Mutagenetix > Incidental Mutation

Incidental Mutation 'R1633:Or2c1'

172945

Institutional Source

Beutler Lab

Gene Symbol

Or2c1

Ensembl Gene

ENSMUSG00000059043

Gene Name

olfactory receptor family 2 subfamily C member 1

Synonyms

GA_x54KRFPKG5P-348087-349025, Olfr15, MOR256-17, OR3

MMRRC Submission

039670-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R1633 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3656839-3657777 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 3657396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 186 (K186N)

Ref Sequence

ENSEMBL: ENSMUSP00000150757 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080917] [ENSMUST00000214238] [ENSMUST00000214590]

AlphaFold

P23275

Predicted Effect

probably damaging
Transcript: ENSMUST00000080917
AA Change: K186N

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

SMART Domains

Protein: ENSMUSP00000079720
Gene: ENSMUSG00000059043
AA Change: K186N

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srv	25	301	2.7e-8	PFAM
Pfam:7tm_4	31	307	1.3e-52	PFAM
Pfam:7tm_1	41	290	9.8e-30	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214238
AA Change: K186N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000214590
AA Change: K186N

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

Meta Mutation Damage Score

0.1617

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 93.9%
20x: 83.9%

Validation Efficiency

94% (68/72)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	C	T	1: 127,681,592 (GRCm39)	A185V	probably benign	Het
Acsl6	T	C	11: 54,219,224 (GRCm39)		probably benign	Het
Arel1	A	G	12: 84,973,057 (GRCm39)	F580S	probably damaging	Het
Arhgef19	T	C	4: 140,965,871 (GRCm39)		probably benign	Het
Bpifb3	T	A	2: 153,764,504 (GRCm39)	L132Q	probably damaging	Het
Cacna2d1	T	A	5: 16,525,114 (GRCm39)	D516E	probably damaging	Het
Ccar1	T	C	10: 62,586,793 (GRCm39)	R882G	unknown	Het
Cep162	T	C	9: 87,085,736 (GRCm39)	E1196G	probably benign	Het
Cpt1b	T	C	15: 89,303,018 (GRCm39)	T649A	probably damaging	Het
Cttnbp2	A	T	6: 18,435,166 (GRCm39)	S231T	probably damaging	Het
Dock8	A	G	19: 25,028,927 (GRCm39)	T44A	probably benign	Het
Edrf1	T	C	7: 133,253,869 (GRCm39)	S536P	probably damaging	Het
Eif5	T	A	12: 111,506,721 (GRCm39)	N104K	probably damaging	Het
Enpp3	T	C	10: 24,671,680 (GRCm39)	Y438C	probably damaging	Het
Ess2	A	G	16: 17,727,831 (GRCm39)	V116A	probably benign	Het
Galnt4	T	C	10: 98,945,814 (GRCm39)	V513A	possibly damaging	Het
Gdpd5	T	C	7: 99,097,720 (GRCm39)	I172T	probably benign	Het
Ggt7	C	T	2: 155,344,608 (GRCm39)	G245D	probably damaging	Het
Gm5884	A	T	6: 128,623,028 (GRCm39)		noncoding transcript	Het
Herc2	G	A	7: 55,879,117 (GRCm39)	G4669R	probably null	Het
Hydin	T	A	8: 111,233,614 (GRCm39)	D1817E	probably benign	Het
Igf2r	A	C	17: 12,945,196 (GRCm39)	N359K	probably benign	Het
Itgb4	T	C	11: 115,898,586 (GRCm39)	F1722L	probably damaging	Het
Itih3	T	A	14: 30,639,355 (GRCm39)	E406V	possibly damaging	Het
Lamc2	A	T	1: 153,017,444 (GRCm39)	C514*	probably null	Het
Mepe	G	T	5: 104,485,540 (GRCm39)	V227F	probably benign	Het
Nadk	C	T	4: 155,661,642 (GRCm39)	T56I	probably damaging	Het
Nedd4	G	A	9: 72,578,539 (GRCm39)	V84I	possibly damaging	Het
Nipal3	C	A	4: 135,174,659 (GRCm39)	R364L	probably benign	Het
Nkx2-9	T	C	12: 56,659,766 (GRCm39)	R27G	probably benign	Het
Noc2l	T	A	4: 156,329,750 (GRCm39)	S600T	probably benign	Het
Or1l4b	T	A	2: 37,036,983 (GRCm39)	I253N	probably damaging	Het
Or1o3	T	A	17: 37,574,553 (GRCm39)	M1L	probably benign	Het
Pax6	A	T	2: 105,522,063 (GRCm39)	E240V	probably damaging	Het
Pdilt	T	G	7: 119,087,217 (GRCm39)	T478P	probably damaging	Het
Phldb1	T	A	9: 44,629,619 (GRCm39)	I25F	probably damaging	Het
Rad50	C	T	11: 53,583,686 (GRCm39)	R365Q	probably benign	Het
Rdh10	A	G	1: 16,198,420 (GRCm39)	E186G	possibly damaging	Het
Rdh12	A	T	12: 79,265,498 (GRCm39)	E224V	probably damaging	Het
Reck	T	C	4: 43,922,964 (GRCm39)	V413A	possibly damaging	Het
Scn8a	A	G	15: 100,927,696 (GRCm39)	I1392V	probably benign	Het
Simc1	G	A	13: 54,673,044 (GRCm39)	G464D	probably benign	Het
Srf	A	T	17: 46,862,534 (GRCm39)	V318E	probably damaging	Het
Stab1	T	C	14: 30,872,337 (GRCm39)		probably null	Het
Stk3	T	C	15: 34,959,206 (GRCm39)	D322G	probably damaging	Het
Stxbp4	A	G	11: 90,430,986 (GRCm39)		probably benign	Het
Sult2a1	A	G	7: 13,535,351 (GRCm39)	I234T	probably benign	Het
Syne1	A	G	10: 5,299,388 (GRCm39)	F956L	probably damaging	Het
Tasor2	A	T	13: 3,631,771 (GRCm39)	I910N	possibly damaging	Het
Thsd7a	G	T	6: 12,471,103 (GRCm39)	S505*	probably null	Het
Tmem63a	T	A	1: 180,776,391 (GRCm39)	V67E	probably damaging	Het
Tram2	A	T	1: 21,074,146 (GRCm39)	V264E	probably damaging	Het
Trpv5	A	T	6: 41,652,854 (GRCm39)	C106*	probably null	Het
Tspyl5	T	A	15: 33,686,791 (GRCm39)	K385*	probably null	Het
Vezt	T	A	10: 93,820,138 (GRCm39)	Q409L	probably damaging	Het
Vmn2r79	T	C	7: 86,687,042 (GRCm39)	C808R	possibly damaging	Het
Wdfy3	A	C	5: 102,129,414 (GRCm39)	V4G	probably damaging	Het
Wdr95	A	T	5: 149,516,637 (GRCm39)	I493F	probably damaging	Het
Zfhx4	A	T	3: 5,465,473 (GRCm39)	N1877I	probably damaging	Het
Zfp180	A	G	7: 23,804,226 (GRCm39)	D215G	probably benign	Het
Zfp442	A	T	2: 150,250,260 (GRCm39)	Y490*	probably null	Het
Zfp804b	A	G	5: 7,229,513 (GRCm39)		probably benign	Het

