Mutagenetix > Incidental Mutation

Incidental Mutation 'R3876:Or6c210'

276853

Institutional Source

Beutler Lab

Gene Symbol

Or6c210

Ensembl Gene

ENSMUSG00000108114

Gene Name

olfactory receptor family 6 subfamily C member 210

Synonyms

GA_x6K02T2PULF-11338429-11339364, MOR114-7, Olfr800

MMRRC Submission

041606-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.283) question?

Stock #

R3876 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129495677-129496612 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 129496143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 156 (P156L)

Ref Sequence

ENSEMBL: ENSMUSP00000151047 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000104903] [ENSMUST00000217094]

AlphaFold

Q8VFH7

Predicted Effect

probably benign
Transcript: ENSMUST00000104903
AA Change: P156L

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000100499
Gene: ENSMUSG00000108114
AA Change: P156L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	307	7.3e-43	PFAM
Pfam:7tm_1	38	287	6.9e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217094
AA Change: P156L

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (53/53)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	G	A	14: 54,828,857 (GRCm39)	R215*	probably null	Het
Brinp2	C	A	1: 158,074,416 (GRCm39)	L568F	probably damaging	Het
Brip1	T	C	11: 86,043,616 (GRCm39)	Y316C	probably damaging	Het
Cdk5rap2	ATGTG	ATG	4: 70,208,214 (GRCm39)		probably null	Het
Cfap69	G	T	5: 5,634,645 (GRCm39)		probably benign	Het
Chrnb4	T	C	9: 54,951,182 (GRCm39)	E27G	probably damaging	Het
Clec14a	A	G	12: 58,315,430 (GRCm39)	V64A	possibly damaging	Het
Crygs	A	G	16: 22,625,262 (GRCm39)	Y60H	probably damaging	Het
Dpp10	T	A	1: 123,281,216 (GRCm39)	Q611L	probably damaging	Het
Entpd1	T	C	19: 40,725,264 (GRCm39)	L450P	probably damaging	Het
Eogt	G	A	6: 97,097,151 (GRCm39)	S317L	probably damaging	Het
Exosc10	T	A	4: 148,657,376 (GRCm39)	S584T	probably benign	Het
Fam184a	C	T	10: 53,575,157 (GRCm39)	V151I	probably damaging	Het
Fbxo43	A	G	15: 36,152,258 (GRCm39)	V517A	probably damaging	Het
Flii	T	C	11: 60,610,698 (GRCm39)	T533A	possibly damaging	Het
Frmpd1	T	G	4: 45,284,093 (GRCm39)	H971Q	probably benign	Het
Gata3	A	T	2: 9,867,954 (GRCm39)	N333K	probably damaging	Het
Hectd1	A	G	12: 51,815,513 (GRCm39)	S1525P	probably damaging	Het
Ibtk	A	G	9: 85,600,479 (GRCm39)	I816T	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Krt34	T	C	11: 99,931,791 (GRCm39)	T143A	probably benign	Het
Lipn	G	T	19: 34,046,828 (GRCm39)	M43I	probably benign	Het
Lrp1b	A	G	2: 41,335,206 (GRCm39)	C779R	probably damaging	Het
Mios	G	A	6: 8,233,189 (GRCm39)	R779Q	probably damaging	Het
Mme	A	T	3: 63,269,480 (GRCm39)		probably benign	Het
Ncstn	A	G	1: 171,897,640 (GRCm39)	S418P	probably benign	Het
Oprk1	T	A	1: 5,672,884 (GRCm39)	C340*	probably null	Het
Or10d1c	T	A	9: 38,894,166 (GRCm39)	Y58F	probably damaging	Het
Or4c29	T	C	2: 88,739,952 (GRCm39)	T262A	possibly damaging	Het
Or4k39	T	C	2: 111,238,967 (GRCm39)	V69A	possibly damaging	Het
Or6z7	G	A	7: 6,484,131 (GRCm39)	A8V	probably benign	Het
Pald1	T	A	10: 61,183,266 (GRCm39)	N323Y	probably damaging	Het
Pcdhac1	C	A	18: 37,224,945 (GRCm39)	A586E	probably damaging	Het
Pcnx2	C	T	8: 126,614,897 (GRCm39)	A185T	probably benign	Het
Pik3r1	G	A	13: 101,821,465 (GRCm39)	H430Y	probably benign	Het
Polr3b	G	A	10: 84,556,382 (GRCm39)		probably null	Het
Prl8a6	A	T	13: 27,617,015 (GRCm39)	L225*	probably null	Het
Psme4	T	C	11: 30,806,068 (GRCm39)	S89P	probably damaging	Het
Pygl	G	A	12: 70,248,113 (GRCm39)	T250I	probably damaging	Het
Rgs13	T	A	1: 144,016,528 (GRCm39)	K72*	probably null	Het
Ryr2	T	A	13: 11,603,045 (GRCm39)	I4514F	probably damaging	Het
Septin3	A	T	15: 82,170,002 (GRCm39)	D32V	probably damaging	Het
Sfrp2	C	T	3: 83,674,335 (GRCm39)	P163S	possibly damaging	Het
Spata31	A	G	13: 65,068,745 (GRCm39)	T298A	probably benign	Het
Stxbp2	T	C	8: 3,683,369 (GRCm39)		probably null	Het
Syne1	A	T	10: 5,002,345 (GRCm39)	M282K	possibly damaging	Het
Timd2	T	C	11: 46,561,847 (GRCm39)		probably null	Het
Tlr11	G	A	14: 50,600,611 (GRCm39)	V866I	probably benign	Het
Trappc10	T	C	10: 78,056,020 (GRCm39)		probably null	Het
Zfp512b	AG	AGG	2: 181,230,556 (GRCm39)		probably null	Het

