Mutagenetix > Incidental Mutation

Incidental Mutation 'R9630:Or6c33'

725444

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

Accession Numbers

Essential gene?

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

Stock #

R9630 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129853232-129854170 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129853410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 60 (F60S)

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: F60S

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

SMART Domains

Protein: ENSMUSP00000052995
Gene: ENSMUSG00000048745
AA Change: F60S

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: F60S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000215791
AA Change: F60S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l1	A	G	6: 48,952,756 (GRCm39)	D227G	probably damaging	Het
Arhgap17	A	G	7: 122,907,540 (GRCm39)	M274T	probably benign	Het
Bco2	T	C	9: 50,456,757 (GRCm39)	T128A	possibly damaging	Het
Bcr	T	A	10: 74,966,950 (GRCm39)	L519Q	probably damaging	Het
Cadps2	A	T	6: 23,587,571 (GRCm39)	S306R	probably benign	Het
Cage1	T	C	13: 38,206,855 (GRCm39)	E330G	probably damaging	Het
Ccdc8	A	G	7: 16,728,733 (GRCm39)	K74R	possibly damaging	Het
Cdc42ep2	C	A	19: 5,968,363 (GRCm39)	G114V		Het
Celsr3	T	C	9: 108,704,296 (GRCm39)	S260P	probably benign	Het
Clic4	G	A	4: 134,944,476 (GRCm39)	T233I	probably damaging	Het
Clip2	C	A	5: 134,531,934 (GRCm39)	D624Y	probably damaging	Het
Clock	A	G	5: 76,393,281 (GRCm39)	S221P	probably benign	Het
Creb3l2	G	T	6: 37,356,808 (GRCm39)	S86R	possibly damaging	Het
Cspp1	G	A	1: 10,108,292 (GRCm39)		probably benign	Het
Dusp13b	A	T	14: 21,784,974 (GRCm39)	N128K	probably benign	Het
Efnb2	T	C	8: 8,670,617 (GRCm39)	S328G	probably damaging	Het
Egf	A	G	3: 129,518,844 (GRCm39)	L335P	possibly damaging	Het
Eml4	T	A	17: 83,717,572 (GRCm39)	V48D	probably damaging	Het
Fat2	A	C	11: 55,147,605 (GRCm39)	V3879G	probably benign	Het
Fcgbpl1	T	C	7: 27,836,624 (GRCm39)	L181P	probably damaging	Het
Flnb	T	A	14: 7,926,438 (GRCm38)	Y1827*	probably null	Het
Fuca2	A	T	10: 13,378,820 (GRCm39)	Y71F	probably benign	Het
Gcn1	C	A	5: 115,741,349 (GRCm39)	H1463N	probably damaging	Het
Ifitm10	C	T	7: 141,924,909 (GRCm39)	A48T	probably damaging	Het
Iqce	T	C	5: 140,666,591 (GRCm39)	D385G	possibly damaging	Het
Kdm5b	T	A	1: 134,512,971 (GRCm39)		probably null	Het
Kdm7a	A	T	6: 39,150,239 (GRCm39)	S178T	probably damaging	Het
Mmp12	T	A	9: 7,347,516 (GRCm39)	M31K	probably benign	Het
Mon2	C	T	10: 122,874,415 (GRCm39)	R311H	probably damaging	Het
Myh15	A	G	16: 48,980,341 (GRCm39)	T1488A	probably benign	Het
Myo15a	T	A	11: 60,407,988 (GRCm39)	C3159S	probably damaging	Het
Nf1	T	C	11: 79,302,470 (GRCm39)	V346A	probably damaging	Het
Nfkbib	A	T	7: 28,461,304 (GRCm39)	Y114*	probably null	Het
Nr2c1	T	A	10: 93,998,285 (GRCm39)	D76E	probably benign	Het
Obscn	G	A	11: 58,943,397 (GRCm39)	R4251C	probably benign	Het
Or1ak2	T	C	2: 36,827,653 (GRCm39)	I174T	probably damaging	Het
Or4a74	C	A	2: 89,440,349 (GRCm39)	M32I	probably benign	Het
Or5m10b	A	G	2: 85,699,493 (GRCm39)	M186V	probably benign	Het
Or8h7	A	C	2: 86,720,956 (GRCm39)	S188A	probably damaging	Het
Pced1a	A	T	2: 130,261,109 (GRCm39)	I416N	probably benign	Het
Pdzd2	G	T	15: 12,374,443 (GRCm39)	D1897E	probably benign	Het
Pign	A	T	1: 105,481,591 (GRCm39)	F802I	probably benign	Het
Pik3c2g	C	A	6: 139,599,237 (GRCm39)	Q118K	possibly damaging	Het
Plcl2	A	G	17: 50,947,147 (GRCm39)	M1009V	probably benign	Het
Ppil6	T	A	10: 41,370,550 (GRCm39)	D59E	probably benign	Het
Rad23a	T	C	8: 85,564,919 (GRCm39)	D152G	probably benign	Het
Rif1	A	G	2: 51,979,607 (GRCm39)	I430V	probably damaging	Het
Rint1	T	C	5: 24,020,810 (GRCm39)	V611A	possibly damaging	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sall4	A	G	2: 168,596,408 (GRCm39)	S811P	probably benign	Het
Scaf11	G	A	15: 96,316,049 (GRCm39)	P1172S	probably damaging	Het
Sel1l3	T	G	5: 53,342,117 (GRCm39)	N368H	possibly damaging	Het
Sele	C	A	1: 163,879,523 (GRCm39)	P352Q	probably damaging	Het
Serpinf1	T	A	11: 75,301,852 (GRCm39)	T268S	probably benign	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Sis	A	T	3: 72,828,722 (GRCm39)	N1152K	probably benign	Het
Slc16a13	T	C	11: 70,108,597 (GRCm39)	E411G	possibly damaging	Het
Slc22a23	T	C	13: 34,379,390 (GRCm39)	N459S	possibly damaging	Het
Srpk1	C	A	17: 28,819,404 (GRCm39)	K268N	probably benign	Het
Ssbp3	A	G	4: 106,895,426 (GRCm39)	Y258C	probably damaging	Het
Ssc5d	C	T	7: 4,939,426 (GRCm39)	P621S	probably damaging	Het
Strada	T	C	11: 106,077,781 (GRCm39)	Q61R	unknown	Het
Strn3	G	A	12: 51,657,013 (GRCm39)	T755I	probably damaging	Het
Taf4b	C	G	18: 14,930,077 (GRCm39)	P150A	probably damaging	Het
Tmem236	T	A	2: 14,223,815 (GRCm39)	H201Q	probably benign	Het
Top3b	A	G	16: 16,710,354 (GRCm39)	E728G	probably benign	Het
Tshr	C	T	12: 91,504,409 (GRCm39)	P449L	probably damaging	Het
Ugt2b36	C	T	5: 87,239,773 (GRCm39)	G204D	possibly damaging	Het
Vldlr	A	T	19: 27,207,623 (GRCm39)	Q37L	probably damaging	Het
Zfat	A	T	15: 67,990,793 (GRCm39)	I1031N	probably benign	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
R7198:Or6c33	UTSW	10	129,853,760 (GRCm39)	missense	probably damaging	1.00
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
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'- TGCCTGAAGTTAAAGATGGCAAAC -3'
(R):5'- CTCATGATAGTTGTGTAATGCAGGG -3'

Sequencing Primer
(F):5'- TCAACCTTCAAGCTGTGC -3'
(R):5'- TAGCGGTCATAGGACATCACTGC -3'

Posted On

2022-09-12