Mutagenetix > Incidental Mutation

Incidental Mutation 'R4086:Or6c70'

317376

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

041625-MU

Accession Numbers

Essential gene?

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

Stock #

R4086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129709692-129710624 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129710167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 153 (V153A)

Ref Sequence

ENSEMBL: ENSMUSP00000150458 (fasta)

Gene Model

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

AlphaFold

Q7TRH4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081367
AA Change: V153A

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000080106
Gene: ENSMUSG00000059134
AA Change: V153A

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

possibly damaging
Transcript: ENSMUST00000213742
AA Change: V153A

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216966
AA Change: V153A

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (58/58)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd7	G	A	2: 3,341,488 (GRCm39)		probably null	Het
Acss3	T	G	10: 106,889,313 (GRCm39)	Y169S	probably damaging	Het
Adcy7	A	G	8: 89,042,414 (GRCm39)	D427G	probably benign	Het
Adrm1	A	G	2: 179,814,627 (GRCm39)		probably benign	Het
Arfgef1	T	C	1: 10,233,984 (GRCm39)	I1103M	probably benign	Het
Arhgap32	A	C	9: 32,158,362 (GRCm39)		probably benign	Het
Arhgef28	T	C	13: 98,103,712 (GRCm39)	R767G	probably damaging	Het
BC046251	A	G	7: 65,231,896 (GRCm39)		noncoding transcript	Het
Brwd1	T	C	16: 95,847,572 (GRCm39)	S683G	probably benign	Het
Calcoco1	C	G	15: 102,618,834 (GRCm39)		probably benign	Het
Carmil1	G	T	13: 24,208,444 (GRCm39)	P834T	possibly damaging	Het
Cldn34c4	A	T	X: 126,629,011 (GRCm39)	V153E	probably damaging	Het
Col24a1	G	A	3: 145,167,192 (GRCm39)	G1090R	probably damaging	Het
Csmd1	T	A	8: 16,042,738 (GRCm39)	I2332F	probably damaging	Het
Ets2	C	A	16: 95,510,833 (GRCm39)	D30E	probably damaging	Het
Fam181b	T	C	7: 92,729,788 (GRCm39)	V187A	probably benign	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fbxo41	C	T	6: 85,455,528 (GRCm39)	R552Q	possibly damaging	Het
Fstl5	G	T	3: 76,555,593 (GRCm39)	C53F	probably damaging	Het
Ftsj3	T	C	11: 106,140,395 (GRCm39)	Y791C	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm15446	A	G	5: 110,091,121 (GRCm39)	K458E	probably benign	Het
Hecw2	T	C	1: 53,870,815 (GRCm39)	I1389V	probably damaging	Het
Ipo9	A	G	1: 135,316,428 (GRCm39)		probably benign	Het
Krtap31-1	C	T	11: 99,799,145 (GRCm39)	T116I	possibly damaging	Het
Mafa	T	G	15: 75,618,986 (GRCm39)	K262N	probably damaging	Het
Nxph4	T	C	10: 127,362,555 (GRCm39)	Y112C	probably damaging	Het
Or5ak4	C	A	2: 85,162,170 (GRCm39)	W24L	probably benign	Het
Pgls	G	A	8: 72,048,734 (GRCm39)	A142T	probably damaging	Het
Phlpp1	A	G	1: 106,274,891 (GRCm39)	I885V	probably benign	Het
Prkcq	A	G	2: 11,288,679 (GRCm39)	D544G	probably damaging	Het
Rnf44	T	C	13: 54,830,148 (GRCm39)	N254D	possibly damaging	Het
Septin10	A	T	10: 59,028,045 (GRCm39)	L92*	probably null	Het
Slc14a2	A	T	18: 78,248,998 (GRCm39)	I156N	probably damaging	Het
Sos1	A	G	17: 80,756,781 (GRCm39)	V257A	probably benign	Het
Sypl2	A	G	3: 108,124,992 (GRCm39)	I123T	possibly damaging	Het
Thap12	A	G	7: 98,365,701 (GRCm39)	D623G	possibly damaging	Het
Traf3ip3	A	G	1: 192,863,628 (GRCm39)	V414A	probably damaging	Het
Trim14	T	A	4: 46,523,709 (GRCm39)	T110S	probably benign	Het
Trim30d	T	C	7: 104,137,007 (GRCm39)	N66D	probably damaging	Het
Trim65	G	A	11: 116,017,305 (GRCm39)	Q386*	probably null	Het
Ube2u	T	A	4: 100,407,039 (GRCm39)	I187N	probably benign	Het
Vmn1r90	G	A	7: 14,297,219 (GRCm39)		probably benign	Het
Wbp2nl	A	G	15: 82,192,762 (GRCm39)	M149V	probably benign	Het
Xpo4	C	T	14: 57,880,490 (GRCm39)		probably benign	Het
Zbtb21	A	T	16: 97,753,963 (GRCm39)	Y135N	probably damaging	Het
Zbtb22	T	A	17: 34,137,142 (GRCm39)	V429D	probably damaging	Het
Zfp281	T	A	1: 136,553,859 (GRCm39)	I279N	probably damaging	Het
Zhx1	T	C	15: 57,916,317 (GRCm39)	E643G	possibly damaging	Het
Zzef1	C	T	11: 72,765,879 (GRCm39)	H1469Y	probably benign	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
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
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'- TCTTTTGCTGAGCAGAAGGG -3'
(R):5'- CACTATTGTAACACAGGAGAAGAC -3'

Sequencing Primer
(F):5'- TGTCTTGACAATGTGAGCATAAG -3'
(R):5'- GGAGAAGACAATTTCCTATAATGGC -3'

Posted On

2015-05-15