Mutagenetix > Incidental Mutation

Incidental Mutation 'R0100:Or2bd2'

17043

Institutional Source

Beutler Lab

Gene Symbol

Or2bd2

Ensembl Gene

ENSMUSG00000090824

Gene Name

olfactory receptor family 2 subfamily BD member 2

Synonyms

GA_x6K02T2QGBW-3169916-3170881, MOR124-1, Olfr1344, 4930415J05Rik

MMRRC Submission

038386-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R0100 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

6442901-6443866 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 6443399 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 167 (R167C)

Ref Sequence

ENSEMBL: ENSMUSP00000151666 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054781] [ENSMUST00000168341] [ENSMUST00000218906]

AlphaFold

Q7TQV3

Predicted Effect

probably benign
Transcript: ENSMUST00000054781

SMART Domains

Protein: ENSMUSP00000050428
Gene: ENSMUSG00000045929

Domain	Start	End	E-Value	Type
low complexity region	57	74	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000168341
AA Change: R167C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000130328
Gene: ENSMUSG00000090824
AA Change: R167C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	3e-49	PFAM
Pfam:7TM_GPCR_Srsx	37	224	1.9e-7	PFAM
Pfam:7tm_1	43	295	1.5e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000218906
AA Change: R167C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 90.3%
3x: 88.1%
10x: 82.7%
20x: 75.2%

Validation Efficiency

89% (68/76)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	A	G	4: 156,259,415 (GRCm39)	C814R	probably damaging	Het
Aoc1	T	C	6: 48,885,538 (GRCm39)	I681T	possibly damaging	Het
Atp13a4	T	C	16: 29,240,542 (GRCm39)	H793R	probably damaging	Het
Atp6v0a4	T	C	6: 38,053,750 (GRCm39)	I351V	probably benign	Het
Bbof1	T	A	12: 84,457,829 (GRCm39)	D31E	probably benign	Het
Cpxm2	T	A	7: 131,656,600 (GRCm39)	H554L	possibly damaging	Het
Ddx55	C	T	5: 124,694,845 (GRCm39)	T91I	probably damaging	Het
Dhx57	T	C	17: 80,582,585 (GRCm39)	D340G	possibly damaging	Het
Dnah1	C	T	14: 30,984,109 (GRCm39)		probably null	Het
Dpp9	C	T	17: 56,512,854 (GRCm39)	G118D	possibly damaging	Het
Etl4	T	C	2: 20,344,716 (GRCm39)	S4P	probably benign	Het
Fat4	A	C	3: 39,034,397 (GRCm39)	N2683T	probably damaging	Het
Gabrb2	A	G	11: 42,378,141 (GRCm39)	D119G	probably damaging	Het
Garre1	A	G	7: 33,953,436 (GRCm39)	I442T	possibly damaging	Het
Greb1	T	A	12: 16,730,225 (GRCm39)	Q1734L	probably benign	Het
Gtf2ird2	T	C	5: 134,245,857 (GRCm39)	L705P	probably damaging	Het
H13	T	A	2: 152,531,783 (GRCm39)		probably null	Het
Hgs	T	G	11: 120,373,678 (GRCm39)	Y708D	possibly damaging	Het
Hip1	T	C	5: 135,465,307 (GRCm39)	D367G	probably benign	Het
Ift140	C	T	17: 25,309,928 (GRCm39)	Q1112*	probably null	Het
Il17b	A	G	18: 61,823,342 (GRCm39)	M59V	probably benign	Het
Lpin3	T	C	2: 160,747,260 (GRCm39)	Y829H	probably damaging	Het
Lrrk2	A	T	15: 91,629,999 (GRCm39)	N1230I	probably damaging	Het
Mindy2	C	A	9: 70,514,731 (GRCm39)		probably benign	Het
Nup210	T	G	6: 91,046,175 (GRCm39)	E586A	probably benign	Het
Or1j17	A	T	2: 36,578,923 (GRCm39)	N303I	probably benign	Het
Or5be3	T	C	2: 86,863,939 (GRCm39)	T209A	probably benign	Het
Osgepl1	A	G	1: 53,362,372 (GRCm39)	I405V	probably damaging	Het
Pdcd11	T	C	19: 47,091,105 (GRCm39)	S360P	probably benign	Het
Plekha6	T	C	1: 133,197,915 (GRCm39)	S271P	probably damaging	Het
Plekhs1	A	G	19: 56,466,934 (GRCm39)	E255G	probably damaging	Het
Pram1	T	A	17: 33,860,373 (GRCm39)	N313K	possibly damaging	Het
Rapgef5	C	T	12: 117,685,034 (GRCm39)	S261L	probably benign	Het
Spint5	T	A	2: 164,558,920 (GRCm39)	C49S	probably damaging	Het
Tex22	T	A	12: 113,052,392 (GRCm39)	I150N	probably benign	Het
Thoc6	A	T	17: 23,888,824 (GRCm39)	W195R	probably damaging	Het
Tmem106a	T	C	11: 101,477,084 (GRCm39)	S98P	probably benign	Het
Tnfrsf18	A	G	4: 156,112,823 (GRCm39)	T170A	probably benign	Het
Tor1aip1	A	T	1: 155,882,821 (GRCm39)	D342E	probably damaging	Het
Trav7-6	T	C	14: 53,954,529 (GRCm39)	S20P	probably damaging	Het
Trpc6	C	T	9: 8,653,035 (GRCm39)	P614S	probably damaging	Het
Washc5	A	G	15: 59,215,947 (GRCm39)	F811L	possibly damaging	Het

