Mutagenetix > Incidental Mutation

Incidental Mutation 'R6966:Or6c66'

542011

Institutional Source

Beutler Lab

Gene Symbol

Or6c66

Ensembl Gene

ENSMUSG00000095002

Gene Name

olfactory receptor family 6 subfamily C member 66

Synonyms

GA_x6K02T2PULF-11304679-11303744, MOR108-1, Olfr798

MMRRC Submission

045076-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

R6966 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129460993-129461928 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129461633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 99 (V99A)

Ref Sequence

ENSEMBL: ENSMUSP00000144716 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079810] [ENSMUST00000204979]

AlphaFold

Q7TRH8

Predicted Effect

probably benign
Transcript: ENSMUST00000079810
AA Change: V99A

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000078739
Gene: ENSMUSG00000095002
AA Change: V99A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	309	5e-52	PFAM
Pfam:7tm_1	39	288	2.1e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204979
AA Change: V99A

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000144716
Gene: ENSMUSG00000095002
AA Change: V99A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	309	5e-52	PFAM
Pfam:7tm_1	39	288	2.1e-25	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	G	A	8: 43,974,472 (GRCm39)	R177C	possibly damaging	Het
Adgrb2	CG	C	4: 129,908,155 (GRCm39)		probably null	Het
Bahcc1	G	A	11: 120,173,985 (GRCm39)	V1582M	probably damaging	Het
Baiap2	A	T	11: 119,897,231 (GRCm39)	R529*	probably null	Het
Bcl9l	C	T	9: 44,420,685 (GRCm39)	Q1327*	probably null	Het
Brsk2	T	A	7: 141,538,270 (GRCm39)	C139S	possibly damaging	Het
Catsper3	T	A	13: 55,946,672 (GRCm39)	I123N	probably damaging	Het
Cd84	A	G	1: 171,713,976 (GRCm39)	N325D	possibly damaging	Het
Chid1	T	A	7: 141,076,297 (GRCm39)	Y357F	possibly damaging	Het
Clstn2	A	T	9: 97,408,459 (GRCm39)	Y416*	probably null	Het
Cnot1	A	T	8: 96,451,160 (GRCm39)	L2189Q	probably damaging	Het
Csnk2b	T	A	17: 35,336,758 (GRCm39)	I170L	probably benign	Het
Dnah3	T	C	7: 119,631,977 (GRCm39)	Q1326R	probably damaging	Het
Drd1	T	C	13: 54,207,564 (GRCm39)	I210V	probably damaging	Het
Eef1d	G	T	15: 75,775,558 (GRCm39)	Q34K	probably benign	Het
Fam184a	T	C	10: 53,531,095 (GRCm39)	T760A	probably benign	Het
Fnip1	G	T	11: 54,373,385 (GRCm39)	V199F	probably benign	Het
Glyatl3	T	C	17: 41,215,829 (GRCm39)	K226E	probably damaging	Het
Gm19410	C	T	8: 36,285,127 (GRCm39)	T2093I	possibly damaging	Het
Herc1	A	T	9: 66,318,347 (GRCm39)	E1206D	probably benign	Het
Hs6st1	G	A	1: 36,143,299 (GRCm39)	W411*	probably null	Het
Hsf2	C	A	10: 57,372,080 (GRCm39)	S60R	probably damaging	Het
Hyal5	C	A	6: 24,891,291 (GRCm39)	N368K	probably damaging	Het
Itgb2l	A	T	16: 96,231,843 (GRCm39)	F308I	probably benign	Het
Kdm7a	G	A	6: 39,129,773 (GRCm39)	L468F	probably damaging	Het
Lamp3	A	T	16: 19,518,403 (GRCm39)	L278*	probably null	Het
Ly6c1	A	T	15: 74,917,289 (GRCm39)		probably benign	Het
Mark3	A	G	12: 111,606,458 (GRCm39)	N524D	probably damaging	Het
Met	T	G	6: 17,531,531 (GRCm39)	L603R	possibly damaging	Het
Mical1	A	T	10: 41,355,750 (GRCm39)	Q198L	probably damaging	Het
Nacad	T	A	11: 6,552,634 (GRCm39)	I186F	possibly damaging	Het
Nt5c3b	A	T	11: 100,320,750 (GRCm39)	M257K	probably benign	Het
Nuak2	T	C	1: 132,252,770 (GRCm39)	M108T	possibly damaging	Het
Nub1	T	A	5: 24,894,470 (GRCm39)	Y51N	probably damaging	Het
Nxpe5	T	C	5: 138,237,679 (GRCm39)	S68P	probably damaging	Het
Or10ag58	C	T	2: 87,265,623 (GRCm39)	T264I	probably damaging	Het
Or5d44	A	G	2: 88,141,835 (GRCm39)	S102P	probably benign	Het
Pias3	A	G	3: 96,609,511 (GRCm39)	D276G	probably damaging	Het
Setd7	A	G	3: 51,437,605 (GRCm39)	Y217H	probably damaging	Het
Slc23a1	A	T	18: 35,758,114 (GRCm39)	I142N	probably damaging	Het
Slx4ip	T	C	2: 136,910,144 (GRCm39)	S310P	probably damaging	Het
Tcp11l2	G	A	10: 84,427,133 (GRCm39)	R199Q	possibly damaging	Het
Tgm4	T	A	9: 122,880,207 (GRCm39)	D226E	possibly damaging	Het
Tspyl4	C	A	10: 34,173,673 (GRCm39)	A55E	probably benign	Het
Uap1l1	A	G	2: 25,254,950 (GRCm39)	I146T	probably damaging	Het
Ush2a	G	A	1: 188,308,441 (GRCm39)	G2030D	probably damaging	Het
Uts2r	G	A	11: 121,052,213 (GRCm39)	G359D	possibly damaging	Het
Vwa7	T	C	17: 35,236,072 (GRCm39)	S9P	probably benign	Het
Zbtb16	A	G	9: 48,568,654 (GRCm39)	C604R	probably damaging	Het
Zfp804b	A	G	5: 6,821,615 (GRCm39)	S483P	probably damaging	Het
Zfpm1	G	A	8: 123,058,904 (GRCm39)	A175T	probably damaging	Het

