Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02245:Or6c6c'

286131

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or6c6c

Ensembl Gene

ENSMUSG00000095401

Gene Name

olfactory receptor family 6 subfamily C member 6C

Synonyms

GA_x6K02T2PULF-11383575-11384519, MOR110-7, Olfr804

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

IGL02245

Quality Score

Status

Chromosome

Chromosomal Location

129540749-129541693 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129541608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 287 (I287N)

Ref Sequence

ENSEMBL: ENSMUSP00000150132 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077312] [ENSMUST00000213331]

AlphaFold

Q7TRH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000077312
AA Change: I287N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000076540
Gene: ENSMUSG00000095401
AA Change: I287N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	6e-48	PFAM
Pfam:7tm_1	39	288	3.3e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213331
AA Change: I287N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216747

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,381,772 (GRCm39)	I1398V	probably benign	Het
Abca5	G	A	11: 110,188,995 (GRCm39)	Q821*	probably null	Het
Bcl9	A	T	3: 97,116,009 (GRCm39)	L895Q	probably damaging	Het
Cpne7	A	G	8: 123,844,357 (GRCm39)	D41G	probably damaging	Het
Daxx	A	G	17: 34,131,351 (GRCm39)		probably benign	Het
Dbx2	A	G	15: 95,522,628 (GRCm39)	Y360H	probably damaging	Het
Dpy19l2	T	C	9: 24,607,321 (GRCm39)	T47A	probably benign	Het
Ephb3	T	C	16: 21,040,174 (GRCm39)	V512A	probably benign	Het
Exoc2	T	C	13: 31,090,842 (GRCm39)	D254G	probably benign	Het
Gtpbp1	G	T	15: 79,575,127 (GRCm39)	R7L	probably benign	Het
Gucy2c	A	T	6: 136,706,201 (GRCm39)	I500N	probably benign	Het
H2ac6	A	T	13: 23,867,783 (GRCm39)	Y40N	probably damaging	Het
H2ac6	G	T	13: 23,867,784 (GRCm39)	N39K	possibly damaging	Het
Hormad2	T	C	11: 4,358,580 (GRCm39)		probably benign	Het
Impg2	A	G	16: 56,089,445 (GRCm39)	Q1130R	probably damaging	Het
Itga4	T	A	2: 79,150,903 (GRCm39)	D836E	probably benign	Het
Loxhd1	A	T	18: 77,427,797 (GRCm39)	T456S	possibly damaging	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Map1b	T	C	13: 99,568,036 (GRCm39)	T1562A	unknown	Het
Mre11a	C	T	9: 14,726,572 (GRCm39)		probably benign	Het
Myh1	A	C	11: 67,102,313 (GRCm39)	E868A	possibly damaging	Het
Nlrp4e	T	G	7: 23,020,300 (GRCm39)	S262R	probably damaging	Het
Nlrp9a	C	T	7: 26,257,318 (GRCm39)	T223I	probably benign	Het
Nosip	A	G	7: 44,723,466 (GRCm39)	D44G	probably benign	Het
Nr6a1	C	T	2: 38,630,565 (GRCm39)	M217I	probably benign	Het
Numa1	A	G	7: 101,649,601 (GRCm39)	T1111A	probably benign	Het
Pms1	A	G	1: 53,246,519 (GRCm39)	L340P	probably damaging	Het
Prmt7	T	C	8: 106,963,937 (GRCm39)	V277A	probably benign	Het
Pxmp4	T	C	2: 154,429,870 (GRCm39)	Y173C	probably damaging	Het
Rbm11	G	T	16: 75,389,896 (GRCm39)	V21L	possibly damaging	Het
Rims1	A	G	1: 22,416,712 (GRCm39)	S1123P	probably damaging	Het
Rnf220	C	T	4: 117,156,734 (GRCm39)		probably benign	Het
Rnf41	T	G	10: 128,273,196 (GRCm39)	*123G	probably null	Het
Samhd1	C	T	2: 156,952,475 (GRCm39)	D426N	possibly damaging	Het
Scn10a	A	G	9: 119,501,218 (GRCm39)	W189R	probably damaging	Het
Slco1a6	A	G	6: 142,055,150 (GRCm39)	F265L	probably damaging	Het
Spag16	A	G	1: 69,897,661 (GRCm39)	D137G	probably benign	Het
Srsf12	G	A	4: 33,209,103 (GRCm39)		probably benign	Het
Suclg2	A	G	6: 95,572,722 (GRCm39)	I81T	possibly damaging	Het
Tmc1	C	T	19: 20,776,556 (GRCm39)	R601H	probably damaging	Het
Trim33	T	C	3: 103,254,086 (GRCm39)		probably null	Het
Vit	A	G	17: 78,932,480 (GRCm39)	D529G	probably damaging	Het
Wbp1l	C	T	19: 46,643,057 (GRCm39)	H353Y	possibly damaging	Het
Wdr70	A	T	15: 8,075,965 (GRCm39)	V170D	possibly damaging	Het
Ythdc2	T	A	18: 44,995,751 (GRCm39)	I947N	possibly damaging	Het
Zfp280b	T	C	10: 75,875,197 (GRCm39)	S359P	probably benign	Het
Zfp936	T	C	7: 42,836,722 (GRCm39)		probably null	Het
Zscan4d	T	A	7: 10,896,716 (GRCm39)	Y218F	probably benign	Het

