Mutagenetix > Incidental Mutation

Incidental Mutation 'R1760:Or6c65'

192712

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

039792-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R1760 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129603367-129604305 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129603417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 17 (D17E)

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: D17E

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000059714
Gene: ENSMUSG00000049894
AA Change: D17E

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: D17E

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000145315
Gene: ENSMUSG00000049894
AA Change: D17E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

Validation Efficiency

97% (95/98)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	C	2: 25,333,055 (GRCm39)	S1585P	probably benign	Het
Abhd16b	T	C	2: 181,135,197 (GRCm39)	F33S	probably damaging	Het
Adgra2	G	A	8: 27,609,795 (GRCm39)	R856Q	probably damaging	Het
Aff3	A	T	1: 38,368,945 (GRCm39)		probably benign	Het
Anxa2	A	T	9: 69,397,049 (GRCm39)	Y251F	probably benign	Het
Arid1b	A	G	17: 5,392,088 (GRCm39)	T1873A	probably damaging	Het
Baz1b	C	A	5: 135,271,378 (GRCm39)	D1320E	probably benign	Het
Bbs1	A	T	19: 4,944,350 (GRCm39)	S426R	probably benign	Het
Bid	A	G	6: 120,877,209 (GRCm39)	V44A	possibly damaging	Het
Ccdc60	T	A	5: 116,310,532 (GRCm39)	M177L	probably damaging	Het
Cdh23	G	A	10: 60,161,855 (GRCm39)	T1997M	probably damaging	Het
Cdh5	T	A	8: 104,854,801 (GRCm39)	M243K	probably benign	Het
Clpb	T	A	7: 101,435,905 (GRCm39)	V578E	possibly damaging	Het
Cngb1	C	A	8: 96,026,328 (GRCm39)	C151F	probably benign	Het
Cntnap5b	T	C	1: 99,700,535 (GRCm39)	S16P	probably benign	Het
Cr1l	T	A	1: 194,797,123 (GRCm39)	M305L	probably benign	Het
Ctnnal1	A	T	4: 56,838,988 (GRCm39)	M235K	probably damaging	Het
Ddx55	A	T	5: 124,706,176 (GRCm39)	R534W	probably damaging	Het
Dip2b	T	A	15: 100,109,910 (GRCm39)	L1465Q	probably damaging	Het
Dnah9	G	T	11: 65,872,048 (GRCm39)	D2727E	probably benign	Het
Dph3b-ps	A	C	13: 106,683,497 (GRCm39)		noncoding transcript	Het
Dst	T	A	1: 34,267,684 (GRCm39)	L2702Q	probably damaging	Het
Efnb2	T	C	8: 8,673,184 (GRCm39)	T158A	possibly damaging	Het
Exosc10	A	T	4: 148,662,926 (GRCm39)	K712*	probably null	Het
Fgr	T	C	4: 132,725,653 (GRCm39)	V354A	possibly damaging	Het
Fsip2	A	G	2: 82,830,185 (GRCm39)	D6893G	possibly damaging	Het
Fsip2	G	A	2: 82,815,240 (GRCm39)	V3658M	probably benign	Het
Fsip2	A	T	2: 82,818,055 (GRCm39)	H4596L	possibly damaging	Het
Gm1527	G	A	3: 28,949,699 (GRCm39)		probably benign	Het
Gm5150	G	T	3: 16,060,468 (GRCm39)	Q7K	probably benign	Het
Gpr155	C	T	2: 73,212,279 (GRCm39)	V115M	probably damaging	Het
Gpr75	T	C	11: 30,841,527 (GRCm39)	L144P	probably damaging	Het
Gsn	T	A	2: 35,174,835 (GRCm39)	Y127N	probably damaging	Het
Hk1	A	G	10: 62,117,678 (GRCm39)	L615S	probably damaging	Het
Igsf9b	A	G	9: 27,229,123 (GRCm39)	T194A	possibly damaging	Het
Il17rd	C	T	14: 26,813,763 (GRCm39)	Q46*	probably null	Het
Jak1	T	A	4: 101,020,126 (GRCm39)	M678L	probably benign	Het
Kif6	T	C	17: 49,922,311 (GRCm39)	V16A	probably benign	Het
Kpna3	T	C	14: 61,607,990 (GRCm39)	E405G	probably benign	Het
Lmtk2	C	A	5: 144,110,993 (GRCm39)	T571K	probably damaging	Het
Mucl2	T	C	15: 103,927,838 (GRCm39)	T40A	possibly damaging	Het
Myh11	G	A	16: 14,051,559 (GRCm39)		probably benign	Het
