Mutagenetix > Incidental Mutation

Incidental Mutation 'R6240:Or6c70'

505188

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

044364-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R6240 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129709692-129710624 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 129710546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 27 (V27L)

Ref Sequence

ENSEMBL: ENSMUSP00000150458 (fasta)

Gene Model

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

AlphaFold

Q7TRH4

Predicted Effect

probably benign
Transcript: ENSMUST00000081367
AA Change: V27L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000080106
Gene: ENSMUSG00000059134
AA Change: V27L

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 benign
Transcript: ENSMUST00000213742
AA Change: V27L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000216966
AA Change: V27L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

98% (62/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	A	14: 64,223,701 (GRCm39)	R25L	probably damaging	Het
Adamts1	G	A	16: 85,599,045 (GRCm39)	S185L	probably benign	Het
Adamts12	A	T	15: 11,286,044 (GRCm39)	D751V	probably benign	Het
Adgrg3	A	G	8: 95,766,544 (GRCm39)	D405G	probably benign	Het
Ahi1	A	G	10: 20,852,980 (GRCm39)	D516G	probably damaging	Het
Ahnak	A	T	19: 8,990,947 (GRCm39)	D4077V	probably damaging	Het
Arhgef18	G	A	8: 3,489,658 (GRCm39)	R330Q	probably damaging	Het
Arid1a	A	G	4: 133,407,997 (GRCm39)	V2170A	unknown	Het
Asxl3	C	T	18: 22,598,565 (GRCm39)	L227F	probably damaging	Het
B3glct	A	G	5: 149,650,253 (GRCm39)	I119V	probably benign	Het
Brd10	A	T	19: 29,694,640 (GRCm39)	S1618T	probably benign	Het
Cad	T	A	5: 31,230,322 (GRCm39)	M1512K	probably benign	Het
Cdc25a	A	G	9: 109,713,226 (GRCm39)	T172A	probably damaging	Het
Cdh18	A	G	15: 23,227,022 (GRCm39)	D161G	possibly damaging	Het
Clmp	A	G	9: 40,693,707 (GRCm39)	N308S	probably damaging	Het
Dlg5	A	T	14: 24,199,596 (GRCm39)		probably null	Het
Dscam	G	A	16: 96,420,702 (GRCm39)	T1728M	probably damaging	Het
E4f1	A	G	17: 24,663,556 (GRCm39)	S524P	possibly damaging	Het
Epha5	G	C	5: 84,265,438 (GRCm39)	A452G	probably benign	Het
Fzd3	T	C	14: 65,447,304 (GRCm39)	T542A	probably damaging	Het
Glyctk	A	T	9: 106,033,461 (GRCm39)		probably null	Het
Gm10382	G	A	5: 125,466,660 (GRCm39)		probably benign	Het
Hnmt	T	A	2: 23,904,281 (GRCm39)	M127L	probably benign	Het
Hoxc10	T	A	15: 102,879,265 (GRCm39)	W262R	probably damaging	Het
Icam5	T	A	9: 20,944,454 (GRCm39)	W52R	possibly damaging	Het
Jazf1	A	T	6: 52,754,537 (GRCm39)	C180S	probably damaging	Het
Kcnk2	A	G	1: 188,975,179 (GRCm39)	W286R	probably damaging	Het
Kcnmb2	C	T	3: 32,236,045 (GRCm39)	S98F	probably damaging	Het
Mob3a	C	G	10: 80,525,698 (GRCm39)	E204D	possibly damaging	Het
Morc3	C	G	16: 93,659,572 (GRCm39)	H459D	probably damaging	Het
Mroh2b	A	T	15: 4,964,126 (GRCm39)	N876I	probably benign	Het
Myo16	A	T	8: 10,420,930 (GRCm39)	T257S	probably damaging	Het
Nat1	A	T	8: 67,944,354 (GRCm39)	R243S	possibly damaging	Het
Nudt9	T	C	5: 104,194,955 (GRCm39)	V17A	probably benign	Het
Or13p8	A	G	4: 118,583,668 (GRCm39)	S75G	probably benign	Het
Or4c111	A	G	2: 88,843,970 (GRCm39)	I146T	probably benign	Het
Or4c11c	A	G	2: 88,661,707 (GRCm39)	D82G	probably benign	Het
Or4m1	A	G	14: 50,558,043 (GRCm39)	V83A	probably benign	Het
Pcdh7	T	C	5: 57,878,704 (GRCm39)	L753P	probably damaging	Het
Pcf11	T	A	7: 92,295,710 (GRCm39)	E1446D	probably damaging	Het
Pepd	A	G	7: 34,721,176 (GRCm39)	I267V	probably benign	Het
Plk2	T	A	13: 110,536,008 (GRCm39)	Y571N	probably damaging	Het
Plk2	T	A	13: 110,536,568 (GRCm39)	V620E	probably damaging	Het
Prag1	T	C	8: 36,570,506 (GRCm39)	L363P	probably benign	Het
Psmd3	A	G	11: 98,584,479 (GRCm39)	T387A	probably damaging	Het
Ptgs1	G	A	2: 36,127,297 (GRCm39)	C61Y	probably damaging	Het
Rab18	T	C	18: 6,784,635 (GRCm39)	Y109H	probably benign	Het
Robo2	G	A	16: 73,779,027 (GRCm39)	P358L	probably damaging	Het
Smarcc2	C	T	10: 128,323,893 (GRCm39)		probably benign	Het
Spata31e4	G	A	13: 50,855,453 (GRCm39)	D364N	probably damaging	Het
Srgap1	A	G	10: 121,883,061 (GRCm39)	I13T	probably benign	Het
Tcf12	T	A	9: 71,851,298 (GRCm39)	K110*	probably null	Het
Tdrd1	T	C	19: 56,829,767 (GRCm39)	S214P	probably benign	Het
Tdrd3	T	A	14: 87,743,322 (GRCm39)	N417K	probably damaging	Het
Tmem255b	A	G	8: 13,504,216 (GRCm39)	Y136C	probably damaging	Het
Tmem63c	A	T	12: 87,123,179 (GRCm39)	I448F	possibly damaging	Het
Tnpo1	T	C	13: 99,000,337 (GRCm39)	I335M	probably damaging	Het
Vmn1r1	T	C	1: 181,985,186 (GRCm39)	T160A	probably damaging	Het
Vmn1r203	A	G	13: 22,708,899 (GRCm39)	N227D	possibly damaging	Het
Vmn2r6	T	A	3: 64,464,226 (GRCm39)	S203C	probably damaging	Het
Zfp628	A	G	7: 4,922,848 (GRCm39)	T357A	possibly damaging	Het
Zfp872	A	G	9: 22,111,180 (GRCm39)	K220E	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
R5306:Or6c70	UTSW	10	129,709,810 (GRCm39)	missense	probably damaging	0.97
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
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'- GGAAATTGTCTTCTCCTGTGTTAC -3'
(R):5'- ATATTTGAAAGGGCTGTGCTAAGG -3'

Sequencing Primer
(F):5'- GTCTTCTCCTGTGTTACAATAGTG -3'
(R):5'- GCTGTGCTAAGGAATATGGATCC -3'

Posted On

2018-02-28