Mutagenetix > Incidental Mutation

Incidental Mutation 'R1411:Or6x1'

200811

Institutional Source

Beutler Lab

Gene Symbol

Or6x1

Ensembl Gene

ENSMUSG00000051095

Gene Name

olfactory receptor family 6 subfamily X member 1

Synonyms

MOR104-3, GA_x6K02T2PVTD-33886895-33887833, Olfr986

MMRRC Submission

039467-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R1411 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40098375-40099390 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 40098435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 8 (T8I)

Ref Sequence

ENSEMBL: ENSMUSP00000152019 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062229] [ENSMUST00000214763] [ENSMUST00000216720] [ENSMUST00000218134]

AlphaFold

Q8VFN6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062229
AA Change: T8I

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000056713
Gene: ENSMUSG00000051095
AA Change: T8I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	5.1e-54	PFAM
Pfam:7tm_1	39	288	3.7e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214763
AA Change: T8I

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216720
AA Change: T8I

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218134
AA Change: T8I

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.4737

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

100% (46/46)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	T	A	8: 71,914,374 (GRCm39)	I85F	probably damaging	Het
Acp4	A	G	7: 43,906,267 (GRCm39)		probably benign	Het
Baz1b	T	C	5: 135,259,177 (GRCm39)	F1080L	possibly damaging	Het
Cbx5	A	T	15: 103,121,547 (GRCm39)	M30K	probably benign	Het
Cdc73	A	G	1: 143,485,252 (GRCm39)		probably benign	Het
Cdcp1	A	T	9: 123,019,177 (GRCm39)	L34Q	probably damaging	Het
Chd8	C	T	14: 52,462,103 (GRCm39)	V738I	probably benign	Het
Cpeb2	T	G	5: 43,391,113 (GRCm39)		probably benign	Het
Cyp2c67	T	A	19: 39,627,035 (GRCm39)	D265V	probably damaging	Het
Cyp2j11	A	G	4: 96,233,453 (GRCm39)	I81T	probably benign	Het
Dbx2	T	C	15: 95,530,262 (GRCm39)	E235G	probably damaging	Het
Dgkq	C	A	5: 108,798,228 (GRCm39)	V677F	probably damaging	Het
Ercc5	A	G	1: 44,217,441 (GRCm39)	N928S	probably damaging	Het
Flt1	C	T	5: 147,517,126 (GRCm39)	V1054M	probably damaging	Het
Flywch1	T	C	17: 23,974,798 (GRCm39)	D614G	probably damaging	Het
Frmd3	T	C	4: 74,071,858 (GRCm39)	F247L	probably damaging	Het
Gm1527	A	G	3: 28,968,632 (GRCm39)	N228S	probably benign	Het
Gpld1	T	A	13: 25,146,791 (GRCm39)	L251Q	probably damaging	Het
Gvin-ps3	C	T	7: 105,682,686 (GRCm39)	A190T	probably benign	Het
Gzma	C	T	13: 113,232,742 (GRCm39)	V117I	probably benign	Het
Hydin	C	A	8: 111,301,663 (GRCm39)	T3798K	probably benign	Het
Il1rapl1	T	A	X: 85,790,904 (GRCm39)	S679C	possibly damaging	Het
Lrrc8c	G	A	5: 105,756,045 (GRCm39)	A607T	probably damaging	Het
Ltbp1	A	G	17: 75,532,280 (GRCm39)	Q118R	possibly damaging	Het
Mfsd4b4	A	T	10: 39,768,136 (GRCm39)	M319K	probably damaging	Het
Mroh2b	A	C	15: 4,947,799 (GRCm39)	H538P	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nup188	A	G	2: 30,233,807 (GRCm39)	T1733A	probably benign	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Ofcc1	A	G	13: 40,296,263 (GRCm39)	S524P	probably benign	Het
Padi4	C	T	4: 140,479,914 (GRCm39)	S413N	probably damaging	Het
Pdzrn4	A	G	15: 92,668,894 (GRCm39)	*1015W	probably null	Het
Pkhd1	G	A	1: 20,444,120 (GRCm39)	P2314L	probably damaging	Het
Serpinb9c	C	G	13: 33,335,817 (GRCm39)	V212L	probably benign	Het
Slc25a23	A	G	17: 57,366,622 (GRCm39)	F18L	probably damaging	Het
Smarca4	C	A	9: 21,570,251 (GRCm39)	N751K	probably damaging	Het
Tfip11	G	T	5: 112,480,899 (GRCm39)	V292L	probably benign	Het
Tnrc18	T	C	5: 142,751,702 (GRCm39)	K1201R	unknown	Het
Vmn1r199	T	C	13: 22,567,671 (GRCm39)	F322L	probably benign	Het
Vmn1r201	T	C	13: 22,658,849 (GRCm39)	V21A	probably benign	Het
Vmn2r108	A	T	17: 20,683,107 (GRCm39)	I699K	probably damaging	Het
Vmn2r117	T	C	17: 23,679,527 (GRCm39)	N566D	probably damaging	Het
Wdr12	A	T	1: 60,127,231 (GRCm39)	D141E	probably benign	Het
Zfp974	A	G	7: 27,610,634 (GRCm39)	S364P	probably benign	Het

