Mutagenetix > Incidental Mutation

Incidental Mutation 'R2355:Or6c209'

246882

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

040337-MU

Accession Numbers

Essential gene?

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

Stock #

R2355 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129482999-129483934 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 129483711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 238 (C238Y)

Ref Sequence

ENSEMBL: ENSMUSP00000150406 (fasta)

Gene Model

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

AlphaFold

Q8VGI7

Predicted Effect

probably benign
Transcript: ENSMUST00000071126
AA Change: C238Y

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000071126
Gene: ENSMUSG00000094734
AA Change: C238Y

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 benign
Transcript: ENSMUST00000213820
AA Change: C238Y

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000214182
AA Change: C238Y

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000216446
AA Change: C238Y

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000217364
AA Change: C238Y

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.5%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	CGG	CG	5: 124,215,368 (GRCm39)		probably null	Het
Ahcyl1	A	G	3: 107,577,533 (GRCm39)	S296P	probably damaging	Het
Alas1	A	G	9: 106,113,673 (GRCm39)	V524A	probably damaging	Het
Amn	C	A	12: 111,238,246 (GRCm39)	D53E	probably damaging	Het
Bbof1	A	G	12: 84,470,223 (GRCm39)	E33G	probably damaging	Het
Ccdc149	T	C	5: 52,578,114 (GRCm39)	E106G	probably damaging	Het
Ceacam5	T	A	7: 17,479,560 (GRCm39)	S226T	probably damaging	Het
Chd7	G	T	4: 8,801,350 (GRCm39)	S698I	possibly damaging	Het
Chst2	A	G	9: 95,288,148 (GRCm39)	L66P	probably damaging	Het
Cps1	C	T	1: 67,195,383 (GRCm39)	P268L	probably damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cyp3a59	A	T	5: 146,036,622 (GRCm39)	M275L	probably benign	Het
Ddx41	T	G	13: 55,682,113 (GRCm39)	M232L	probably benign	Het
Dnah6	C	A	6: 73,133,404 (GRCm39)	A1068S	possibly damaging	Het
Dnah7a	T	C	1: 53,621,661 (GRCm39)	I1155V	probably benign	Het
Dop1b	G	A	16: 93,567,565 (GRCm39)	V611I	probably damaging	Het
Epyc	A	G	10: 97,512,875 (GRCm39)	Y243C	probably damaging	Het
Fam171a1	C	T	2: 3,226,570 (GRCm39)	Q568*	probably null	Het
Gm5930	A	G	14: 44,573,918 (GRCm39)	S105P	probably damaging	Het
Golga4	A	G	9: 118,389,810 (GRCm39)	D2032G	probably benign	Het
Gps2	AGTGCT	A	11: 69,806,207 (GRCm39)		probably null	Het
H2-DMb1	A	G	17: 34,376,289 (GRCm39)	Y136C	probably damaging	Het
Il12b	A	G	11: 44,301,039 (GRCm39)	E185G	probably benign	Het
Kat7	A	C	11: 95,182,407 (GRCm39)	I231R	probably benign	Het
Kcmf1	A	T	6: 72,827,466 (GRCm39)	I58N	probably damaging	Het
Lmf2	A	T	15: 89,235,966 (GRCm39)	V646E	possibly damaging	Het
Lmo7	A	G	14: 102,126,121 (GRCm39)	Q409R	probably damaging	Het
Lmod1	T	A	1: 135,292,253 (GRCm39)	H369Q	probably benign	Het
M1ap	G	A	6: 82,933,484 (GRCm39)	A13T	probably benign	Het
Mapk8ip2	G	T	15: 89,343,168 (GRCm39)	V637L	probably benign	Het
Mettl25	C	A	10: 105,599,316 (GRCm39)	V570L	probably benign	Het
Mfsd1	T	A	3: 67,508,668 (GRCm39)	N449K	probably damaging	Het
Or56a5	A	T	7: 104,793,020 (GRCm39)	M166K	probably benign	Het
Or5b24	T	C	19: 12,912,383 (GRCm39)	S94P	possibly damaging	Het
Or5d18	T	A	2: 87,865,379 (GRCm39)	I35F	probably damaging	Het
Pcdhb5	T	A	18: 37,455,169 (GRCm39)	S516R	probably benign	Het
Plppr3	C	T	10: 79,701,194 (GRCm39)	M549I	possibly damaging	Het
Ppl	A	G	16: 4,912,361 (GRCm39)	V740A	probably benign	Het
Rabgef1	C	T	5: 130,240,928 (GRCm39)	T349M	probably benign	Het
Rad51ap2	T	C	12: 11,507,109 (GRCm39)	C344R	probably benign	Het
Shank2	A	G	7: 143,611,455 (GRCm39)	Q172R	possibly damaging	Het
Smg9	G	A	7: 24,119,546 (GRCm39)		probably null	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Trim42	A	T	9: 97,241,293 (GRCm39)	N646K	probably damaging	Het
Usp32	T	C	11: 84,896,735 (GRCm39)	I1181V	probably benign	Het
Vwa5b1	C	A	4: 138,319,221 (GRCm39)		probably null	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
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'- GGCCTGGAATTCTGTGACTC -3'
(R):5'- GAAAGCTTGCTTTACTTGCTTG -3'

Sequencing Primer
(F):5'- GATGCAGCTCCTCTCCTGAAAATC -3'
(R):5'- TGTTTCTCAGTGCATAAATAAAGGG -3'

Posted On

2014-10-30