Mutagenetix > Incidental Mutation

Incidental Mutation 'R2418:Or52d3'

249071

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

MMRRC Submission

040380-MU

Accession Numbers

Essential gene?

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

Stock #

R2418 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104228831-104229876 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104229141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 96 (H96L)

Ref Sequence

ENSEMBL: ENSMUSP00000149192 (fasta)

Gene Model

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

AlphaFold

E9PVA0

Predicted Effect

probably benign
Transcript: ENSMUST00000098174
AA Change: H96L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000095776
Gene: ENSMUSG00000073926
AA Change: H96L

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 benign
Transcript: ENSMUST00000215585
AA Change: H96L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000217466
AA Change: H96L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

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
Abca2	G	A	2: 25,328,001 (GRCm39)	A768T	probably benign	Het
Acox3	A	G	5: 35,761,982 (GRCm39)	N442S	probably benign	Het
Acp5	C	A	9: 22,041,248 (GRCm39)	V60L	probably benign	Het
Arap3	T	C	18: 38,122,997 (GRCm39)	D501G	probably damaging	Het
Bcorl1	A	G	X: 47,459,418 (GRCm39)	T425A	probably damaging	Het
Btd	G	A	14: 31,363,093 (GRCm39)		probably null	Het
Cfap251	A	C	5: 123,392,331 (GRCm39)		probably benign	Het
Cfap74	T	A	4: 155,540,166 (GRCm39)		probably benign	Het
Cnot8	G	A	11: 58,006,136 (GRCm39)	G222R	probably damaging	Het
Col4a4	G	T	1: 82,510,657 (GRCm39)	A205E	unknown	Het
Cwf19l1	T	C	19: 44,119,911 (GRCm39)	T77A	probably benign	Het
Cyp2b9	A	G	7: 25,886,132 (GRCm39)	T100A	probably benign	Het
Ddx24	A	G	12: 103,383,996 (GRCm39)	L485P	probably damaging	Het
Dnah9	A	T	11: 65,986,241 (GRCm39)	L1131*	probably null	Het
Dnase1l3	T	A	14: 7,968,089 (GRCm38)	E272V	possibly damaging	Het
Dscc1	G	A	15: 54,946,820 (GRCm39)	R302*	probably null	Het
Elk3	T	C	10: 93,120,689 (GRCm39)	N50S	probably damaging	Het
Fmo3	A	T	1: 162,794,527 (GRCm39)	I181K	probably benign	Het
Golga3	T	C	5: 110,349,734 (GRCm39)	I655T	probably damaging	Het
Hspa1l	A	T	17: 35,196,164 (GRCm39)	T68S	probably benign	Het
Itgax	C	T	7: 127,741,505 (GRCm39)	R839W	probably damaging	Het
Itk	A	G	11: 46,229,044 (GRCm39)	F379L	probably damaging	Het
Kif7	C	A	7: 79,348,441 (GRCm39)	R1300L	probably benign	Het
Klkb1	A	T	8: 45,742,149 (GRCm39)	D43E	possibly damaging	Het
Kmt5b	C	T	19: 3,857,266 (GRCm39)	A318V	probably benign	Het
Krt78	T	C	15: 101,855,069 (GRCm39)	Y914C	probably benign	Het
Lactb2	T	C	1: 13,730,563 (GRCm39)	T38A	possibly damaging	Het
Lmbr1l	A	C	15: 98,805,418 (GRCm39)	F361C	possibly damaging	Het
Magi1	T	C	6: 93,722,891 (GRCm39)	D329G	probably damaging	Het
Map3k5	T	A	10: 19,986,603 (GRCm39)	V939E	probably benign	Het
Mcm8	C	T	2: 132,666,658 (GRCm39)	A233V	probably benign	Het
Mcur1	C	T	13: 43,703,013 (GRCm39)	V241M	possibly damaging	Het
Mical2	G	T	7: 111,919,941 (GRCm39)		probably null	Het
Nudt13	A	G	14: 20,361,581 (GRCm39)	E219G	probably damaging	Het
Or4c107	A	G	2: 88,789,380 (GRCm39)	N190S	probably benign	Het
Or6b1	A	G	6: 42,814,983 (GRCm39)	H56R	probably benign	Het
Osbpl7	A	C	11: 96,950,004 (GRCm39)	D395A	probably benign	Het
Osbpl9	A	G	4: 108,923,415 (GRCm39)	C495R	probably damaging	Het
Pcdhac1	T	C	18: 37,224,381 (GRCm39)	L398P	probably benign	Het
Pcnx4	T	A	12: 72,603,037 (GRCm39)	F433Y	probably damaging	Het
Pdp1	G	A	4: 11,961,838 (GRCm39)	P158S	probably damaging	Het
Pkd1l3	A	C	8: 110,397,353 (GRCm39)	*2152C	probably null	Het
Plcxd3	G	T	15: 4,604,245 (GRCm39)	K284N	probably benign	Het
Plxnb2	A	G	15: 89,045,272 (GRCm39)	V1058A	possibly damaging	Het
Ptbp1	T	C	10: 79,695,511 (GRCm39)	Y187H	probably damaging	Het
Resp18	T	C	1: 75,248,955 (GRCm39)	*176W	probably null	Het
Rps6ka2	A	C	17: 7,566,738 (GRCm39)	Q665H	possibly damaging	Het
Rtn1	T	C	12: 72,351,052 (GRCm39)	T386A	probably benign	Het
Samt2	A	T	X: 153,358,223 (GRCm39)		probably null	Het
Scn1a	T	C	2: 66,104,187 (GRCm39)	N1663S	probably damaging	Het
Smyd1	A	T	6: 71,216,537 (GRCm39)	I70N	probably damaging	Het
Tas2r105	T	C	6: 131,664,410 (GRCm39)	E6G	probably damaging	Het
Tchh	G	T	3: 93,352,936 (GRCm39)	R792L	unknown	Het
Tenm3	C	T	8: 48,729,693 (GRCm39)	D1438N	possibly damaging	Het
Tmem184b	A	G	15: 79,250,143 (GRCm39)	Y211H	possibly damaging	Het
Top3a	C	A	11: 60,638,842 (GRCm39)	G551V	possibly damaging	Het
Vmn1r168	A	T	7: 23,240,824 (GRCm39)	N227I	probably benign	Het
Vmn1r203	T	A	13: 22,709,004 (GRCm39)	S262T	possibly damaging	Het
Vmn1r204	T	G	13: 22,740,420 (GRCm39)	L17R	probably damaging	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
R2483:Or52d3	UTSW	7	104,229,149 (GRCm39)	missense	probably damaging	1.00
R3623: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'- TACATCCTTGCTCTGGTTGG -3'
(R):5'- TGTCCACAGAAGGGTAAACG -3'

Sequencing Primer
(F):5'- CTGGTTGGAAATGGTACCATCCTC -3'
(R):5'- TCCACAGAAGGGTAAACGTTCAATG -3'

Posted On

2014-11-12