Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03338:Or6c66b'

417082

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or6c66b

Ensembl Gene

ENSMUSG00000094496

Gene Name

olfactory receptor family 6 subfamily C member 66B

Synonyms

Olfr792, MOR108-2, GA_x6K02T2PULF-11219415-11220350

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL03338

Quality Score

Status

Chromosome

Chromosomal Location

129376408-129377343 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129376925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 173 (D173G)

Ref Sequence

ENSEMBL: ENSMUSP00000149872 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076575] [ENSMUST00000215436]

AlphaFold

Q7TRH9

Predicted Effect

probably damaging
Transcript: ENSMUST00000076575
AA Change: D173G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096707
Gene: ENSMUSG00000094496
AA Change: D173G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	306	1.9e-53	PFAM
Pfam:7tm_1	39	288	4.7e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215436
AA Change: D173G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,744,153 (GRCm39)	V260M	probably damaging	Het
Accsl	T	A	2: 93,686,092 (GRCm39)	H575L	probably benign	Het
Armc3	A	T	2: 19,253,512 (GRCm39)	I218F	possibly damaging	Het
Bora	C	A	14: 99,310,178 (GRCm39)	N502K	probably damaging	Het
Brd4	T	A	17: 32,432,046 (GRCm39)	D606V	probably damaging	Het
Ccdc190	T	A	1: 169,757,544 (GRCm39)	M1K	probably null	Het
Ccl25	T	C	8: 4,399,898 (GRCm39)		probably benign	Het
Cep78	G	T	19: 15,936,987 (GRCm39)	T573K	probably damaging	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Cntn4	C	T	6: 106,632,550 (GRCm39)	H525Y	probably damaging	Het
D630039A03Rik	T	C	4: 57,910,509 (GRCm39)	E101G	probably benign	Het
Dnah2	A	G	11: 69,387,403 (GRCm39)	V941A	probably benign	Het
Exoc6b	A	G	6: 84,821,112 (GRCm39)	I559T	probably damaging	Het
Fmr1	T	C	X: 67,731,942 (GRCm39)		probably null	Het
Ghr	A	T	15: 3,377,024 (GRCm39)	C66S	probably damaging	Het
Hook1	C	A	4: 95,886,929 (GRCm39)		probably benign	Het
Igsf1	T	C	X: 48,876,376 (GRCm39)	T73A	probably benign	Het
Ipo8	T	C	6: 148,701,755 (GRCm39)	K451R	probably benign	Het
Irs1	A	G	1: 82,266,122 (GRCm39)	V698A	probably benign	Het
Kat2a	T	C	11: 100,602,301 (GRCm39)	D151G	probably benign	Het
Lyrm1	A	T	7: 119,513,469 (GRCm39)	Q78L	probably benign	Het
Madd	C	T	2: 90,992,507 (GRCm39)	G1012E	possibly damaging	Het
Mboat1	T	A	13: 30,320,742 (GRCm39)	D31E	probably benign	Het
Myh8	C	A	11: 67,189,172 (GRCm39)	A1116D	probably damaging	Het
Nop2	G	A	6: 125,116,695 (GRCm39)		probably null	Het
Notch1	A	G	2: 26,349,971 (GRCm39)	S2390P	probably benign	Het
Or10ag57	T	G	2: 87,218,470 (GRCm39)	N140K	probably benign	Het
Or52z14	T	A	7: 103,253,615 (GRCm39)	C251*	probably null	Het
Pigg	T	C	5: 108,467,816 (GRCm39)	S272P	probably damaging	Het
Plg	A	G	17: 12,637,959 (GRCm39)	Y795C	probably damaging	Het
Polr3e	A	G	7: 120,536,843 (GRCm39)	K335R	probably benign	Het
Pramel13	T	A	4: 144,121,397 (GRCm39)	Y209F	probably benign	Het
Pramel24	T	C	4: 143,453,312 (GRCm39)	I140T	probably benign	Het
Pramel28	T	C	4: 143,692,411 (GRCm39)	I197V	probably benign	Het
Pramel28	T	A	4: 143,692,608 (GRCm39)	Q131L	probably benign	Het
Prdm4	A	T	10: 85,743,685 (GRCm39)	M190K	possibly damaging	Het
Prex2	T	A	1: 11,210,489 (GRCm39)	F597L	probably benign	Het
Ranbp3l	A	G	15: 9,060,940 (GRCm39)	E403G	probably damaging	Het
Rgmb	C	T	17: 16,027,565 (GRCm39)	A385T	possibly damaging	Het
Scn4a	T	A	11: 106,211,671 (GRCm39)	I1449F	probably damaging	Het
Slc17a9	T	C	2: 180,382,311 (GRCm39)		probably benign	Het
Slc26a2	T	C	18: 61,331,974 (GRCm39)	I486V	probably damaging	Het
Sntn	A	T	14: 13,678,991 (GRCm38)	D55V	probably damaging	Het
Snx25	T	A	8: 46,498,247 (GRCm39)	R595S	probably benign	Het
Spag11b	C	T	8: 19,191,426 (GRCm39)	T33I	probably damaging	Het
Sval2	A	G	6: 41,841,181 (GRCm39)	I81M	probably damaging	Het
Tab2	A	G	10: 7,795,039 (GRCm39)	V481A	probably damaging	Het
Zfp867	G	A	11: 59,355,003 (GRCm39)	Q109*	probably null	Het
Zfp935	T	C	13: 62,602,247 (GRCm39)	T318A	probably benign	Het

