Mutagenetix > Incidental Mutation

Incidental Mutation 'R5197:Or52s1'

400356

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

042773-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R5197 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102861069-102862052 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 102861207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 47 (V47I)

Ref Sequence

ENSEMBL: ENSMUSP00000095807 (fasta)

Gene Model

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

AlphaFold

Q8VF28

Predicted Effect

probably benign
Transcript: ENSMUST00000098206
AA Change: V47I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000095807
Gene: ENSMUSG00000073955
AA Change: V47I

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 benign
Transcript: ENSMUST00000210686
AA Change: V36I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000214051

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

99% (67/68)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg1	T	C	9: 54,529,866 (GRCm39)	E247G	possibly damaging	Het
Adgra3	A	G	5: 50,118,096 (GRCm39)	F1151L	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Aldh4a1	A	C	4: 139,375,612 (GRCm39)		probably benign	Het
Anln	A	T	9: 22,264,077 (GRCm39)		probably null	Het
Aste1	T	C	9: 105,282,253 (GRCm39)	S74P	probably damaging	Het
Atp6v0e2	G	A	6: 48,517,051 (GRCm39)	R77H	probably benign	Het
Brpf1	A	G	6: 113,296,902 (GRCm39)	D962G	possibly damaging	Het
Btbd2	T	C	10: 80,482,253 (GRCm39)	D249G	probably damaging	Het
Catsper3	T	C	13: 55,955,989 (GRCm39)		probably null	Het
Cfap43	A	G	19: 47,885,811 (GRCm39)	L268P	probably damaging	Het
Cftr	T	C	6: 18,255,413 (GRCm39)	V540A	probably benign	Het
Col22a1	C	T	15: 71,881,255 (GRCm39)	G32D	probably damaging	Het
Col5a2	G	T	1: 45,432,241 (GRCm39)	P804Q	probably benign	Het
Cyp2d41-ps	A	G	15: 82,662,981 (GRCm39)		noncoding transcript	Het
Cyp39a1	T	G	17: 44,057,429 (GRCm39)	L423V	possibly damaging	Het
Elmo1	T	G	13: 20,748,607 (GRCm39)	V484G	probably benign	Het
Eps8	C	A	6: 137,467,288 (GRCm39)	Q656H	probably damaging	Het
Eps8	T	C	6: 137,467,289 (GRCm39)	Q656R	possibly damaging	Het
Fshb	T	C	2: 106,887,854 (GRCm39)	D55G	possibly damaging	Het
Garin1a	G	T	6: 29,281,221 (GRCm39)		probably benign	Het
H3c4	T	A	13: 23,760,304 (GRCm39)	L110Q	probably damaging	Het
Herc1	C	A	9: 66,355,786 (GRCm39)	Q2346K	probably damaging	Het
Htr3b	T	C	9: 48,856,815 (GRCm39)	D221G	probably benign	Het
Ift74	T	A	4: 94,550,833 (GRCm39)	D328E	probably benign	Het
Kif21b	A	T	1: 136,072,363 (GRCm39)	K23M	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lipc	T	A	9: 70,705,673 (GRCm39)	E470V	probably benign	Het
Lrrc4	G	T	6: 28,830,142 (GRCm39)	T68K	probably damaging	Het
Lrrc63	T	A	14: 75,322,322 (GRCm39)	H594L	possibly damaging	Het
Mfsd14a	A	T	3: 116,442,150 (GRCm39)		probably benign	Het
Mob2	T	C	7: 141,563,274 (GRCm39)		probably null	Het
Nckap5	T	A	1: 126,150,410 (GRCm39)	H105L	possibly damaging	Het
Ngef	C	A	1: 87,437,090 (GRCm39)	G133*	probably null	Het
Or14j2	T	G	17: 37,886,111 (GRCm39)	I68L	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2t1	T	A	14: 14,328,462 (GRCm38)	M117K	probably damaging	Het
Or5b120	G	T	19: 13,479,748 (GRCm39)	V14F	possibly damaging	Het
Or5g23	T	C	2: 85,438,791 (GRCm39)	I154M	probably benign	Het
Pard3	A	G	8: 127,800,040 (GRCm39)		probably null	Het
Pgm2	C	T	5: 64,263,175 (GRCm39)	A274V	possibly damaging	Het
Ppp1r9a	T	A	6: 5,156,177 (GRCm39)	S1144R	probably damaging	Het
Pramel23	A	C	4: 143,424,632 (GRCm39)	C270W	possibly damaging	Het
Prkcq	C	T	2: 11,304,227 (GRCm39)	P590L	probably damaging	Het
Psmd13	T	A	7: 140,474,374 (GRCm39)		probably null	Het
Rab3gap1	T	A	1: 127,816,931 (GRCm39)	D63E	probably benign	Het
Rag2	C	A	2: 101,461,085 (GRCm39)	T465K	probably damaging	Het
Rnase6	A	G	14: 51,367,670 (GRCm39)	M21V	unknown	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Ryr2	A	T	13: 11,653,316 (GRCm39)		probably null	Het
Sash1	T	G	10: 8,615,989 (GRCm39)	R624S	probably damaging	Het
Slc1a2	A	G	2: 102,586,460 (GRCm39)	I355V	probably benign	Het
Srrm2	T	C	17: 24,036,358 (GRCm39)	S1097P	probably benign	Het
Sugct	C	T	13: 17,497,861 (GRCm39)	A271T	probably damaging	Het
Tdrd7	T	C	4: 46,034,350 (GRCm39)	V1065A	probably damaging	Het
Tmprss6	T	A	15: 78,338,389 (GRCm39)	Y307F	probably damaging	Het
Tram1	T	C	1: 13,642,126 (GRCm39)	N216S	probably benign	Het
Ttk	T	C	9: 83,721,394 (GRCm39)	V93A	probably benign	Het
Ubr4	A	G	4: 139,195,408 (GRCm39)	Y1210C	probably damaging	Het
Wdr7	A	G	18: 63,871,937 (GRCm39)	K364E	probably benign	Het
Xrcc2	G	T	5: 25,897,656 (GRCm39)	H98N	probably benign	Het
Zdhhc11	A	G	13: 74,113,688 (GRCm39)	I77V	probably benign	Het
Zfp54	C	T	17: 21,654,442 (GRCm39)	S312L	probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	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
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'- TCCAGCATAAAAGGTATTCCCTG -3'
(R):5'- CTCTCCATCGTGAAACCAGAAG -3'

Sequencing Primer
(F):5'- GGTATTCCCTGTACCTTTAACAAAG -3'
(R):5'- TCCATCGTGAAACCAGAAGAGACTG -3'

Posted On

2016-07-06