Mutagenetix > Incidental Mutation

Incidental Mutation 'R5638:Or6c210'

440501

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

043168-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

R5638 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129495677-129496612 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129495969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 98 (I98K)

Ref Sequence

ENSEMBL: ENSMUSP00000151047 (fasta)

Gene Model

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

AlphaFold

Q8VFH7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000104903
AA Change: I98K

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000100499
Gene: ENSMUSG00000108114
AA Change: I98K

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

possibly damaging
Transcript: ENSMUST00000217094
AA Change: I98K

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.1%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	G	A	10: 76,288,729 (GRCm39)	A96T	probably benign	Het
A930018M24Rik	T	C	14: 51,134,414 (GRCm39)	D76G	possibly damaging	Het
Adamtsl3	A	T	7: 82,260,958 (GRCm39)	R1631W	probably damaging	Het
Alg5	C	T	3: 54,646,254 (GRCm39)	H40Y	probably benign	Het
B3galt1	T	C	2: 67,949,095 (GRCm39)	L270P	probably damaging	Het
Ceacam3	A	G	7: 16,893,860 (GRCm39)	Y457C	probably damaging	Het
Cenpa	A	T	5: 30,830,736 (GRCm39)	R124W	probably damaging	Het
Cfap44	A	G	16: 44,275,894 (GRCm39)	T1385A	possibly damaging	Het
Chd9	A	T	8: 91,738,078 (GRCm39)	H1570L	possibly damaging	Het
Cmtm4	T	C	8: 105,084,356 (GRCm39)	I113V	probably benign	Het
Dmxl1	T	C	18: 50,024,693 (GRCm39)	I1789T	possibly damaging	Het
Dpf3	G	A	12: 83,371,714 (GRCm39)	R174W	probably damaging	Het
Dusp26	T	C	8: 31,584,169 (GRCm39)	L92P	probably damaging	Het
Fndc7	T	A	3: 108,770,208 (GRCm39)	T659S	possibly damaging	Het
Fry	A	G	5: 150,282,546 (GRCm39)	H357R	possibly damaging	Het
G0s2	A	T	1: 192,954,859 (GRCm39)	L75H	probably damaging	Het
Gm5493	A	G	17: 22,969,065 (GRCm39)	T82A	probably benign	Het
Herc2	T	C	7: 55,854,164 (GRCm39)	V3690A	probably benign	Het
Igf2bp3	C	A	6: 49,064,734 (GRCm39)	V537F	probably damaging	Het
Kntc1	C	T	5: 123,956,538 (GRCm39)	R2101W	possibly damaging	Het
Kpna2rt	T	C	17: 90,217,635 (GRCm39)	E37G	probably damaging	Het
Mrgpra6	G	T	7: 46,835,657 (GRCm39)	P255T	probably damaging	Het
Ncor2	A	G	5: 125,125,364 (GRCm39)	V229A	probably benign	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Or7g21	T	A	9: 19,032,676 (GRCm39)	C142S	probably benign	Het
Ppt2	C	A	17: 34,844,823 (GRCm39)	M140I	probably benign	Het
Ppwd1	A	G	13: 104,356,906 (GRCm39)	I203T	probably damaging	Het
Prpf6	A	G	2: 181,287,381 (GRCm39)	T589A	probably benign	Het
Psd4	T	C	2: 24,287,427 (GRCm39)	L453P	probably benign	Het
Ptpn14	A	G	1: 189,519,038 (GRCm39)	T23A	probably damaging	Het
Rxrb	T	C	17: 34,256,381 (GRCm39)	L374P	probably damaging	Het
Scaf4	T	C	16: 90,041,198 (GRCm39)	E710G	unknown	Het
Sik1	C	T	17: 32,069,802 (GRCm39)	V216I	probably damaging	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Slc30a5	T	A	13: 100,950,380 (GRCm39)	K236*	probably null	Het
Slc38a4	A	C	15: 96,910,871 (GRCm39)	S135A	probably damaging	Het
Slc9a1	T	A	4: 133,139,571 (GRCm39)	V263D	probably damaging	Het
Socs2	T	C	10: 95,228,745 (GRCm39)	I168M	unknown	Het
Spag9	C	A	11: 93,959,838 (GRCm39)	D342E	probably damaging	Het
Sspo	T	C	6: 48,469,825 (GRCm39)	S4508P	possibly damaging	Het
Stat5b	C	A	11: 100,675,080 (GRCm39)	E710*	probably null	Het
Stip1	G	A	19: 7,009,883 (GRCm39)	P213L	probably damaging	Het
Tarbp1	A	T	8: 127,177,425 (GRCm39)	L749Q	probably damaging	Het
Thsd7b	T	G	1: 129,523,270 (GRCm39)	S24R	probably benign	Het
Upp2	T	C	2: 58,680,107 (GRCm39)	V293A	probably damaging	Het
Vmn2r65	C	T	7: 84,590,047 (GRCm39)	C623Y	probably damaging	Het
Vps54	T	C	11: 21,258,799 (GRCm39)	V742A	probably damaging	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
R3876:Or6c210	UTSW	10	129,496,143 (GRCm39)	missense	probably benign	0.39
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
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'- ACGTGCTGAGTATGACTGGG -3'
(R):5'- AGAATTCCAGCTTGAGGCCC -3'

Sequencing Primer
(F):5'- GGAACCTCACGATCATATCCCTTAC -3'
(R):5'- TTGAGGCCCAGGCTAAGTG -3'

Posted On

2016-11-08