Mutagenetix > Incidental Mutation

Incidental Mutation 'R8893:Or2bd2'

677830

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

068696-MU

Accession Numbers

Essential gene?

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

Stock #

R8893 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6442901-6443866 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6443285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 129 (C129R)

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: C129R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130328
Gene: ENSMUSG00000090824
AA Change: C129R

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: C129R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.7833

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (57/58)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	T	C	8: 13,274,511 (GRCm39)	D749G	probably benign	Het
Ank1	T	A	8: 23,598,241 (GRCm39)	I782N	probably damaging	Het
Arap2	T	A	5: 62,888,037 (GRCm39)	Q436H	probably damaging	Het
Baz2b	A	C	2: 59,755,149 (GRCm39)	F269L	probably damaging	Het
Bivm	C	T	1: 44,158,439 (GRCm39)		probably benign	Het
Brsk1	A	T	7: 4,711,089 (GRCm39)	D603V	probably damaging	Het
C2cd3	C	T	7: 100,104,004 (GRCm39)	P2006S	probably benign	Het
Cacna1a	T	C	8: 85,313,764 (GRCm39)	F1513L	probably benign	Het
Cdin1	T	A	2: 115,505,265 (GRCm39)	S179T	probably benign	Het
Cep128	C	T	12: 91,263,006 (GRCm39)	E298K	probably damaging	Het
Cfap74	A	G	4: 155,531,152 (GRCm39)	T802A	unknown	Het
Cnbd2	G	A	2: 156,154,460 (GRCm39)	R3Q	unknown	Het
Cul9	TTCCTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCCTC	17: 46,811,775 (GRCm39)		probably benign	Het
Defa28	C	T	8: 22,073,840 (GRCm39)	T81I		Het
Dync1h1	A	G	12: 110,608,477 (GRCm39)	D2735G	probably damaging	Het
Eif5b	A	T	1: 38,090,300 (GRCm39)	I1160F	possibly damaging	Het
Fzd9	T	C	5: 135,279,178 (GRCm39)	M236V	possibly damaging	Het
H2ac7	A	G	13: 23,758,664 (GRCm39)	Q7R	unknown	Het
Haus6	A	G	4: 86,501,364 (GRCm39)	S836P	possibly damaging	Het
Hdac5	T	A	11: 102,097,512 (GRCm39)	K167I	possibly damaging	Het
Heatr5b	C	G	17: 79,069,424 (GRCm39)		probably benign	Het
Impdh1	G	A	6: 29,216,248 (GRCm39)		probably benign	Het
Iqgap3	T	C	3: 87,997,193 (GRCm39)	I192T	probably damaging	Het
Lama1	C	T	17: 68,112,367 (GRCm39)	A2269V		Het
Lamb3	A	G	1: 193,014,644 (GRCm39)	N601S	probably damaging	Het
Ltbp2	G	T	12: 84,875,316 (GRCm39)	N569K	probably damaging	Het
Macf1	T	C	4: 123,304,323 (GRCm39)	S60G	probably benign	Het
Marchf6	A	T	15: 31,498,850 (GRCm39)	V149E	probably damaging	Het
Mcu	A	G	10: 59,287,078 (GRCm39)	S160P	probably benign	Het
Miga1	A	G	3: 151,982,294 (GRCm39)	L594P	probably damaging	Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Ndst2	A	G	14: 20,774,830 (GRCm39)	I791T	probably benign	Het
Nebl	A	T	2: 17,735,671 (GRCm39)	M1K	probably null	Het
Or5c1	A	G	2: 37,222,388 (GRCm39)	I210V	probably damaging	Het
Ormdl1	A	T	1: 53,344,708 (GRCm39)	D90V	probably damaging	Het
Pank1	A	T	19: 34,804,903 (GRCm39)		probably benign	Het
Pcdhac2	T	A	18: 37,277,071 (GRCm39)	L17Q	probably benign	Het
Pde3a	A	T	6: 141,405,522 (GRCm39)	D458V	probably damaging	Het
Pgm1	T	G	4: 99,824,297 (GRCm39)	N323K	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Pigw	A	T	11: 84,767,961 (GRCm39)	I456K	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plxnc1	T	A	10: 94,685,709 (GRCm39)	I761L	probably benign	Het
Pramel22	A	T	4: 143,382,060 (GRCm39)	M212K	probably damaging	Het
Prkaca	A	G	8: 84,717,151 (GRCm39)	N172D	probably damaging	Het
Rab3b	A	C	4: 108,797,925 (GRCm39)	D192A	probably benign	Het
Rims2	T	C	15: 39,398,350 (GRCm39)	L1105P	probably benign	Het
Rinl	T	A	7: 28,491,747 (GRCm39)	I100N	probably damaging	Het
Rnf13	T	G	3: 57,714,520 (GRCm39)	I193S	probably damaging	Het
Rnf213	A	G	11: 119,333,868 (GRCm39)	I3027V		Het
Sik2	A	T	9: 50,810,026 (GRCm39)	S512R	probably damaging	Het
Snx17	A	G	5: 31,353,887 (GRCm39)	Y225C	probably damaging	Het
Spata13	A	T	14: 60,987,524 (GRCm39)	D894V	probably damaging	Het
Spx	A	G	6: 142,360,543 (GRCm39)	D65G	probably damaging	Het
Syne1	G	T	10: 5,299,020 (GRCm39)	S1022*	probably null	Het
Tchh	C	T	3: 93,354,957 (GRCm39)	Q1466*	probably null	Het
Tmem120b	T	C	5: 123,254,302 (GRCm39)	L292P	probably damaging	Het
Vmn2r10	T	C	5: 109,143,677 (GRCm39)	T758A	probably benign	Het
Vmn2r45	C	T	7: 8,488,619 (GRCm39)	C137Y	probably damaging	Het
Zfp994	A	G	17: 22,424,306 (GRCm39)	S4P	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
R7945:Or2bd2	UTSW	7	6,443,354 (GRCm39)	missense	probably benign
R8134:Or2bd2	UTSW	7	6,441,922 (GRCm39)	utr 5 prime	probably benign
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'- TCTGATAGCCTTGGACAGACG -3'
(R):5'- AGCTCACAGAAGAAGTGGTC -3'

Sequencing Primer
(F):5'- TTGGACAGACGACTGCATC -3'
(R):5'- TCACAGAAGAAGTGGTCCACCG -3'

Posted On

2021-08-02