Mutagenetix > Incidental Mutation

Incidental Mutation 'R4985:Or2d2'

385823

Institutional Source

Beutler Lab

Gene Symbol

Or2d2

Ensembl Gene

ENSMUSG00000060503

Gene Name

olfactory receptor family 2 subfamily D member 2

Synonyms

Olfr715, MOR260-1, GA_x6K02T2PBJ9-9479517-9478573

MMRRC Submission

042579-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.364) question?

Stock #

R4985 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106727559-106728689 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 106728234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 122 (R122L)

Ref Sequence

ENSEMBL: ENSMUSP00000150168 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076958] [ENSMUST00000214919]

AlphaFold

Q8VG49

Predicted Effect

probably damaging
Transcript: ENSMUST00000076958
AA Change: R122L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000076225
Gene: ENSMUSG00000060503
AA Change: R122L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	306	1.6e-57	PFAM
Pfam:7TM_GPCR_Srsx	35	222	1.4e-8	PFAM
Pfam:7tm_1	41	288	1.7e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210247

Predicted Effect

probably damaging
Transcript: ENSMUST00000214919
AA Change: R122L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.8679

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (52/52)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921508M14Rik	A	T	12: 34,924,457 (GRCm39)		probably benign	Het
Actn4	A	G	7: 28,618,411 (GRCm39)	L83P	probably damaging	Het
Adgb	T	C	10: 10,276,376 (GRCm39)	R331G	possibly damaging	Het
Bmal1	T	C	7: 112,884,280 (GRCm39)	V106A	probably damaging	Het
Brf1	G	T	12: 112,932,990 (GRCm39)		probably null	Het
Cd248	C	T	19: 5,119,820 (GRCm39)	T556I	probably damaging	Het
Cdkn2aip	G	T	8: 48,166,480 (GRCm39)		probably benign	Het
Ces1d	T	C	8: 93,901,772 (GRCm39)	E399G	possibly damaging	Het
Col9a3	G	A	2: 180,245,193 (GRCm39)	R134H	unknown	Het
Ddb2	T	C	2: 91,042,643 (GRCm39)		probably null	Het
Dlg1	A	G	16: 31,606,953 (GRCm39)		probably null	Het
Dnah1	T	G	14: 31,008,855 (GRCm39)	E1973A	probably null	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
E130308A19Rik	A	G	4: 59,691,017 (GRCm39)	T284A	probably benign	Het
Ecm1	C	T	3: 95,643,415 (GRCm39)	R295H	possibly damaging	Het
Efcab5	T	A	11: 77,029,055 (GRCm39)	H92L	probably damaging	Het
Egfr	C	A	11: 16,809,029 (GRCm39)	Y74*	probably null	Het
Fbxo10	T	C	4: 45,040,692 (GRCm39)	I838V	probably benign	Het
Gfod2	C	T	8: 106,454,643 (GRCm39)	R79Q	probably damaging	Het
Gm11568	C	A	11: 99,749,274 (GRCm39)	P160T	unknown	Het
Gm29106	A	T	1: 118,126,950 (GRCm39)	D214V	probably benign	Het
Htr3b	C	A	9: 48,847,241 (GRCm39)	V425F	possibly damaging	Het
Krt86	A	T	15: 101,375,146 (GRCm39)	E347V	probably damaging	Het
Lamc2	T	C	1: 153,012,551 (GRCm39)	I708V	probably benign	Het
Ldb2	T	A	5: 44,637,645 (GRCm39)	K221I	probably damaging	Het
Lmntd2	A	C	7: 140,793,190 (GRCm39)	S127R	probably benign	Het
Lrba	A	G	3: 86,234,743 (GRCm39)		probably null	Het
Mettl26	T	A	17: 26,095,750 (GRCm39)	*202R	probably null	Het
Mmp24	A	G	2: 155,656,016 (GRCm39)	K485E	probably damaging	Het
Nap1l1	T	C	10: 111,325,944 (GRCm39)	C88R	probably benign	Het
Or8b49	T	A	9: 38,505,658 (GRCm39)	I47N	possibly damaging	Het
Pafah1b1	T	G	11: 74,576,814 (GRCm39)	D159A	probably damaging	Het
Pcdhga7	T	C	18: 37,848,698 (GRCm39)	V235A	probably benign	Het
Pcf11	T	C	7: 92,311,110 (GRCm39)	T293A	probably benign	Het
Pidd1	A	C	7: 141,018,504 (GRCm39)	*916E	probably null	Het
Pip4k2c	T	C	10: 127,035,244 (GRCm39)	I375V	probably benign	Het
Pou3f2	A	T	4: 22,487,588 (GRCm39)	S182T	probably benign	Het
Rin3	A	T	12: 102,334,821 (GRCm39)	D164V	unknown	Het
Rnf8	T	C	17: 29,845,834 (GRCm39)	S199P	possibly damaging	Het
Serpina6	A	G	12: 103,620,195 (GRCm39)	S185P	probably benign	Het
Slc47a2	C	A	11: 61,193,059 (GRCm39)	V565L	probably benign	Het
Slfn4	T	A	11: 83,078,033 (GRCm39)	F274I	probably damaging	Het
Tgif1	T	C	17: 71,151,867 (GRCm39)	Y248C	probably benign	Het
Tlx1	C	A	19: 45,139,421 (GRCm39)	Q23K	possibly damaging	Het
Trpv4	T	C	5: 114,760,793 (GRCm39)	D846G	probably benign	Het
Tspyl1	G	A	10: 34,158,334 (GRCm39)	D20N	probably benign	Het
Vmn1r159	A	T	7: 22,542,959 (GRCm39)	F24L	probably damaging	Het
Vmn1r204	T	A	13: 22,741,230 (GRCm39)	V287D	probably damaging	Het
Zdhhc18	A	G	4: 133,340,228 (GRCm39)		probably null	Het
Zfp276	T	G	8: 123,994,646 (GRCm39)	V571G	probably damaging	Het