Other mutations in Or6c6c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01613:Or6c6c	APN	10	129,541,492 (GRCm39)	missense	probably benign	0.01
IGL02041:Or6c6c	APN	10	129,541,104 (GRCm39)	missense	probably damaging	1.00
IGL02341:Or6c6c	APN	10	129,541,358 (GRCm39)	missense	probably damaging	0.99
IGL02433:Or6c6c	APN	10	129,541,445 (GRCm39)	missense	probably benign	0.01
authen	UTSW	10	129,541,668 (GRCm39)	missense	probably benign	0.00
R0111:Or6c6c	UTSW	10	129,541,146 (GRCm39)	missense	probably damaging	1.00
R0309:Or6c6c	UTSW	10	129,541,008 (GRCm39)	missense	probably benign	0.38
R0326:Or6c6c	UTSW	10	129,541,638 (GRCm39)	missense	possibly damaging	0.69
R0374:Or6c6c	UTSW	10	129,541,516 (GRCm39)	missense	probably benign	0.00
R1573:Or6c6c	UTSW	10	129,541,487 (GRCm39)	missense	probably damaging	1.00
R1663:Or6c6c	UTSW	10	129,541,160 (GRCm39)	missense	probably benign	0.44
R1778:Or6c6c	UTSW	10	129,541,574 (GRCm39)	missense	probably benign	0.01
R1789:Or6c6c	UTSW	10	129,541,476 (GRCm39)	missense	possibly damaging	0.82
R1906:Or6c6c	UTSW	10	129,541,365 (GRCm39)	missense	probably benign	0.00
R2108:Or6c6c	UTSW	10	129,541,490 (GRCm39)	missense	probably benign
R2211:Or6c6c	UTSW	10	129,541,320 (GRCm39)	missense	probably benign
R2432:Or6c6c	UTSW	10	129,540,794 (GRCm39)	missense	possibly damaging	0.91
R2902:Or6c6c	UTSW	10	129,541,320 (GRCm39)	missense	probably benign
R4114:Or6c6c	UTSW	10	129,541,668 (GRCm39)	missense	probably benign	0.00
R5149:Or6c6c	UTSW	10	129,541,377 (GRCm39)	missense	probably benign	0.00
R5153:Or6c6c	UTSW	10	129,541,026 (GRCm39)	missense	probably benign	0.05
R5846:Or6c6c	UTSW	10	129,540,756 (GRCm39)	missense	probably damaging	0.99
R6553:Or6c6c	UTSW	10	129,540,932 (GRCm39)	missense	probably benign	0.07
R7676:Or6c6c	UTSW	10	129,541,155 (GRCm39)	missense	possibly damaging	0.63
R8161:Or6c6c	UTSW	10	129,540,753 (GRCm39)	missense	possibly damaging	0.94
R9266:Or6c6c	UTSW	10	129,541,547 (GRCm39)	missense	probably benign	0.17
R9318:Or6c6c	UTSW	10	129,541,283 (GRCm39)	missense	probably benign	0.00
R9334:Or6c6c	UTSW	10	129,541,683 (GRCm39)	missense	probably benign	0.00
R9746:Or6c6c	UTSW	10	129,541,208 (GRCm39)	missense	probably damaging	0.97

Posted On

2015-04-16