Mutagenetix > Incidental Mutation

Incidental Mutation 'R5853:Or6b2b'

454742

Institutional Source

Beutler Lab

Gene Symbol

Or6b2b

Ensembl Gene

ENSMUSG00000057464

Gene Name

olfactory receptor family 6 subfamily B member 2B

Synonyms

MOR103-12, GA_x6K02T2R7CC-81266841-81267776, Olfr1415

MMRRC Submission

044068-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R5853 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92418540-92419475 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92419439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 13 (I13V)

Ref Sequence

ENSEMBL: ENSMUSP00000145446 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071521] [ENSMUST00000204009] [ENSMUST00000204766]

AlphaFold

Q7TQS4

Predicted Effect

probably benign
Transcript: ENSMUST00000071521
AA Change: I13V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000084047
Gene: ENSMUSG00000057464
AA Change: I13V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.3e-53	PFAM
Pfam:7tm_1	41	290	1.2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204009
AA Change: I13V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000145446
Gene: ENSMUSG00000057464
AA Change: I13V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.3e-53	PFAM
Pfam:7tm_1	41	290	1.2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204766
AA Change: I13V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000144986
Gene: ENSMUSG00000057464
AA Change: I13V

Domain	Start	End	E-Value	Type
Blast:CLECT	1	65	1e-7	BLAST

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	G	A	7: 119,939,806 (GRCm39)	V303I	probably benign	Het
Abca4	G	T	3: 121,897,180 (GRCm39)	V620L	probably benign	Het
Ankk1	A	T	9: 49,329,995 (GRCm39)	V320E	possibly damaging	Het
Aoah	G	T	13: 21,184,072 (GRCm39)	A379S	probably benign	Het
Apol7e	A	G	15: 77,598,667 (GRCm39)	D44G	probably benign	Het
Atf2	T	C	2: 73,658,813 (GRCm39)		probably null	Het
Cd209b	T	C	8: 3,976,549 (GRCm39)		probably null	Het
Chek1	G	A	9: 36,624,983 (GRCm39)	S366L	probably damaging	Het
Chpf2	T	C	5: 24,797,190 (GRCm39)	L712P	probably damaging	Het
Clmn	C	A	12: 104,750,161 (GRCm39)		probably null	Het
Cnksr3	T	C	10: 7,092,977 (GRCm39)	D178G	probably benign	Het
Cpox	T	C	16: 58,495,780 (GRCm39)	Y366H	probably damaging	Het
Dnah3	A	G	7: 119,538,056 (GRCm39)	F3632S	probably damaging	Het
Eif5b	T	A	1: 38,076,388 (GRCm39)	D645E	probably damaging	Het
Emilin1	G	A	5: 31,075,966 (GRCm39)	E736K	probably damaging	Het
Gcnt4	G	A	13: 97,083,160 (GRCm39)	R152Q	probably benign	Het
Il6st	T	C	13: 112,618,071 (GRCm39)	S162P	probably damaging	Het
Iqub	T	C	6: 24,491,601 (GRCm39)	K362E	probably benign	Het
Kif22	G	T	7: 126,632,539 (GRCm39)	P257Q	possibly damaging	Het
Lhx2	T	C	2: 38,259,053 (GRCm39)	V378A	probably damaging	Het
Lipo3	A	G	19: 33,759,630 (GRCm39)	V202A	probably benign	Het
Lrp1b	T	A	2: 40,553,738 (GRCm39)	N366I	unknown	Het
Mbip	T	C	12: 56,382,662 (GRCm39)	D268G	probably damaging	Het
Mc5r	A	G	18: 68,472,564 (GRCm39)	M308V	probably benign	Het
Mndal	C	A	1: 173,690,070 (GRCm39)	G420V	probably damaging	Het
Nbea	A	T	3: 55,899,822 (GRCm39)	N1442K	probably damaging	Het
Ndufv1	A	T	19: 4,058,811 (GRCm39)		probably null	Het
Ofcc1	A	G	13: 40,360,193 (GRCm39)	S279P	probably benign	Het
Or4k2	A	T	14: 50,424,326 (GRCm39)	M116K	possibly damaging	Het
Pabpc1l	A	T	2: 163,891,438 (GRCm39)	H552L	probably benign	Het
Pigr	T	A	1: 130,774,341 (GRCm39)	C440*	probably null	Het
Pramel11	A	G	4: 143,623,490 (GRCm39)	V228A	probably benign	Het
Prss30	C	T	17: 24,191,820 (GRCm39)	V271I	probably damaging	Het
Psme4	T	A	11: 30,741,234 (GRCm39)		probably null	Het
Qrich1	T	A	9: 108,410,807 (GRCm39)		probably benign	Het
Rem1	C	G	2: 152,470,200 (GRCm39)	A62G	possibly damaging	Het
Rftn1	T	C	17: 50,354,354 (GRCm39)	N58S	probably damaging	Het
Rp9	G	A	9: 22,360,065 (GRCm39)		probably benign	Het
Rrp1b	G	A	17: 32,275,658 (GRCm39)	V402I	possibly damaging	Het
Slc25a33	A	T	4: 149,838,349 (GRCm39)	Y108N	probably benign	Het
Slc3a1	A	G	17: 85,340,008 (GRCm39)	M189V	probably damaging	Het
Slc44a1	A	C	4: 53,528,682 (GRCm39)	K144T	probably benign	Het
Tbc1d13	T	A	2: 30,027,393 (GRCm39)	H100Q	probably damaging	Het
Timm29	T	C	9: 21,504,749 (GRCm39)	V139A	probably damaging	Het
Tmem70	T	C	1: 16,735,556 (GRCm39)	W9R	possibly damaging	Het
Tspan1	A	G	4: 116,020,502 (GRCm39)		probably null	Het
Unc13a	T	C	8: 72,107,773 (GRCm39)		probably null	Het
Uroc1	T	C	6: 90,323,738 (GRCm39)	F395S	probably damaging	Het
Uvrag	A	C	7: 98,537,284 (GRCm39)	L637R	possibly damaging	Het
Vmn1r213	T	G	13: 23,195,684 (GRCm39)	L3W	probably benign	Het
Zfp280d	C	T	9: 72,238,224 (GRCm39)	T528I	probably benign	Het
Zfp526	C	T	7: 24,924,601 (GRCm39)	Q287*	probably null	Het

