Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01866:Or2b7'

178529

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or2b7

Ensembl Gene

ENSMUSG00000054890

Gene Name

olfactory receptor family 2 subfamily B member 7

Synonyms

MOR256-63, Olfr1535, Olfr1365, MOR256-36, MOR256-36, GA_x6K02T2QHY8-11688984-11689964

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL01866

Quality Score

Status

Chromosome

Chromosomal Location

21739210-21740190 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21739343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 283 (N283S)

Ref Sequence

ENSEMBL: ENSMUSP00000149589 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068163] [ENSMUST00000217519]

AlphaFold

Q7TQU0

Predicted Effect

probably benign
Transcript: ENSMUST00000068163
AA Change: N283S

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000064142
Gene: ENSMUSG00000054890
AA Change: N283S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	320	5.4e-46	PFAM
Pfam:7tm_1	41	302	1.3e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217519
AA Change: N283S

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	T	C	4: 144,255,119 (GRCm39)	Y180H	possibly damaging	Het
Abi3bp	A	T	16: 56,492,336 (GRCm39)	I1361L	probably benign	Het
Amph	A	T	13: 19,326,172 (GRCm39)	D634V	probably damaging	Het
Ank1	G	A	8: 23,583,871 (GRCm39)	V317I	possibly damaging	Het
Ap4e1	G	A	2: 126,888,830 (GRCm39)	V460I	possibly damaging	Het
Arhgap19	A	T	19: 41,775,016 (GRCm39)	H198Q	probably benign	Het
Cacna1g	C	T	11: 94,347,937 (GRCm39)	G717D	probably damaging	Het
Camkk2	A	G	5: 122,902,013 (GRCm39)	S99P	probably damaging	Het
Catsperb	T	A	12: 101,475,570 (GRCm39)	Y371*	probably null	Het
Cbl	A	T	9: 44,065,122 (GRCm39)	C735*	probably null	Het
Ccdc146	C	A	5: 21,538,052 (GRCm39)	A91S	probably damaging	Het
Col1a2	G	T	6: 4,524,132 (GRCm39)	D531Y	probably damaging	Het
Dscam	T	A	16: 96,486,550 (GRCm39)	T1042S	probably benign	Het
Dtnb	A	G	12: 3,782,626 (GRCm39)	Y363C	probably benign	Het
Ear10	A	G	14: 44,160,785 (GRCm39)	L14P	probably damaging	Het
Egf	A	G	3: 129,529,529 (GRCm39)	S294P	probably benign	Het
Erbb3	T	C	10: 128,405,237 (GRCm39)	*1340W	probably null	Het
Fam217b	A	G	2: 178,062,224 (GRCm39)	T63A	probably benign	Het
Fig4	G	A	10: 41,108,160 (GRCm39)	P680L	possibly damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm6882	T	A	7: 21,161,512 (GRCm39)	I119F	probably damaging	Het
Hdac10	C	A	15: 89,008,736 (GRCm39)	G442W	probably damaging	Het
Mc2r	C	T	18: 68,540,494 (GRCm39)	M266I	possibly damaging	Het
Mep1b	A	G	18: 21,228,050 (GRCm39)	Q551R	probably benign	Het
Mtrf1	T	A	14: 79,638,948 (GRCm39)	C27S	probably benign	Het
Myo5c	T	A	9: 75,176,864 (GRCm39)	M603K	probably benign	Het
Nuf2	A	G	1: 169,326,407 (GRCm39)	L448P	possibly damaging	Het
Or10a49	C	T	7: 108,468,006 (GRCm39)	M118I	possibly damaging	Het
Or1e30	A	T	11: 73,678,654 (GRCm39)	I297L	probably benign	Het
Or8g33	A	T	9: 39,338,025 (GRCm39)	M114K	probably damaging	Het
Ppp2r5c	T	C	12: 110,534,261 (GRCm39)	Y375H	probably benign	Het
Pstpip2	A	G	18: 77,965,325 (GRCm39)	I317M	probably benign	Het
Pxdn	A	G	12: 30,034,570 (GRCm39)	T208A	probably benign	Het
Rab3gap1	C	T	1: 127,818,817 (GRCm39)	H116Y	probably damaging	Het
Rarb	T	A	14: 16,443,751 (GRCm38)	D179V	probably benign	Het
Rasal1	G	A	5: 120,813,488 (GRCm39)	A621T	probably damaging	Het
Rnf6	G	A	5: 146,147,717 (GRCm39)	R434C	probably damaging	Het
Scn10a	C	A	9: 119,464,568 (GRCm39)	E1011*	probably null	Het
Sec24d	C	T	3: 123,087,244 (GRCm39)	Q137*	probably null	Het
Slc35g1	C	A	19: 38,391,642 (GRCm39)	A308E	probably damaging	Het
Smtnl1	C	A	2: 84,649,089 (GRCm39)	C55F	possibly damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Stt3a	A	T	9: 36,645,662 (GRCm39)	D676E	probably benign	Het
Sytl2	T	C	7: 90,031,047 (GRCm39)		probably benign	Het
Trabd2b	A	G	4: 114,266,117 (GRCm39)	T44A	probably damaging	Het
Trim12a	T	C	7: 103,953,360 (GRCm39)		probably benign	Het
Tti1	A	T	2: 157,849,618 (GRCm39)	D540E	probably benign	Het
Tubgcp6	A	G	15: 88,987,691 (GRCm39)	V1094A	probably benign	Het
Vmn1r34	A	G	6: 66,614,373 (GRCm39)	Y122H	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zfp579	T	A	7: 4,997,257 (GRCm39)	Q218L	possibly damaging	Het

