Mutagenetix > Incidental Mutation

Incidental Mutation 'R7508:Or2b6'

581913

Institutional Source

Beutler Lab

Gene Symbol

Or2b6

Ensembl Gene

ENSMUSG00000036658

Gene Name

olfactory receptor family 2 subfamily B member 6

Synonyms

GA_x6K02T2QHY8-11597382-11598323, MOR256-11, Olfr11

MMRRC Submission

045581-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.350) question?

Stock #

R7508 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21822750-21823691 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21822779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 305 (I305F)

Ref Sequence

ENSEMBL: ENSMUSP00000146091 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043081] [ENSMUST00000205631]

AlphaFold

Q60890

Predicted Effect

probably benign
Transcript: ENSMUST00000043081
AA Change: I305F

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000043099
Gene: ENSMUSG00000036658
AA Change: I305F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	311	4.9e-51	PFAM
Pfam:7tm_1	41	290	7.3e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205631
AA Change: I305F

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	C	T	5: 50,174,209 (GRCm39)	A110T	probably benign	Het
Adra1a	A	C	14: 66,875,384 (GRCm39)	I120L	probably damaging	Het
Ahnak2	C	T	12: 112,740,839 (GRCm39)	V1078I	possibly damaging	Het
Ccser1	A	G	6: 61,547,707 (GRCm39)	H590R	probably benign	Het
Cdh12	T	G	15: 21,583,851 (GRCm39)	L564V	probably benign	Het
Celsr3	T	A	9: 108,713,821 (GRCm39)	H1900Q	probably benign	Het
Clasp1	T	A	1: 118,473,164 (GRCm39)	M918K	probably benign	Het
Cmtm6	A	G	9: 114,560,308 (GRCm39)	E2G	probably damaging	Het
Ctsg	A	G	14: 56,337,998 (GRCm39)		probably null	Het
Cylc2	T	A	4: 51,229,256 (GRCm39)		probably null	Het
Dna2	A	G	10: 62,807,772 (GRCm39)		probably null	Het
Dnai1	G	A	4: 41,614,323 (GRCm39)	R333H	probably benign	Het
Egln3	T	C	12: 54,227,414 (GRCm39)	D239G	probably benign	Het
Eif1ad12	T	C	12: 87,541,612 (GRCm39)	M41T	possibly damaging	Het
Fam13a	A	T	6: 58,964,269 (GRCm39)	D54E	probably damaging	Het
Fn1	A	G	1: 71,636,675 (GRCm39)	V2159A	probably benign	Het
Gcnt2	T	A	13: 41,041,157 (GRCm39)	F105L	probably benign	Het
Gpd1	G	A	15: 99,619,967 (GRCm39)	S255N	probably damaging	Het
Hacd4	A	G	4: 88,355,715 (GRCm39)	F57L	probably benign	Het
Helb	T	C	10: 119,941,188 (GRCm39)	D500G	probably benign	Het
Ighv1-26	G	A	12: 114,752,062 (GRCm39)	S94F	probably damaging	Het
Kirrel1	T	C	3: 86,990,746 (GRCm39)	D692G	possibly damaging	Het
Klra7	A	T	6: 130,207,054 (GRCm39)		probably null	Het
Lyl1	T	C	8: 85,430,929 (GRCm39)	V277A	probably benign	Het
Mon2	A	C	10: 122,859,844 (GRCm39)	W811G	probably damaging	Het
Myo9b	T	C	8: 71,807,445 (GRCm39)	L1627P	probably benign	Het
Neurl1b	C	G	17: 26,657,720 (GRCm39)	H219Q	probably benign	Het
Odf4	A	T	11: 68,813,249 (GRCm39)	C218S	possibly damaging	Het
Or8u3-ps	A	G	2: 85,952,282 (GRCm39)	N5S	possibly damaging	Het
Pde5a	A	G	3: 122,611,679 (GRCm39)	D571G	probably damaging	Het
Pgc	A	G	17: 48,045,111 (GRCm39)	E343G	probably benign	Het
Pik3cd	A	G	4: 149,739,040 (GRCm39)	F667L	possibly damaging	Het
Prf1	G	A	10: 61,135,934 (GRCm39)	R70H	possibly damaging	Het
Ptprb	C	T	10: 116,189,896 (GRCm39)	Q1565*	probably null	Het
Rapgef4	T	A	2: 72,036,077 (GRCm39)	N523K	probably benign	Het
Rbm25	T	C	12: 83,719,651 (GRCm39)	L557P	probably damaging	Het
Rhobtb3	C	T	13: 76,026,976 (GRCm39)	V466I	probably benign	Het
Rnpep	A	G	1: 135,206,596 (GRCm39)	V166A	probably benign	Het
Sgo2a	A	G	1: 58,056,954 (GRCm39)	K1046R	probably benign	Het
Slc12a2	T	C	18: 58,037,465 (GRCm39)	V525A	probably benign	Het
Slc1a4	A	T	11: 20,256,487 (GRCm39)	I448N	probably damaging	Het
Slc29a4	C	T	5: 142,704,261 (GRCm39)	P305L	probably benign	Het
Slc9a5	T	A	8: 106,089,885 (GRCm39)		probably null	Het
Spag16	A	T	1: 69,926,679 (GRCm39)	N258I	possibly damaging	Het
Sspo	T	A	6: 48,443,633 (GRCm39)	L2076Q	probably damaging	Het
Taok1	T	A	11: 77,436,152 (GRCm39)	H704L	probably damaging	Het
Tbc1d9b	T	C	11: 50,035,947 (GRCm39)	F148L	probably damaging	Het
Tm4sf1	A	G	3: 57,202,176 (GRCm39)	Y12H	probably benign	Het
Traj6	C	T	14: 54,450,171 (GRCm39)	T9M		Het
Ttll4	A	G	1: 74,726,418 (GRCm39)	N672S	possibly damaging	Het
Ube3a	T	A	7: 58,953,437 (GRCm39)	H790Q	possibly damaging	Het
Usp49	G	A	17: 47,983,205 (GRCm39)	R70Q	probably benign	Het
Vmn2r32	C	T	7: 7,470,373 (GRCm39)	V515M	possibly damaging	Het
Wars1	A	G	12: 108,848,801 (GRCm39)	S49P	probably benign	Het
Zbp1	T	A	2: 173,049,604 (GRCm39)	Q386L	possibly damaging	Het
Zfp369	T	C	13: 65,427,087 (GRCm39)	F10S	unknown	Het
Zfp512	C	G	5: 31,630,883 (GRCm39)	I408M	possibly damaging	Het
Zfp952	A	G	17: 33,222,756 (GRCm39)	I412V	probably benign	Het

