Mutagenetix > Incidental Mutation

Incidental Mutation 'R4757:Or52d3'

358242

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

041973-MU

Accession Numbers

Essential gene?

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

Stock #

R4757 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104228831-104229876 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104229404 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 184 (Y184H)

Ref Sequence

ENSEMBL: ENSMUSP00000149192 (fasta)

Gene Model

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

AlphaFold

E9PVA0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098174
AA Change: Y184H

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095776
Gene: ENSMUSG00000073926
AA Change: Y184H

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

possibly damaging
Transcript: ENSMUST00000215585
AA Change: Y184H

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217466
AA Change: Y184H

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	T	9: 53,336,830 (GRCm39)	M45L	probably benign	Het
Abcb1a	T	A	5: 8,787,632 (GRCm39)	V978D	probably damaging	Het
Acsm4	T	C	7: 119,297,900 (GRCm39)	V179A	probably benign	Het
Agtr1a	C	A	13: 30,565,842 (GRCm39)	Y302*	probably null	Het
Akap9	T	C	5: 4,058,382 (GRCm39)	I1677T	probably damaging	Het
Ankk1	T	A	9: 49,327,230 (GRCm39)	M650L	probably benign	Het
Apod	T	A	16: 31,122,280 (GRCm39)	N65Y	probably damaging	Het
Bcl2l1	T	A	2: 152,624,178 (GRCm39)	N197Y	possibly damaging	Het
Brpf1	A	T	6: 113,292,072 (GRCm39)	I373F	probably damaging	Het
Car13	T	C	3: 14,726,615 (GRCm39)	V257A	probably damaging	Het
Ccdc150	A	T	1: 54,317,874 (GRCm39)	H271L	possibly damaging	Het
Cit	T	A	5: 116,135,608 (GRCm39)	I1836N	probably damaging	Het
Clec12b	A	G	6: 129,357,655 (GRCm39)	S68P	probably damaging	Het
Col4a4	A	G	1: 82,506,187 (GRCm39)	F298L	unknown	Het
Crct1	G	A	3: 92,922,093 (GRCm39)	Q15*	probably null	Het
Creld1	A	G	6: 113,469,208 (GRCm39)	E346G	probably benign	Het
Ctnnal1	T	A	4: 56,847,980 (GRCm39)	H53L	probably damaging	Het
Cyb5d1	T	C	11: 69,285,814 (GRCm39)	D74G	probably damaging	Het
Deptor	A	T	15: 55,075,674 (GRCm39)	S293C	probably damaging	Het
Dnajb12	A	G	10: 59,728,592 (GRCm39)	S187G	probably benign	Het
Duoxa2	G	T	2: 122,131,072 (GRCm39)	V78L	possibly damaging	Het
Fem1al	A	T	11: 29,775,454 (GRCm39)	M1K	probably null	Het
Fhod1	C	A	8: 106,074,443 (GRCm39)		probably benign	Het
Foxf2	C	T	13: 31,810,172 (GRCm39)	P37L	unknown	Het
Gabbr2	T	C	4: 46,875,675 (GRCm39)	N149S	probably damaging	Het
Gckr	G	T	5: 31,464,728 (GRCm39)	M344I	possibly damaging	Het
Herc6	G	A	6: 57,577,045 (GRCm39)		probably null	Het
Igf1	A	T	10: 87,751,287 (GRCm39)	E161V	probably benign	Het
Ighv8-13	T	A	12: 115,729,268 (GRCm39)		probably benign	Het
Igkv6-14	A	T	6: 70,412,426 (GRCm39)	L12*	probably null	Het
Kpnb1	C	T	11: 97,068,160 (GRCm39)	S270N	possibly damaging	Het
Lingo1	A	G	9: 56,527,209 (GRCm39)	V460A	probably benign	Het
Lsm6	T	C	8: 79,539,711 (GRCm39)		probably null	Het
