Mutagenetix > Incidental Mutation

Incidental Mutation 'R5475:Or6x1'

434027

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

043036-MU

Accession Numbers

Essential gene?

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

Stock #

R5475 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40098375-40099390 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40099005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 198 (L198H)

Ref Sequence

ENSEMBL: ENSMUSP00000152019 (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

possibly damaging
Transcript: ENSMUST00000062229
AA Change: L198H

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000056713
Gene: ENSMUSG00000051095
AA Change: L198H

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

possibly damaging
Transcript: ENSMUST00000214763
AA Change: L198H

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216720
AA Change: L198H

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218134
AA Change: L198H

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.3%
3x: 97.4%
10x: 95.5%
20x: 91.8%

Validation Efficiency

96% (72/75)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
AA467197	A	G	2: 122,482,646 (GRCm39)	K70R	probably damaging	Het
Agr3	A	G	12: 35,997,539 (GRCm39)	N83S	probably benign	Het
Alpk2	T	C	18: 65,440,083 (GRCm39)	T904A	probably benign	Het
Ank	A	T	15: 27,557,285 (GRCm39)	K156N	probably damaging	Het
Arsb	T	G	13: 93,998,773 (GRCm39)	D360E	probably benign	Het
Atg14	C	T	14: 47,805,793 (GRCm39)	R24Q	possibly damaging	Het
Cacna1e	A	T	1: 154,601,455 (GRCm39)	F71I	possibly damaging	Het
Cdc42bpg	T	C	19: 6,361,101 (GRCm39)	I242T	probably damaging	Het
Cngb1	A	T	8: 95,978,597 (GRCm39)	I588N	probably damaging	Het
Col6a6	T	C	9: 105,651,537 (GRCm39)	H1158R	probably null	Het
Cse1l	T	C	2: 166,783,174 (GRCm39)	S684P	probably damaging	Het
Cyp2c29	A	T	19: 39,318,731 (GRCm39)	M404L	possibly damaging	Het
D5Ertd579e	G	T	5: 36,772,601 (GRCm39)	S598Y	probably damaging	Het
Dph7	A	T	2: 24,858,969 (GRCm39)		probably null	Het
Dsg1c	A	T	18: 20,415,088 (GRCm39)	N662Y	probably damaging	Het
Efcab9	T	G	11: 32,472,862 (GRCm39)	D195A	probably damaging	Het
Ephb4	A	G	5: 137,352,701 (GRCm39)	M95V	probably benign	Het
Fam171a1	A	T	2: 3,226,334 (GRCm39)	Y489F	possibly damaging	Het
Fars2	T	C	13: 36,388,553 (GRCm39)	I14T	probably benign	Het
Fbxo34	T	C	14: 47,766,802 (GRCm39)	V54A	probably benign	Het
Fbxw17	T	C	13: 50,579,684 (GRCm39)	I167T	probably benign	Het
Fzd9	A	T	5: 135,279,123 (GRCm39)		probably null	Het
Gm26996	T	A	6: 130,556,918 (GRCm39)		noncoding transcript	Het
Gm4744	A	G	6: 40,927,388 (GRCm39)		probably benign	Het
Gm4744	T	A	6: 40,927,403 (GRCm39)		probably benign	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Has1	C	A	17: 18,068,583 (GRCm39)	R257L	possibly damaging	Het
Hjv	T	C	3: 96,434,599 (GRCm39)	S113P	probably benign	Het
Hsd17b8	C	T	17: 34,246,287 (GRCm39)		probably benign	Het
Kat2b	T	G	17: 53,970,609 (GRCm39)	V665G	probably damaging	Het
Klhdc4	T	A	8: 122,526,311 (GRCm39)	H276L	possibly damaging	Het
Klhl6	A	T	16: 19,766,877 (GRCm39)	C506S	probably damaging	Het
Ldb2	T	C	5: 44,699,174 (GRCm39)	Y88C	probably damaging	Het
Lrit1	A	G	14: 36,776,958 (GRCm39)	E26G	probably benign	Het
Mcoln2	A	G	3: 145,889,541 (GRCm39)	Y414C	probably damaging	Het
Mfsd5	A	G	15: 102,188,928 (GRCm39)	D100G	probably damaging	Het
Micall2	T	A	5: 139,702,224 (GRCm39)	S340C	probably damaging	Het
Npsr1	T	C	9: 24,211,715 (GRCm39)	I81T	probably damaging	Het
Or2bd2	G	T	7: 6,443,169 (GRCm39)	R90L	probably benign	Het
Or2t49	A	G	11: 58,392,431 (GRCm39)	V317A	probably benign	Het
Or8b56	T	A	9: 38,739,762 (GRCm39)	F258L	possibly damaging	Het
Pax3	T	C	1: 78,080,055 (GRCm39)	T444A	probably benign	Het
Pea15a	A	G	1: 172,026,809 (GRCm39)		probably null	Het
Phc1	T	A	6: 122,311,051 (GRCm39)	Q95L	possibly damaging	Het
Plch2	T	C	4: 155,084,594 (GRCm39)	Y361C	probably damaging	Het
Pphln1-ps1	A	T	16: 13,494,977 (GRCm39)	R25S	possibly damaging	Het
Rad54l2	C	T	9: 106,583,057 (GRCm39)	G787D	probably damaging	Het
Rbm20	G	T	19: 53,823,136 (GRCm39)	E578*	probably null	Het
Sipa1l2	A	T	8: 126,218,334 (GRCm39)	D334E	probably damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Thumpd1	A	G	7: 119,319,943 (GRCm39)	S8P	probably benign	Het
Tnxb	T	C	17: 34,908,567 (GRCm39)	Y1407H	probably damaging	Het
Trav2	T	A	14: 52,805,290 (GRCm39)	V37E	probably damaging	Het
Trav3-1	G	T	14: 52,818,494 (GRCm39)	W56L	probably damaging	Het
Usp31	A	T	7: 121,250,749 (GRCm39)	L808Q	probably damaging	Het
Vmn1r52	C	T	6: 90,155,894 (GRCm39)	A66V	probably benign	Het
Vmn2r105	T	A	17: 20,455,044 (GRCm39)	I31L	probably benign	Het
Wdr1	C	T	5: 38,686,931 (GRCm39)	G278S	probably damaging	Het
Zbtb2	G	T	10: 4,319,275 (GRCm39)	F250L	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
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'- GCTACCTGGCCATCTGTAAG -3'
(R):5'- TAAACAAGACAGCTCCGTAGAG -3'

Sequencing Primer
(F):5'- GCAATCTCTGCCTACAGCTGG -3'
(R):5'- TCCGTAGAGCAGAGAGACTACTGTC -3'

Posted On

2016-10-06