Mutagenetix > Incidental Mutation

Incidental Mutation 'R8437:Or6b2'

654024

Institutional Source

Beutler Lab

Gene Symbol

Or6b2

Ensembl Gene

ENSMUSG00000067064

Gene Name

olfactory receptor family 6 subfamily B member 2

Synonyms

Olfr1416, GA_x6K02T2R7CC-81277975-81278913, MOR103-3

MMRRC Submission

067901-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R8437 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92407403-92408341 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 92408187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 52 (S52N)

Ref Sequence

ENSEMBL: ENSMUSP00000149576 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086837] [ENSMUST00000214928]

AlphaFold

Q8VGU4

Predicted Effect

probably benign
Transcript: ENSMUST00000086837
AA Change: S52N

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

SMART Domains

Protein: ENSMUSP00000084048
Gene: ENSMUSG00000067064
AA Change: S52N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	5.9e-53	PFAM
Pfam:7tm_1	41	290	6.7e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214928
AA Change: S52N

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	T	C	7: 78,998,178 (GRCm39)	Y237H	probably damaging	Het
Adprh	T	C	16: 38,266,449 (GRCm39)	E231G	probably benign	Het
Anks6	T	C	4: 47,030,705 (GRCm39)	S631G	probably benign	Het
Bpifa5	T	A	2: 154,007,526 (GRCm39)	L156H	probably damaging	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
C8b	T	C	4: 104,644,040 (GRCm39)	Y236H	probably damaging	Het
Celf2	C	T	2: 6,551,956 (GRCm39)	G508S	probably damaging	Het
Clca3a1	T	C	3: 144,710,822 (GRCm39)	T794A	probably benign	Het
Col27a1	T	A	4: 63,237,701 (GRCm39)		probably benign	Het
Cyp2j12	C	T	4: 95,987,899 (GRCm39)	C497Y	probably damaging	Het
Dnmt3l	T	C	10: 77,888,602 (GRCm39)	I168T	possibly damaging	Het
Dtna	C	T	18: 23,723,398 (GRCm39)	Q201*	probably null	Het
Fetub	T	C	16: 22,752,985 (GRCm39)	S146P	possibly damaging	Het
Gak	T	G	5: 108,757,272 (GRCm39)	E242D	probably benign	Het
Gfpt2	T	A	11: 49,695,694 (GRCm39)		probably benign	Het
Ginm1	C	T	10: 7,646,130 (GRCm39)	C290Y	probably benign	Het
Hepacam	T	C	9: 37,296,006 (GRCm39)	S386P	probably damaging	Het
Hmcn2	C	A	2: 31,281,088 (GRCm39)	L1867I	probably benign	Het
Hnrnpa3	T	G	2: 75,493,019 (GRCm39)	S220A	unknown	Het
Hydin	A	G	8: 111,189,367 (GRCm39)	E1257G	probably damaging	Het
Ier3ip1	C	T	18: 77,017,874 (GRCm39)	A18V	probably damaging	Het
Ift140	T	A	17: 25,313,651 (GRCm39)	C1361S	probably damaging	Het
Il16	T	C	7: 83,301,351 (GRCm39)	Q955R	probably damaging	Het
Itpr3	T	G	17: 27,326,277 (GRCm39)	M1349R	probably damaging	Het
Kcnk4	C	T	19: 6,903,602 (GRCm39)	V316I	probably benign	Het
Marchf6	A	G	15: 31,482,695 (GRCm39)	I501T	possibly damaging	Het
Msl2	T	A	9: 100,978,167 (GRCm39)	S180R	probably benign	Het
Muc16	C	T	9: 18,569,220 (GRCm39)	V1100I	unknown	Het
Nbas	T	C	12: 13,616,251 (GRCm39)	V2263A	possibly damaging	Het
Or7g33	C	T	9: 19,448,833 (GRCm39)	R131H	probably benign	Het
Pdilt	T	G	7: 119,114,109 (GRCm39)	I130L	possibly damaging	Het
Phldb3	A	G	7: 24,328,375 (GRCm39)	T640A	probably damaging	Het
Pole2	G	C	12: 69,250,961 (GRCm39)	Y467*	probably null	Het
Pxdn	C	T	12: 30,052,043 (GRCm39)	T740M	probably damaging	Het
Rabac1	T	C	7: 24,671,672 (GRCm39)	I83V	probably damaging	Het
Rrp7a	T	C	15: 83,001,773 (GRCm39)	Q245R	probably damaging	Het
Sae1	A	G	7: 16,104,279 (GRCm39)	V110A	probably damaging	Het
Sema3c	G	T	5: 17,867,936 (GRCm39)	V116F	probably damaging	Het
Serpina3i	A	G	12: 104,231,963 (GRCm39)	Y200C	probably damaging	Het
Slc25a45	C	T	19: 5,930,135 (GRCm39)	T35M	probably benign	Het
Speer4b	C	T	5: 27,703,818 (GRCm39)	R107Q	probably benign	Het
Sycp2	T	C	2: 178,006,651 (GRCm39)	T843A	probably damaging	Het
Tecta	T	A	9: 42,243,856 (GRCm39)	I2004F	probably damaging	Het
Tma16	T	C	8: 66,929,448 (GRCm39)	D182G	possibly damaging	Het
Topaz1	T	A	9: 122,610,427 (GRCm39)	Y1167*	probably null	Het
Uck1	C	A	2: 32,150,153 (GRCm39)		probably benign	Het
Usp25	A	G	16: 76,830,800 (GRCm39)	T19A	probably damaging	Het
Vpreb1b	G	A	16: 17,798,753 (GRCm39)	G80S	probably damaging	Het
Wdfy4	A	G	14: 32,798,332 (GRCm39)	C2025R		Het
Zyg11a	T	A	4: 108,075,103 (GRCm39)	H6L	probably damaging	Het