Other mutations in Or2c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01973:Or2c1	APN	16	3,657,641 (GRCm39)	missense	probably damaging	0.99
IGL02444:Or2c1	APN	16	3,657,551 (GRCm39)	missense	probably damaging	1.00
IGL02516:Or2c1	APN	16	3,657,200 (GRCm39)	missense	probably damaging	1.00
IGL02941:Or2c1	APN	16	3,657,680 (GRCm39)	missense	possibly damaging	0.64
PIT4812001:Or2c1	UTSW	16	3,657,394 (GRCm39)	nonsense	probably null
R0380:Or2c1	UTSW	16	3,656,849 (GRCm39)	missense	probably benign
R1542:Or2c1	UTSW	16	3,657,696 (GRCm39)	missense	probably damaging	1.00
R1574:Or2c1	UTSW	16	3,657,521 (GRCm39)	missense	probably damaging	0.99
R1574:Or2c1	UTSW	16	3,657,521 (GRCm39)	missense	probably damaging	0.99
R4207:Or2c1	UTSW	16	3,657,434 (GRCm39)	missense	probably damaging	1.00
R4632:Or2c1	UTSW	16	3,656,951 (GRCm39)	missense	probably damaging	1.00
R4965:Or2c1	UTSW	16	3,657,434 (GRCm39)	missense	probably damaging	1.00
R5014:Or2c1	UTSW	16	3,656,912 (GRCm39)	missense	probably benign	0.01
R6575:Or2c1	UTSW	16	3,656,894 (GRCm39)	missense	probably benign	0.00
R7367:Or2c1	UTSW	16	3,657,166 (GRCm39)	missense	probably damaging	0.99
R7523:Or2c1	UTSW	16	3,657,563 (GRCm39)	missense	probably benign
R7697:Or2c1	UTSW	16	3,657,430 (GRCm39)	missense	probably damaging	0.96
R7876:Or2c1	UTSW	16	3,656,658 (GRCm39)	splice site	probably null
R9536:Or2c1	UTSW	16	3,657,438 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- ATGACCGTCATGAATCCTCGCCTC -3'
(R):5'- TGCTCTTAGCTGGAAGCAGATACCC -3'

Sequencing Primer
(F):5'- GAATCCTCGCCTCTGCTGG -3'
(R):5'- CTGGAAGCAGATACCCATAGATCG -3'

Posted On

2014-04-24