Mutagenetix > Incidental Mutation

Incidental Mutation 'R9557:Or52d3'

720802

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

Accession Numbers

Essential gene?

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

Stock #

R9557 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104228831-104229876 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104229768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 305 (I305T)

Ref Sequence

ENSEMBL: ENSMUSP00000149455 (fasta)

Gene Model

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

AlphaFold

E9PVA0

Predicted Effect

probably damaging
Transcript: ENSMUST00000098174
AA Change: I305T

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

SMART Domains

Protein: ENSMUSP00000095776
Gene: ENSMUSG00000073926
AA Change: I305T

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: I305T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000217466
AA Change: I305T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	T	A	3: 59,659,160 (GRCm39)	N204K	possibly damaging	Het
Aadacl2fm3	T	G	3: 59,784,654 (GRCm39)	F376V	possibly damaging	Het
Abca5	A	G	11: 110,197,109 (GRCm39)	L523P	probably damaging	Het
Adcy5	T	C	16: 35,091,327 (GRCm39)	V590A	probably damaging	Het
Alg1	A	T	16: 5,057,820 (GRCm39)	D238V	probably damaging	Het
Ankrd55	C	A	13: 112,485,347 (GRCm39)	P187H	probably damaging	Het
Aox4	G	T	1: 58,285,095 (GRCm39)	V616F	probably benign	Het
Apc	C	A	18: 34,451,412 (GRCm39)	H2769Q	probably damaging	Het
Bach1	C	G	16: 87,516,603 (GRCm39)	S381R	probably benign	Het
C2cd2l	G	A	9: 44,231,127 (GRCm39)	A20V	probably benign	Het
Catsperg1	T	C	7: 28,904,223 (GRCm39)	D266G	probably damaging	Het
Ces4a	A	G	8: 105,869,527 (GRCm39)	S233G	possibly damaging	Het
Comp	T	A	8: 70,829,854 (GRCm39)	D359E	probably benign	Het
Cyp2b13	A	C	7: 25,780,123 (GRCm39)	N91T	probably benign	Het
Dhx9	A	C	1: 153,333,292 (GRCm39)	M1151R	probably benign	Het
Dync2i2	G	A	2: 29,922,534 (GRCm39)	A366V	possibly damaging	Het
E2f5	G	T	3: 14,653,311 (GRCm39)	L142F	probably benign	Het
Egflam	G	T	15: 7,241,656 (GRCm39)	N917K	probably damaging	Het
Ercc6l2	C	T	13: 63,989,936 (GRCm39)	R254C	probably damaging	Het
Erh	G	A	12: 80,689,571 (GRCm39)	P18S	probably benign	Het
Fam110b	T	C	4: 5,799,064 (GRCm39)	S161P	probably damaging	Het
Fam210a	TAAAATGTTCCAAA	TAAA	18: 68,408,848 (GRCm39)		probably null	Het
Fbn1	T	C	2: 125,180,458 (GRCm39)	I1775V	probably damaging	Het
Fry	C	A	5: 150,389,781 (GRCm39)	Q137K		Het
Gm4787	A	T	12: 81,426,074 (GRCm39)	L28*	probably null	Het
Gpr179	A	G	11: 97,235,029 (GRCm39)	F434L	probably damaging	Het
Grik2	T	C	10: 49,404,105 (GRCm39)	Y252C	probably damaging	Het
H1f0	C	T	15: 78,912,947 (GRCm39)	P9L	probably damaging	Het
Hectd4	A	G	5: 121,459,617 (GRCm39)	T829A	possibly damaging	Het
Ing4	A	G	6: 125,025,354 (GRCm39)	E245G	probably benign	Het
Lgr4	C	T	2: 109,827,084 (GRCm39)	A196V	probably damaging	Het
Lrrc51	T	A	7: 101,562,329 (GRCm39)	K176N	probably benign	Het
Lrrc9	T	A	12: 72,532,981 (GRCm39)	M950K	probably benign	Het
Lrrd1	A	T	5: 3,901,432 (GRCm39)	D579V	probably damaging	Het
Magi3	C	T	3: 103,922,473 (GRCm39)	A1415T	probably benign	Het
Magi3	A	C	3: 103,924,933 (GRCm39)	I1072S	probably damaging	Het
Mast1	G	A	8: 85,657,474 (GRCm39)	T101I	probably damaging	Het
Mccc1	A	T	3: 36,049,976 (GRCm39)	V72E	probably damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Megf8	A	T	7: 25,058,511 (GRCm39)	Q2169L	possibly damaging	Het
Mllt6	A	G	11: 97,564,310 (GRCm39)	D342G	probably benign	Het
Mycbp2	T	A	14: 103,372,697 (GRCm39)	T4050S	probably benign	Het
Nbeal1	A	G	1: 60,274,509 (GRCm39)	T307A	probably benign	Het
Or11g27	A	G	14: 50,771,552 (GRCm39)	T228A	probably benign	Het
Plat	T	C	8: 23,262,669 (GRCm39)	F125L	probably benign	Het
Ppm1b	T	A	17: 85,301,501 (GRCm39)	M127K	probably benign	Het
Ppp4r1	C	A	17: 66,110,258 (GRCm39)	D52E	probably benign	Het
Rasgrp3	T	G	17: 75,807,139 (GRCm39)	I201S	probably damaging	Het
Rfpl4b	T	A	10: 38,696,870 (GRCm39)	M244L	probably benign	Het
Rhbdl3	A	T	11: 80,244,277 (GRCm39)	H328L	probably benign	Het
Rsad2	T	A	12: 26,495,521 (GRCm39)	I325F	probably damaging	Het
Shank2	T	C	7: 143,963,847 (GRCm39)	V485A	probably benign	Het
Slc6a5	A	G	7: 49,561,474 (GRCm39)	N2S	probably benign	Het
Sox4	G	T	13: 29,136,913 (GRCm39)	A31E	probably damaging	Het
Suv39h2	A	T	2: 3,475,451 (GRCm39)	C2S		Het
Tet2	A	G	3: 133,191,566 (GRCm39)	I956T	probably benign	Het
Topaz1	A	G	9: 122,578,530 (GRCm39)	D480G	possibly damaging	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Ugt1a6b	G	T	1: 88,034,820 (GRCm39)	G53*	probably null	Het
Vmn1r173	T	C	7: 23,402,209 (GRCm39)	V148A	probably damaging	Het
Vnn1	G	A	10: 23,776,723 (GRCm39)	C358Y	probably damaging	Het
Wdr89	A	G	12: 75,679,666 (GRCm39)	V196A	probably damaging	Het
Wfdc6a	T	A	2: 164,425,758 (GRCm39)	D71V	possibly damaging	Het
Zc3h3	T	C	15: 75,711,145 (GRCm39)	K439E	probably damaging	Het
Zfp367	T	C	13: 64,300,586 (GRCm39)	H73R	probably damaging	Het
Zfp955a	G	A	17: 33,461,107 (GRCm39)	R342*	probably null	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
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
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'- TGGAGCCCACATTTGTGTAATTC -3'
(R):5'- AAGTGTTCAACATTCCCTCCTG -3'

Sequencing Primer
(F):5'- GAGCCCACATTTGTGTAATTCTTGTC -3'
(R):5'- TCAAGACTGACTATCCATCTATAGC -3'

Posted On

2022-08-09