Mccc1	C	T	3: 36,050,066 (GRCm39)	G42E	probably benign	Het
Mga	A	G	2: 119,734,120 (GRCm39)	K323E	possibly damaging	Het
Mks1	A	G	11: 87,753,850 (GRCm39)	*562W	probably null	Het
Mrgpra4	T	A	7: 47,630,686 (GRCm39)	E305V	probably damaging	Het
Msh4	T	A	3: 153,585,024 (GRCm39)	H360L	probably damaging	Het
Mthfsd	C	T	8: 121,825,737 (GRCm39)		probably null	Het
Myl12a	A	T	17: 71,303,798 (GRCm39)	F26L	possibly damaging	Het
Nedd4l	A	G	18: 65,298,676 (GRCm39)	S343G	probably damaging	Het
Nlgn1	T	A	3: 25,490,332 (GRCm39)	D465V	probably damaging	Het
Nlgn1	C	T	3: 25,490,507 (GRCm39)	V407I	possibly damaging	Het
Npsr1	T	C	9: 24,046,064 (GRCm39)	V61A	probably benign	Het
Nrxn2	A	G	19: 6,559,851 (GRCm39)	D160G	probably damaging	Het
Or2p2	T	C	13: 21,256,715 (GRCm39)	Y252C	probably damaging	Het
Or5b107	A	C	19: 13,143,277 (GRCm39)	S300R	probably benign	Het
Or5b113	G	T	19: 13,342,810 (GRCm39)	A273S	probably benign	Het
Or9g4	A	G	2: 85,504,664 (GRCm39)	F277S	probably damaging	Het
Pbx1	C	A	1: 168,023,450 (GRCm39)	R235L	probably damaging	Het
Pcnx4	T	C	12: 72,603,067 (GRCm39)	V443A	probably benign	Het
Pde7b	T	C	10: 20,423,688 (GRCm39)	T63A	probably benign	Het
Phf3	C	T	1: 30,859,908 (GRCm39)	G873D	probably damaging	Het
Phox2b	A	T	5: 67,256,197 (GRCm39)	Y30N	probably damaging	Het
Plch2	T	A	4: 155,080,690 (GRCm39)	I599F	possibly damaging	Het
Plekha8	A	G	6: 54,599,213 (GRCm39)	E249G	probably benign	Het
Pou2af1	T	A	9: 51,144,439 (GRCm39)	Y118N	possibly damaging	Het
Ppp3cc	T	A	14: 70,455,635 (GRCm39)	K489N	possibly damaging	Het
Sema4b	T	C	7: 79,866,577 (GRCm39)	L219P	probably damaging	Het
Slc6a5	T	G	7: 49,609,030 (GRCm39)	V745G	probably benign	Het
Slf2	A	G	19: 44,923,497 (GRCm39)	M104V	probably benign	Het
Slx1b	A	G	7: 126,291,701 (GRCm39)	V121A	probably benign	Het
Speer4e2	T	A	5: 15,026,222 (GRCm39)	H145L	probably benign	Het
Spen	T	A	4: 141,200,390 (GRCm39)	K2746*	probably null	Het
Stxbp5l	T	C	16: 37,008,996 (GRCm39)	Y681C	probably damaging	Het
Sv2b	T	C	7: 74,773,918 (GRCm39)	T518A	probably benign	Het
Tgm7	A	T	2: 120,926,870 (GRCm39)	H426Q	possibly damaging	Het
Tlx2	A	G	6: 83,046,900 (GRCm39)	F54S	probably benign	Het
Trp53bp2	A	T	1: 182,286,339 (GRCm39)	M1060L	probably benign	Het
Trpv5	T	A	6: 41,630,148 (GRCm39)	E647D	probably damaging	Het
Tut1	G	T	19: 8,936,672 (GRCm39)	K165N	possibly damaging	Het
Tyro3	A	G	2: 119,641,419 (GRCm39)	K543E	probably damaging	Het
Vmn2r69	T	A	7: 85,061,575 (GRCm39)	Y133F	probably damaging	Het
Zfhx4	T	A	3: 5,465,122 (GRCm39)	V1785D	possibly damaging	Het
Zfp451	A	G	1: 33,804,939 (GRCm39)	L1037P	probably damaging	Het
Zscan29	A	T	2: 120,991,392 (GRCm39)	F799I	possibly 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
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
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'- CTTTGCCACAGAGTCAGCTG -3'
(R):5'- ATGTGCTGAATGCTCGGAAC -3'

Sequencing Primer
(F):5'- ACAGAGTCAGCTGTTCTGC -3'
(R):5'- CTCGGAACTGGGCATCCTTTG -3'

Posted On

2015-11-11