Other mutations in Or2bd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02217:Or2bd2	APN	7	6,443,244 (GRCm39)	missense	probably damaging	0.96
IGL02689:Or2bd2	APN	7	6,443,574 (GRCm39)	missense	possibly damaging	0.95
IGL02935:Or2bd2	APN	7	6,443,753 (GRCm39)	missense	possibly damaging	0.91
R0100:Or2bd2	UTSW	7	6,443,399 (GRCm39)	missense	probably damaging	1.00
R0108:Or2bd2	UTSW	7	6,443,399 (GRCm39)	missense	probably damaging	1.00
R4041:Or2bd2	UTSW	7	6,443,688 (GRCm39)	missense	probably damaging	1.00
R4247:Or2bd2	UTSW	7	6,441,901 (GRCm39)	utr 5 prime	probably benign
R5275:Or2bd2	UTSW	7	6,443,015 (GRCm39)	missense	probably benign	0.01
R5475:Or2bd2	UTSW	7	6,443,169 (GRCm39)	missense	probably benign	0.21
R6016:Or2bd2	UTSW	7	6,443,613 (GRCm39)	missense	probably benign
R6048:Or2bd2	UTSW	7	6,443,354 (GRCm39)	missense	possibly damaging	0.58
R6541:Or2bd2	UTSW	7	6,443,492 (GRCm39)	missense	probably benign	0.04
R7945:Or2bd2	UTSW	7	6,443,354 (GRCm39)	missense	probably benign
R8134:Or2bd2	UTSW	7	6,441,922 (GRCm39)	utr 5 prime	probably benign
R8893:Or2bd2	UTSW	7	6,443,285 (GRCm39)	missense	probably damaging	1.00
R8956:Or2bd2	UTSW	7	6,442,020 (GRCm39)	splice site	probably benign
R9211:Or2bd2	UTSW	7	6,443,417 (GRCm39)	missense	probably damaging	1.00
R9639:Or2bd2	UTSW	7	6,443,290 (GRCm39)	missense	probably benign	0.12
X0060:Or2bd2	UTSW	7	6,443,074 (GRCm39)	missense	probably damaging	1.00
Z1177:Or2bd2	UTSW	7	6,443,820 (GRCm39)	missense	probably benign	0.21

Posted On

2013-01-20