Mutagenetix > Incidental Mutation

Incidental Mutation 'R5450:Or4x6'

478319

Institutional Source

Beutler Lab

Gene Symbol

Or4x6

Ensembl Gene

ENSMUSG00000084336

Gene Name

olfactory receptor family 4 subfamily X member 6

Synonyms

GA_x6K02T2Q125-51551618-51550689, Olfr1269, MOR228-3

MMRRC Submission

043015-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R5450 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89949011-89949940 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 89949013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 310 (*310Q)

Ref Sequence

ENSEMBL: ENSMUSP00000150470 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099756] [ENSMUST00000117787] [ENSMUST00000214404] [ENSMUST00000216493]

AlphaFold

Q8VEZ2

Predicted Effect

probably null
Transcript: ENSMUST00000099756
AA Change: *310Q

SMART Domains

Protein: ENSMUSP00000097345
Gene: ENSMUSG00000084336
AA Change: *310Q

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	3.8e-50	PFAM
Pfam:7TM_GPCR_Srsx	33	300	1.2e-5	PFAM
Pfam:7tm_1	39	285	5.9e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117787

Predicted Effect

probably null
Transcript: ENSMUST00000214404
AA Change: *310Q

Predicted Effect

probably null
Transcript: ENSMUST00000216493
AA Change: *310Q

Meta Mutation Damage Score

0.8314

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (74/76)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Arhgef4	T	G	1: 34,846,405 (GRCm39)		probably benign	Het
Atg14	T	C	14: 47,788,921 (GRCm39)	N144S	probably benign	Het
Cacna1h	A	T	17: 25,602,160 (GRCm39)	M1454K	probably damaging	Het
Catsperb	A	T	12: 101,412,327 (GRCm39)	H138L	possibly damaging	Het
Cd200r2	T	A	16: 44,729,934 (GRCm39)	D159E	probably benign	Het
Cd79a	G	T	7: 24,598,687 (GRCm39)	G79C	probably damaging	Het
Ceacam20	A	G	7: 19,712,133 (GRCm39)	H38R	possibly damaging	Het
Cers1	T	C	8: 70,770,947 (GRCm39)	L119P	probably damaging	Het
Ces1f	C	A	8: 93,992,423 (GRCm39)	V343L	probably benign	Het
Ces3a	G	A	8: 105,784,550 (GRCm39)	G511S	possibly damaging	Het
Cyfip2	A	G	11: 46,175,079 (GRCm39)	C98R	probably benign	Het
Cyp2j11	C	A	4: 96,228,113 (GRCm39)	V169L	probably benign	Het
Cyp4f17	A	G	17: 32,747,860 (GRCm39)	T523A	probably benign	Het
Ddx31	T	C	2: 28,776,981 (GRCm39)	S567P	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dsg1b	A	C	18: 20,542,121 (GRCm39)	H876P	probably damaging	Het
Edrf1	G	T	7: 133,260,339 (GRCm39)	M83I	probably damaging	Het
Eno4	T	C	19: 58,948,679 (GRCm39)	F393S	possibly damaging	Het
Eral1	C	T	11: 77,969,183 (GRCm39)	D106N	probably benign	Het
Esp18	G	T	17: 39,719,070 (GRCm39)	R23M	probably benign	Het
Fam184b	C	T	5: 45,697,143 (GRCm39)	V674I	probably benign	Het
Fbxw13	A	C	9: 109,013,225 (GRCm39)	N154K	probably benign	Het
Gtpbp6	A	G	5: 110,254,991 (GRCm39)	V130A	probably damaging	Het
Hc	T	C	2: 34,903,050 (GRCm39)	D1067G	possibly damaging	Het
Ighg1	A	T	12: 113,294,126 (GRCm39)	S6T	unknown	Het
Ikzf3	C	T	11: 98,357,912 (GRCm39)	R475H	probably damaging	Het
Itprid1	T	A	6: 55,945,796 (GRCm39)		probably null	Het
Kcmf1	A	T	6: 72,819,913 (GRCm39)	L311*	probably null	Het
Kmt2d	C	A	15: 98,752,967 (GRCm39)	E184D	probably damaging	Het
Lrguk	A	T	6: 34,047,996 (GRCm39)	I314F	probably damaging	Het
Maml2	A	C	9: 13,617,763 (GRCm39)	S370R	probably damaging	Het
Mroh1	C	A	15: 76,316,547 (GRCm39)		probably benign	Het
Mx1	A	T	16: 97,255,347 (GRCm39)	Y235*	probably null	Het
Pamr1	T	G	2: 102,469,662 (GRCm39)	Y403D	probably damaging	Het
Panx2	A	G	15: 88,953,162 (GRCm39)	E551G	possibly damaging	Het
Patl2	A	G	2: 121,955,762 (GRCm39)	V258A	probably benign	Het
Ppm1m	A	G	9: 106,074,041 (GRCm39)	F255L	probably benign	Het
Prpf40a	G	T	2: 53,046,938 (GRCm39)	T266N	possibly damaging	Het
Psg18	T	A	7: 18,087,350 (GRCm39)	I103F	probably benign	Het
Rpl39-ps	A	G	15: 102,543,583 (GRCm39)		noncoding transcript	Het
Rps6kb1	A	T	11: 86,423,663 (GRCm39)	F106I	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Sardh	G	T	2: 27,129,710 (GRCm39)	T245K	possibly damaging	Het
Shprh	T	G	10: 11,088,074 (GRCm39)	I1619S	possibly damaging	Het
Skint1	G	A	4: 111,882,729 (GRCm39)	V258I	probably benign	Het
Slc27a5	T	C	7: 12,728,869 (GRCm39)	D331G	probably benign	Het
Slc29a2	A	G	19: 5,079,303 (GRCm39)	I309V	probably benign	Het
Slc30a5	C	T	13: 100,957,680 (GRCm39)	V130I	possibly damaging	Het
Slc4a3	C	A	1: 75,529,300 (GRCm39)	A531D	probably damaging	Het
Slc6a16	C	T	7: 44,910,672 (GRCm39)	T399I	probably benign	Het
Slitrk6	T	A	14: 110,987,529 (GRCm39)	H726L	probably benign	Het
Snx2	A	G	18: 53,343,784 (GRCm39)	K309R	probably damaging	Het
Speer4f2	T	A	5: 17,578,217 (GRCm39)	C4S	possibly damaging	Het
Sulf1	T	C	1: 12,867,131 (GRCm39)	V105A	probably benign	Het
Tcstv7a	A	T	13: 120,289,899 (GRCm39)	V99E	probably damaging	Het
Tmem8b	G	A	4: 43,673,992 (GRCm39)	V208I	probably benign	Het
Vmn1r47	T	C	6: 89,999,195 (GRCm39)	L109P	probably damaging	Het
Vmn1r73	C	A	7: 11,490,376 (GRCm39)	Q65K	possibly damaging	Het
Vmn1r76	T	C	7: 11,664,611 (GRCm39)	Y166C	probably damaging	Het
Vmn2r2	T	C	3: 64,034,011 (GRCm39)	T504A	probably benign	Het
Wdr75	C	A	1: 45,851,324 (GRCm39)	A300E	probably benign	Het
Yars1	A	G	4: 129,091,039 (GRCm39)	E149G	possibly damaging	Het
Zbtb18	T	C	1: 177,274,771 (GRCm39)	F35L	probably damaging	Het
Zfp366	A	G	13: 99,366,093 (GRCm39)	Y418C	probably damaging	Het