Other mutations in Or2b6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02513:Or2b6	APN	13	21,823,510 (GRCm39)	missense	probably damaging	1.00
R0513:Or2b6	UTSW	13	21,823,119 (GRCm39)	missense	probably benign	0.26
R0928:Or2b6	UTSW	13	21,823,126 (GRCm39)	missense	probably damaging	1.00
R1440:Or2b6	UTSW	13	21,823,560 (GRCm39)	missense	probably benign	0.11
R1673:Or2b6	UTSW	13	21,823,214 (GRCm39)	missense	probably damaging	1.00
R1705:Or2b6	UTSW	13	21,823,331 (GRCm39)	missense	probably damaging	1.00
R2080:Or2b6	UTSW	13	21,823,606 (GRCm39)	missense	probably damaging	0.99
R2187:Or2b6	UTSW	13	21,823,555 (GRCm39)	missense	probably damaging	0.99
R2283:Or2b6	UTSW	13	21,823,190 (GRCm39)	missense	probably damaging	1.00
R2340:Or2b6	UTSW	13	21,822,757 (GRCm39)	missense	probably benign	0.03
R3690:Or2b6	UTSW	13	21,823,508 (GRCm39)	missense	probably damaging	1.00
R4108:Or2b6	UTSW	13	21,822,952 (GRCm39)	missense	probably damaging	1.00
R4739:Or2b6	UTSW	13	21,823,340 (GRCm39)	missense	possibly damaging	0.90
R4740:Or2b6	UTSW	13	21,823,340 (GRCm39)	missense	possibly damaging	0.90
R5335:Or2b6	UTSW	13	21,822,949 (GRCm39)	missense	probably damaging	1.00
R5790:Or2b6	UTSW	13	21,823,046 (GRCm39)	missense	probably benign
R6320:Or2b6	UTSW	13	21,823,418 (GRCm39)	missense	probably damaging	1.00
R7406:Or2b6	UTSW	13	21,823,316 (GRCm39)	missense	probably benign	0.16
R8054:Or2b6	UTSW	13	21,823,119 (GRCm39)	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- AGGCTAGTTCAGTGTTTTCAACAAC -3'
(R):5'- CAAAAGGCGTTTGGGACCTG -3'

Sequencing Primer
(F):5'- TGTTTTCAACAACACTCTAAACTCC -3'
(R):5'- GGGACCTGTAGCTCTCATCTAATAG -3'

Posted On

2019-10-17