm39)	P337S	possibly damaging	Het
Hectd1	T	A	12: 51,816,101 (GRCm39)	M1324L	possibly damaging	Het
Hspa9	A	T	18: 35,079,699 (GRCm39)	Y243*	probably null	Het
Htr3a	T	C	9: 48,817,686 (GRCm39)	T96A	probably benign	Het
Ift140	C	A	17: 25,264,497 (GRCm39)	C557*	probably null	Het
Jph3	A	G	8: 122,480,459 (GRCm39)	Q379R	possibly damaging	Het
Kcnb1	A	G	2: 166,946,889 (GRCm39)	V653A	probably benign	Het
Kif14	A	G	1: 136,455,131 (GRCm39)	E1551G	probably damaging	Het
Krt17	G	A	11: 100,151,704 (GRCm39)	R30*	probably null	Het
Lamb3	A	T	1: 193,003,361 (GRCm39)	D100V	probably damaging	Het
Map2	A	G	1: 66,455,265 (GRCm39)	D1385G	probably damaging	Het
Map3k21	A	G	8: 126,671,709 (GRCm39)	D999G	possibly damaging	Het
Marf1	T	C	16: 13,969,147 (GRCm39)	I109V	probably benign	Het
Mcam	T	G	9: 44,051,502 (GRCm39)		probably null	Het
Med18	T	C	4: 132,187,337 (GRCm39)	H99R	probably damaging	Het
Mettl25	C	T	10: 105,662,386 (GRCm39)	V195I	probably damaging	Het
Myh8	A	G	11: 67,192,518 (GRCm39)	T1466A	probably benign	Het
Myo1e	A	T	9: 70,249,408 (GRCm39)	I503F	possibly damaging	Het
Myo3b	T	A	2: 69,935,769 (GRCm39)	C61S	probably benign	Het
Myorg	A	T	4: 41,498,912 (GRCm39)	N239K	probably benign	Het
Nf1	A	T	11: 79,309,400 (GRCm39)	K438M	possibly damaging	Het
Nlrp9c	A	G	7: 26,077,437 (GRCm39)	S727P	possibly damaging	Het
Nmbr	C	T	10: 14,646,139 (GRCm39)	Q338*	probably null	Het
Nt5e	A	G	9: 88,249,385 (GRCm39)	S440G	possibly damaging	Het
Nubp2	T	C	17: 25,103,445 (GRCm39)	E144G	probably damaging	Het
Or12e7	T	C	2: 87,288,381 (GRCm39)	F291L	probably benign	Het
Or2ag1b	A	G	7: 106,288,462 (GRCm39)	Y159H	probably benign	Het
Otogl	T	A	10: 107,642,557 (GRCm39)	N1291I	probably damaging	Het
Pa2g4	T	C	10: 128,399,511 (GRCm39)	K51R	probably benign	Het
Pcdhb12	A	G	18: 37,569,780 (GRCm39)	I309V	probably benign	Het
Pck1	T	G	2: 172,998,861 (GRCm39)	I373S	possibly damaging	Het
Pga5	A	G	19: 10,646,817 (GRCm39)	Y305H	probably damaging	Het
Plxnd1	G	T	6: 115,945,754 (GRCm39)	D906E	probably benign	Het
Ppfia4	T	C	1: 134,256,927 (GRCm39)	E98G	possibly damaging	Het
Rab39	G	A	9: 53,617,330 (GRCm39)	T29I	probably damaging	Het
Raet1e	C	A	10: 22,056,761 (GRCm39)	H112Q	possibly damaging	Het
Rars2	A	C	4: 34,656,030 (GRCm39)	Q421P	probably benign	Het
Rars2	T	C	4: 34,645,838 (GRCm39)	Y252H	probably damaging	Het
Rasa2	A	T	9: 96,450,460 (GRCm39)	D479E	probably damaging	Het
Rbl2	A	T	8: 91,833,135 (GRCm39)	T689S	probably damaging	Het
Rims4	C	T	2: 163,705,945 (GRCm39)	V230M	probably benign	Het
Skp2	A	C	15: 9,127,971 (GRCm39)		probably null	Het
Slc35f4	A	T	14: 49,541,713 (GRCm39)	I347N	possibly damaging	Het
Slc4a2	A	T	5: 24,641,272 (GRCm39)		probably null	Het
Slc52a3	T	C	2: 151,850,076 (GRCm39)	*461Q	probably null	Het
Slc6a1	G	A	6: 114,279,761 (GRCm39)	V142I	probably benign	Het
Susd5	A	G	9: 113,925,977 (GRCm39)	*620W	probably null	Het
Timm21	T	C	18: 84,965,791 (GRCm39)	N239S	probably damaging	Het
Tmem63c	T	C	12: 87,122,413 (GRCm39)	W404R	probably damaging	Het
Tnrc6b	A	G	15: 80,772,065 (GRCm39)	D1118G	probably damaging	Het
Traf2	G	C	2: 25,427,138 (GRCm39)	A71G	possibly damaging	Het
Trim54	A	G	5: 31,291,463 (GRCm39)	M195V	probably benign	Het
Trip11	C	T	12: 101,850,987 (GRCm39)	E741K	probably damaging	Het
Trp73	AGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTG	4: 154,146,981 (GRCm39)		probably benign	Het
Trpm5	G	T	7: 142,636,695 (GRCm39)	T414N	probably damaging	Het
Vps51	G	T	19: 6,121,467 (GRCm39)	S185*	probably null	Het
Zfp329	G	T	7: 12,544,756 (GRCm39)	T256K	probably damaging	Het
Zfp729b	A	G	13: 67,740,022 (GRCm39)	Y748H	probably damaging	Het
Zfp777	T	C	6: 48,001,903 (GRCm39)	E773G	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
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
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

Posted On

2013-08-19