Mutagenetix > Incidental Mutation

Incidental Mutation 'R5209:Or6c202'

403052

Institutional Source

Beutler Lab

Gene Symbol

Or6c202

Ensembl Gene

ENSMUSG00000061367

Gene Name

olfactory receptor family 6 subfamily C member 202

Synonyms

GA_x6K02T2PULF-10846420-10845467, Olfr771, MOR114-8

MMRRC Submission

042784-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R5209 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128995898-128996851 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 128996801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 17 (D17E)

Ref Sequence

ENSEMBL: ENSMUSP00000151108 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078914] [ENSMUST00000214271]

AlphaFold

Q8VFH6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078914
AA Change: D17E

PolyPhen 2 Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000077948
Gene: ENSMUSG00000061367
AA Change: D17E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	304	8.9e-48	PFAM
Pfam:7tm_1	38	287	3e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214271
AA Change: D17E

PolyPhen 2 Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (57/57)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 119,832,130 (GRCm39)	V500A	probably benign	Het
Abcg4	A	G	9: 44,186,672 (GRCm39)	Y491H	probably damaging	Het
Adgb	C	A	10: 10,274,681 (GRCm39)	V759L	possibly damaging	Het
Adprhl1	T	A	8: 13,292,563 (GRCm39)	K243*	probably null	Het
Arhgap24	T	A	5: 103,040,015 (GRCm39)	D317E	probably benign	Het
Arhgef5	A	T	6: 43,250,634 (GRCm39)	I462F	probably benign	Het
Birc6	A	C	17: 74,977,369 (GRCm39)	N4388T	probably damaging	Het
Btbd18	A	G	2: 84,498,443 (GRCm39)	T694A	possibly damaging	Het
Ces1d	A	T	8: 93,901,816 (GRCm39)		probably benign	Het
Chmp2a	C	A	7: 12,766,601 (GRCm39)	V106F	probably damaging	Het
Cinp	T	C	12: 110,840,494 (GRCm39)	E219G	probably benign	Het
Col5a3	C	T	9: 20,689,939 (GRCm39)		probably benign	Het
Dnhd1	T	G	7: 105,345,667 (GRCm39)	S2271A	probably benign	Het
Epg5	T	A	18: 77,994,497 (GRCm39)	L376H	probably damaging	Het
Fam81a	T	C	9: 70,032,442 (GRCm39)	T17A	probably benign	Het
Fgd2	T	A	17: 29,587,350 (GRCm39)		probably null	Het
Gjc3	C	T	5: 137,955,533 (GRCm39)	V251I	probably benign	Het
Gnaz	T	G	10: 74,827,823 (GRCm39)	F192V	probably benign	Het
Hmgcr	T	C	13: 96,803,020 (GRCm39)		probably benign	Het
Mamdc4	G	T	2: 25,456,935 (GRCm39)	A614E	probably damaging	Het
Mapk8ip2	A	T	15: 89,343,490 (GRCm39)	Q713L	probably damaging	Het
Mettl1	T	C	10: 126,881,203 (GRCm39)	V238A	possibly damaging	Het
Ms4a4c	G	A	19: 11,393,802 (GRCm39)	G74E	probably damaging	Het
Msh3	A	G	13: 92,481,462 (GRCm39)		probably null	Het
Mtmr14	T	A	6: 113,230,736 (GRCm39)	Y113*	probably null	Het
Mylk	T	C	16: 34,742,995 (GRCm39)	L1169P	possibly damaging	Het
Npr3	A	G	15: 11,848,689 (GRCm39)	V426A	possibly damaging	Het
Or12d15	T	C	17: 37,693,721 (GRCm39)	S88P	probably damaging	Het
Or5au1	T	C	14: 52,273,410 (GRCm39)	T53A	probably benign	Het
Or8b1c	T	A	9: 38,384,817 (GRCm39)	M258K	possibly damaging	Het
Pcdhb17	T	C	18: 37,620,514 (GRCm39)	F768S	probably damaging	Het
Piezo2	T	C	18: 63,166,000 (GRCm39)	N2077S	probably damaging	Het
Pkd1l2	G	A	8: 117,783,181 (GRCm39)	P713L	probably benign	Het
Primpol	T	C	8: 47,043,295 (GRCm39)	T333A	probably benign	Het
Pth2r	A	T	1: 65,427,856 (GRCm39)	T510S	probably benign	Het
Ptprr	A	T	10: 115,998,514 (GRCm39)	E208V	probably damaging	Het
Rag1	T	C	2: 101,474,560 (GRCm39)	Y194C	probably benign	Het
Reep5	A	T	18: 34,490,293 (GRCm39)		probably null	Het
Rexo5	T	A	7: 119,433,522 (GRCm39)	Y493*	probably null	Het
Rgs9	T	C	11: 109,130,420 (GRCm39)		probably null	Het
Rps6ka1	A	T	4: 133,593,129 (GRCm39)	V218D	probably damaging	Het
Satb1	A	T	17: 52,116,235 (GRCm39)	M16K	probably benign	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slfn14	A	G	11: 83,170,459 (GRCm39)	F395S	possibly damaging	Het
Spata31h1	T	C	10: 82,119,652 (GRCm39)	T4453A	possibly damaging	Het
Sptbn5	T	A	2: 119,902,483 (GRCm39)	I82F	probably benign	Het
Stam	T	A	2: 14,151,158 (GRCm39)	I505K	probably benign	Het
Tesk2	G	A	4: 116,581,895 (GRCm39)		probably benign	Het
Trappc12	T	C	12: 28,787,793 (GRCm39)	K430R	probably benign	Het
Trmo	T	C	4: 46,387,740 (GRCm39)	N34D	probably damaging	Het
Ubr2	C	A	17: 47,279,350 (GRCm39)	C686F	probably damaging	Het
Vdac1	C	T	11: 52,267,279 (GRCm39)	T60I	probably damaging	Het
Zfp652	G	C	11: 95,654,491 (GRCm39)	R478P	possibly damaging	Het

