Mutagenetix > Incidental Mutation

Incidental Mutation 'R5306:Or6c70'

404572

Institutional Source

Beutler Lab

Gene Symbol

Or6c70

Ensembl Gene

ENSMUSG00000059134

Gene Name

olfactory receptor family 6 subfamily C member 70

Synonyms

MOR113-8, MOR113-5, Olfr814, GA_x6K02T2PULF-11553313-11552381

MMRRC Submission

042889-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R5306 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129709692-129710624 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 129709810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Arginine at position 272 (I272R)

Ref Sequence

ENSEMBL: ENSMUSP00000150458 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081367] [ENSMUST00000213742] [ENSMUST00000216966]

AlphaFold

Q7TRH4

Predicted Effect

probably damaging
Transcript: ENSMUST00000081367
AA Change: I272R

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000080106
Gene: ENSMUSG00000059134
AA Change: I272R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	5.2e-47	PFAM
Pfam:7tm_1	39	288	1.5e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213742
AA Change: I272R

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216966
AA Change: I272R

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

97% (64/66)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	T	A	8: 56,324,792 (GRCm39)	D554V	probably damaging	Het
Ankrd44	G	A	1: 54,965,362 (GRCm39)		probably benign	Het
Api5	A	T	2: 94,253,811 (GRCm39)	C297*	probably null	Het
Asb14	G	A	14: 26,633,866 (GRCm39)	C357Y	probably damaging	Het
Brd10	A	G	19: 29,707,230 (GRCm39)		probably benign	Het
Brdt	T	A	5: 107,493,010 (GRCm39)	D112E	probably damaging	Het
Capsl	C	A	15: 9,457,876 (GRCm39)	Q32K	probably benign	Het
Ccdc106	A	G	7: 5,061,096 (GRCm39)	D81G	probably damaging	Het
Ccdc121rt3	T	C	5: 112,502,910 (GRCm39)	R265G	probably benign	Het
Cep104	C	A	4: 154,090,699 (GRCm39)	T884K	probably benign	Het
Cmbl	T	C	15: 31,582,215 (GRCm39)	Y71H	probably damaging	Het
Crybg3	A	T	16: 59,380,356 (GRCm39)		probably benign	Het
Dynlt1c	T	C	17: 6,869,210 (GRCm39)	M1T	probably null	Het
Erbb2	T	C	11: 98,319,032 (GRCm39)	S574P	probably benign	Het
Exosc10	T	C	4: 148,646,849 (GRCm39)	V153A	probably benign	Het
Faxc	G	T	4: 21,931,557 (GRCm39)		probably benign	Het
Fcgbp	A	G	7: 27,791,243 (GRCm39)	T835A	probably damaging	Het
Fmo5	G	T	3: 97,549,076 (GRCm39)	M241I	probably benign	Het
Gabra1	A	C	11: 42,024,379 (GRCm39)	I432S	probably benign	Het
Gfap	A	G	11: 102,786,574 (GRCm39)		probably null	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm12185	T	A	11: 48,806,382 (GRCm39)	M270L	probably benign	Het
Gm14443	T	C	2: 175,011,372 (GRCm39)	N358S	possibly damaging	Het
Gpr3	C	T	4: 132,938,490 (GRCm39)	V61M	probably damaging	Het
Herc2	C	T	7: 55,834,709 (GRCm39)	T3229M	probably damaging	Het
Ifit3	A	G	19: 34,565,207 (GRCm39)	Y251C	probably damaging	Het
Inf2	G	A	12: 112,567,987 (GRCm39)	V180I	probably benign	Het
Ints11	T	C	4: 155,959,665 (GRCm39)	Y91H	probably damaging	Het
Ints4	A	C	7: 97,158,885 (GRCm39)	D419A	probably damaging	Het
Kmt2e	T	C	5: 23,704,331 (GRCm39)	S1175P	probably damaging	Het
Mki67	A	T	7: 135,315,730 (GRCm39)	V44E	probably damaging	Het
Mrgprb13	A	T	7: 47,961,940 (GRCm39)		noncoding transcript	Het
Myh2	T	C	11: 67,077,382 (GRCm39)	L839P	probably damaging	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Or4l1	A	G	14: 50,167,007 (GRCm39)		probably benign	Het
Pced1a	T	A	2: 130,261,091 (GRCm39)	H422L	probably benign	Het
Plpp1	G	T	13: 112,988,089 (GRCm39)		probably null	Het
Plxna4	T	C	6: 32,183,056 (GRCm39)	Y949C	probably damaging	Het
Polg2	G	A	11: 106,669,796 (GRCm39)	T158I	probably damaging	Het
Prss38	A	T	11: 59,263,821 (GRCm39)	I297K	probably benign	Het
Psph	A	G	5: 129,846,431 (GRCm39)	L98P	probably damaging	Het
Rab11b	G	A	17: 33,979,243 (GRCm39)		probably benign	Het
Rsf1	CGGCGGC	CGGCGGCGGGGGCGGC	7: 97,229,136 (GRCm39)		probably benign	Het
Serpine3	G	A	14: 62,908,382 (GRCm39)	A137T	probably damaging	Het
Sh3bp4	T	C	1: 89,071,997 (GRCm39)	F282L	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Skic3	G	A	13: 76,295,886 (GRCm39)	E1050K	possibly damaging	Het
Slco2b1	T	A	7: 99,338,198 (GRCm39)	Y109F	possibly damaging	Het
Slfn10-ps	T	A	11: 82,926,355 (GRCm39)		noncoding transcript	Het
Smc5	A	G	19: 23,237,009 (GRCm39)		probably null	Het
Smyd4	A	G	11: 75,292,984 (GRCm39)	N638S	probably benign	Het
Stxbp5	T	C	10: 9,675,735 (GRCm39)	E628G	probably damaging	Het
Tmem236	A	T	2: 14,223,975 (GRCm39)	K255*	probably null	Het
Ttc29	T	A	8: 78,978,539 (GRCm39)		probably null	Het
Tyr	A	G	7: 87,087,222 (GRCm39)	I430T	probably damaging	Het
Uckl1	A	G	2: 181,216,160 (GRCm39)		probably null	Het
Vmn2r52	A	C	7: 9,904,672 (GRCm39)	I389R	possibly damaging	Het
Wdr62	A	T	7: 29,964,688 (GRCm39)	F352Y	possibly damaging	Het
Wdr70	T	C	15: 7,953,754 (GRCm39)	D379G	probably benign	Het
Zfp408	T	A	2: 91,476,690 (GRCm39)	M155L	probably benign	Het
Zfp459	T	A	13: 67,561,249 (GRCm39)	Q66H	probably damaging	Het
Zfp870	C	A	17: 33,102,627 (GRCm39)	G234V	probably damaging	Het

