Mutagenetix > Incidental Mutation

Incidental Mutation 'R4905:Or6c209'

378116

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

Accession Numbers

Essential gene?

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

Stock #

R4905 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129482999-129483934 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129483792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 265 (V265E)

Ref Sequence

ENSEMBL: ENSMUSP00000150406 (fasta)

Gene Model

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

AlphaFold

Q8VGI7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071126
AA Change: V265E

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000071126
Gene: ENSMUSG00000094734
AA Change: V265E

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

possibly damaging
Transcript: ENSMUST00000213820
AA Change: V265E

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214182
AA Change: V265E

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216446
AA Change: V265E

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217364
AA Change: V265E

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.5%

Validation Efficiency

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
1700017N19Rik	A	T	10: 100,448,680 (GRCm39)		probably null	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Abcc5	A	G	16: 20,218,678 (GRCm39)	S235P	probably damaging	Het
Abcc6	T	C	7: 45,644,649 (GRCm39)	N842S	probably benign	Het
Acbd6	G	A	1: 155,500,669 (GRCm39)	V210I	probably benign	Het
Ahctf1	A	T	1: 179,576,192 (GRCm39)	V2130D	probably damaging	Het
Akap5	A	G	12: 76,375,207 (GRCm39)	E213G	probably damaging	Het
Alyref	T	G	11: 120,486,879 (GRCm39)		probably null	Het
Anapc5	G	T	5: 122,955,973 (GRCm39)	N152K	probably benign	Het
Atp8b2	A	T	3: 89,856,315 (GRCm39)	D416E	probably benign	Het
AW551984	A	T	9: 39,508,454 (GRCm39)	V354E	probably damaging	Het
Bag6	A	G	17: 35,364,162 (GRCm39)	E844G	probably damaging	Het
Bmp1	C	T	14: 70,728,802 (GRCm39)	R590H	probably benign	Het
Ccnh	T	C	13: 85,354,254 (GRCm39)	S233P	possibly damaging	Het
Cdca7	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	2: 72,312,205 (GRCm39)		probably benign	Het
Col6a6	A	G	9: 105,644,623 (GRCm39)	S1222P	probably damaging	Het
Dhfr	G	A	13: 92,502,282 (GRCm39)	G118S	probably damaging	Het
Dnah9	G	A	11: 65,764,950 (GRCm39)	R1414*	probably null	Het
Dnai1	A	G	4: 41,614,269 (GRCm39)	D315G	probably benign	Het
Eogt	T	C	6: 97,119,792 (GRCm39)	R139G	probably benign	Het
Fcgbpl1	A	T	7: 27,856,408 (GRCm39)	K2065M	possibly damaging	Het
Fh1	C	T	1: 175,446,639 (GRCm39)	G79E	probably damaging	Het
Gabrg3	A	G	7: 56,374,304 (GRCm39)	Y421H	probably damaging	Het
Glipr1	C	A	10: 111,821,545 (GRCm39)	R219L	probably damaging	Het
Gm1123	T	C	9: 98,891,369 (GRCm39)	D360G	probably benign	Het
Ift81	C	T	5: 122,729,142 (GRCm39)		probably null	Het
Itsn2	A	G	12: 4,684,583 (GRCm39)		probably benign	Het
Kri1	A	T	9: 21,198,998 (GRCm39)	H55Q	probably benign	Het
Mcidas	C	T	13: 113,134,038 (GRCm39)	T174M	possibly damaging	Het
Mcidas	C	A	13: 113,130,951 (GRCm39)	A92E	possibly damaging	Het
Mmp25	C	A	17: 23,863,022 (GRCm39)	G130*	probably null	Het
Myh11	G	A	16: 14,068,387 (GRCm39)	T211M	probably benign	Het
Myo10	A	G	15: 25,800,298 (GRCm39)	D1458G	probably damaging	Het
Ncf4	A	G	15: 78,139,104 (GRCm39)	T154A	probably damaging	Het
Nfatc4	T	C	14: 56,068,039 (GRCm39)	I620T	probably benign	Het
Nos3	A	T	5: 24,572,329 (GRCm39)	Y134F	probably benign	Het
Nup50l	T	A	6: 96,142,911 (GRCm39)	R44S	possibly damaging	Het
Or13c3	T	C	4: 52,855,613 (GRCm39)	N300S	probably damaging	Het
Or51a6	A	T	7: 102,604,721 (GRCm39)	I36N	probably damaging	Het
Or5b106	C	A	19: 13,123,541 (GRCm39)	A161S	probably benign	Het
Pax9	G	T	12: 56,743,411 (GRCm39)	R19S	probably damaging	Het
Pcdha9	T	C	18: 37,131,945 (GRCm39)	I338T	probably damaging	Het
Plxnb2	G	T	15: 89,041,614 (GRCm39)	T1730K	probably damaging	Het
Rac1	A	G	5: 143,502,907 (GRCm39)		probably null	Het
Samsn1	G	T	16: 75,673,353 (GRCm39)	F174L	possibly damaging	Het
Scaf1	G	A	7: 44,662,129 (GRCm39)	T86M	probably damaging	Het
Smc1b	A	G	15: 84,950,428 (GRCm39)	Y1199H	probably damaging	Het
Svep1	A	G	4: 58,069,308 (GRCm39)	I2826T	probably benign	Het
Tex36	A	G	7: 133,189,182 (GRCm39)	V130A	probably damaging	Het
Tigd5	A	G	15: 75,783,252 (GRCm39)	H538R	probably damaging	Het
Tlr3	C	A	8: 45,852,260 (GRCm39)		probably null	Het
Tubb2b	A	T	13: 34,312,187 (GRCm39)	I202N	probably damaging	Het
Unc13c	A	G	9: 73,587,674 (GRCm39)	V1453A	probably benign	Het
Unc5c	A	T	3: 141,507,071 (GRCm39)	T608S	probably benign	Het
Vrk1	C	A	12: 106,018,087 (GRCm39)	H119N	probably damaging	Het
Wdr53	T	A	16: 32,075,476 (GRCm39)	M227K	probably benign	Het
Xpo4	T	C	14: 57,875,746 (GRCm39)	D129G	possibly damaging	Het
Zcchc4	T	C	5: 52,953,992 (GRCm39)	I224T	probably damaging	Het
Zdhhc1	T	A	8: 106,210,326 (GRCm39)	E30D	probably damaging	Het
Zscan29	C	G	2: 120,991,864 (GRCm39)	R540T	possibly damaging	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
R0545:Or6c209	UTSW	10	129,483,218 (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
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'- GTGCGGTGTTGACATTCATC -3'
(R):5'- CAGGTTGACTGCAAGACTAAAC -3'

Sequencing Primer
(F):5'- GCGGTGTTGACATTCATCATCAC -3'
(R):5'- GGTTGACTGCAAGACTAAACATATTC -3'

Posted On

2016-04-15