Mutagenetix > Incidental Mutation

Incidental Mutation 'R7497:Or52s19'

581132

Institutional Source

Beutler Lab

Gene Symbol

Or52s19

Ensembl Gene

ENSMUSG00000109951

Gene Name

olfactory receptor family 52 subfamily S member 19

Synonyms

Olfr601, MOR24-3, GA_x6K02T2PBJ9-6068534-6067590

MMRRC Submission

045570-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R7497 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103007431-103008420 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103008219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 61 (M61V)

Ref Sequence

ENSEMBL: ENSMUSP00000147592 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080474] [ENSMUST00000210431] [ENSMUST00000214110] [ENSMUST00000217416]

AlphaFold

A2RS33

Predicted Effect

probably damaging
Transcript: ENSMUST00000080474
AA Change: M61V

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000079328
Gene: ENSMUSG00000109951
AA Change: M61V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	6.6e-102	PFAM
Pfam:7TM_GPCR_Srsx	37	187	1.2e-10	PFAM
Pfam:7tm_1	43	294	2.2e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000210431
AA Change: M61V

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214110
AA Change: M61V

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217416
AA Change: M61V

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (70/70)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	A	15: 91,075,379 (GRCm39)	I145F	probably benign	Het
Acvr2b	T	A	9: 119,262,352 (GRCm39)	V455E	probably benign	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Agap2	T	C	10: 126,926,834 (GRCm39)	V977A	probably damaging	Het
Aph1b	A	C	9: 66,701,401 (GRCm39)	S79A	probably damaging	Het
Atm	G	A	9: 53,423,191 (GRCm39)	S645L	probably benign	Het
Cdh11	T	C	8: 103,400,456 (GRCm39)	R171G	probably benign	Het
Ces2f	T	A	8: 105,681,330 (GRCm39)	D556E	probably benign	Het
Cfap210	A	C	2: 69,588,792 (GRCm39)	N439K	probably benign	Het
Cyp26b1	C	A	6: 84,553,964 (GRCm39)	V218L	possibly damaging	Het
Diaph1	T	C	18: 38,028,353 (GRCm39)		probably null	Het
Dock1	A	G	7: 134,367,003 (GRCm39)	I482V	probably benign	Het
Dok4	A	T	8: 95,594,053 (GRCm39)	D47E	possibly damaging	Het
Dqx1	T	A	6: 83,036,028 (GRCm39)	L120Q	probably damaging	Het
Duxf3	A	T	10: 58,066,558 (GRCm39)	V157E	probably damaging	Het
Efcab3	T	C	11: 104,653,516 (GRCm39)		probably null	Het
Eif2a	C	A	3: 58,456,102 (GRCm39)	P367Q	probably damaging	Het
Elp2	C	T	18: 24,744,985 (GRCm39)	R102C	probably damaging	Het
Erich2	T	C	2: 70,364,666 (GRCm39)	S347P	probably damaging	Het
Fgfr3	GGACCTCTCCGTG	GG	5: 33,892,766 (GRCm39)		probably null	Het
Flacc1	T	A	1: 58,717,467 (GRCm39)	D148V	probably damaging	Het
Gadl1	A	T	9: 115,903,155 (GRCm39)	I495L	probably benign	Het
Gcnt4	A	G	13: 97,083,468 (GRCm39)	T255A	possibly damaging	Het
Gm10972	A	G	3: 94,550,887 (GRCm39)	K21E	unknown	Het
Gm57859	T	A	11: 113,583,223 (GRCm39)	W517R	probably damaging	Het
Gm7361	C	A	5: 26,466,188 (GRCm39)	H183Q	probably benign	Het
Gp2	C	T	7: 119,053,829 (GRCm39)	C44Y	probably damaging	Het
Hcar2	C	T	5: 124,003,249 (GRCm39)	V85I	probably benign	Het
Hira	T	C	16: 18,770,829 (GRCm39)	V822A	probably damaging	Het
Ighv1-5	T	A	12: 114,477,156 (GRCm39)	T49S	probably damaging	Het
Ints1	C	T	5: 139,754,731 (GRCm39)	V603M	probably damaging	Het
Kdm2a	A	C	19: 4,374,404 (GRCm39)	L909R	probably damaging	Het
Klkb1	T	A	8: 45,747,827 (GRCm39)		probably benign	Het
Krit1	A	G	5: 3,862,349 (GRCm39)	H168R	possibly damaging	Het
Map3k21	A	T	8: 126,654,340 (GRCm39)	E386D	probably damaging	Het
Muc16	C	T	9: 18,556,385 (GRCm39)	E3303K	unknown	Het
Muc5b	T	G	7: 141,415,250 (GRCm39)	V2732G	possibly damaging	Het
Myo5a	T	C	9: 75,104,983 (GRCm39)	L189P		Het
Nlrc5	T	C	8: 95,248,598 (GRCm39)	L1740S	probably damaging	Het
Nolc1	A	G	19: 46,071,257 (GRCm39)	K402R	probably benign	Het
Or4b1b	T	A	2: 90,112,098 (GRCm39)	T274S	possibly damaging	Het
Or4k15	T	A	14: 50,364,952 (GRCm39)	L306Q	probably benign	Het
Or8u8	T	C	2: 86,012,417 (GRCm39)	I13V	probably benign	Het
Pnma8b	A	G	7: 16,678,874 (GRCm39)		probably benign	Het
Pnpt1	A	T	11: 29,080,860 (GRCm39)	M35L	probably benign	Het
Postn	A	G	3: 54,270,091 (GRCm39)	K57E	probably damaging	Het
Ppp1r9a	A	C	6: 4,905,775 (GRCm39)	D110A	probably damaging	Het
Pptc7	G	A	5: 122,422,942 (GRCm39)	V71M	possibly damaging	Het
Prdm11	T	A	2: 92,843,052 (GRCm39)	I136F	possibly damaging	Het
Rfc1	A	G	5: 65,436,841 (GRCm39)	L613P	probably damaging	Het
Ryr3	T	C	2: 112,560,818 (GRCm39)	D2981G	probably benign	Het
Sbf2	C	A	7: 110,213,923 (GRCm39)	E16*	probably null	Het
Scara3	T	C	14: 66,168,651 (GRCm39)	E322G	probably damaging	Het
Sema5b	T	A	16: 35,481,700 (GRCm39)	C893S	probably damaging	Het
Setdb1	T	C	3: 95,249,139 (GRCm39)	D323G	probably damaging	Het
Slc19a3	T	C	1: 82,991,649 (GRCm39)	Y453C	probably damaging	Het
Snx5	T	C	2: 144,099,894 (GRCm39)	K137E	probably damaging	Het
Taar8c	G	A	10: 23,977,116 (GRCm39)	T232I	probably benign	Het
Taok2	G	A	7: 126,474,050 (GRCm39)	T352I	probably damaging	Het
Ttc3	C	A	16: 94,219,541 (GRCm39)	R489S	possibly damaging	Het
Usp12	A	T	5: 146,689,264 (GRCm39)		probably null	Het
Usp16	T	A	16: 87,263,174 (GRCm39)	C125*	probably null	Het
Vmn2r106	C	T	17: 20,488,201 (GRCm39)	E733K	probably damaging	Het
Vps13b	T	A	15: 35,876,843 (GRCm39)	I2832K	probably benign	Het
Vps13c	A	G	9: 67,747,761 (GRCm39)	Y18C	probably damaging	Het
Zfp160	T	A	17: 21,246,455 (GRCm39)	I335K	probably benign	Het
Zfp788	A	T	7: 41,298,275 (GRCm39)	I304F	possibly damaging	Het