Other mutations in Or6c70

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01831:Or6c70	APN	10	129,709,900 (GRCm39)	missense	probably damaging	1.00
IGL02045:Or6c70	APN	10	129,710,091 (GRCm39)	missense	probably benign	0.22
IGL02301:Or6c70	APN	10	129,709,948 (GRCm39)	missense	probably damaging	0.99
R0277:Or6c70	UTSW	10	129,709,936 (GRCm39)	missense	probably damaging	0.99
R0281:Or6c70	UTSW	10	129,710,415 (GRCm39)	missense	possibly damaging	0.88
R0323:Or6c70	UTSW	10	129,709,936 (GRCm39)	missense	probably damaging	0.99
R0394:Or6c70	UTSW	10	129,709,811 (GRCm39)	missense	probably benign	0.29
R0546:Or6c70	UTSW	10	129,710,407 (GRCm39)	missense	possibly damaging	0.94
R3813:Or6c70	UTSW	10	129,709,855 (GRCm39)	missense	probably damaging	1.00
R4086:Or6c70	UTSW	10	129,710,167 (GRCm39)	missense	possibly damaging	0.49
R4415:Or6c70	UTSW	10	129,709,826 (GRCm39)	missense	probably benign	0.00
R4416:Or6c70	UTSW	10	129,709,826 (GRCm39)	missense	probably benign	0.00
R4453:Or6c70	UTSW	10	129,710,530 (GRCm39)	missense	probably null	0.30
R5194:Or6c70	UTSW	10	129,709,967 (GRCm39)	missense	probably benign	0.00
R5362:Or6c70	UTSW	10	129,710,422 (GRCm39)	missense	probably damaging	1.00
R5609:Or6c70	UTSW	10	129,710,607 (GRCm39)	missense	probably benign	0.01
R5987:Or6c70	UTSW	10	129,710,390 (GRCm39)	missense	probably damaging	0.98
R6240:Or6c70	UTSW	10	129,710,546 (GRCm39)	missense	probably benign
R6896:Or6c70	UTSW	10	129,710,623 (GRCm39)	start codon destroyed	probably null	0.98
R7432:Or6c70	UTSW	10	129,709,719 (GRCm39)	missense	probably benign
R7489:Or6c70	UTSW	10	129,710,551 (GRCm39)	missense	probably damaging	1.00
R7652:Or6c70	UTSW	10	129,710,346 (GRCm39)	missense	probably damaging	0.99
R8316:Or6c70	UTSW	10	129,709,891 (GRCm39)	missense	probably damaging	1.00
R8725:Or6c70	UTSW	10	129,710,092 (GRCm39)	missense	probably damaging	1.00
R8727:Or6c70	UTSW	10	129,710,092 (GRCm39)	missense	probably damaging	1.00
R9089:Or6c70	UTSW	10	129,710,488 (GRCm39)	missense	probably damaging	1.00
R9538:Or6c70	UTSW	10	129,709,762 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGATTTCCTGGAGTACTTTTAGCCTG -3'
(R):5'- GATGGCTTTCATCTTAGCTCTCATG -3'

Sequencing Primer
(F):5'- GGAGTACTTTTAGCCTGTTTAATACC -3'
(R):5'- ATCTTAGCTCTCATGACACTCATTG -3'

Posted On

2016-07-22