Other mutations in Or6c202

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02341:Or6c202	APN	10	128,996,302 (GRCm39)	missense	probably benign	0.30
IGL02366:Or6c202	APN	10	128,996,494 (GRCm39)	missense	probably damaging	1.00
IGL02947:Or6c202	APN	10	128,996,439 (GRCm39)	missense	probably damaging	1.00
R0040:Or6c202	UTSW	10	128,996,608 (GRCm39)	missense	probably benign	0.10
R0081:Or6c202	UTSW	10	128,996,707 (GRCm39)	missense	possibly damaging	0.55
R1179:Or6c202	UTSW	10	128,995,927 (GRCm39)	missense	probably benign	0.00
R1328:Or6c202	UTSW	10	128,996,293 (GRCm39)	missense	possibly damaging	0.54
R1701:Or6c202	UTSW	10	128,995,974 (GRCm39)	missense	probably damaging	1.00
R4470:Or6c202	UTSW	10	128,996,383 (GRCm39)	missense	probably benign	0.16
R4814:Or6c202	UTSW	10	128,996,245 (GRCm39)	missense	possibly damaging	0.77
R5106:Or6c202	UTSW	10	128,996,106 (GRCm39)	missense	probably damaging	0.99
R5109:Or6c202	UTSW	10	128,996,106 (GRCm39)	missense	probably damaging	0.99
R5646:Or6c202	UTSW	10	128,996,706 (GRCm39)	missense	possibly damaging	0.55
R6114:Or6c202	UTSW	10	128,996,202 (GRCm39)	missense	probably benign
R6133:Or6c202	UTSW	10	128,996,752 (GRCm39)	missense	possibly damaging	0.55
R6879:Or6c202	UTSW	10	128,996,848 (GRCm39)	missense	probably benign	0.04
R7358:Or6c202	UTSW	10	128,995,939 (GRCm39)	missense	probably benign
R7426:Or6c202	UTSW	10	128,996,620 (GRCm39)	missense	possibly damaging	0.67
R7699:Or6c202	UTSW	10	128,995,924 (GRCm39)	missense	probably benign
R7700:Or6c202	UTSW	10	128,995,924 (GRCm39)	missense	probably benign
R8232:Or6c202	UTSW	10	128,996,097 (GRCm39)	missense	probably damaging	1.00
R8695:Or6c202	UTSW	10	128,996,233 (GRCm39)	missense	probably damaging	0.99
R8885:Or6c202	UTSW	10	128,996,334 (GRCm39)	missense	probably benign	0.00
R8959:Or6c202	UTSW	10	128,996,484 (GRCm39)	missense	probably damaging	1.00
R9338:Or6c202	UTSW	10	128,996,610 (GRCm39)	missense	probably benign	0.02
R9497:Or6c202	UTSW	10	128,996,464 (GRCm39)	missense	probably benign	0.01
Z1177:Or6c202	UTSW	10	128,996,271 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- ATTGACCTGTCTCCGGTTG -3'
(R):5'- ATCTTCCACTTGCAGAAGAAACTAC -3'

Sequencing Primer
(F):5'- CCGGTTGCTATGTTGTACAAATATCG -3'
(R):5'- CTTGCAGAAGAAACTACACAGG -3'

Posted On

2016-07-22