Other mutations in Or6c66

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01093:Or6c66	APN	10	129,461,432 (GRCm39)	missense	probably damaging	1.00
IGL02866:Or6c66	APN	10	129,461,575 (GRCm39)	nonsense	probably null
BB009:Or6c66	UTSW	10	129,461,094 (GRCm39)	missense	probably damaging	0.97
BB019:Or6c66	UTSW	10	129,461,094 (GRCm39)	missense	probably damaging	0.97
R0743:Or6c66	UTSW	10	129,461,712 (GRCm39)	missense	probably benign	0.03
R1163:Or6c66	UTSW	10	129,461,516 (GRCm39)	missense	possibly damaging	0.79
R1192:Or6c66	UTSW	10	129,461,906 (GRCm39)	missense	probably benign
R1863:Or6c66	UTSW	10	129,461,217 (GRCm39)	missense	probably damaging	0.96
R1867:Or6c66	UTSW	10	129,461,621 (GRCm39)	missense	probably damaging	0.99
R2508:Or6c66	UTSW	10	129,461,784 (GRCm39)	missense	probably benign
R4898:Or6c66	UTSW	10	129,461,468 (GRCm39)	missense	probably benign	0.12
R4910:Or6c66	UTSW	10	129,461,676 (GRCm39)	missense	probably damaging	0.98
R4988:Or6c66	UTSW	10	129,461,930 (GRCm39)	splice site	probably null
R5361:Or6c66	UTSW	10	129,461,601 (GRCm39)	missense	probably damaging	1.00
R5382:Or6c66	UTSW	10	129,461,876 (GRCm39)	missense	probably damaging	0.98
R5589:Or6c66	UTSW	10	129,461,319 (GRCm39)	missense	probably damaging	1.00
R5693:Or6c66	UTSW	10	129,461,396 (GRCm39)	missense	probably damaging	0.99
R5790:Or6c66	UTSW	10	129,461,757 (GRCm39)	missense	probably damaging	1.00
R7041:Or6c66	UTSW	10	129,461,603 (GRCm39)	missense	probably damaging	1.00
R7082:Or6c66	UTSW	10	129,461,634 (GRCm39)	missense	probably benign	0.07
R7932:Or6c66	UTSW	10	129,461,094 (GRCm39)	missense	probably damaging	0.97
R7977:Or6c66	UTSW	10	129,461,838 (GRCm39)	missense	probably benign
R7987:Or6c66	UTSW	10	129,461,838 (GRCm39)	missense	probably benign
R8299:Or6c66	UTSW	10	129,461,829 (GRCm39)	missense	probably benign	0.00
R8487:Or6c66	UTSW	10	129,461,114 (GRCm39)	missense	possibly damaging	0.50
R9110:Or6c66	UTSW	10	129,461,820 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- TGTTGGAGTCACAGAAATCCAG -3'
(R):5'- ACTGGAAATCTGACCATTATTACCC -3'

Sequencing Primer
(F):5'- TCCAGTTGAAGGCCCATGATC -3'
(R):5'- GACCATTATTACCCTCACTCTGATAG -3'

Posted On

2018-11-28