Mutagenetix > Incidental Mutation

Incidental Mutation 'R6723:Or6c65'

529701

Institutional Source

Beutler Lab

Gene Symbol

Or6c65

Ensembl Gene

ENSMUSG00000049894

Gene Name

olfactory receptor family 6 subfamily C member 65

Synonyms

GA_x6K02T2PULF-11446184-11447122, Olfr808, MOR112-2

MMRRC Submission

044841-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R6723 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129603367-129604305 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129604284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 306 (L306F)

Ref Sequence

ENSEMBL: ENSMUSP00000145315 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060636] [ENSMUST00000203236]

AlphaFold

Q8VGI8

Predicted Effect

probably benign
Transcript: ENSMUST00000060636
AA Change: L306F

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000059714
Gene: ENSMUSG00000049894
AA Change: L306F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	308	1.8e-53	PFAM
Pfam:7tm_1	39	288	7.7e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203236
AA Change: L306F

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000145315
Gene: ENSMUSG00000049894
AA Change: L306F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	308	1.8e-53	PFAM
Pfam:7tm_1	39	288	7.7e-25	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak2	A	G	12: 112,745,228 (GRCm39)	S740P	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Bcl11a	C	A	11: 24,113,646 (GRCm39)	P330T	probably damaging	Het
Cyp2d12	A	T	15: 82,441,085 (GRCm39)	I124F	probably benign	Het
Dhdds	T	C	4: 133,721,576 (GRCm39)	T74A	probably damaging	Het
Dio3	G	A	12: 110,245,991 (GRCm39)	C109Y	possibly damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dock7	A	G	4: 98,892,153 (GRCm39)	V811A	possibly damaging	Het
Efcab3	A	T	11: 105,007,906 (GRCm39)	T329S	possibly damaging	Het
Esp1	A	T	17: 41,039,747 (GRCm39)	I11L	probably benign	Het
Fam13b	A	T	18: 34,631,079 (GRCm39)	H33Q	possibly damaging	Het
Fam13c	G	A	10: 70,390,355 (GRCm39)	D539N	probably damaging	Het
Fgd5	A	G	6: 91,965,011 (GRCm39)	T257A	probably benign	Het
Gm5134	A	G	10: 75,844,453 (GRCm39)	D603G	probably benign	Het
Gtpbp2	T	C	17: 46,479,202 (GRCm39)	V588A	probably benign	Het
Ift140	A	G	17: 25,252,090 (GRCm39)	I312M	probably benign	Het
Inpp5j	T	C	11: 3,450,640 (GRCm39)	N571S	probably damaging	Het
Iqgap1	T	G	7: 80,373,570 (GRCm39)	D1473A	probably benign	Het
Ivl	T	G	3: 92,478,694 (GRCm39)	K457T	unknown	Het
Kdm3b	T	C	18: 34,926,058 (GRCm39)	I66T	probably damaging	Het
Kif21a	A	T	15: 90,824,649 (GRCm39)	M1430K	probably damaging	Het
Klhl25	T	A	7: 75,515,739 (GRCm39)	L215Q	possibly damaging	Het
Lim2	T	A	7: 43,085,099 (GRCm39)	M163K	probably benign	Het
Lrig1	T	C	6: 94,603,386 (GRCm39)	D254G	probably damaging	Het
Mff	A	G	1: 82,729,387 (GRCm39)	I122V	possibly damaging	Het
Mrpl15	A	C	1: 4,852,789 (GRCm39)		probably null	Het
Mylk	A	G	16: 34,750,258 (GRCm39)	Y1199C	possibly damaging	Het
Nlrp3	G	A	11: 59,456,018 (GRCm39)	C938Y	probably damaging	Het
Notch1	T	C	2: 26,368,118 (GRCm39)	N623D	probably damaging	Het
Obscn	T	G	11: 58,945,824 (GRCm39)	E4129A	probably damaging	Het
Or10a49	A	T	7: 108,467,795 (GRCm39)	C189S	probably damaging	Het
Or4c116	G	T	2: 88,942,640 (GRCm39)	T72N	possibly damaging	Het
Or4d11	A	G	19: 12,013,639 (GRCm39)	S156P	probably damaging	Het
Or5k1	T	C	16: 58,617,795 (GRCm39)	K138R	probably benign	Het
Parm1	C	T	5: 91,770,856 (GRCm39)	P291S	probably damaging	Het
Pcsk1	T	A	13: 75,241,188 (GRCm39)		probably null	Het
Pgap6	C	A	17: 26,339,610 (GRCm39)	T616N	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Piezo1	T	G	8: 123,234,366 (GRCm39)	Q93H	probably benign	Het
Pkd2l2	A	T	18: 34,571,210 (GRCm39)	Y575F	probably damaging	Het
Plekhn1	A	C	4: 156,309,026 (GRCm39)	F258C	probably damaging	Het
Pole	C	T	5: 110,471,482 (GRCm39)	H1409Y	probably benign	Het
Rae1	T	C	2: 172,854,041 (GRCm39)	I273T	probably damaging	Het
Rag1	A	G	2: 101,473,990 (GRCm39)	V384A	probably damaging	Het
Rnaseh1	T	C	12: 28,699,761 (GRCm39)	L25P	probably damaging	Het
Serpinb12	A	G	1: 106,876,888 (GRCm39)	H68R	probably benign	Het
Sh3tc2	A	T	18: 62,111,025 (GRCm39)	I294F	probably damaging	Het
Sirpb1b	A	C	3: 15,613,858 (GRCm39)	L75V	possibly damaging	Het
Slc12a6	A	T	2: 112,168,287 (GRCm39)	T277S	probably damaging	Het
Slc7a12	A	T	3: 14,564,257 (GRCm39)	E43D	probably benign	Het
Spata31d1c	T	A	13: 65,183,758 (GRCm39)	D433E	probably benign	Het
Spata31h1	T	C	10: 82,125,657 (GRCm39)	Y2451C	possibly damaging	Het
Tbl2	A	T	5: 135,188,130 (GRCm39)	Y308F	probably damaging	Het
Tfec	T	C	6: 16,835,301 (GRCm39)	Y159C	probably damaging	Het
Top1mt	G	T	15: 75,539,282 (GRCm39)	T371K	probably benign	Het
Trim24	T	C	6: 37,928,403 (GRCm39)	V541A	probably benign	Het
Ttc16	T	C	2: 32,658,049 (GRCm39)	Y456C	possibly damaging	Het
Ttn	G	A	2: 76,600,441 (GRCm39)	R17204*	probably null	Het
Ugt1a6b	T	C	1: 88,035,439 (GRCm39)	V259A	probably benign	Het
Unc5a	T	C	13: 55,143,702 (GRCm39)	W129R	probably benign	Het
Vmn1r63	T	A	7: 5,805,948 (GRCm39)	H228L	probably damaging	Het
Whamm	G	T	7: 81,245,868 (GRCm39)	V775F	probably damaging	Het
Zfc3h1	T	A	10: 115,256,638 (GRCm39)	I1536N	probably benign	Het
Zfp1	T	C	8: 112,396,971 (GRCm39)	S317P	probably damaging	Het
Zfp58	T	C	13: 67,642,192 (GRCm39)	T52A	probably damaging	Het

