Mutagenetix > Incidental Mutation

Incidental Mutation 'R0545:Or6c209'

44771

Institutional Source

Beutler Lab

Gene Symbol

Or6c209

Ensembl Gene

ENSMUSG00000094734

Gene Name

olfactory receptor family 6 subfamily C member 209

Synonyms

GA_x6K02T2PULF-11325750-11326685, MOR114-2, Olfr799

MMRRC Submission

038737-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R0545 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129482999-129483934 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129483218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 74 (C74S)

Ref Sequence

ENSEMBL: ENSMUSP00000150406 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071126] [ENSMUST00000213820] [ENSMUST00000214182] [ENSMUST00000216446] [ENSMUST00000217364]

AlphaFold

Q8VGI7

Predicted Effect

probably damaging
Transcript: ENSMUST00000071126
AA Change: C74S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071126
Gene: ENSMUSG00000094734
AA Change: C74S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	305	6e-46	PFAM
Pfam:7TM_GPCR_Srsx	32	302	6e-7	PFAM
Pfam:7tm_1	38	287	7.7e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213820
AA Change: C74S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214182
AA Change: C74S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216446
AA Change: C74S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217364
AA Change: C74S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.4398

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 94.0%

Validation Efficiency

99% (66/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	C	T	2: 19,547,187 (GRCm39)	R76H	probably damaging	Het
Adnp2	T	C	18: 80,172,616 (GRCm39)	I598V	probably benign	Het
Ago3	T	C	4: 126,311,025 (GRCm39)	N63D	probably damaging	Het
Alkbh7	C	T	17: 57,306,012 (GRCm39)	R138*	probably null	Het
Atp6ap1l	T	C	13: 91,031,782 (GRCm39)	H300R	probably benign	Het
BC051076	C	T	5: 88,111,349 (GRCm39)		noncoding transcript	Het
Bltp1	G	A	3: 37,041,839 (GRCm39)		probably benign	Het
Bpifb9a	T	A	2: 154,103,870 (GRCm39)	C104*	probably null	Het
Cacna2d2	T	C	9: 107,402,422 (GRCm39)	L826P	probably damaging	Het
Car5b	G	A	X: 162,762,297 (GRCm39)	R282C	probably damaging	Het
Ccdc88c	T	C	12: 100,913,447 (GRCm39)	D526G	probably damaging	Het
Cdh23	T	A	10: 60,167,070 (GRCm39)	T1861S	probably benign	Het
Ces2f	A	C	8: 105,676,668 (GRCm39)	M121L	possibly damaging	Het
Cfap58	G	A	19: 47,929,536 (GRCm39)		probably benign	Het
Chpf2	T	C	5: 24,795,322 (GRCm39)	S282P	possibly damaging	Het
Cluap1	C	T	16: 3,751,636 (GRCm39)	R332W	probably damaging	Het
Cma2	A	T	14: 56,210,570 (GRCm39)	M86L	probably benign	Het
Cog6	A	T	3: 52,903,496 (GRCm39)	M134K	probably damaging	Het
Col1a1	A	G	11: 94,842,420 (GRCm39)	D1446G	unknown	Het
Cpne8	T	A	15: 90,381,278 (GRCm39)	D512V	probably damaging	Het
Ctnna2	T	A	6: 77,582,165 (GRCm39)	N352I	probably damaging	Het
Cyp2c69	A	C	19: 39,875,105 (GRCm39)	L16R	probably damaging	Het
Dysf	T	C	6: 84,076,443 (GRCm39)	S603P	probably damaging	Het
Epha5	A	G	5: 84,215,217 (GRCm39)		probably null	Het
Ercc3	T	C	18: 32,378,955 (GRCm39)	S270P	probably damaging	Het
F10	T	A	8: 13,098,249 (GRCm39)	C151S	probably damaging	Het
Gpr180	T	G	14: 118,397,458 (GRCm39)	H317Q	possibly damaging	Het
Gstp2	T	C	19: 4,091,633 (GRCm39)	E32G	possibly damaging	Het
Ikzf5	T	C	7: 130,994,229 (GRCm39)	T133A	possibly damaging	Het
Itch	G	T	2: 155,024,218 (GRCm39)	G274*	probably null	Het
Jarid2	T	A	13: 45,056,307 (GRCm39)	N365K	probably benign	Het
Lama3	T	A	18: 12,694,758 (GRCm39)	S1295T	possibly damaging	Het
Lipc	A	G	9: 70,719,987 (GRCm39)	L255P	probably damaging	Het
Lrrc38	A	G	4: 143,077,328 (GRCm39)	D197G	probably benign	Het
Mfap2	A	G	4: 140,741,496 (GRCm39)		probably benign	Het
Mfhas1	A	G	8: 36,056,202 (GRCm39)	K226E	probably damaging	Het
Morc1	A	G	16: 48,386,020 (GRCm39)	R548G	probably benign	Het
Mrgprb5	T	C	7: 47,818,633 (GRCm39)	N34S	probably benign	Het
Mroh4	T	C	15: 74,497,276 (GRCm39)	T182A	probably benign	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Myo5a	T	C	9: 75,074,319 (GRCm39)	F743L	possibly damaging	Het
Notch4	A	C	17: 34,802,407 (GRCm39)	D1276A	probably damaging	Het
Or1e34	A	T	11: 73,778,843 (GRCm39)	Y118*	probably null	Het
Or3a10	A	G	11: 73,935,873 (GRCm39)	C76R	possibly damaging	Het
Or6d15	T	A	6: 116,559,617 (GRCm39)	I97L	probably benign	Het
Plin4	T	A	17: 56,413,567 (GRCm39)	T353S	probably damaging	Het
Ppp1r9a	A	G	6: 5,115,357 (GRCm39)	T827A	probably benign	Het
Prlr	C	T	15: 10,317,652 (GRCm39)	T40I	probably damaging	Het
Psme3	T	C	11: 101,210,730 (GRCm39)		probably benign	Het
Pygb	A	T	2: 150,657,626 (GRCm39)	D363V	probably benign	Het
Rsph6a	C	T	7: 18,788,871 (GRCm39)	Q68*	probably null	Het
Serpini2	A	G	3: 75,165,445 (GRCm39)	V178A	probably benign	Het
Sh2d2a	T	C	3: 87,759,195 (GRCm39)		probably benign	Het
Skint7	A	C	4: 111,837,395 (GRCm39)	M58L	probably benign	Het
Slco3a1	G	T	7: 73,970,301 (GRCm39)	Y435*	probably null	Het
Stk17b	T	C	1: 53,801,742 (GRCm39)		probably benign	Het
Tinag	T	A	9: 76,938,992 (GRCm39)	H162L	possibly damaging	Het
Ttc21a	T	A	9: 119,787,865 (GRCm39)	L811Q	probably damaging	Het
Ttc41	A	T	10: 86,594,961 (GRCm39)	M912L	probably benign	Het
Vmn2r98	G	T	17: 19,273,875 (GRCm39)	V41F	probably benign	Het
Washc5	C	T	15: 59,213,942 (GRCm39)	C838Y	possibly damaging	Het
Wrnip1	A	G	13: 32,990,796 (GRCm39)	T352A	probably damaging	Het
Zan	A	C	5: 137,394,439 (GRCm39)	C4467G	unknown	Het
Zc3h7a	T	C	16: 10,970,197 (GRCm39)		probably benign	Het
Zfp729a	C	A	13: 67,768,345 (GRCm39)	C628F	probably benign	Het