Other mutations in Or6x1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01063:Or6x1	APN	9	40,099,052 (GRCm39)	missense	probably benign	0.01
IGL02342:Or6x1	APN	9	40,098,823 (GRCm39)	missense	probably benign
IGL02961:Or6x1	APN	9	40,098,897 (GRCm39)	missense	probably benign	0.00
R0379:Or6x1	UTSW	9	40,098,729 (GRCm39)	missense	probably damaging	1.00
R1712:Or6x1	UTSW	9	40,099,161 (GRCm39)	missense	probably damaging	1.00
R1818:Or6x1	UTSW	9	40,098,558 (GRCm39)	missense	probably benign
R2249:Or6x1	UTSW	9	40,098,980 (GRCm39)	missense	possibly damaging	0.59
R3162:Or6x1	UTSW	9	40,098,901 (GRCm39)	missense	probably benign	0.02
R3162:Or6x1	UTSW	9	40,098,901 (GRCm39)	missense	probably benign	0.02
R5071:Or6x1	UTSW	9	40,098,960 (GRCm39)	missense	probably damaging	1.00
R5464:Or6x1	UTSW	9	40,099,080 (GRCm39)	missense	probably damaging	1.00
R5475:Or6x1	UTSW	9	40,099,005 (GRCm39)	missense	possibly damaging	0.84
R5695:Or6x1	UTSW	9	40,098,897 (GRCm39)	missense	probably benign	0.00
R5878:Or6x1	UTSW	9	40,098,867 (GRCm39)	missense	probably benign	0.02
R6978:Or6x1	UTSW	9	40,099,085 (GRCm39)	missense	probably damaging	1.00
R7252:Or6x1	UTSW	9	40,098,657 (GRCm39)	missense	probably benign	0.25
R8040:Or6x1	UTSW	9	40,098,717 (GRCm39)	missense	probably damaging	0.97
R8410:Or6x1	UTSW	9	40,098,732 (GRCm39)	missense	possibly damaging	0.93
R8726:Or6x1	UTSW	9	40,098,663 (GRCm39)	missense	probably damaging	0.96
R8829:Or6x1	UTSW	9	40,099,209 (GRCm39)	missense	probably benign	0.42

Predicted Primers

PCR Primer
(F):5'- AGCCATGTCCTGAAGGACCATAGATAC -3'
(R):5'- ACCAGATCTCTAGGAAGGCTAAGTTGC -3'

Sequencing Primer
(F):5'- gagagagagagggagggag -3'
(R):5'- TCTAGGAAGGCTAAGTTGCAAAGG -3'

Posted On

2014-05-23