Other mutations in Or6c65

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00965:Or6c65	APN	10	129,603,455 (GRCm39)	missense	probably null	0.99
IGL01313:Or6c65	APN	10	129,603,464 (GRCm39)	missense	probably damaging	1.00
IGL01923:Or6c65	APN	10	129,603,973 (GRCm39)	missense	probably benign	0.01
IGL02010:Or6c65	APN	10	129,604,136 (GRCm39)	missense	probably benign	0.07
IGL02393:Or6c65	APN	10	129,603,662 (GRCm39)	missense	probably benign	0.06
IGL03026:Or6c65	APN	10	129,603,910 (GRCm39)	missense	probably benign	0.00
R1181:Or6c65	UTSW	10	129,604,033 (GRCm39)	missense	probably benign	0.09
R1760:Or6c65	UTSW	10	129,603,417 (GRCm39)	missense	probably benign	0.06
R1844:Or6c65	UTSW	10	129,603,725 (GRCm39)	missense	probably benign	0.03
R2697:Or6c65	UTSW	10	129,603,793 (GRCm39)	missense	probably benign	0.09
R3025:Or6c65	UTSW	10	129,603,542 (GRCm39)	missense	probably damaging	1.00
R3414:Or6c65	UTSW	10	129,604,301 (GRCm39)	missense	probably benign
R5824:Or6c65	UTSW	10	129,604,250 (GRCm39)	missense	probably damaging	1.00
R6260:Or6c65	UTSW	10	129,603,389 (GRCm39)	missense	probably benign	0.00
R6758:Or6c65	UTSW	10	129,603,920 (GRCm39)	missense	probably damaging	0.97
R7305:Or6c65	UTSW	10	129,603,720 (GRCm39)	nonsense	probably null
R7422:Or6c65	UTSW	10	129,604,136 (GRCm39)	missense	possibly damaging	0.95
R8393:Or6c65	UTSW	10	129,604,304 (GRCm39)	makesense	probably null
R8444:Or6c65	UTSW	10	129,603,794 (GRCm39)	missense	probably damaging	1.00
R8702:Or6c65	UTSW	10	129,604,284 (GRCm39)	missense	probably benign	0.38
R8717:Or6c65	UTSW	10	129,604,127 (GRCm39)	missense	probably damaging	1.00
R8797:Or6c65	UTSW	10	129,603,674 (GRCm39)	missense	probably damaging	1.00
R9356:Or6c65	UTSW	10	129,604,035 (GRCm39)	missense	possibly damaging	0.87
R9596:Or6c65	UTSW	10	129,603,988 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGATACCTTCTGCAGAGCAAAGG -3'
(R):5'- AACGACTGTGAGTTATTTAGGTAGG -3'

Sequencing Primer
(F):5'- GAAAAAGGCCTTTTCCACTTGTTC -3'
(R):5'- AGGTATTTATTTTGACTCCCATTCAC -3'

Posted On

2018-08-01