Mutagenetix > Incidental Mutation

Incidental Mutation 'R6305:Or8k33'

509573

Institutional Source

Beutler Lab

Gene Symbol

Or8k33

Ensembl Gene

ENSMUSG00000110912

Gene Name

olfactory receptor family 8 subfamily K member 33

Synonyms

GA_x6K02T2Q125-48039418-48038477, MOR192-1, Olfr1080

MMRRC Submission

044411-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R6305 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86383525-86388482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86383839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 210 (S210P)

Ref Sequence

ENSEMBL: ENSMUSP00000150502 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000213185]

AlphaFold

Q7TR67

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213185
AA Change: S210P

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.3193

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

97% (61/63)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,773,741 (GRCm39)	S977P	probably damaging	Het
Abraxas2	G	A	7: 132,476,694 (GRCm39)	A145T	probably damaging	Het
Adcy6	T	A	15: 98,496,526 (GRCm39)	I550L	probably benign	Het
Agbl3	G	A	6: 34,759,145 (GRCm39)	D19N	unknown	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Arhgap39	T	A	15: 76,621,902 (GRCm39)	D233V	probably benign	Het
Bcl9	G	A	3: 97,113,254 (GRCm39)	P1067L	possibly damaging	Het
Casd1	C	T	6: 4,641,892 (GRCm39)	T723I	probably damaging	Het
Cd209g	T	A	8: 4,186,809 (GRCm39)	I118N	probably benign	Het
Cdh24	A	T	14: 54,869,813 (GRCm39)	D701E	possibly damaging	Het
Chd9	C	T	8: 91,757,174 (GRCm39)	P1858S	possibly damaging	Het
Csnk1g3	T	A	18: 54,065,384 (GRCm39)	Y322*	probably null	Het
Cyp2f2	G	A	7: 26,828,649 (GRCm39)	R173H	probably damaging	Het
D130043K22Rik	T	C	13: 25,069,668 (GRCm39)	F909S	probably damaging	Het
Dll4	T	A	2: 119,161,138 (GRCm39)	S299T	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dsg4	T	A	18: 20,582,847 (GRCm39)	Y162N	probably damaging	Het
Enpp1	T	C	10: 24,517,780 (GRCm39)	Y882C	probably damaging	Het
Fbxw7	T	A	3: 84,883,630 (GRCm39)	N520K	probably damaging	Het
Galc	C	T	12: 98,225,549 (GRCm39)	A14T	possibly damaging	Het
Grm7	G	A	6: 111,335,626 (GRCm39)	R679Q	probably damaging	Het
Hnrnpdl	T	C	5: 100,186,517 (GRCm39)		probably benign	Het
Il12a	A	T	3: 68,601,511 (GRCm39)	K77N	possibly damaging	Het
Il17rd	C	T	14: 26,817,899 (GRCm39)	S196L	possibly damaging	Het
Kcnv2	T	C	19: 27,301,237 (GRCm39)	F363L	probably benign	Het
Lair1	A	G	7: 4,013,727 (GRCm39)		probably null	Het
Lrit3	G	A	3: 129,594,109 (GRCm39)	T156I	probably damaging	Het
Me2	T	A	18: 73,924,915 (GRCm39)	R267S	probably benign	Het
Mga	T	C	2: 119,778,179 (GRCm39)	V1908A	probably benign	Het
Mylk3	T	A	8: 86,077,048 (GRCm39)	I463F	probably damaging	Het
Neb	G	A	2: 52,141,775 (GRCm39)	R75*	probably null	Het
Niban1	T	C	1: 151,571,469 (GRCm39)	L248P	probably damaging	Het
Or10a3b	C	T	7: 108,444,761 (GRCm39)	G152D	possibly damaging	Het
Or1j11	T	A	2: 36,311,634 (GRCm39)	S75T	probably damaging	Het
Or5p50	T	G	7: 107,421,864 (GRCm39)	T271P	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Or8b36	TG	TGGTGTTGG	9: 37,937,838 (GRCm39)		probably null	Het
Pfas	A	G	11: 68,892,023 (GRCm39)	S162P	possibly damaging	Het
Pip5k1c	T	A	10: 81,151,768 (GRCm39)	V654E	probably benign	Het
Plxdc1	C	A	11: 97,829,416 (GRCm39)	C318F	probably damaging	Het
Qrfprl	A	T	6: 65,431,975 (GRCm39)	M293L	probably benign	Het
Rbm8a2	T	C	1: 175,806,312 (GRCm39)	D55G	probably benign	Het
Rexo5	A	T	7: 119,427,348 (GRCm39)	K419N	probably damaging	Het
Septin4	C	T	11: 87,458,145 (GRCm39)	T173M	probably benign	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc24a4	C	A	12: 102,188,360 (GRCm39)	T151K	possibly damaging	Het
Slc6a15	A	T	10: 103,225,031 (GRCm39)	I40F	probably benign	Het
Slc6a21	T	C	7: 44,930,028 (GRCm39)	V172A	possibly damaging	Het
Thrap3	A	G	4: 126,074,600 (GRCm39)		probably benign	Het
Tm9sf3	A	G	19: 41,233,881 (GRCm39)		probably null	Het
Trp53	A	T	11: 69,479,533 (GRCm39)	H211L	probably damaging	Het
Ttc21b	A	T	2: 66,018,614 (GRCm39)	N1264K	probably damaging	Het
Vmn1r120	A	T	7: 20,787,531 (GRCm39)	V60E	possibly damaging	Het
Ylpm1	A	G	12: 85,077,319 (GRCm39)	E890G	probably damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp934	T	C	13: 62,666,370 (GRCm39)	Y102C	probably damaging	Het

