Mutagenetix > Incidental Mutation

Incidental Mutation 'R7252:Or6x1'

564008

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

045385-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R7252 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40098375-40099390 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 40098657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 82 (T82I)

Ref Sequence

ENSEMBL: ENSMUSP00000149030 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026693] [ENSMUST00000062229] [ENSMUST00000168691] [ENSMUST00000168832] [ENSMUST00000214763] [ENSMUST00000216720] [ENSMUST00000218134]

AlphaFold

Q8VFN6

Predicted Effect

probably benign
Transcript: ENSMUST00000026693

SMART Domains

Protein: ENSMUSP00000026693
Gene: ENSMUSG00000025602

Domain	Start	End	E-Value	Type
SCAN	42	154	1.19e-75	SMART
KRAB	237	297	1.7e-17	SMART
ZnF_C2H2	391	413	9.44e-2	SMART
ZnF_C2H2	419	441	6.42e-4	SMART
ZnF_C2H2	473	495	3.44e-4	SMART
ZnF_C2H2	501	523	1.47e-3	SMART
ZnF_C2H2	529	551	1.64e-1	SMART
ZnF_C2H2	557	579	3.11e-2	SMART
ZnF_C2H2	585	607	8.47e-4	SMART
ZnF_C2H2	613	635	3.39e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000062229
AA Change: T82I

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000056713
Gene: ENSMUSG00000051095
AA Change: T82I

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

probably benign
Transcript: ENSMUST00000168691

SMART Domains

Protein: ENSMUSP00000130163
Gene: ENSMUSG00000025602

Domain	Start	End	E-Value	Type
SCAN	42	132	1.03e-56	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168832

SMART Domains

Protein: ENSMUSP00000132131
Gene: ENSMUSG00000025602

Domain	Start	End	E-Value	Type
SCAN	42	154	1.19e-75	SMART
KRAB	237	277	5.32e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000214763
AA Change: T82I

