Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03365:Or6c208'

420028

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or6c208

Ensembl Gene

ENSMUSG00000094347

Gene Name

olfactory receptor family 6 subfamily C member 208

Synonyms

Olfr784, MOR110-3, GA_x6K02T2PULF-11068246-11069205

Accession Numbers

Essential gene?

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

Stock #

IGL03365

Quality Score

Status

Chromosome

Chromosomal Location

129223504-129224691 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129224108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 202 (V202D)

Ref Sequence

ENSEMBL: ENSMUSP00000149354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082342] [ENSMUST00000214064]

AlphaFold

Q8VFZ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000082342
AA Change: V202D

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000080953
Gene: ENSMUSG00000094347
AA Change: V202D

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	306	3.3e-51	PFAM
Pfam:7tm_1	39	288	3.6e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214064
AA Change: V202D

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

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
1500035N22Rik	T	G	5: 25,202,809 (GRCm39)		probably benign	Het
Adam6a	T	A	12: 113,507,765 (GRCm39)	I46N	possibly damaging	Het
Adipor1	A	G	1: 134,359,380 (GRCm39)	D371G	possibly damaging	Het
Akr1c21	C	T	13: 4,633,851 (GRCm39)	P307S	probably benign	Het
Aoc1l3	A	G	6: 48,965,531 (GRCm39)	D513G	probably damaging	Het
Asxl1	T	A	2: 153,243,674 (GRCm39)	I1408N	probably damaging	Het
Avil	T	C	10: 126,846,852 (GRCm39)	V472A	probably damaging	Het
Bpifa6	C	A	2: 153,831,204 (GRCm39)	Q257K	possibly damaging	Het
Cacna2d4	G	T	6: 119,248,225 (GRCm39)	V380L	probably benign	Het
Clip1	A	C	5: 123,721,649 (GRCm39)	S1111A	probably damaging	Het
Dennd4c	A	G	4: 86,725,663 (GRCm39)		probably null	Het
Dock8	C	T	19: 25,077,048 (GRCm39)	P506L	possibly damaging	Het
Ecsit	A	C	9: 21,987,822 (GRCm39)	H72Q	probably damaging	Het
Eif1b	T	A	9: 120,323,186 (GRCm39)	D15E	probably benign	Het
Enpp1	A	G	10: 24,544,923 (GRCm39)	Y319H	probably damaging	Het
Fat3	T	C	9: 15,907,765 (GRCm39)	N2746D	probably damaging	Het
Fgf20	G	T	8: 40,732,932 (GRCm39)	L115I	possibly damaging	Het
Hip1r	C	T	5: 124,138,230 (GRCm39)	R775W	probably damaging	Het
Hycc1	A	T	5: 24,188,158 (GRCm39)	Y245N	probably benign	Het
Lrp12	A	T	15: 39,735,917 (GRCm39)	S672T	probably benign	Het
Morf4l2	A	G	X: 135,634,464 (GRCm39)	Y255H	probably benign	Het
Mri1	A	G	8: 84,978,262 (GRCm39)	V343A	possibly damaging	Het
Mybphl	T	A	3: 108,272,314 (GRCm39)	M1K	probably null	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Ofd1	C	A	X: 165,175,512 (GRCm39)	V951F	probably damaging	Het
Or4k51	G	T	2: 111,584,772 (GRCm39)	M59I	possibly damaging	Het
Or51r1	G	T	7: 102,227,836 (GRCm39)	V45F	probably benign	Het
Parp12	G	A	6: 39,079,581 (GRCm39)	R310W	probably damaging	Het
Pcdh11x	T	A	X: 119,425,935 (GRCm39)	D1019E	probably benign	Het
Ppp1r9a	T	A	6: 5,110,993 (GRCm39)		probably benign	Het
Ptprz1	T	A	6: 23,030,581 (GRCm39)		probably benign	Het
Qser1	T	A	2: 104,617,344 (GRCm39)	N1156I	probably damaging	Het
Rgs3	T	A	4: 62,607,912 (GRCm39)	D59E	probably benign	Het
Rims2	T	C	15: 39,339,937 (GRCm39)	F917S	probably damaging	Het
Sap30bp	G	A	11: 115,855,078 (GRCm39)	V263M	possibly damaging	Het
Scart2	T	A	7: 139,876,682 (GRCm39)	V691E	probably damaging	Het
Scfd2	G	T	5: 74,691,596 (GRCm39)	H229N	possibly damaging	Het
Sspo	T	C	6: 48,436,349 (GRCm39)	V1233A	possibly damaging	Het
Stam	T	A	2: 14,151,201 (GRCm39)	Y519*	probably null	Het
Synj2	A	G	17: 6,069,679 (GRCm39)	T602A	probably damaging	Het
Tas2r126	C	T	6: 42,412,391 (GRCm39)	A308V	probably benign	Het
Tm4sf20	T	C	1: 82,745,948 (GRCm39)		probably benign	Het
Ttc23	G	A	7: 67,312,085 (GRCm39)		probably benign	Het
Vmn1r90	T	C	7: 14,295,229 (GRCm39)	I290V	probably damaging	Het
Xirp1	A	C	9: 119,847,605 (GRCm39)	L426W	probably damaging	Het
Zgrf1	T	G	3: 127,392,423 (GRCm39)	F430L	possibly damaging	Het

Other mutations in Or6c208

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02162:Or6c208	APN	10	129,223,973 (GRCm39)	missense	probably benign	0.03
IGL03096:Or6c208	APN	10	129,224,318 (GRCm39)	missense	probably damaging	0.96
R0645:Or6c208	UTSW	10	129,224,162 (GRCm39)	missense	possibly damaging	0.88
R1104:Or6c208	UTSW	10	129,224,090 (GRCm39)	missense	probably benign	0.31
R1456:Or6c208	UTSW	10	129,223,652 (GRCm39)	missense	probably damaging	0.98
R1487:Or6c208	UTSW	10	129,224,209 (GRCm39)	missense	probably benign	0.26
R1526:Or6c208	UTSW	10	129,224,176 (GRCm39)	missense	probably benign	0.01
R1860:Or6c208	UTSW	10	129,223,955 (GRCm39)	missense	probably damaging	1.00
R1930:Or6c208	UTSW	10	129,223,745 (GRCm39)	missense	probably benign
R1931:Or6c208	UTSW	10	129,223,745 (GRCm39)	missense	probably benign
R4623:Or6c208	UTSW	10	129,223,915 (GRCm39)	missense	probably benign	0.11
R5385:Or6c208	UTSW	10	129,223,633 (GRCm39)	missense	probably benign	0.05
R5483:Or6c208	UTSW	10	129,223,526 (GRCm39)	missense	probably benign	0.02
R5780:Or6c208	UTSW	10	129,223,939 (GRCm39)	missense	probably damaging	1.00
R6448:Or6c208	UTSW	10	129,224,021 (GRCm39)	missense	probably damaging	1.00
R6956:Or6c208	UTSW	10	129,224,166 (GRCm39)	missense	probably benign	0.04
R7102:Or6c208	UTSW	10	129,224,036 (GRCm39)	missense	probably damaging	0.99
R7584:Or6c208	UTSW	10	129,223,901 (GRCm39)	missense	probably damaging	0.99
R7626:Or6c208	UTSW	10	129,223,726 (GRCm39)	missense	possibly damaging	0.91
R8845:Or6c208	UTSW	10	129,224,065 (GRCm39)	missense	probably damaging	0.96
R8988:Or6c208	UTSW	10	129,224,240 (GRCm39)	missense	probably damaging	0.98

Posted On

2016-08-02