Myh7	C	T	14: 55,210,170 (GRCm39)	R1845Q	probably damaging	Het
Myo1f	T	A	17: 33,805,172 (GRCm39)	L480Q	probably benign	Het
Nek9	T	G	12: 85,352,364 (GRCm39)	D833A	possibly damaging	Het
Nek9	T	C	12: 85,357,184 (GRCm39)	E660G	probably benign	Het
Or10z1	C	T	1: 174,077,926 (GRCm39)	C189Y	probably damaging	Het
Or2a12	A	G	6: 42,904,431 (GRCm39)	I89V	possibly damaging	Het
Or2t45	A	G	11: 58,669,195 (GRCm39)	M81V	possibly damaging	Het
Or5h18	T	C	16: 58,847,350 (GRCm39)	R307G	probably benign	Het
Or6f2	G	A	7: 139,756,188 (GRCm39)	V52M	probably damaging	Het
Or7s1a-ps1	T	A	9: 18,843,791 (GRCm39)		probably benign	Het
Otud3	G	T	4: 138,623,092 (GRCm39)	T383K	possibly damaging	Het
Pkp4	T	C	2: 59,142,185 (GRCm39)	L496P	probably damaging	Het
Pla2g4e	C	A	2: 120,000,527 (GRCm39)	A737S	possibly damaging	Het
Pla2g4f	T	C	2: 120,144,547 (GRCm39)		probably benign	Het
Plxnd1	A	T	6: 115,944,740 (GRCm39)	V1018E	possibly damaging	Het
Ppp1r21	T	G	17: 88,869,653 (GRCm39)	V402G	possibly damaging	Het
Prkcq	T	G	2: 11,304,881 (GRCm39)	M690R	probably damaging	Het
Ptpra	T	C	2: 130,391,747 (GRCm39)	I719T	probably damaging	Het
Rab3ip	C	T	10: 116,773,415 (GRCm39)	D133N	probably damaging	Het
Relch	T	G	1: 105,647,169 (GRCm39)		probably benign	Het
Rsbn1	T	A	3: 103,867,347 (GRCm39)	Y563N	probably damaging	Het
Rtf1	A	C	2: 119,558,889 (GRCm39)	D530A	probably benign	Het
Rybp	G	T	6: 100,209,224 (GRCm39)	S199R	probably benign	Het
Sema5a	T	G	15: 32,641,252 (GRCm39)	C689G	probably damaging	Het
Senp6	T	A	9: 80,025,911 (GRCm39)	V314E	probably benign	Het
Setd1a	T	A	7: 127,385,062 (GRCm39)	C47S	possibly damaging	Het
Slamf1	C	A	1: 171,604,734 (GRCm39)	T168K	probably benign	Het
Slc12a5	T	C	2: 164,838,048 (GRCm39)	S937P	probably damaging	Het
Slc38a11	C	T	2: 65,185,663 (GRCm39)		probably null	Het
Slc6a2	C	T	8: 93,687,846 (GRCm39)		probably benign	Het
Snw1	A	T	12: 87,511,459 (GRCm39)	F64Y	probably benign	Het
Spata9	A	C	13: 76,146,643 (GRCm39)	I172L	probably benign	Het
Sphkap	T	C	1: 83,255,265 (GRCm39)	H828R	probably benign	Het
Spmip6	T	A	4: 41,507,330 (GRCm39)		probably null	Het
Tmem94	A	T	11: 115,687,580 (GRCm39)	K1146N	probably damaging	Het
Trdn	A	G	10: 33,109,883 (GRCm39)	T294A	possibly damaging	Het
Tsc22d1	T	C	14: 76,654,388 (GRCm39)	V289A	possibly damaging	Het
Tti1	C	A	2: 157,834,955 (GRCm39)	V1002L	possibly damaging	Het
Tubgcp4	T	A	2: 121,019,952 (GRCm39)		probably null	Het
Ush2a	G	A	1: 188,643,180 (GRCm39)	E4181K	possibly damaging	Het
Uvrag	A	G	7: 98,537,555 (GRCm39)	S547P	probably benign	Het
Vav3	T	C	3: 109,248,443 (GRCm39)	V30A	possibly damaging	Het
Vegfa	A	G	17: 46,336,395 (GRCm39)	Y242H	probably damaging	Het
Vmn2r75	G	T	7: 85,798,019 (GRCm39)	T598K	probably damaging	Het
Vps13b	C	T	15: 35,884,765 (GRCm39)	S3146L	possibly damaging	Het
Vrk3	A	G	7: 44,417,895 (GRCm39)	Y310C	probably damaging	Het
Zfhx4	A	G	3: 5,447,676 (GRCm39)	K1100R	probably benign	Het
Zfp748	T	A	13: 67,693,540 (GRCm39)		probably null	Het
Zfp760	A	T	17: 21,941,311 (GRCm39)	D162V	probably damaging	Het
Znfx1	T	A	2: 166,881,786 (GRCm39)	M1068L	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
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
R6723:Or6c65	UTSW	10	129,604,284 (GRCm39)	missense	probably benign	0.38
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'- CTCAGCCAGATTCTGTCATCGAACC -3'
(R):5'- TGCCATGCAGGCATTATAGGAAATAGC -3'

Sequencing Primer
(F):5'- GGAGTATGAGGCTACTGCCTATAATC -3'
(R):5'- TCAGAAATCTTGGAATGCAGACTG -3'

Posted On

2014-05-23