Mutagenetix > Incidental Mutation

Incidental Mutation 'R5790:Or6c66'

448288

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

043384-MU

Accession Numbers

Essential gene?

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

Stock #

R5790 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129460993-129461928 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129461757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 58 (Y58H)

Ref Sequence

ENSEMBL: ENSMUSP00000144716 (fasta)

Gene Model

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

AlphaFold

Q7TRH8

Predicted Effect

probably damaging
Transcript: ENSMUST00000079810
AA Change: Y58H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000078739
Gene: ENSMUSG00000095002
AA Change: Y58H

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

noncoding transcript
Transcript: ENSMUST00000203614

Predicted Effect

probably damaging
Transcript: ENSMUST00000204979
AA Change: Y58H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144716
Gene: ENSMUSG00000095002
AA Change: Y58H

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

99% (73/74)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl5	A	T	5: 31,051,702 (GRCm39)	R633*	probably null	Het
Ahnak	T	C	19: 8,992,612 (GRCm39)	V4632A	probably damaging	Het
Asap1	T	A	15: 63,966,114 (GRCm39)	D997V	probably damaging	Het
Atad2	T	C	15: 57,989,990 (GRCm39)	Y162C	probably damaging	Het
Atp2b2	G	T	6: 113,736,270 (GRCm39)	S936R	probably damaging	Het
Bcl11a	T	A	11: 24,113,650 (GRCm39)	L331Q	probably damaging	Het
C6	T	A	15: 4,792,968 (GRCm39)	F358I	probably damaging	Het
Capn15	C	T	17: 26,183,521 (GRCm39)	S386N	probably benign	Het
Ccdc66	G	A	14: 27,222,404 (GRCm39)	T113I	possibly damaging	Het
Cd200	G	T	16: 45,217,621 (GRCm39)	H23Q	possibly damaging	Het
Cdh17	A	G	4: 11,814,945 (GRCm39)		probably null	Het
Ces2b	C	T	8: 105,560,568 (GRCm39)	P128S	probably damaging	Het
Ces3b	A	T	8: 105,819,270 (GRCm39)	Q442L	probably damaging	Het
Chil4	T	C	3: 106,109,894 (GRCm39)	H373R	probably benign	Het
Ciapin1	C	A	8: 95,551,811 (GRCm39)		probably benign	Het
Cnot10	A	C	9: 114,454,985 (GRCm39)		probably null	Het
Cpq	A	G	15: 33,250,143 (GRCm39)	K167E	probably damaging	Het
Dennd4b	T	A	3: 90,184,757 (GRCm39)	D1118E	probably damaging	Het
Dnah8	T	A	17: 31,093,978 (GRCm39)	C4691S	probably damaging	Het
Dnajc1	A	G	2: 18,311,898 (GRCm39)		probably benign	Het
Dnhd1	G	A	7: 105,304,981 (GRCm39)	R341H	probably damaging	Het
Dock10	G	T	1: 80,482,887 (GRCm39)	T2145K	probably benign	Het
Eif3b	T	C	5: 140,427,886 (GRCm39)	V736A	probably benign	Het
Eno1	G	T	4: 150,329,710 (GRCm39)	V195L	probably benign	Het
Ewsr1	C	T	11: 5,032,263 (GRCm39)		probably benign	Het
Fbn2	T	C	18: 58,209,768 (GRCm39)	T1038A	probably benign	Het
Gabrb1	T	C	5: 72,293,827 (GRCm39)	I367T	possibly damaging	Het
Gigyf1	C	T	5: 137,522,517 (GRCm39)		probably benign	Het
