Mutagenetix > Incidental Mutation

Incidental Mutation 'R3623:Or52d3'

268729

Institutional Source

Beutler Lab

Gene Symbol

Or52d3

Ensembl Gene

ENSMUSG00000073926

Gene Name

olfactory receptor family 52 subfamily D member 3

Synonyms

GA_x6K02T2PBJ9-7206970-7207923, Olfr653, MOR33-1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R3623 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104228831-104229876 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104229149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 99 (S99P)

Ref Sequence

ENSEMBL: ENSMUSP00000149192 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098174] [ENSMUST00000215585] [ENSMUST00000217466]

AlphaFold

E9PVA0

Predicted Effect

probably damaging
Transcript: ENSMUST00000098174
AA Change: S99P

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

SMART Domains

Protein: ENSMUSP00000095776
Gene: ENSMUSG00000073926
AA Change: S99P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	37	316	2.2e-111	PFAM
Pfam:7TM_GPCR_Srsx	41	179	4.6e-10	PFAM
Pfam:7tm_1	47	298	5.9e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215585
AA Change: S99P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000217466
AA Change: S99P

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

Meta Mutation Damage Score

0.1087

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (69/69)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	A	G	11: 7,080,348 (GRCm39)	T364A	probably benign	Het
Adpgk	G	A	9: 59,221,036 (GRCm39)	V281I	probably benign	Het
Akap9	C	A	5: 4,026,235 (GRCm39)	Q1297K	possibly damaging	Het
Ankrd13d	T	C	19: 4,331,968 (GRCm39)	E110G	probably damaging	Het
Ankrd53	A	G	6: 83,740,244 (GRCm39)	E104G	possibly damaging	Het
Becn2	T	C	1: 175,748,197 (GRCm39)	C88R	possibly damaging	Het
Bscl2	T	A	19: 8,818,514 (GRCm39)	C40S	probably benign	Het
Btaf1	A	G	19: 36,958,486 (GRCm39)	T668A	probably benign	Het
Camk2g	G	A	14: 20,805,775 (GRCm39)		probably benign	Het
Cd109	A	T	9: 78,574,639 (GRCm39)	D541V	probably damaging	Het
Cep135	G	A	5: 76,772,586 (GRCm39)	G657D	probably benign	Het
Coch	A	G	12: 51,649,609 (GRCm39)	I307V	probably benign	Het
D17H6S53E	A	G	17: 35,346,512 (GRCm39)	E141G	probably benign	Het
Ddias	T	C	7: 92,508,800 (GRCm39)	T372A	probably benign	Het
Dffb	T	C	4: 154,049,976 (GRCm39)	T296A	probably damaging	Het
Dock8	A	G	19: 25,057,241 (GRCm39)	Q216R	probably benign	Het
Ep400	T	C	5: 110,867,102 (GRCm39)	Y1014C	unknown	Het
Ephx1	A	G	1: 180,817,498 (GRCm39)	I391T	probably benign	Het
Fcgbp	A	G	7: 27,800,701 (GRCm39)	Y1249C	probably damaging	Het
Gm5592	T	C	7: 40,807,052 (GRCm39)		probably benign	Het
Gm7964	A	G	7: 83,405,629 (GRCm39)	N149S	probably benign	Het
Greb1l	T	A	18: 10,542,380 (GRCm39)	I1325N	probably damaging	Het
H2-T3	T	C	17: 36,500,957 (GRCm39)	T20A	possibly damaging	Het
Htr1d	T	C	4: 136,170,815 (GRCm39)	I348T	probably damaging	Het
Hyal4	A	T	6: 24,765,737 (GRCm39)	S364C	probably damaging	Het
Igkv1-133	A	T	6: 67,701,944 (GRCm39)	Q16L	probably benign	Het
Irs2	C	T	8: 11,057,643 (GRCm39)	G263D	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Kmt2a	A	G	9: 44,760,263 (GRCm39)	Y529H	probably damaging	Het
Mdfic	T	A	6: 15,770,319 (GRCm39)	N108K	probably damaging	Het
Met	A	T	6: 17,549,085 (GRCm39)	D979V	probably damaging	Het
Mettl21e	T	A	1: 44,245,857 (GRCm39)	I130F	probably damaging	Het
Mlh3	C	T	12: 85,315,169 (GRCm39)	C339Y	probably damaging	Het
Mog	T	C	17: 37,323,338 (GRCm39)	H200R	possibly damaging	Het
Msrb3	C	T	10: 120,620,103 (GRCm39)	R72H	probably damaging	Het
Mtmr11	A	G	3: 96,072,583 (GRCm39)	H324R	probably damaging	Het
Myh7	T	C	14: 55,210,838 (GRCm39)	E1693G	probably damaging	Het
Nadk2	T	A	15: 9,084,303 (GRCm39)	W139R	probably damaging	Het
Ndufa9	A	T	6: 126,821,362 (GRCm39)	M76K	possibly damaging	Het
Nr1i2	A	G	16: 38,086,269 (GRCm39)		probably benign	Het
Nsd3	A	G	8: 26,152,835 (GRCm39)	T392A	probably damaging	Het
Or14a259	A	G	7: 86,013,308 (GRCm39)	F79S	probably benign	Het
P2ry2	A	T	7: 100,647,706 (GRCm39)	S200T	probably benign	Het
Pcnt	T	A	10: 76,269,584 (GRCm39)	E228V	probably benign	Het
Phka2	T	A	X: 159,327,291 (GRCm39)	Y334*	probably null	Het
Pkhd1l1	A	T	15: 44,390,265 (GRCm39)	K1460N	probably damaging	Het
Rpl7a-ps3	G	A	15: 36,308,429 (GRCm39)		noncoding transcript	Het
Rspry1	A	G	8: 95,376,405 (GRCm39)	D309G	probably damaging	Het
Scap	A	G	9: 110,209,271 (GRCm39)	Y648C	probably damaging	Het
Sgcz	T	C	8: 38,420,201 (GRCm39)	E17G	probably damaging	Het
Slc17a5	A	T	9: 78,445,556 (GRCm39)	V433D	probably damaging	Het
Smad9	C	T	3: 54,696,705 (GRCm39)	R257W	probably damaging	Het
Srcap	T	C	7: 127,141,319 (GRCm39)	S1639P	probably damaging	Het
Strn3	T	C	12: 51,707,999 (GRCm39)	Y132C	possibly damaging	Het
Tas2r110	A	T	6: 132,845,433 (GRCm39)	M155L	probably benign	Het
Tasor2	T	C	13: 3,645,556 (GRCm39)	T98A	probably benign	Het
Thbd	A	G	2: 148,248,893 (GRCm39)	V325A	probably damaging	Het
Trpd52l3	T	A	19: 29,981,333 (GRCm39)	C29*	probably null	Het
Trpm1	A	G	7: 63,894,601 (GRCm39)	Y951C	probably damaging	Het
Ube3a	T	A	7: 58,921,860 (GRCm39)	N77K	probably damaging	Het
Upp2	G	A	2: 58,680,128 (GRCm39)	R300Q	possibly damaging	Het
Usp35	T	C	7: 96,961,827 (GRCm39)	H533R	probably damaging	Het
Veph1	C	T	3: 66,122,858 (GRCm39)	V224I	probably benign	Het
Vmn1r30	A	T	6: 58,412,437 (GRCm39)	F132I	probably benign	Het
Vmn2r24	A	G	6: 123,792,997 (GRCm39)	R775G	probably damaging	Het
Vps13c	T	A	9: 67,883,189 (GRCm39)		probably null	Het
Vps37c	T	A	19: 10,683,569 (GRCm39)		probably null	Het
Zap70	C	T	1: 36,818,216 (GRCm39)	T301I	probably benign	Het
Zfp341	A	G	2: 154,466,801 (GRCm39)	K57E	probably damaging	Het
Zfp60	T	A	7: 27,448,753 (GRCm39)	F474I	probably benign	Het
Zfp786	T	C	6: 47,798,357 (GRCm39)	N194D	probably benign	Het

