Mutagenetix > Incidental Mutation

Incidental Mutation 'R8835:Or52s1'

674091

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

068663-MU

Accession Numbers

Essential gene?

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

Stock #

R8835 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102861069-102862052 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102861928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 287 (I287K)

Ref Sequence

ENSEMBL: ENSMUSP00000095807 (fasta)

Gene Model

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

AlphaFold

Q8VF28

Predicted Effect

probably damaging
Transcript: ENSMUST00000098206
AA Change: I287K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095807
Gene: ENSMUSG00000073955
AA Change: I287K

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 damaging
Transcript: ENSMUST00000210686
AA Change: I276K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000214051

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	C	3: 121,896,433 (GRCm39)	G555A	probably benign	Het
Afmid	A	G	11: 117,718,914 (GRCm39)	K15E	probably benign	Het
Ankfn1	T	C	11: 89,429,379 (GRCm39)	I2V	probably benign	Het
Arhgap21	A	T	2: 20,972,144 (GRCm39)	C26*	probably null	Het
Arhgef38	A	T	3: 132,837,832 (GRCm39)	D699E	unknown	Het
Atxn2	T	C	5: 121,940,248 (GRCm39)	S1008P	possibly damaging	Het
C1rb	A	G	6: 124,552,217 (GRCm39)	K312E	probably benign	Het
Cc2d1b	G	A	4: 108,484,264 (GRCm39)	R424Q	probably damaging	Het
Ccdc27	G	A	4: 154,127,023 (GRCm39)	T13I	unknown	Het
Cdc42bpa	G	T	1: 179,896,916 (GRCm39)	V400F	probably damaging	Het
Cemip	C	A	7: 83,586,651 (GRCm39)	G1301V	probably damaging	Het
Cep170	A	G	1: 176,584,429 (GRCm39)	L650P	probably benign	Het
Cfap100	T	A	6: 90,386,597 (GRCm39)	D222V		Het
Cog8	A	T	8: 107,773,920 (GRCm39)		probably benign	Het
Col4a4	A	G	1: 82,447,313 (GRCm39)	L1279P	unknown	Het
Cyyr1	A	T	16: 85,254,553 (GRCm39)	Y116*	probably null	Het
Dlgap4	A	T	2: 156,587,946 (GRCm39)	S597C	probably damaging	Het
Dpysl5	T	A	5: 30,936,282 (GRCm39)		probably null	Het
Dtl	G	T	1: 191,293,609 (GRCm39)	H189Q	probably damaging	Het
Epha1	A	T	6: 42,342,723 (GRCm39)	N275K	probably benign	Het
Fbxo11	A	G	17: 88,321,874 (GRCm39)	C110R		Het
Fhod1	A	G	8: 106,065,484 (GRCm39)		probably null	Het
Fndc1	A	C	17: 7,958,111 (GRCm39)	F1712C	probably damaging	Het
Gcnt7	G	A	2: 172,295,957 (GRCm39)	T289M	probably damaging	Het
Gm11020	A	T	8: 105,048,293 (GRCm39)	E32V	probably null	Het
Hoxb1	C	T	11: 96,256,627 (GRCm39)		probably benign	Het
Ibtk	G	A	9: 85,619,563 (GRCm39)	L126F	possibly damaging	Het
Il17rb	T	G	14: 29,722,308 (GRCm39)	E241A	possibly damaging	Het
Kdm3b	G	A	18: 34,941,802 (GRCm39)	R631Q	probably damaging	Het
Lnpep	A	T	17: 17,750,118 (GRCm39)	S991T	possibly damaging	Het
Mctp2	T	G	7: 71,852,161 (GRCm39)	E455A	probably benign	Het
Mgat4a	A	T	1: 37,491,372 (GRCm39)	I421N	possibly damaging	Het
Myof	C	A	19: 37,955,547 (GRCm39)	V526L	possibly damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nav2	G	A	7: 49,248,551 (GRCm39)	G2297D	possibly damaging	Het
Nipa2	A	T	7: 55,583,307 (GRCm39)		probably benign	Het
Nkx6-1	G	T	5: 101,811,971 (GRCm39)	P44T	unknown	Het
Nploc4	T	C	11: 120,309,122 (GRCm39)	K160R	possibly damaging	Het
Olfm3	C	A	3: 114,916,061 (GRCm39)	A331D	probably damaging	Het
Or10g6	A	C	9: 39,934,171 (GRCm39)	S161R	possibly damaging	Het
Or1e33	T	A	11: 73,738,702 (GRCm39)	H83L	probably benign	Het
Otof	T	C	5: 30,528,264 (GRCm39)	N1898S	probably benign	Het
Pde1a	G	A	2: 79,708,522 (GRCm39)	L299F	probably damaging	Het
Pole	T	C	5: 110,454,775 (GRCm39)	Y1003H	probably damaging	Het
Ppl	C	G	16: 4,906,854 (GRCm39)	R1147P	probably damaging	Het
Prom1	T	G	5: 44,175,722 (GRCm39)	Y533S	probably damaging	Het
Prrt4	C	A	6: 29,169,986 (GRCm39)	C822F	probably damaging	Het
Prss12	A	C	3: 123,285,201 (GRCm39)	D542A	possibly damaging	Het
Ptrh2	T	C	11: 86,580,412 (GRCm39)	Y10H	probably damaging	Het
Pum1	C	T	4: 130,471,064 (GRCm39)	T439M	probably damaging	Het
Rarb	A	T	14: 16,575,011 (GRCm38)	F2I	probably benign	Het
Rpp21	G	A	17: 36,566,678 (GRCm39)	S127L	probably benign	Het
Scgb1b19	T	G	7: 32,986,948 (GRCm39)	V33G	probably damaging	Het
Smc1b	A	T	15: 85,013,949 (GRCm39)	V74D	possibly damaging	Het
Spint3	T	A	2: 164,411,923 (GRCm39)	K29*	probably null	Het
Spns1	G	A	7: 125,971,593 (GRCm39)	S319F	possibly damaging	Het
Tacc2	T	A	7: 130,228,258 (GRCm39)	W1648R	probably benign	Het
Tbc1d21	C	G	9: 58,273,991 (GRCm39)	V62L	probably damaging	Het
Tectb	A	G	19: 55,172,270 (GRCm39)	N130S	probably benign	Het
Tln2	A	T	9: 67,304,975 (GRCm39)		probably benign	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Tpd52l1	G	T	10: 31,255,314 (GRCm39)	T11K	probably benign	Het
Ttll10	G	T	4: 156,133,055 (GRCm39)	P10T	probably benign	Het
Vmn1r215	A	G	13: 23,260,409 (GRCm39)	I150V	possibly damaging	Het
Zdhhc11	T	A	13: 74,127,411 (GRCm39)	Y263N	probably damaging	Het
Zfp354a	C	T	11: 50,960,628 (GRCm39)	R279*	probably null	Het
Zfp715	A	G	7: 42,948,430 (GRCm39)	I510T		Het
Zfp735	A	T	11: 73,601,692 (GRCm39)	H212L	possibly damaging	Het
Zfpm1	A	G	8: 123,063,772 (GRCm39)	T944A	unknown	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
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
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'- AGCTTACAGCCTCATCGTTG -3'
(R):5'- CATGTCCTAAATTAGGGAAAGGAAC -3'

Sequencing Primer
(F):5'- CAGGCGGAGTAGACTTCATATTGATC -3'
(R):5'- GGGAAAGGAACATACTTAGATTTCAC -3'

Posted On

2021-07-15