Other mutations in Or6c210

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01322:Or6c210	APN	10	129,495,995 (GRCm39)	missense	probably benign	0.26
IGL01915:Or6c210	APN	10	129,496,519 (GRCm39)	missense	probably benign	0.05
IGL02458:Or6c210	APN	10	129,496,475 (GRCm39)	missense	probably benign	0.38
IGL02721:Or6c210	APN	10	129,495,824 (GRCm39)	missense	probably benign
R0032:Or6c210	UTSW	10	129,496,269 (GRCm39)	missense	probably benign	0.05
R0442:Or6c210	UTSW	10	129,495,693 (GRCm39)	missense	probably benign	0.00
R1564:Or6c210	UTSW	10	129,495,884 (GRCm39)	missense	probably benign	0.22
R1580:Or6c210	UTSW	10	129,496,184 (GRCm39)	missense	probably benign	0.10
R1593:Or6c210	UTSW	10	129,496,094 (GRCm39)	nonsense	probably null
R1911:Or6c210	UTSW	10	129,495,981 (GRCm39)	missense	probably benign	0.07
R2001:Or6c210	UTSW	10	129,496,290 (GRCm39)	missense	probably benign	0.02
R2223:Or6c210	UTSW	10	129,495,678 (GRCm39)	start codon destroyed	probably null	1.00
R3884:Or6c210	UTSW	10	129,496,407 (GRCm39)	missense	probably damaging	1.00
R4366:Or6c210	UTSW	10	129,496,400 (GRCm39)	missense	probably benign	0.02
R4689:Or6c210	UTSW	10	129,496,185 (GRCm39)	missense	probably benign	0.01
R4909:Or6c210	UTSW	10	129,496,589 (GRCm39)	missense	probably benign	0.01
R5638:Or6c210	UTSW	10	129,495,969 (GRCm39)	missense	possibly damaging	0.80
R5835:Or6c210	UTSW	10	129,495,803 (GRCm39)	missense	probably benign	0.39
R5838:Or6c210	UTSW	10	129,495,907 (GRCm39)	missense	probably benign	0.41
R6150:Or6c210	UTSW	10	129,495,803 (GRCm39)	missense	probably benign	0.39
R6248:Or6c210	UTSW	10	129,496,532 (GRCm39)	missense	probably benign	0.39
R8094:Or6c210	UTSW	10	129,495,933 (GRCm39)	missense	probably damaging	0.99
R9013:Or6c210	UTSW	10	129,495,702 (GRCm39)	missense	probably damaging	1.00
R9224:Or6c210	UTSW	10	129,496,007 (GRCm39)	missense	probably damaging	1.00
R9390:Or6c210	UTSW	10	129,495,938 (GRCm39)	missense	probably benign	0.01
R9726:Or6c210	UTSW	10	129,495,920 (GRCm39)	missense	possibly damaging	0.67
R9777:Or6c210	UTSW	10	129,495,705 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- ACAACTGCTTGCATTCCCAG -3'
(R):5'- GCAGAAGGAAATCTTAGAATGGTCC -3'

Sequencing Primer
(F):5'- CTTGCATTCCCAGATACTTATACAAC -3'
(R):5'- CACACACAAGGGTCATGA -3'

Posted On

2015-04-06