Mutagenetix > Incidental Mutation

Incidental Mutation 'R7824:Or6c5c'

602078

Institutional Source

Beutler Lab

Gene Symbol

Or6c5c

Ensembl Gene

ENSMUSG00000096497

Gene Name

olfactory receptor family 6 subfamily C member 5C

Synonyms

MOR111-10, GA_x6K02T2PULF-11141498-11142436, Olfr787

MMRRC Submission

045878-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R7824 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129297809-129299485 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129298665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 40 (N40S)

Ref Sequence

ENSEMBL: ENSMUSP00000149391 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077836] [ENSMUST00000213329]

AlphaFold

Q7TRI1

Predicted Effect

probably damaging
Transcript: ENSMUST00000077836
AA Change: N40S

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

SMART Domains

Protein: ENSMUSP00000077005
Gene: ENSMUSG00000096497
AA Change: N40S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	4e-49	PFAM
Pfam:7tm_1	39	288	2.1e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213329
AA Change: N40S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (65/65)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol7a	T	C	15: 77,273,275 (GRCm39)	R396G	probably damaging	Het
Arhgap40	A	T	2: 158,376,666 (GRCm39)	R267S	probably damaging	Het
Asb5	A	C	8: 55,037,827 (GRCm39)	H173P		Het
Atp6v0a2	A	G	5: 124,779,443 (GRCm39)	E186G	probably damaging	Het
Bbs2	A	T	8: 94,816,388 (GRCm39)		probably null	Het
Bub1b	T	G	2: 118,457,448 (GRCm39)		probably null	Het
Capn7	A	G	14: 31,074,367 (GRCm39)	T257A	probably benign	Het
Chrna6	T	C	8: 27,897,392 (GRCm39)	I162V	probably damaging	Het
Cldn6	T	A	17: 23,900,581 (GRCm39)	C182S	probably damaging	Het
Cyp2f2	G	A	7: 26,828,678 (GRCm39)	V183I	probably benign	Het
Cysltr2	A	G	14: 73,267,203 (GRCm39)	I169T	probably benign	Het
Ddx11	T	C	17: 66,437,543 (GRCm39)		probably null	Het
Efhc1	A	T	1: 21,049,685 (GRCm39)	Y515F	probably damaging	Het
Farsb	T	C	1: 78,445,936 (GRCm39)	N148D	probably benign	Het
Fmnl2	C	T	2: 52,963,692 (GRCm39)	L275F	unknown	Het
Gfpt2	T	G	11: 49,715,268 (GRCm39)	I421R	probably damaging	Het
Gm8297	A	G	14: 16,167,939 (GRCm39)	N193S	possibly damaging	Het
Hic1	C	T	11: 75,057,042 (GRCm39)	V616M	possibly damaging	Het
Ica1l	T	G	1: 60,047,029 (GRCm39)	M241L	probably benign	Het
Ighg3	A	T	12: 113,323,426 (GRCm39)	D283E		Het
Ing1	A	G	8: 11,611,814 (GRCm39)	E178G	probably benign	Het
Ism2	A	C	12: 87,326,634 (GRCm39)	V435G	probably damaging	Het
Klhdc2	A	G	12: 69,354,002 (GRCm39)	H271R	probably damaging	Het
Lama1	T	A	17: 68,111,468 (GRCm39)	S2240T		Het
Lrp2	T	A	2: 69,331,883 (GRCm39)	E1624V	possibly damaging	Het
Map3k21	C	G	8: 126,637,702 (GRCm39)	P96R	probably benign	Het
Mfge8	G	T	7: 78,795,135 (GRCm39)		probably null	Het
Mical2	T	A	7: 112,006,844 (GRCm39)	Y588N	probably damaging	Het
Mrps15	A	T	4: 125,945,170 (GRCm39)	N119I	probably damaging	Het
Mybpc2	G	A	7: 44,154,284 (GRCm39)		probably null	Het
Myo9a	T	A	9: 59,767,392 (GRCm39)	H865Q	probably damaging	Het
Odf4	A	T	11: 68,812,898 (GRCm39)	S253R	probably benign	Het
Ovch2	A	G	7: 107,388,295 (GRCm39)		probably null	Het
Pax8	A	G	2: 24,325,913 (GRCm39)	S324P	possibly damaging	Het
Plau	A	G	14: 20,892,393 (GRCm39)	S393G	probably benign	Het
Primpol	G	T	8: 47,039,459 (GRCm39)	P387Q	probably damaging	Het
Prph2	T	C	17: 47,221,732 (GRCm39)	L37S	possibly damaging	Het
Rapgefl1	A	G	11: 98,741,980 (GRCm39)	N648S	probably damaging	Het
Rin2	T	A	2: 145,703,037 (GRCm39)	S533T	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Setd6	A	T	8: 96,442,866 (GRCm39)	H101L	probably benign	Het
Sez6	T	C	11: 77,865,375 (GRCm39)	S671P	probably damaging	Het
Slc22a3	G	T	17: 12,683,350 (GRCm39)	A171E	probably damaging	Het
Son	T	C	16: 91,453,416 (GRCm39)	L721S	probably damaging	Het
Spata31d1b	A	T	13: 59,865,047 (GRCm39)	R732W	possibly damaging	Het
Speg	T	A	1: 75,360,661 (GRCm39)		probably null	Het
Srd5a3	T	A	5: 76,302,618 (GRCm39)	F328I	probably damaging	Het
Tbc1d2	C	T	4: 46,637,746 (GRCm39)		probably null	Het
Tfap2b	G	A	1: 19,304,531 (GRCm39)	G447D	probably damaging	Het
Thoc3	A	C	13: 54,611,591 (GRCm39)	F232C	probably damaging	Het
Togaram2	T	A	17: 72,011,746 (GRCm39)	M476K	probably benign	Het
Tpgs2	G	T	18: 25,262,922 (GRCm39)	F232L	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Tube1	A	G	10: 39,018,294 (GRCm39)	I124V	probably benign	Het
Ubr5	A	T	15: 37,991,566 (GRCm39)	H1992Q	probably damaging	Het
Utrn	G	A	10: 12,362,354 (GRCm39)	R2660C	probably damaging	Het
Vcan	T	C	13: 89,836,773 (GRCm39)	T2924A	probably damaging	Het
Vmn2r120	T	C	17: 57,832,942 (GRCm39)	Y79C	probably damaging	Het
Vwa8	T	C	14: 79,275,587 (GRCm39)	V790A	probably benign	Het
Vwf	A	G	6: 125,635,778 (GRCm39)	K270E		Het
Zfp874b	A	G	13: 67,622,093 (GRCm39)	F402L	probably benign	Het