Other mutations in Or6c209

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Or6c209	APN	10	129,483,306 (GRCm39)	missense	probably benign	0.09
IGL01079:Or6c209	APN	10	129,483,243 (GRCm39)	missense	possibly damaging	0.79
IGL01095:Or6c209	APN	10	129,483,498 (GRCm39)	missense	probably benign	0.00
R0080:Or6c209	UTSW	10	129,483,522 (GRCm39)	missense	probably benign	0.00
R0082:Or6c209	UTSW	10	129,483,522 (GRCm39)	missense	probably benign	0.00
R0268:Or6c209	UTSW	10	129,483,045 (GRCm39)	missense	possibly damaging	0.94
R0310:Or6c209	UTSW	10	129,483,600 (GRCm39)	missense	probably damaging	1.00
R0315:Or6c209	UTSW	10	129,483,366 (GRCm39)	missense	probably damaging	1.00
R1257:Or6c209	UTSW	10	129,483,413 (GRCm39)	nonsense	probably null
R2355:Or6c209	UTSW	10	129,483,711 (GRCm39)	missense	probably benign	0.02
R4905:Or6c209	UTSW	10	129,483,792 (GRCm39)	missense	possibly damaging	0.88
R5706:Or6c209	UTSW	10	129,483,960 (GRCm39)	splice site	probably null
R5961:Or6c209	UTSW	10	129,483,723 (GRCm39)	missense	possibly damaging	0.58
R6233:Or6c209	UTSW	10	129,483,165 (GRCm39)	missense	probably benign	0.01
R6843:Or6c209	UTSW	10	129,483,048 (GRCm39)	missense	possibly damaging	0.86
R7426:Or6c209	UTSW	10	129,483,027 (GRCm39)	missense	probably damaging	1.00
R7507:Or6c209	UTSW	10	129,483,366 (GRCm39)	missense	probably damaging	1.00
R7871:Or6c209	UTSW	10	129,483,281 (GRCm39)	missense	probably benign
R8315:Or6c209	UTSW	10	129,483,522 (GRCm39)	missense	probably benign	0.00
R9153:Or6c209	UTSW	10	129,483,306 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- GGTCTGACAGATGACATTAGGCTGC -3'
(R):5'- TCAGGAGAGGAGCTGCATCACAAC -3'

Sequencing Primer
(F):5'- GATGACATTAGGCTGCAAACTC -3'
(R):5'- TATCTGAGTCACAGAATTCCAGGC -3'

Posted On

2013-06-11