Other mutations in Or2b7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01593:Or2b7	APN	13	21,739,389 (GRCm39)	missense	probably damaging	0.98
IGL02289:Or2b7	APN	13	21,739,758 (GRCm39)	missense	probably benign	0.02
IGL02350:Or2b7	APN	13	21,739,772 (GRCm39)	missense	probably damaging	1.00
IGL02357:Or2b7	APN	13	21,739,772 (GRCm39)	missense	probably damaging	1.00
IGL02793:Or2b7	APN	13	21,740,172 (GRCm39)	missense	probably damaging	1.00
IGL02875:Or2b7	APN	13	21,740,172 (GRCm39)	missense	probably damaging	1.00
R0785:Or2b7	UTSW	13	21,739,958 (GRCm39)	missense	probably benign	0.02
R1773:Or2b7	UTSW	13	21,739,982 (GRCm39)	missense	probably damaging	1.00
R3429:Or2b7	UTSW	13	21,739,975 (GRCm39)	nonsense	probably null
R3430:Or2b7	UTSW	13	21,739,975 (GRCm39)	nonsense	probably null
R4232:Or2b7	UTSW	13	21,739,631 (GRCm39)	missense	probably damaging	0.98
R4883:Or2b7	UTSW	13	21,739,658 (GRCm39)	missense	probably benign	0.22
R5586:Or2b7	UTSW	13	21,739,266 (GRCm39)	missense	probably damaging	1.00
R6032:Or2b7	UTSW	13	21,740,077 (GRCm39)	missense	probably benign	0.01
R6032:Or2b7	UTSW	13	21,740,077 (GRCm39)	missense	probably benign	0.01
R6542:Or2b7	UTSW	13	21,739,677 (GRCm39)	missense	probably damaging	0.99
R7014:Or2b7	UTSW	13	21,740,108 (GRCm39)	missense	probably benign	0.02
R7579:Or2b7	UTSW	13	21,740,176 (GRCm39)	missense	probably benign	0.08
R7598:Or2b7	UTSW	13	21,739,358 (GRCm39)	missense	probably damaging	1.00
R7982:Or2b7	UTSW	13	21,740,136 (GRCm39)	missense	probably benign
R8239:Or2b7	UTSW	13	21,739,788 (GRCm39)	missense	probably benign	0.01
R8339:Or2b7	UTSW	13	21,739,996 (GRCm39)	missense	probably damaging	0.99
R8698:Or2b7	UTSW	13	21,739,890 (GRCm39)	missense	probably damaging	1.00
R8956:Or2b7	UTSW	13	21,740,169 (GRCm39)	missense	probably benign	0.00
R8977:Or2b7	UTSW	13	21,740,016 (GRCm39)	missense	possibly damaging	0.57
RF051:Or2b7	UTSW	13	21,739,693 (GRCm39)	frame shift	probably null

Posted On

2014-05-07