Other mutations in Or6c5c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0384:Or6c5c	UTSW	10	129,298,909 (GRCm39)	nonsense	probably null
R1851:Or6c5c	UTSW	10	129,299,370 (GRCm39)	missense	probably damaging	1.00
R2211:Or6c5c	UTSW	10	129,298,809 (GRCm39)	missense	probably damaging	1.00
R3613:Or6c5c	UTSW	10	129,298,937 (GRCm39)	missense	probably benign	0.29
R3701:Or6c5c	UTSW	10	129,298,821 (GRCm39)	missense	probably damaging	1.00
R3702:Or6c5c	UTSW	10	129,298,821 (GRCm39)	missense	probably damaging	1.00
R4496:Or6c5c	UTSW	10	129,299,430 (GRCm39)	missense	possibly damaging	0.93
R5745:Or6c5c	UTSW	10	129,299,307 (GRCm39)	missense	probably damaging	1.00
R6791:Or6c5c	UTSW	10	129,299,023 (GRCm39)	missense	probably benign	0.00
R7190:Or6c5c	UTSW	10	129,298,626 (GRCm39)	missense	probably benign	0.00
R7278:Or6c5c	UTSW	10	129,298,620 (GRCm39)	missense	probably damaging	1.00
R7313:Or6c5c	UTSW	10	129,298,856 (GRCm39)	missense	probably damaging	0.98
R7369:Or6c5c	UTSW	10	129,299,390 (GRCm39)	missense	probably benign
R7851:Or6c5c	UTSW	10	129,299,429 (GRCm39)	missense	probably benign	0.36
R8961:Or6c5c	UTSW	10	129,299,225 (GRCm39)	missense	probably damaging	1.00
R9635:Or6c5c	UTSW	10	129,299,463 (GRCm39)	missense	probably benign	0.00
R9775:Or6c5c	UTSW	10	129,298,677 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGTTCTGAAGAATGCTGCG -3'
(R):5'- ACTGAGCCAAACAGTTGTTATAGG -3'

Sequencing Primer
(F):5'- GATGGTATCATCAGACATACCAATC -3'
(R):5'- GCCAAACAGTTGTTATAGGAAATTG -3'

Posted On

2019-12-03