Mutagenetix > Incidental Mutation

Incidental Mutation 'R7198:Or6c33'

560094

Institutional Source

Beutler Lab

Gene Symbol

Or6c33

Ensembl Gene

ENSMUSG00000048745

Gene Name

olfactory receptor family 6 subfamily C member 33

Synonyms

GA_x6K02T2PULF-11688441-11689379, Olfr820, MOR116-1

MMRRC Submission

045337-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R7198 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129853232-129854170 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129853760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 177 (C177S)

Ref Sequence

ENSEMBL: ENSMUSP00000150464 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059244] [ENSMUST00000214917] [ENSMUST00000215791]

AlphaFold

Q8VFU5

Predicted Effect

probably damaging
Transcript: ENSMUST00000059244
AA Change: C177S

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

SMART Domains

Protein: ENSMUSP00000052995
Gene: ENSMUSG00000048745
AA Change: C177S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1e-47	PFAM
Pfam:7tm_1	39	288	1.8e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214917
AA Change: C177S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000215791
AA Change: C177S

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

Meta Mutation Damage Score

0.8807

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (62/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	C	T	11: 109,969,481 (GRCm39)	S365N	probably damaging	Het
Baiap3	G	A	17: 25,462,814 (GRCm39)	R1075C	probably benign	Het
Baz2b	A	G	2: 59,792,550 (GRCm39)	L526P	probably benign	Het
Bbs1	A	T	19: 4,945,043 (GRCm39)	L376Q	probably damaging	Het
Bcl9	T	A	3: 97,112,511 (GRCm39)	M1315L	possibly damaging	Het
Bcl9	T	C	3: 97,116,183 (GRCm39)	Q837R	probably damaging	Het
Cct2	A	G	10: 116,889,029 (GRCm39)	V490A	probably benign	Het
Cdh23	T	C	10: 60,148,378 (GRCm39)	Y2663C	possibly damaging	Het
Chit1	A	G	1: 134,078,229 (GRCm39)	K346E	possibly damaging	Het
Chl1	A	G	6: 103,683,517 (GRCm39)	Y781C	probably damaging	Het
Col12a1	A	C	9: 79,557,314 (GRCm39)	L1938R	possibly damaging	Het
Cpxm2	T	A	7: 131,681,813 (GRCm39)	N239Y	probably damaging	Het
Cyp3a41b	A	G	5: 145,519,330 (GRCm39)	Y54H	probably benign	Het
Dclk1	A	C	3: 55,385,296 (GRCm39)	D369A	possibly damaging	Het
Dnai4	A	G	4: 102,919,610 (GRCm39)	V498A	probably damaging	Het
Dpy19l3	T	C	7: 35,449,190 (GRCm39)	N71S	possibly damaging	Het
Efcab3	T	A	11: 104,642,711 (GRCm39)	N1111K	probably benign	Het
Fer	T	A	17: 64,228,683 (GRCm39)	V186E	possibly damaging	Het
Gm11042	T	A	12: 74,361,888 (GRCm39)	H39L	unknown	Het
Gm14325	A	G	2: 177,473,798 (GRCm39)	I428T	probably benign	Het
Gm47995	A	G	1: 151,074,404 (GRCm39)	E69G	possibly damaging	Het
Gm6176	T	A	7: 21,750,596 (GRCm39)	I112F	probably damaging	Het
Hivep2	T	A	10: 14,005,710 (GRCm39)	D769E	probably benign	Het
Hsdl1	C	T	8: 120,294,607 (GRCm39)	V40I	probably benign	Het
Ipmk	A	G	10: 71,183,882 (GRCm39)	H34R	probably damaging	Het
Kcnd3	T	C	3: 105,366,856 (GRCm39)	L242P	probably damaging	Het
Kdm4d	T	C	9: 14,375,316 (GRCm39)	M181V	probably damaging	Het
Lats2	A	T	14: 57,934,582 (GRCm39)	I716N	probably damaging	Het
Liph	T	C	16: 21,784,772 (GRCm39)	Y305C	probably damaging	Het
Ltbp1	T	C	17: 75,533,962 (GRCm39)	V150A	possibly damaging	Het
Ly6d	A	T	15: 74,634,384 (GRCm39)	S69T	probably benign	Het
Meltf	A	G	16: 31,702,617 (GRCm39)	R115G	possibly damaging	Het
Msgn1	G	T	12: 11,258,902 (GRCm39)	D16E	probably benign	Het
Mthfd2l	T	A	5: 91,094,705 (GRCm39)	I58K	probably damaging	Het
Mup18	G	C	4: 61,591,573 (GRCm39)		probably null	Het
Nek10	T	A	14: 14,850,947 (GRCm38)	W331R	probably damaging	Het
Nphp3	A	G	9: 103,881,974 (GRCm39)	Y148C	probably damaging	Het
Or4a47	T	C	2: 89,666,076 (GRCm39)	Y71C	probably damaging	Het
Or5h19	C	T	16: 58,856,456 (GRCm39)	V215I	probably benign	Het
Oscp1	A	G	4: 125,980,459 (GRCm39)	T325A	possibly damaging	Het
Pcdha4	T	A	18: 37,086,613 (GRCm39)	N265K	probably damaging	Het
Pigq	C	T	17: 26,153,199 (GRCm39)	V331I	probably benign	Het
Plekhg4	A	G	8: 106,105,329 (GRCm39)	E598G	probably damaging	Het
Pou6f2	G	A	13: 18,303,748 (GRCm39)	T120M	probably damaging	Het
Psg27	T	A	7: 18,295,726 (GRCm39)	T240S	probably damaging	Het
Samd12	T	A	15: 53,723,649 (GRCm39)	I15F	probably damaging	Het
Scaf4	A	T	16: 90,049,318 (GRCm39)	D256E	unknown	Het
Scaf8	T	A	17: 3,213,373 (GRCm39)	M154K	unknown	Het
Slc27a1	T	C	8: 72,032,071 (GRCm39)	V64A	possibly damaging	Het
Smc5	G	A	19: 23,237,064 (GRCm39)	R256*	probably null	Het
Snx31	A	G	15: 36,555,455 (GRCm39)	F31L	probably benign	Het
Spag17	T	C	3: 100,002,888 (GRCm39)	S1871P	probably benign	Het
Tdpoz4	T	G	3: 93,704,662 (GRCm39)	S320A	probably benign	Het
Tmprss11c	A	T	5: 86,379,691 (GRCm39)	C406S	probably damaging	Het
Tnip1	G	A	11: 54,808,630 (GRCm39)	A519V	probably benign	Het
Tssc4	T	A	7: 142,624,724 (GRCm39)		probably null	Het
Uba3	A	T	6: 97,182,512 (GRCm39)	M1K	probably null	Het
Usp32	GAACAAGTCCACAACAA	GAACAA	11: 84,913,681 (GRCm39)		probably null	Het
Wnt11	T	C	7: 98,496,588 (GRCm39)	M176T	possibly damaging	Het
Wrn	C	T	8: 33,814,346 (GRCm39)	G366D	probably benign	Het
Xylt1	T	A	7: 117,255,807 (GRCm39)	I793N	probably damaging	Het
Zfp677	T	G	17: 21,618,679 (GRCm39)	C579G	probably damaging	Het
Zscan4-ps1	T	A	7: 10,799,626 (GRCm39)	K421M	probably damaging	Het