Glp2r	T	A	11: 67,655,625 (GRCm39)	Y39F	probably damaging	Het
Gm10036	T	A	18: 15,966,243 (GRCm39)	Y131*	probably null	Het
Gm38706	T	C	6: 130,461,961 (GRCm39)		noncoding transcript	Het
Gna15	G	A	10: 81,345,218 (GRCm39)	R216C	probably damaging	Het
Grin3a	A	G	4: 49,792,717 (GRCm39)	F339L	probably damaging	Het
Grk3	T	G	5: 113,114,842 (GRCm39)	K126T	possibly damaging	Het
Hspa1l	T	C	17: 35,196,216 (GRCm39)	V85A	probably benign	Het
Iqsec1	A	T	6: 90,666,862 (GRCm39)	L525*	probably null	Het
Irx3	T	C	8: 92,526,304 (GRCm39)	T467A	probably benign	Het
Itga2	G	A	13: 115,004,742 (GRCm39)	T530I	probably benign	Het
Lonp2	T	C	8: 87,358,118 (GRCm39)	V113A	probably benign	Het
Msx3	C	T	7: 139,628,866 (GRCm39)	R16H	possibly damaging	Het
Nek3	C	A	8: 22,621,313 (GRCm39)	Q405H	probably damaging	Het
Nek3	T	A	8: 22,621,314 (GRCm39)	Q403L	probably damaging	Het
Or2b6	T	C	13: 21,823,046 (GRCm39)	T216A	probably benign	Het
P4ha1	A	G	10: 59,190,184 (GRCm39)	N367S	probably benign	Het
Padi6	C	A	4: 140,459,569 (GRCm39)	G429C	probably damaging	Het
Pidd1	T	C	7: 141,021,305 (GRCm39)		probably benign	Het
Plekhg5	T	C	4: 152,198,392 (GRCm39)	V847A	probably benign	Het
Polr3e	A	G	7: 120,527,190 (GRCm39)	D56G	probably damaging	Het
Pomt2	T	G	12: 87,174,152 (GRCm39)	N347T	probably damaging	Het
Ppp1r9a	T	C	6: 5,134,363 (GRCm39)		probably benign	Het
Rbm33	A	T	5: 28,544,296 (GRCm39)	D184V	probably damaging	Het
Rims2	A	T	15: 39,544,441 (GRCm39)	T1431S	probably damaging	Het
Saal1	T	C	7: 46,351,352 (GRCm39)	D208G	probably damaging	Het
Sis	T	C	3: 72,835,507 (GRCm39)	I952V	probably benign	Het
Slc30a1	T	A	1: 191,640,997 (GRCm39)	D214E	probably benign	Het
Slc30a8	T	C	15: 52,197,043 (GRCm39)	V318A	possibly damaging	Het
Smarca2	A	G	19: 26,654,124 (GRCm39)	T770A	probably damaging	Het
Sptbn4	T	A	7: 27,065,853 (GRCm39)	H2031L	probably damaging	Het
Ssbp1	A	G	6: 40,457,804 (GRCm39)	S141G	probably benign	Het
Tgm4	A	G	9: 122,890,808 (GRCm39)	E45G	probably damaging	Het
Thra	T	A	11: 98,653,777 (GRCm39)	S203T	probably benign	Het
Tle2	T	C	10: 81,426,149 (GRCm39)	Y763H	probably damaging	Het
Tmem141	T	A	2: 25,511,087 (GRCm39)	I102L	probably benign	Het
Tmem63c	C	T	12: 87,104,410 (GRCm39)	T77I	probably benign	Het
Tspo2	C	A	17: 48,756,047 (GRCm39)		probably null	Het
Ttc19	T	A	11: 62,172,340 (GRCm39)	M1K	probably null	Het
Ucp1	A	G	8: 84,024,520 (GRCm39)	N282D	possibly damaging	Het
Vmn1r33	A	T	6: 66,589,198 (GRCm39)	F119I	probably benign	Het
Vmn2r24	A	T	6: 123,792,499 (GRCm39)	M609L	probably benign	Het
Vwc2l	A	T	1: 70,790,142 (GRCm39)	H146L	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
R6966:Or6c66	UTSW	10	129,461,633 (GRCm39)	missense	probably benign	0.17
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'- CATAGCGGTCATAGGACATAGC -3'
(R):5'- TTTCACAATTACAGACCTGGCAG -3'

Sequencing Primer
(F):5'- CGGTCATAGGACATAGCAGTCAG -3'
(R):5'- TTACAGACCTGGCAGAACAAAAG -3'

Posted On

2016-12-15