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000216720
AA Change: T82I

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000218134
AA Change: T82I

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.1474

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

99% (81/82)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930480E11Rik	G	T	X: 77,414,311 (GRCm39)	M345I	probably benign	Het
Abcc2	T	A	19: 43,816,388 (GRCm39)	I1226N	probably damaging	Het
Adarb2	A	G	13: 8,620,216 (GRCm39)	E234G	probably benign	Het
Ankrd52	T	C	10: 128,217,865 (GRCm39)	S282P	probably damaging	Het
Arhgef12	A	T	9: 42,927,205 (GRCm39)	S306R	probably benign	Het
Baiap2	G	T	11: 119,893,865 (GRCm39)	A514S	probably benign	Het
BC030500	T	A	8: 59,364,838 (GRCm39)		probably null	Het
C1qtnf12	T	A	4: 156,047,072 (GRCm39)	W13R	unknown	Het
Ccdc158	A	G	5: 92,798,647 (GRCm39)	V351A	probably benign	Het
Cct8	T	C	16: 87,281,807 (GRCm39)	E485G	probably benign	Het
Cep85	T	C	4: 133,875,342 (GRCm39)	D542G	probably benign	Het
Clhc1	T	A	11: 29,513,937 (GRCm39)	S340R	probably benign	Het
Cnot4	A	T	6: 35,046,362 (GRCm39)	D168E	probably damaging	Het
Cntn5	G	A	9: 9,831,640 (GRCm39)	T375I	probably benign	Het
Ctc1	T	A	11: 68,917,000 (GRCm39)	I298N	probably damaging	Het
Dchs2	T	A	3: 83,232,610 (GRCm39)	N2198K	probably benign	Het
Ddx6	G	A	9: 44,535,050 (GRCm39)		probably null	Het
Defb11	A	G	8: 22,395,473 (GRCm39)	I68T	probably benign	Het
Dip2a	C	T	10: 76,109,036 (GRCm39)	V1212I	not run	Het
Dop1a	T	A	9: 86,382,874 (GRCm39)	I269N	probably damaging	Het
Efna3	C	T	3: 89,223,971 (GRCm39)	G73S	possibly damaging	Het
Fam98b	C	G	2: 117,094,373 (GRCm39)	R228G	probably damaging	Het
Fancd2	A	T	6: 113,533,246 (GRCm39)	N521I	probably damaging	Het
Farsa	A	G	8: 85,587,957 (GRCm39)	D134G	probably damaging	Het
Fat2	A	T	11: 55,202,088 (GRCm39)	F329I	probably damaging	Het
Gm14399	A	T	2: 174,974,991 (GRCm39)	I43K	probably damaging	Het
Gpr15	A	G	16: 58,538,760 (GRCm39)	S110P	probably damaging	Het
Gpr157	T	C	4: 150,183,331 (GRCm39)	V167A	probably benign	Het
Hacd4	A	G	4: 88,345,000 (GRCm39)	I134T	possibly damaging	Het
Hpgd	T	A	8: 56,751,461 (GRCm39)	N96K	probably damaging	Het
Insm2	A	T	12: 55,647,305 (GRCm39)	T350S	probably benign	Het
Iqch	C	T	9: 63,419,518 (GRCm39)		probably null	Het
Kmt2d	A	G	15: 98,742,147 (GRCm39)	S4338P	unknown	Het
Krtap9-3	A	G	11: 99,488,796 (GRCm39)	S29P	probably benign	Het
Kyat3	T	A	3: 142,426,219 (GRCm39)	S87T	probably benign	Het
Minar2	A	G	18: 59,199,980 (GRCm39)		probably null	Het
Mrpl46	T	C	7: 78,430,336 (GRCm39)	T145A	probably benign	Het
Neb	A	G	2: 52,214,973 (GRCm39)		probably null	Het
Or2aj5	A	T	16: 19,425,249 (GRCm39)	H55Q	probably damaging	Het
Or4c124	T	A	2: 89,156,629 (GRCm39)		probably benign	Het
Or7g17	A	G	9: 18,768,548 (GRCm39)	Y200C	probably damaging	Het
Or9a7	A	G	6: 40,521,703 (GRCm39)	I70T	probably benign	Het
Otogl	T	C	10: 107,657,804 (GRCm39)	D1042G	probably benign	Het
Paxip1	C	T	5: 27,965,084 (GRCm39)	V659I	probably damaging	Het
Pfkl	A	G	10: 77,829,263 (GRCm39)	W382R	probably damaging	Het
Pfn1	A	G	11: 70,545,297 (GRCm39)	W4R	probably damaging	Het
Pik3c2b	G	A	1: 133,022,472 (GRCm39)	R1138H	probably benign	Het
Pkd1l3	A	G	8: 110,387,330 (GRCm39)	D1758G	probably benign	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Pramel29	T	C	4: 143,939,510 (GRCm39)	D9G	possibly damaging	Het
Prdm12	A	G	2: 31,532,386 (GRCm39)	N132S	possibly damaging	Het
Prokr2	T	A	2: 132,223,360 (GRCm39)	M61L	probably benign	Het
Ralgapa2	T	C	2: 146,184,671 (GRCm39)		probably null	Het
Ralgps1	A	T	2: 33,058,200 (GRCm39)	D301E	probably benign	Het
Rcbtb2	T	C	14: 73,404,220 (GRCm39)	Y231H	probably damaging	Het
Rcc2	G	A	4: 140,429,586 (GRCm39)	C40Y	probably benign	Het
Relb	C	A	7: 19,346,538 (GRCm39)	E345*	probably null	Het
Rhbdl3	A	C	11: 80,228,411 (GRCm39)	M294L	possibly damaging	Het
Rpl24	G	A	16: 55,790,479 (GRCm39)	A112T	possibly damaging	Het
Rsbn1l	C	T	5: 21,113,196 (GRCm39)	R442Q	probably damaging	Het
Rxfp3	A	T	15: 11,036,025 (GRCm39)	I449N	probably benign	Het
Sema4c	A	C	1: 36,589,096 (GRCm39)	C677G	probably damaging	Het
Sf3b3	A	C	8: 111,566,562 (GRCm39)	I256S	probably damaging	Het
Shank1	C	T	7: 43,976,585 (GRCm39)	A561V	unknown	Het
Slc39a6	G	T	18: 24,734,442 (GRCm39)	N82K	possibly damaging	Het
Slc3a2	T	C	19: 8,700,521 (GRCm39)		probably benign	Het
Stard13	T	C	5: 150,986,634 (GRCm39)	Q292R	probably benign	Het
Tgm6	A	G	2: 129,986,884 (GRCm39)	R451G	probably damaging	Het
Tspo	G	T	15: 83,456,466 (GRCm39)	G83V	probably damaging	Het
Ubxn10	T	C	4: 138,448,187 (GRCm39)	Q163R	probably benign	Het
Ushbp1	A	G	8: 71,847,246 (GRCm39)	S129P	probably benign	Het
Vmn2r23	T	A	6: 123,718,540 (GRCm39)	V631D	probably damaging	Het
Vmn2r24	T	C	6: 123,764,191 (GRCm39)	I356T	possibly damaging	Het
Vmn2r84	C	T	10: 130,222,279 (GRCm39)	C647Y	probably damaging	Het
Vps13a	T	C	19: 16,638,428 (GRCm39)	E2356G	probably benign	Het
Wdr64	A	G	1: 175,603,240 (GRCm39)	T614A	probably benign	Het
Zdhhc16	G	T	19: 41,929,990 (GRCm39)	W271L	probably damaging	Het
Zer1	A	C	2: 29,991,904 (GRCm39)	S652A	probably damaging	Het
Zfp287	A	G	11: 62,615,655 (GRCm39)	V224A	probably damaging	Het
Zfp438	A	T	18: 5,214,874 (GRCm39)	L28*	probably null	Het
Zfp830	G	A	11: 82,655,534 (GRCm39)	A113T	probably benign	Het
Zfp865	G	T	7: 5,037,416 (GRCm39)		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
R1411:Or6x1	UTSW	9	40,098,435 (GRCm39)	missense	possibly damaging	0.93
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
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'- TCAGAAGCCCTTCTCTTCATAGTG -3'
(R):5'- ACAATGGTGAAGCCTGCTAGC -3'

Sequencing Primer
(F):5'- AGCCCTTCTCTTCATAGTGATCTTTC -3'
(R):5'- CCAGCTGTAGGCAGAGATTG -3'

Posted On

2019-06-26