Other mutations in Or52s19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02825:Or52s19	APN	7	103,007,568 (GRCm39)	missense	probably benign	0.00
IGL03093:Or52s19	APN	7	103,007,446 (GRCm39)	utr 3 prime	probably benign
R0147:Or52s19	UTSW	7	103,007,613 (GRCm39)	missense	possibly damaging	0.67
R0436:Or52s19	UTSW	7	103,007,948 (GRCm39)	missense	possibly damaging	0.69
R1486:Or52s19	UTSW	7	103,008,201 (GRCm39)	missense	possibly damaging	0.93
R2943:Or52s19	UTSW	7	103,007,658 (GRCm39)	missense	probably damaging	1.00
R4155:Or52s19	UTSW	7	103,008,363 (GRCm39)	missense	probably benign	0.00
R5335:Or52s19	UTSW	7	103,007,729 (GRCm39)	missense	probably damaging	1.00
R5378:Or52s19	UTSW	7	103,007,652 (GRCm39)	missense	probably damaging	1.00
R5840:Or52s19	UTSW	7	103,007,576 (GRCm39)	missense	probably damaging	1.00
R6961:Or52s19	UTSW	7	103,007,789 (GRCm39)	missense	possibly damaging	0.69
R7082:Or52s19	UTSW	7	103,007,495 (GRCm39)	missense	possibly damaging	0.84
R8154:Or52s19	UTSW	7	103,007,763 (GRCm39)	missense	probably benign
R9226:Or52s19	UTSW	7	103,008,092 (GRCm39)	missense	probably damaging	0.99
R9355:Or52s19	UTSW	7	103,008,125 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAAGAAGCCAGATTCCATGGC -3'
(R):5'- ATGCATGCTGTACAGGGAAGAC -3'

Sequencing Primer
(F):5'- GCCAGATTCCATGGCAGTGAAAC -3'
(R):5'- CATCATGGGGCCAGCTAATAAGTC -3'

Posted On

2019-10-17