Mutagenetix > Incidental Mutation

Incidental Mutation 'R8134:Or2bd2'

651989

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

067562-MU

Accession Numbers

Essential gene?

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

Stock #

R8134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6442901-6443866 bp(+) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

T to C at 6441922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151666 (fasta)

Gene Model

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

AlphaFold

Q7TQV3

Predicted Effect

unknown
Transcript: ENSMUST00000054781
AA Change: L90P

SMART Domains

Protein: ENSMUSP00000050428
Gene: ENSMUSG00000045929
AA Change: L90P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000168341

SMART Domains

Protein: ENSMUSP00000130328
Gene: ENSMUSG00000090824

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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.5%
20x: 93.5%

Validation Efficiency

99% (71/72)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	G	A	8: 80,425,982 (GRCm39)	P265L	probably benign	Het
Adam20	A	G	8: 41,249,101 (GRCm39)	T404A	probably benign	Het
Anp32a	G	T	9: 62,284,863 (GRCm39)	R237L	unknown	Het
Ascc3	A	G	10: 50,643,554 (GRCm39)	D1835G	probably benign	Het
Atg9b	A	G	5: 24,590,220 (GRCm39)		probably null	Het
Bard1	A	T	1: 71,106,297 (GRCm39)	N443K	probably damaging	Het
Btnl1	A	G	17: 34,604,647 (GRCm39)	D476G	possibly damaging	Het
C2cd3	A	T	7: 100,067,711 (GRCm39)	I487F		Het
Cadm4	A	G	7: 24,203,030 (GRCm39)	E384G	possibly damaging	Het
Camsap3	A	G	8: 3,648,075 (GRCm39)	K128E	probably benign	Het
Casz1	C	T	4: 149,027,492 (GRCm39)	P1005S	probably damaging	Het
Cd38	C	A	5: 44,058,790 (GRCm39)	L135M	probably damaging	Het
Cdk20	A	G	13: 64,585,734 (GRCm39)	E244G	probably benign	Het
Cfap54	A	T	10: 92,714,378 (GRCm39)	V2667D	unknown	Het
Col11a1	A	G	3: 114,012,435 (GRCm39)	K1792E	unknown	Het
Cpne9	A	T	6: 113,272,003 (GRCm39)	D377V	probably benign	Het
Csmd1	A	T	8: 15,982,550 (GRCm39)	C2706S	probably damaging	Het
Ctnnbl1	T	C	2: 157,651,391 (GRCm39)	V222A	probably benign	Het
Frmpd2	T	C	14: 33,227,452 (GRCm39)	S277P	probably benign	Het
Herc2	C	T	7: 55,734,884 (GRCm39)	T158I	probably benign	Het
Hoxa4	G	T	6: 52,167,537 (GRCm39)	H215N	possibly damaging	Het
Hpd	G	T	5: 123,312,443 (GRCm39)	Q309K	probably benign	Het
Il20ra	A	G	10: 19,626,452 (GRCm39)	T159A	probably damaging	Het
Ints10	T	A	8: 69,255,638 (GRCm39)	Y209*	probably null	Het
Ints2	A	G	11: 86,103,486 (GRCm39)	I1190T	probably damaging	Het
Jhy	A	G	9: 40,872,188 (GRCm39)	V107A	probably null	Het
Kdm4d	C	T	9: 14,374,532 (GRCm39)	R442H	probably damaging	Het
Kifbp	T	C	10: 62,413,756 (GRCm39)	Y134C	probably benign	Het
Klb	A	T	5: 65,540,958 (GRCm39)	H1017L	probably benign	Het
Kndc1	T	A	7: 139,481,285 (GRCm39)		probably null	Het
Krtap4-1	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	11: 99,518,660 (GRCm39)		probably benign	Het
Lrrn3	T	C	12: 41,503,047 (GRCm39)	I423M	probably damaging	Het
Magi2	T	G	5: 20,596,365 (GRCm39)	F274L	probably damaging	Het
Magi2	T	A	5: 20,596,392 (GRCm39)	D283E	probably benign	Het
Map3k19	A	C	1: 127,751,492 (GRCm39)	S620A	probably damaging	Het
Meis2	C	T	2: 115,697,369 (GRCm39)	M388I	probably benign	Het
Ms4a3	G	C	19: 11,615,613 (GRCm39)	H54Q	probably benign	Het
Nfe2l1	A	T	11: 96,710,585 (GRCm39)	M548K	possibly damaging	Het
Ninl	C	T	2: 150,792,234 (GRCm39)	C763Y	probably benign	Het
Numa1	T	C	7: 101,650,834 (GRCm39)	F1522L	probably benign	Het
Or13a25	T	A	7: 140,247,680 (GRCm39)	I153N	possibly damaging	Het
Pcdhgc3	G	A	18: 37,939,916 (GRCm39)	V106I	probably benign	Het
Phf3	A	G	1: 30,863,552 (GRCm39)	V152A	unknown	Het
Pira1	A	G	7: 3,738,838 (GRCm39)	S590P	probably damaging	Het
Plcg2	A	T	8: 118,284,057 (GRCm39)	D118V	probably damaging	Het
Pnpla1	A	G	17: 29,097,443 (GRCm39)	D203G	probably damaging	Het
Ppip5k2	A	T	1: 97,672,888 (GRCm39)	M474K	probably benign	Het
Ppp1r12b	T	C	1: 134,814,280 (GRCm39)	E341G	possibly damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rrs1	C	T	1: 9,615,645 (GRCm39)		probably benign	Het
Scaf11	T	C	15: 96,318,592 (GRCm39)	N324S	probably damaging	Het
Spaca1	T	A	4: 34,042,157 (GRCm39)		probably null	Het
Sun3	G	T	11: 8,979,346 (GRCm39)	D118E	probably benign	Het
Svop	C	T	5: 114,180,992 (GRCm39)	V215I	probably benign	Het
Tbc1d15	A	T	10: 115,045,474 (GRCm39)	C497S	probably damaging	Het
Tdrd6	A	T	17: 43,937,064 (GRCm39)	I1328N	probably damaging	Het
Tuba8	T	A	6: 121,198,381 (GRCm39)	D116E	probably benign	Het
Ube2z	A	G	11: 95,949,200 (GRCm39)	I213T	possibly damaging	Het
Ubqln4	G	A	3: 88,462,797 (GRCm39)		probably null	Het
Vps13a	A	G	19: 16,631,718 (GRCm39)	I2639T	possibly damaging	Het
Zfp217	G	A	2: 169,961,571 (GRCm39)	S252F	possibly damaging	Het
Zfp94	A	T	7: 24,003,166 (GRCm39)	V92E	probably benign	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
R7945:Or2bd2	UTSW	7	6,443,354 (GRCm39)	missense	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'- AAGTGTGGTCCCAATGTCC -3'
(R):5'- TTTGTACAACGGGCTCTCTGG -3'

Sequencing Primer
(F):5'- GTGGTCCCAATGTCCTGACCTAG -3'
(R):5'- TACAACGGGCTCTCTGGATCAC -3'

Posted On

2020-09-18