Other mutations in Or8k33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01937:Or8k33	APN	2	86,383,793 (GRCm39)	missense	probably benign	0.34
IGL02169:Or8k33	APN	2	86,384,226 (GRCm39)	missense	probably benign	0.39
IGL02234:Or8k33	APN	2	86,383,610 (GRCm39)	missense	probably damaging	1.00
IGL02530:Or8k33	APN	2	86,384,224 (GRCm39)	missense	possibly damaging	0.60
R0046:Or8k33	UTSW	2	86,383,976 (GRCm39)	missense	probably damaging	1.00
R0360:Or8k33	UTSW	2	86,384,123 (GRCm39)	missense	probably damaging	1.00
R0364:Or8k33	UTSW	2	86,384,123 (GRCm39)	missense	probably damaging	1.00
R0377:Or8k33	UTSW	2	86,383,927 (GRCm39)	missense	probably damaging	1.00
R1496:Or8k33	UTSW	2	86,384,096 (GRCm39)	missense	probably damaging	1.00
R1609:Or8k33	UTSW	2	86,383,949 (GRCm39)	missense	probably damaging	1.00
R1674:Or8k33	UTSW	2	86,384,204 (GRCm39)	missense	probably damaging	0.96
R1816:Or8k33	UTSW	2	86,384,011 (GRCm39)	nonsense	probably null
R2870:Or8k33	UTSW	2	86,383,928 (GRCm39)	missense	possibly damaging	0.95
R2870:Or8k33	UTSW	2	86,383,928 (GRCm39)	missense	possibly damaging	0.95
R4387:Or8k33	UTSW	2	86,384,298 (GRCm39)	missense	probably damaging	1.00
R4915:Or8k33	UTSW	2	86,384,399 (GRCm39)	missense	probably damaging	1.00
R4924:Or8k33	UTSW	2	86,383,853 (GRCm39)	missense	probably damaging	1.00
R4987:Or8k33	UTSW	2	86,383,579 (GRCm39)	splice site	probably null	0.10
R5774:Or8k33	UTSW	2	86,384,351 (GRCm39)	missense	possibly damaging	0.68
R6829:Or8k33	UTSW	2	86,383,613 (GRCm39)	nonsense	probably null
R7152:Or8k33	UTSW	2	86,383,673 (GRCm39)	missense	probably benign	0.14
R7561:Or8k33	UTSW	2	86,383,661 (GRCm39)	missense	probably benign	0.45
R7963:Or8k33	UTSW	2	86,383,639 (GRCm39)	missense	possibly damaging	0.86
R8031:Or8k33	UTSW	2	86,384,447 (GRCm39)	missense	probably damaging	1.00
R8177:Or8k33	UTSW	2	86,383,623 (GRCm39)	missense	noncoding transcript
R8349:Or8k33	UTSW	2	86,383,980 (GRCm39)	missense	probably benign	0.22
R8449:Or8k33	UTSW	2	86,383,980 (GRCm39)	missense	probably benign	0.22
R8490:Or8k33	UTSW	2	86,384,027 (GRCm39)	missense	probably benign	0.06
R8787:Or8k33	UTSW	2	86,384,297 (GRCm39)	missense	probably damaging	1.00
R8801:Or8k33	UTSW	2	86,383,727 (GRCm39)	missense	probably benign	0.22
R8808:Or8k33	UTSW	2	86,384,297 (GRCm39)	missense	probably damaging	1.00
R9035:Or8k33	UTSW	2	86,384,021 (GRCm39)	missense	probably damaging	0.98
R9301:Or8k33	UTSW	2	86,383,818 (GRCm39)	missense	possibly damaging	0.91
Z1088:Or8k33	UTSW	2	86,384,310 (GRCm39)	missense	probably benign	0.40
Z1191:Or8k33	UTSW	2	86,384,471 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TGAATGGCTAGATTCAGGTTGTAC -3'
(R):5'- CATCATGTCCCATAAAGTATGTTGGG -3'

Sequencing Primer
(F):5'- CTCAGCAGAGTTCATCCT -3'
(R):5'- CCCATAAAGTATGTTGGGTTCTAGTC -3'

Posted On

2018-04-02