Mutagenetix > Incidental Mutation

Incidental Mutation 'R7945:Or2bd2'

649287

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

Accession Numbers

Essential gene?

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

Stock #

R7945 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6442901-6443866 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6443354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 152 (T152A)

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 benign
Transcript: ENSMUST00000168341
AA Change: T152A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000130328
Gene: ENSMUSG00000090824
AA Change: T152A

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 benign
Transcript: ENSMUST00000218906
AA Change: T152A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	T	A	8: 13,271,929 (GRCm39)	R1610W	probably damaging	Het
Afg3l1	C	A	8: 124,216,661 (GRCm39)	A300E	probably benign	Het
Ano6	A	G	15: 95,839,190 (GRCm39)	Y423C	probably damaging	Het
Armh4	T	A	14: 50,010,670 (GRCm39)	T346S	probably benign	Het
Bltp1	G	A	3: 37,020,042 (GRCm39)	V2093I	probably benign	Het
Casp8ap2	A	G	4: 32,645,909 (GRCm39)	T1661A	probably benign	Het
Cdc42ep1	T	A	15: 78,731,973 (GRCm39)	S139R	possibly damaging	Het
Cep57	A	G	9: 13,730,227 (GRCm39)	Y104H	probably damaging	Het
Chrna4	T	C	2: 180,670,454 (GRCm39)	D434G	probably benign	Het
Clec1a	T	C	6: 129,409,150 (GRCm39)	S159G	probably benign	Het
Cltc	A	T	11: 86,627,967 (GRCm39)	N60K	probably benign	Het
Cpq	T	A	15: 33,594,382 (GRCm39)	D464E	probably benign	Het
Ctcfl	A	C	2: 172,960,451 (GRCm39)	V44G	probably benign	Het
Dcstamp	T	A	15: 39,623,797 (GRCm39)	*471R	probably null	Het
Disp2	G	A	2: 118,623,270 (GRCm39)	R1334H	probably damaging	Het
Dspp	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	5: 104,326,227 (GRCm39)		probably benign	Het
Ephb3	A	G	16: 21,040,434 (GRCm39)	T811A	probably damaging	Het
Fbxo21	T	C	5: 118,146,212 (GRCm39)	Y612H	possibly damaging	Het
Gm8005	T	A	14: 42,260,330 (GRCm39)	D102V		Het
Golgb1	T	C	16: 36,734,466 (GRCm39)	S1279P	probably benign	Het
Hdgfl3	T	C	7: 81,583,706 (GRCm39)	Y22C	possibly damaging	Het
Hpse2	T	C	19: 43,373,248 (GRCm39)	N127S	probably benign	Het
Hrnr	G	T	3: 93,239,506 (GRCm39)	G3248V	unknown	Het
Krtap27-1	T	C	16: 88,468,340 (GRCm39)	N68S	probably benign	Het
Lipo3	T	C	19: 33,533,831 (GRCm39)	M334V	probably benign	Het
Lrrc34	A	G	3: 30,696,886 (GRCm39)		probably null	Het
Ltbp1	T	G	17: 75,697,546 (GRCm39)	*1713G	probably null	Het
Lypd6b	A	G	2: 49,833,612 (GRCm39)	E84G	probably damaging	Het
Meiosin	T	A	7: 18,834,011 (GRCm39)	K508N	unknown	Het
Mitd1	T	C	1: 37,924,346 (GRCm39)	Y68C	probably damaging	Het
Mrgprx2	T	C	7: 48,132,753 (GRCm39)	T22A	probably benign	Het
Mroh4	C	T	15: 74,496,554 (GRCm39)	E278K	probably damaging	Het
Mtmr4	T	C	11: 87,495,254 (GRCm39)	V437A	probably damaging	Het
Neb	T	C	2: 52,161,360 (GRCm39)	D2144G	probably damaging	Het
Obscn	T	A	11: 58,984,235 (GRCm39)	E1740V	probably damaging	Het
Or8i2	A	G	2: 86,852,657 (GRCm39)	V77A	probably benign	Het
Pcsk1	G	A	13: 75,280,211 (GRCm39)	A679T	probably benign	Het
Pdap1	G	A	5: 145,068,249 (GRCm39)	A138V	probably damaging	Het
Pdzph1	T	C	17: 59,239,455 (GRCm39)	T958A	probably damaging	Het
Plekha5	T	A	6: 140,526,201 (GRCm39)	H946Q	possibly damaging	Het
Ppat	C	A	5: 77,063,238 (GRCm39)	V458L	probably benign	Het
Rock1	A	G	18: 10,116,831 (GRCm39)	L435P	probably damaging	Het
Rtn2	T	A	7: 19,020,987 (GRCm39)	S153R	probably benign	Het
Serpinb1c	A	T	13: 33,070,192 (GRCm39)	H123Q	probably benign	Het
Slc1a5	C	A	7: 16,523,807 (GRCm39)	R271S	possibly damaging	Het
Slc23a3	A	G	1: 75,106,040 (GRCm39)		probably null	Het
Slc7a6	C	T	8: 106,906,239 (GRCm39)	P157L	possibly damaging	Het
Syne2	A	T	12: 75,951,079 (GRCm39)	E410V	probably damaging	Het
Tasor2	A	T	13: 3,626,085 (GRCm39)	S1288R	probably benign	Het
Thoc2l	G	T	5: 104,666,413 (GRCm39)	V312F	possibly damaging	Het
Treh	T	C	9: 44,592,584 (GRCm39)	V63A	probably damaging	Het
Trim50	T	A	5: 135,382,156 (GRCm39)	W3R	probably benign	Het
Ttc6	T	G	12: 57,707,229 (GRCm39)	L712R	possibly damaging	Het
Ttn	G	T	2: 76,715,309 (GRCm39)	Q7928K	unknown	Het
Ugt3a1	T	C	15: 9,284,261 (GRCm39)		probably null	Het
Wapl	T	C	14: 34,399,105 (GRCm39)	I58T	probably benign	Het
Zgrf1	A	G	3: 127,356,409 (GRCm39)	E545G	probably benign	Het
Zmat4	T	A	8: 24,238,436 (GRCm39)	I6N	possibly damaging	Het
Zp3r	G	T	1: 130,524,560 (GRCm39)	P226Q	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- ACACATGACCATGCGCAGTG -3'
(R):5'- CCAGAATCCAGGTGTAAGAGGC -3'

Sequencing Primer
(F):5'- GTGCCCGCCTCTCCCTG -3'
(R):5'- TCCAGGTGTAAGAGGCTAGGATG -3'

Posted On

2020-09-15