Other mutations in Or6b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00965:Or6b2	APN	1	92,407,746 (GRCm39)	missense	probably damaging	0.99
IGL00980:Or6b2	APN	1	92,407,402 (GRCm39)	splice site	probably null
IGL01540:Or6b2	APN	1	92,408,202 (GRCm39)	missense	probably damaging	0.96
BB007:Or6b2	UTSW	1	92,407,570 (GRCm39)	missense	probably benign	0.01
BB017:Or6b2	UTSW	1	92,407,570 (GRCm39)	missense	probably benign	0.01
R1146:Or6b2	UTSW	1	92,407,612 (GRCm39)	missense	probably damaging	1.00
R1146:Or6b2	UTSW	1	92,407,612 (GRCm39)	missense	probably damaging	1.00
R4751:Or6b2	UTSW	1	92,407,705 (GRCm39)	missense	probably benign	0.01
R5207:Or6b2	UTSW	1	92,407,594 (GRCm39)	missense	probably benign
R5287:Or6b2	UTSW	1	92,408,019 (GRCm39)	missense	possibly damaging	0.88
R5403:Or6b2	UTSW	1	92,408,019 (GRCm39)	missense	possibly damaging	0.88
R6074:Or6b2	UTSW	1	92,407,497 (GRCm39)	missense	probably benign	0.45
R6232:Or6b2	UTSW	1	92,408,305 (GRCm39)	missense	probably benign	0.00
R6355:Or6b2	UTSW	1	92,407,702 (GRCm39)	missense	probably benign	0.21
R6378:Or6b2	UTSW	1	92,408,178 (GRCm39)	missense	probably damaging	1.00
R6901:Or6b2	UTSW	1	92,408,327 (GRCm39)	missense	probably damaging	1.00
R7930:Or6b2	UTSW	1	92,407,570 (GRCm39)	missense	probably benign	0.01
R8280:Or6b2	UTSW	1	92,407,729 (GRCm39)	missense	noncoding transcript
R8351:Or6b2	UTSW	1	92,407,660 (GRCm39)	missense	probably benign	0.09
R8451:Or6b2	UTSW	1	92,407,660 (GRCm39)	missense	probably benign	0.09
X0065:Or6b2	UTSW	1	92,407,484 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAAGCCAGGAGTACACAC -3'
(R):5'- GATACTTGGCCCTTCCTATCGG -3'

Sequencing Primer
(F):5'- ACTCTGTACATACCAGGGAGCTG -3'
(R):5'- CGGCCTCTTGATCTTTTGCAGG -3'

Posted On

2020-10-20