Other mutations in Or4x6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01389:Or4x6	APN	2	89,949,412 (GRCm39)	missense	probably damaging	1.00
IGL01518:Or4x6	APN	2	89,949,315 (GRCm39)	missense	possibly damaging	0.95
IGL01889:Or4x6	APN	2	89,949,309 (GRCm39)	missense	possibly damaging	0.84
IGL02629:Or4x6	APN	2	89,949,201 (GRCm39)	nonsense	probably null
R0732:Or4x6	UTSW	2	89,949,666 (GRCm39)	missense	probably benign	0.20
R1446:Or4x6	UTSW	2	89,949,202 (GRCm39)	missense	probably damaging	0.98
R1938:Or4x6	UTSW	2	89,949,427 (GRCm39)	missense	probably damaging	0.97
R4526:Or4x6	UTSW	2	89,949,016 (GRCm39)	missense	probably benign	0.01
R4786:Or4x6	UTSW	2	89,949,351 (GRCm39)	missense	possibly damaging	0.95
R4792:Or4x6	UTSW	2	89,949,174 (GRCm39)	missense	possibly damaging	0.95
R4925:Or4x6	UTSW	2	89,949,121 (GRCm39)	missense	probably damaging	1.00
R5152:Or4x6	UTSW	2	89,949,465 (GRCm39)	missense	probably damaging	0.98
R5296:Or4x6	UTSW	2	89,949,043 (GRCm39)	missense	probably damaging	0.97
R5536:Or4x6	UTSW	2	89,949,183 (GRCm39)	missense	probably benign	0.00
R7572:Or4x6	UTSW	2	89,949,087 (GRCm39)	missense	probably damaging	1.00
R7695:Or4x6	UTSW	2	89,949,207 (GRCm39)	missense	probably benign	0.08
R7879:Or4x6	UTSW	2	89,949,185 (GRCm39)	nonsense	probably null
R7938:Or4x6	UTSW	2	89,949,173 (GRCm39)	nonsense	probably null
R8280:Or4x6	UTSW	2	89,949,742 (GRCm39)	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- CTATCAGGAGTGCATTTGTAAGAC -3'
(R):5'- GTCCATGTGTCTTCATCTATTTGAG -3'

Sequencing Primer
(F):5'- TTCTGCTGTAAATACTTGCTACAG -3'
(R):5'- AGGCCTTCTGATACCCTACCTGTAG -3'

Posted On

2017-06-23