Other mutations in Or2d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00963:Or2d2	APN	7	106,728,272 (GRCm39)	nonsense	probably null
IGL02238:Or2d2	APN	7	106,728,244 (GRCm39)	missense	probably damaging	1.00
H8562:Or2d2	UTSW	7	106,728,448 (GRCm39)	missense	probably benign	0.00
PIT4810001:Or2d2	UTSW	7	106,727,766 (GRCm39)	missense	probably benign	0.11
R0440:Or2d2	UTSW	7	106,727,939 (GRCm39)	missense	probably benign	0.03
R0592:Or2d2	UTSW	7	106,728,550 (GRCm39)	missense	probably benign	0.02
R1051:Or2d2	UTSW	7	106,728,123 (GRCm39)	missense	possibly damaging	0.94
R1959:Or2d2	UTSW	7	106,727,717 (GRCm39)	missense	possibly damaging	0.76
R4237:Or2d2	UTSW	7	106,728,244 (GRCm39)	missense	probably damaging	1.00
R4994:Or2d2	UTSW	7	106,728,271 (GRCm39)	missense	probably benign	0.03
R6376:Or2d2	UTSW	7	106,727,848 (GRCm39)	missense	probably benign	0.39
R6931:Or2d2	UTSW	7	106,728,108 (GRCm39)	missense	probably damaging	1.00
R7593:Or2d2	UTSW	7	106,727,782 (GRCm39)	missense	probably damaging	1.00
R7718:Or2d2	UTSW	7	106,727,925 (GRCm39)	missense	probably damaging	1.00
R8224:Or2d2	UTSW	7	106,728,079 (GRCm39)	missense	probably damaging	0.99
R8390:Or2d2	UTSW	7	106,728,522 (GRCm39)	missense	probably benign	0.02
R8756:Or2d2	UTSW	7	106,728,019 (GRCm39)	missense	probably benign
R9269:Or2d2	UTSW	7	106,727,833 (GRCm39)	missense	probably benign	0.16
R9741:Or2d2	UTSW	7	106,728,366 (GRCm39)	missense	possibly damaging	0.93
Z1177:Or2d2	UTSW	7	106,728,307 (GRCm39)	missense	probably benign	0.07
Z1177:Or2d2	UTSW	7	106,728,091 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCATCTCTGAAGTTTGAGTGTC -3'
(R):5'- TTCTGTGTAACTTGTCACTGGC -3'

Sequencing Primer
(F):5'- TGTCTGTAGAAGCCAGGGC -3'
(R):5'- GTCACTGGCTGACCTCTGC -3'

Posted On

2016-05-10