Other mutations in Or6b2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03066:Or6b2b	APN	1	92,419,305 (GRCm39)	missense	probably damaging	1.00
R0538:Or6b2b	UTSW	1	92,419,055 (GRCm39)	missense	possibly damaging	0.77
R0924:Or6b2b	UTSW	1	92,419,127 (GRCm39)	missense	possibly damaging	0.95
R0930:Or6b2b	UTSW	1	92,419,127 (GRCm39)	missense	possibly damaging	0.95
R1025:Or6b2b	UTSW	1	92,419,445 (GRCm39)	missense	probably benign	0.19
R1201:Or6b2b	UTSW	1	92,418,875 (GRCm39)	missense	probably benign	0.04
R1413:Or6b2b	UTSW	1	92,418,610 (GRCm39)	missense	probably damaging	1.00
R1510:Or6b2b	UTSW	1	92,419,339 (GRCm39)	missense	probably damaging	1.00
R1846:Or6b2b	UTSW	1	92,418,822 (GRCm39)	nonsense	probably null
R1850:Or6b2b	UTSW	1	92,419,124 (GRCm39)	missense	possibly damaging	0.89
R1940:Or6b2b	UTSW	1	92,419,457 (GRCm39)	missense	probably benign	0.14
R2760:Or6b2b	UTSW	1	92,418,802 (GRCm39)	missense	probably damaging	0.99
R4066:Or6b2b	UTSW	1	92,418,911 (GRCm39)	missense	probably damaging	1.00
R4837:Or6b2b	UTSW	1	92,418,697 (GRCm39)	missense	probably benign	0.39
R5310:Or6b2b	UTSW	1	92,418,758 (GRCm39)	missense	probably damaging	1.00
R5503:Or6b2b	UTSW	1	92,418,918 (GRCm39)	missense	probably benign	0.07
R5748:Or6b2b	UTSW	1	92,418,815 (GRCm39)	missense	probably damaging	0.99
R5760:Or6b2b	UTSW	1	92,418,922 (GRCm39)	missense	possibly damaging	0.95
R5926:Or6b2b	UTSW	1	92,419,288 (GRCm39)	missense	probably damaging	1.00
R6199:Or6b2b	UTSW	1	92,419,264 (GRCm39)	missense	possibly damaging	0.89
R7585:Or6b2b	UTSW	1	92,419,042 (GRCm39)	missense	probably benign	0.10
R7627:Or6b2b	UTSW	1	92,419,107 (GRCm39)	nonsense	probably null
R7726:Or6b2b	UTSW	1	92,419,029 (GRCm39)	missense	probably benign	0.30
R8011:Or6b2b	UTSW	1	92,418,997 (GRCm39)	missense	possibly damaging	0.60
R8306:Or6b2b	UTSW	1	92,419,247 (GRCm39)	missense	possibly damaging	0.64
R9142:Or6b2b	UTSW	1	92,419,411 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGCCATCCAGCATTTTGGG -3'
(R):5'- ACTTGGCAGAAGAAAGAGTTCC -3'

Sequencing Primer
(F):5'- TGTCTGACACATACCAGATCTCTAGG -3'
(R):5'- CTTGGCAGAAGAAAGAGTTCCATTCC -3'

Posted On

2017-02-10