Other mutations in Or6c66b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01285:Or6c66b	APN	10	129,376,711 (GRCm39)	missense	probably benign	0.07
IGL01459:Or6c66b	APN	10	129,376,410 (GRCm39)	start codon destroyed	probably null	1.00
IGL02090:Or6c66b	APN	10	129,377,176 (GRCm39)	missense	probably damaging	1.00
R0382:Or6c66b	UTSW	10	129,376,883 (GRCm39)	missense	probably benign	0.01
R1672:Or6c66b	UTSW	10	129,376,561 (GRCm39)	missense	probably benign	0.00
R2285:Or6c66b	UTSW	10	129,376,537 (GRCm39)	missense	probably benign	0.22
R2938:Or6c66b	UTSW	10	129,376,484 (GRCm39)	missense	probably damaging	1.00
R3498:Or6c66b	UTSW	10	129,376,778 (GRCm39)	missense	probably damaging	1.00
R5309:Or6c66b	UTSW	10	129,377,134 (GRCm39)	missense	probably benign	0.01
R5312:Or6c66b	UTSW	10	129,377,134 (GRCm39)	missense	probably benign	0.01
R6004:Or6c66b	UTSW	10	129,376,759 (GRCm39)	missense	probably benign	0.31
R6800:Or6c66b	UTSW	10	129,377,132 (GRCm39)	missense	probably damaging	1.00
R7127:Or6c66b	UTSW	10	129,376,936 (GRCm39)	missense	probably damaging	1.00
R7167:Or6c66b	UTSW	10	129,376,607 (GRCm39)	missense	possibly damaging	0.88
R7763:Or6c66b	UTSW	10	129,377,324 (GRCm39)	missense	probably benign
R7819:Or6c66b	UTSW	10	129,376,562 (GRCm39)	missense	probably benign	0.01
R8104:Or6c66b	UTSW	10	129,376,826 (GRCm39)	missense	probably benign
R8189:Or6c66b	UTSW	10	129,377,122 (GRCm39)	missense	probably damaging	0.99
R8672:Or6c66b	UTSW	10	129,376,596 (GRCm39)	missense	probably damaging	0.99
Z1189:Or6c66b	UTSW	10	129,377,246 (GRCm39)	missense	probably benign	0.44

Posted On

2016-08-02