Mutagenetix > Incidental Mutation

Incidental Mutation 'R1433:Or2b28'

159332

Institutional Source

Beutler Lab

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

MMRRC Submission

039488-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R1433 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21531100-21532050 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21531194 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 32 (V32A)

Ref Sequence

ENSEMBL: ENSMUSP00000055870 (fasta)

Gene Model

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

AlphaFold

Q8VFG2

Predicted Effect

probably benign
Transcript: ENSMUST00000059216
AA Change: V32A

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

SMART Domains

Protein: ENSMUSP00000055870
Gene: ENSMUSG00000045508
AA Change: V32A

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

1x: 98.9%
3x: 97.9%
10x: 94.8%
20x: 87.9%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp1	C	T	12: 30,945,934 (GRCm39)	E140K	possibly damaging	Het
Acsm4	T	A	7: 119,293,042 (GRCm39)	D57E	probably damaging	Het
Adamts9	A	G	6: 92,826,271 (GRCm39)		probably null	Het
Aen	T	A	7: 78,557,060 (GRCm39)	Y303N	probably damaging	Het
Alcam	T	C	16: 52,116,115 (GRCm39)		probably null	Het
Apol7b	A	G	15: 77,309,746 (GRCm39)	L17P	probably damaging	Het
Cacna1c	A	T	6: 118,629,754 (GRCm39)	Y1058*	probably null	Het
Camk2d	T	C	3: 126,601,873 (GRCm39)	V354A	probably benign	Het
Carf	T	G	1: 60,164,017 (GRCm39)	M43R	probably damaging	Het
Casp8	T	A	1: 58,863,283 (GRCm39)	F81Y	probably damaging	Het
Cd74	G	A	18: 60,937,064 (GRCm39)	R20H	probably benign	Het
Cers5	A	T	15: 99,643,812 (GRCm39)	Y16*	probably null	Het
Chuk	A	T	19: 44,067,397 (GRCm39)	M586K	probably null	Het
D130043K22Rik	C	A	13: 25,055,324 (GRCm39)	P496Q	probably damaging	Het
Dab2	A	G	15: 6,459,419 (GRCm39)	R311G	probably damaging	Het
Depp1	A	T	6: 116,629,223 (GRCm39)	S189C	possibly damaging	Het
Diaph1	A	T	18: 38,038,187 (GRCm39)	I48N	unknown	Het
Dnajc13	T	C	9: 104,057,320 (GRCm39)	D1560G	probably damaging	Het
Dsg2	T	C	18: 20,715,780 (GRCm39)	S241P	probably damaging	Het
Efcab5	T	C	11: 76,996,204 (GRCm39)	D1119G	probably benign	Het
Efr3a	G	T	15: 65,740,906 (GRCm39)		probably benign	Het
Evc2	A	G	5: 37,550,427 (GRCm39)	K814E	probably damaging	Het
Hic2	A	G	16: 17,076,686 (GRCm39)	D505G	probably benign	Het
Ing1	T	A	8: 11,607,010 (GRCm39)	V34D	probably damaging	Het
Inpp5k	A	G	11: 75,528,317 (GRCm39)	M172V	probably benign	Het
Itgae	T	C	11: 73,006,418 (GRCm39)	V362A	probably damaging	Het
Lama2	T	A	10: 27,063,750 (GRCm39)	R1346S	probably damaging	Het
Lrrc7	T	C	3: 157,882,943 (GRCm39)	N450S	probably damaging	Het
Lrrn3	T	A	12: 41,502,583 (GRCm39)	Y578F	possibly damaging	Het
Maml2	A	T	9: 13,617,797 (GRCm39)	N381I	probably damaging	Het
Mettl15	T	G	2: 108,923,266 (GRCm39)	E385D	probably benign	Het
Mthfr	T	A	4: 148,139,900 (GRCm39)	I623N	possibly damaging	Het
Muc4	A	C	16: 32,574,448 (GRCm39)	N966T	probably benign	Het
Myoc	A	G	1: 162,476,565 (GRCm39)	Y423C	probably damaging	Het
Ncoa2	A	T	1: 13,218,602 (GRCm39)	M1409K	probably benign	Het
Ncor2	T	C	5: 125,187,039 (GRCm39)		probably benign	Het
Numb	T	C	12: 83,844,033 (GRCm39)	E395G	probably damaging	Het
Oas1g	A	G	5: 121,020,012 (GRCm39)	F198S	probably damaging	Het
Or5k17	A	G	16: 58,746,049 (GRCm39)	V295A	probably benign	Het
Prdm13	T	A	4: 21,678,909 (GRCm39)	Y527F	probably damaging	Het
Prr14l	A	G	5: 32,986,177 (GRCm39)	L1106P	probably damaging	Het
Ptbp1	T	A	10: 79,699,107 (GRCm39)	I555N	probably damaging	Het
Ptchd4	A	T	17: 42,814,606 (GRCm39)	T836S	possibly damaging	Het
Rlbp1	T	C	7: 79,033,686 (GRCm39)	D3G	probably benign	Het
Sdk2	T	C	11: 113,685,871 (GRCm39)	E1883G	probably damaging	Het
Serpinc1	A	T	1: 160,820,974 (GRCm39)	K140N	probably damaging	Het
Serpind1	A	T	16: 17,160,249 (GRCm39)	Y382F	probably damaging	Het
Slc28a3	T	C	13: 58,710,920 (GRCm39)	E534G	probably damaging	Het
Slco1a7	A	G	6: 141,711,429 (GRCm39)	M94T	probably benign	Het
Ttyh2	T	A	11: 114,601,005 (GRCm39)	I418N	probably benign	Het
Tubgcp4	C	T	2: 121,005,905 (GRCm39)	Q98*	probably null	Het
Ugt2a2	A	G	5: 87,611,965 (GRCm39)	L315P	probably damaging	Het
Vwa1	A	T	4: 155,857,358 (GRCm39)	S147T	probably damaging	Het
Xylt1	T	C	7: 117,191,179 (GRCm39)	V325A	possibly damaging	Het
Zfp335	T	C	2: 164,741,376 (GRCm39)	H685R	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGATGGCATATACCAGCTCTTTCCC -3'
(R):5'- AGAGTACCTCAGAGGCTTGCACAC -3'

Sequencing Primer
(F):5'- GGCCCCTTTCCTTTGAAATG -3'
(R):5'- CCATGCAGCCTATGTAAGTGATG -3'

Posted On

2014-03-14