Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01081:Or2b28'

52540

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or2b28

Ensembl Gene

ENSMUSG00000045508

Gene Name

olfactory receptor family 2 subfamily B member 28

Synonyms

MOR256-16, GA_x6K02T2QHY8-11899770-11898820, Olfr1367, MOR256-65

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

IGL01081

Quality Score

Status

Chromosome

Chromosomal Location

21531100-21532050 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 21531185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 29 (L29R)

Ref Sequence

ENSEMBL: ENSMUSP00000055870 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059216]

AlphaFold

Q8VFG2

Predicted Effect

probably damaging
Transcript: ENSMUST00000059216
AA Change: L29R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055870
Gene: ENSMUSG00000045508
AA Change: L29R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	310	2.6e-54	PFAM
Pfam:7TM_GPCR_Srsx	37	153	9.3e-7	PFAM
Pfam:7tm_1	43	292	4.5e-25	PFAM

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad8	A	G	9: 26,901,890 (GRCm39)	L158P	probably damaging	Het
Aco1	A	G	4: 40,197,576 (GRCm39)	Q860R	probably benign	Het
Actl11	A	T	9: 107,806,181 (GRCm39)	Q168L	possibly damaging	Het
Adam26b	T	C	8: 43,972,975 (GRCm39)	I676V	probably benign	Het
Aldoart2	A	C	12: 55,612,920 (GRCm39)	I282L	probably benign	Het
Capns1	G	T	7: 29,889,565 (GRCm39)	S211R	probably benign	Het
Cps1	T	C	1: 67,245,983 (GRCm39)	V1158A	probably damaging	Het
Cryl1	C	T	14: 57,523,821 (GRCm39)		probably null	Het
Cxcr5	A	G	9: 44,425,607 (GRCm39)		probably benign	Het
Dcaf13	A	G	15: 38,982,201 (GRCm39)	K56E	probably damaging	Het
Dlx6	T	G	6: 6,867,068 (GRCm39)	S85A	probably damaging	Het
Dsg2	C	T	18: 20,722,999 (GRCm39)		probably benign	Het
Dync1li1	T	A	9: 114,549,665 (GRCm39)	S412T	possibly damaging	Het
Ebf3	C	A	7: 136,827,625 (GRCm39)		probably benign	Het
Fads3	T	C	19: 10,030,366 (GRCm39)	I168T	probably benign	Het
Gm10295	G	A	7: 71,000,296 (GRCm39)	P95S	unknown	Het
Gm43638	T	C	5: 87,634,455 (GRCm39)	T51A	probably damaging	Het
Gm5114	G	A	7: 39,060,071 (GRCm39)		probably benign	Het
Gucy2c	G	A	6: 136,679,737 (GRCm39)	T974M	probably damaging	Het
Ighv1-19-1	T	C	12: 114,672,258 (GRCm39)		probably benign	Het
Kri1	A	T	9: 21,191,723 (GRCm39)	L173Q	probably damaging	Het
Lztfl1	T	C	9: 123,531,338 (GRCm39)	D210G	probably benign	Het
Morc2a	T	A	11: 3,638,149 (GRCm39)	N958K	probably damaging	Het
Msl3l2	G	A	10: 55,992,021 (GRCm39)	A249T	probably benign	Het
Nlrp4a	A	G	7: 26,149,254 (GRCm39)	E287G	probably benign	Het
Nlrp9a	A	T	7: 26,257,519 (GRCm39)	N290I	possibly damaging	Het
Or4e2	A	G	14: 52,688,484 (GRCm39)	T205A	probably benign	Het
Or5al6	C	T	2: 85,976,955 (GRCm39)	G41D	probably benign	Het
Pcsk7	A	G	9: 45,840,005 (GRCm39)	D731G	probably benign	Het
Plppr5	T	A	3: 117,480,298 (GRCm39)		probably benign	Het
Podxl	T	C	6: 31,505,639 (GRCm39)	T135A	possibly damaging	Het
Pole	T	G	5: 110,485,106 (GRCm39)	C407G	possibly damaging	Het
Prl	C	A	13: 27,249,024 (GRCm39)	N224K	possibly damaging	Het
Prnp	A	T	2: 131,778,340 (GRCm39)		probably benign	Het
Proser2	A	G	2: 6,105,149 (GRCm39)	*472R	probably null	Het
Rhag	T	C	17: 41,122,178 (GRCm39)	S38P	possibly damaging	Het
Rnf146	T	C	10: 29,223,856 (GRCm39)	D10G	probably damaging	Het
Rps3a1	T	C	3: 86,049,085 (GRCm39)	D29G	probably benign	Het
Sv2a	A	T	3: 96,097,012 (GRCm39)	I446F	probably benign	Het
Tbc1d30	C	A	10: 121,103,319 (GRCm39)	R571L	probably damaging	Het
Tfrc	T	A	16: 32,443,646 (GRCm39)		probably null	Het
Tnfaip1	G	A	11: 78,419,129 (GRCm39)	P156S	probably damaging	Het
Vmn1r226	T	C	17: 20,908,166 (GRCm39)	S133P	probably damaging	Het
Wnt9b	C	T	11: 103,622,836 (GRCm39)	R189K	probably damaging	Het
Ythdc2	A	G	18: 44,983,726 (GRCm39)	H564R	probably benign	Het
Zfp442	C	A	2: 150,251,267 (GRCm39)	E211*	probably null	Het

Other mutations in Or2b28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Or2b28	APN	13	21,531,377 (GRCm39)	missense	probably benign	0.00
IGL02624:Or2b28	APN	13	21,531,682 (GRCm39)	missense	probably benign	0.11
IGL02718:Or2b28	APN	13	21,531,554 (GRCm39)	missense	probably damaging	1.00
IGL02744:Or2b28	APN	13	21,531,164 (GRCm39)	missense	probably damaging	0.99
IGL03354:Or2b28	APN	13	21,531,686 (GRCm39)	missense	possibly damaging	0.65
R1433:Or2b28	UTSW	13	21,531,194 (GRCm39)	missense	probably benign	0.00
R1567:Or2b28	UTSW	13	21,531,595 (GRCm39)	missense	probably benign	0.00
R1857:Or2b28	UTSW	13	21,531,346 (GRCm39)	missense	possibly damaging	0.63
R1858:Or2b28	UTSW	13	21,531,346 (GRCm39)	missense	possibly damaging	0.63
R1927:Or2b28	UTSW	13	21,531,116 (GRCm39)	missense	probably benign	0.04
R4627:Or2b28	UTSW	13	21,531,634 (GRCm39)	missense	probably damaging	1.00
R6146:Or2b28	UTSW	13	21,531,164 (GRCm39)	missense	possibly damaging	0.49
R7903:Or2b28	UTSW	13	21,532,046 (GRCm39)	missense	probably benign	0.09
R8401:Or2b28	UTSW	13	21,531,997 (GRCm39)	missense	probably benign	0.04
R8524:Or2b28	UTSW	13	21,531,248 (GRCm39)	missense	probably benign	0.01
R8998:Or2b28	UTSW	13	21,531,988 (GRCm39)	missense	probably damaging	0.97
R8999:Or2b28	UTSW	13	21,531,988 (GRCm39)	missense	probably damaging	0.97
R9215:Or2b28	UTSW	13	21,532,004 (GRCm39)	missense	probably damaging	1.00
R9425:Or2b28	UTSW	13	21,531,473 (GRCm39)	missense	probably damaging	1.00
R9484:Or2b28	UTSW	13	21,531,587 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-06-21