Other mutations in Or6c33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01387:Or6c33	APN	10	129,853,710 (GRCm39)	missense	probably damaging	0.98
IGL01938:Or6c33	APN	10	129,853,981 (GRCm39)	nonsense	probably null
IGL02369:Or6c33	APN	10	129,853,425 (GRCm39)	missense	possibly damaging	0.81
R0378:Or6c33	UTSW	10	129,853,872 (GRCm39)	missense	probably damaging	1.00
R0437:Or6c33	UTSW	10	129,853,965 (GRCm39)	missense	probably damaging	1.00
R0648:Or6c33	UTSW	10	129,853,350 (GRCm39)	missense	probably damaging	1.00
R1891:Or6c33	UTSW	10	129,853,439 (GRCm39)	missense	probably damaging	1.00
R2187:Or6c33	UTSW	10	129,853,557 (GRCm39)	missense	probably damaging	1.00
R4190:Or6c33	UTSW	10	129,853,847 (GRCm39)	missense	probably damaging	0.96
R4730:Or6c33	UTSW	10	129,853,416 (GRCm39)	missense	probably damaging	1.00
R6380:Or6c33	UTSW	10	129,853,782 (GRCm39)	missense	probably benign	0.18
R6496:Or6c33	UTSW	10	129,853,448 (GRCm39)	missense	probably benign	0.13
R7667:Or6c33	UTSW	10	129,853,403 (GRCm39)	missense	probably damaging	1.00
R7762:Or6c33	UTSW	10	129,853,050 (GRCm39)	intron	probably benign
R7823:Or6c33	UTSW	10	129,854,136 (GRCm39)	missense	probably benign	0.00
R8472:Or6c33	UTSW	10	129,853,445 (GRCm39)	missense	probably damaging	1.00
R8931:Or6c33	UTSW	10	129,853,769 (GRCm39)	missense	possibly damaging	0.81
R9536:Or6c33	UTSW	10	129,853,345 (GRCm39)	missense	probably benign	0.01
R9563:Or6c33	UTSW	10	129,853,287 (GRCm39)	missense	probably benign
R9564:Or6c33	UTSW	10	129,853,287 (GRCm39)	missense	probably benign
R9565:Or6c33	UTSW	10	129,853,287 (GRCm39)	missense	probably benign
R9624:Or6c33	UTSW	10	129,853,866 (GRCm39)	missense	possibly damaging	0.94
R9630:Or6c33	UTSW	10	129,853,410 (GRCm39)	missense	probably damaging	1.00
R9652:Or6c33	UTSW	10	129,853,809 (GRCm39)	missense	possibly damaging	0.95
Z1177:Or6c33	UTSW	10	129,853,854 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGCAGTGATGTCCTATGACCG -3'
(R):5'- ACCACTATCATGTGAGAGGAAC -3'

Sequencing Primer
(F):5'- CAGTGATGTCCTATGACCGCTATG -3'
(R):5'- TGTGAGAGGAACATGTAGAGAAAGCC -3'

Posted On

2019-06-26