Other mutations in Or52d3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01588:Or52d3	APN	7	104,229,150 (GRCm39)	missense	probably damaging	1.00
I2288:Or52d3	UTSW	7	104,229,593 (GRCm39)	missense	probably damaging	1.00
PIT4131001:Or52d3	UTSW	7	104,229,237 (GRCm39)	missense	probably damaging	0.99
R0325:Or52d3	UTSW	7	104,229,567 (GRCm39)	missense	probably damaging	1.00
R1579:Or52d3	UTSW	7	104,229,268 (GRCm39)	nonsense	probably null
R1599:Or52d3	UTSW	7	104,228,855 (GRCm39)	start codon destroyed	probably null
R1956:Or52d3	UTSW	7	104,229,116 (GRCm39)	missense	probably damaging	1.00
R2134:Or52d3	UTSW	7	104,228,848 (GRCm39)	start gained	probably benign
R2418:Or52d3	UTSW	7	104,229,141 (GRCm39)	missense	probably benign	0.00
R2483:Or52d3	UTSW	7	104,229,149 (GRCm39)	missense	probably damaging	1.00
R4049:Or52d3	UTSW	7	104,229,575 (GRCm39)	missense	probably benign
R4755:Or52d3	UTSW	7	104,229,268 (GRCm39)	nonsense	probably null
R4757:Or52d3	UTSW	7	104,229,404 (GRCm39)	missense	possibly damaging	0.95
R4828:Or52d3	UTSW	7	104,229,180 (GRCm39)	missense	possibly damaging	0.62
R4842:Or52d3	UTSW	7	104,229,422 (GRCm39)	missense	probably benign	0.45
R5496:Or52d3	UTSW	7	104,229,701 (GRCm39)	missense	probably damaging	1.00
R6830:Or52d3	UTSW	7	104,229,447 (GRCm39)	missense	probably damaging	1.00
R7320:Or52d3	UTSW	7	104,229,645 (GRCm39)	nonsense	probably null
R7590:Or52d3	UTSW	7	104,229,149 (GRCm39)	missense	probably damaging	1.00
R7968:Or52d3	UTSW	7	104,229,595 (GRCm39)	nonsense	probably null
R8491:Or52d3	UTSW	7	104,229,242 (GRCm39)	missense	probably damaging	0.99
R9306:Or52d3	UTSW	7	104,229,128 (GRCm39)	missense	probably damaging	1.00
R9521:Or52d3	UTSW	7	104,228,855 (GRCm39)	start codon destroyed	probably null
R9557:Or52d3	UTSW	7	104,229,768 (GRCm39)	missense	probably damaging	1.00
R9682:Or52d3	UTSW	7	104,229,434 (GRCm39)	missense	probably damaging	1.00
RF020:Or52d3	UTSW	7	104,229,497 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCTTGGAATCCCTGGGATG -3'
(R):5'- GCATGCCAGGCCAATCTTTC -3'

Sequencing Primer
(F):5'- AATCCCTGGGATGCAGGATC -3'
(R):5'- TCCAATTACAACAGCATTGAGGATGG -3'

Posted On

2015-02-19