Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02718:Or2b28'

304844

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: 0.058) question?

Stock #

IGL02718

Quality Score

Status

Chromosome

Chromosomal Location

21531100-21532050 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21531554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 152 (L152P)

Ref Sequence

ENSEMBL: ENSMUSP00000055870 (fasta)

Gene Model

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

AlphaFold

Q8VFG2

Predicted Effect

probably damaging
Transcript: ENSMUST00000059216
AA Change: L152P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000055870
Gene: ENSMUSG00000045508
AA Change: L152P

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002J24Rik	A	G	7: 30,399,329 (GRCm39)	D41G	probably damaging	Het
2210408I21Rik	T	A	13: 77,322,991 (GRCm39)	Y7N	probably damaging	Het
Atf1	C	A	15: 100,152,100 (GRCm39)	Q151K	probably damaging	Het
Brdt	T	C	5: 107,497,934 (GRCm39)		probably benign	Het
Cep295	T	C	9: 15,237,049 (GRCm39)		probably null	Het
Ctnnd2	A	G	15: 31,027,762 (GRCm39)	S1229G	probably damaging	Het
Dcaf15	T	A	8: 84,825,005 (GRCm39)	I476L	possibly damaging	Het
Dlec1	A	G	9: 118,966,354 (GRCm39)	I1108V	probably benign	Het
Dnah9	T	A	11: 65,777,466 (GRCm39)	H3694L	probably damaging	Het
Dock10	A	T	1: 80,501,535 (GRCm39)	D1838E	probably benign	Het
Dusp12	A	T	1: 170,708,226 (GRCm39)	Y164N	probably damaging	Het
Ephx1	A	G	1: 180,827,351 (GRCm39)	F101L	probably damaging	Het
Fbn1	C	A	2: 125,211,806 (GRCm39)	C864F	probably damaging	Het
Fbxw24	T	C	9: 109,453,858 (GRCm39)	E96G	possibly damaging	Het
Glt1d1	C	A	5: 127,727,763 (GRCm39)	F78L	probably damaging	Het
Gm9602	A	T	14: 15,932,620 (GRCm39)	R21*	probably null	Het
Grip1	T	A	10: 119,911,420 (GRCm39)	*713K	probably null	Het
Hecw1	T	C	13: 14,481,520 (GRCm39)		probably null	Het
Il31ra	G	A	13: 112,666,903 (GRCm39)	R392*	probably null	Het
L3hypdh	T	G	12: 72,131,630 (GRCm39)	S101R	probably damaging	Het
Lpar5	T	A	6: 125,059,207 (GRCm39)	D309E	probably damaging	Het
Masp1	T	C	16: 23,295,043 (GRCm39)	Y406C	probably damaging	Het
Mpdz	T	C	4: 81,303,439 (GRCm39)	I166M	probably damaging	Het
Nbea	A	T	3: 55,539,483 (GRCm39)	Y2759*	probably null	Het
Ncf1	A	T	5: 134,256,302 (GRCm39)		probably null	Het
Nek5	T	G	8: 22,587,479 (GRCm39)	R314S	probably benign	Het
Nifk	A	C	1: 118,255,362 (GRCm39)	N38T	probably damaging	Het
Obscn	C	T	11: 58,968,684 (GRCm39)	V2772M	probably damaging	Het
Or10g9	A	T	9: 39,912,182 (GRCm39)	Y114N	probably damaging	Het
Or10z1	G	T	1: 174,078,273 (GRCm39)	Y73*	probably null	Het
Or2d3	A	T	7: 106,490,536 (GRCm39)	M260K	probably damaging	Het
Or52r1c	C	A	7: 102,734,790 (GRCm39)	L22I	probably benign	Het
Or5k17	T	C	16: 58,746,459 (GRCm39)	I158M	possibly damaging	Het
Pbxip1	A	G	3: 89,355,311 (GRCm39)	E610G	probably damaging	Het
Pfas	G	T	11: 68,890,971 (GRCm39)		probably benign	Het
Plk4	T	C	3: 40,769,456 (GRCm39)	S102P	probably damaging	Het
Ptprz1	C	T	6: 23,001,348 (GRCm39)	T1146I	possibly damaging	Het
Pum2	T	A	12: 8,783,344 (GRCm39)	S598T	probably benign	Het
Ric1	T	A	19: 29,510,640 (GRCm39)	W74R	probably damaging	Het
Riok3	C	A	18: 12,286,053 (GRCm39)	S427*	probably null	Het
Ros1	A	T	10: 51,994,328 (GRCm39)	D1317E	probably damaging	Het
Sfmbt2	A	G	2: 10,406,842 (GRCm39)	D47G	possibly damaging	Het
Slc12a1	C	T	2: 125,002,999 (GRCm39)	R177*	probably null	Het
Snai3	C	A	8: 123,182,861 (GRCm39)		probably null	Het
Snx19	A	G	9: 30,343,556 (GRCm39)	N572S	possibly damaging	Het
Soat1	A	T	1: 156,268,999 (GRCm39)	S151T	probably benign	Het
Spmip4	G	T	6: 50,561,367 (GRCm39)	T184K	probably damaging	Het
Stbd1	A	G	5: 92,751,077 (GRCm39)	E37G	possibly damaging	Het
Syt10	A	G	15: 89,698,282 (GRCm39)	I354T	probably damaging	Het
Trip11	A	C	12: 101,852,284 (GRCm39)	S593R	probably benign	Het
Ubr1	T	C	2: 120,745,364 (GRCm39)	E908G	probably damaging	Het
Yy1	T	C	12: 108,781,405 (GRCm39)	F357L	probably damaging	Het

Other mutations in Or2b28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Or2b28	APN	13	21,531,185 (GRCm39)	missense	probably damaging	0.99
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
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

2015-04-16