Mutagenetix > Incidental Mutation

Incidental Mutation 'R5782:Or52e5'

447804

Institutional Source

Beutler Lab

Gene Symbol

Or52e5

Ensembl Gene

ENSMUSG00000073913

Gene Name

olfactory receptor family 52 subfamily E member 5

Synonyms

MOR32-5, GA_x6K02T2PBJ9-7698491-7699432, Olfr678

MMRRC Submission

043379-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R5782 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104718676-104719617 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104718956 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 94 (I94T)

Ref Sequence

ENSEMBL: ENSMUSP00000150213 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098160] [ENSMUST00000213622]

AlphaFold

Q8VG26

Predicted Effect

probably damaging
Transcript: ENSMUST00000098160
AA Change: I94T

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

SMART Domains

Protein: ENSMUSP00000095763
Gene: ENSMUSG00000073913
AA Change: I94T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	2.2e-115	PFAM
Pfam:7TM_GPCR_Srsx	37	212	2.8e-6	PFAM
Pfam:7tm_1	43	293	8e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213622
AA Change: I94T

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl9	A	T	17: 33,652,735 (GRCm39)	Q265L	probably benign	Het
Adamtsl3	T	A	7: 82,189,494 (GRCm39)		probably null	Het
Agt	A	T	8: 125,283,870 (GRCm39)		probably null	Het
Ankrd11	A	G	8: 123,626,756 (GRCm39)	L142P	probably damaging	Het
Arhgef19	C	A	4: 140,983,623 (GRCm39)	Q719K	probably damaging	Het
Armh3	A	G	19: 45,874,466 (GRCm39)	V569A	probably benign	Het
Atrnl1	G	T	19: 57,741,718 (GRCm39)	W1159L	possibly damaging	Het
Atxn2	T	C	5: 121,935,373 (GRCm39)	Y325H	probably damaging	Het
Brwd1	A	T	16: 95,844,243 (GRCm39)	Y770*	probably null	Het
Cdc20	T	C	4: 118,290,239 (GRCm39)	E474G	probably benign	Het
Cdk5rap3	A	G	11: 96,802,412 (GRCm39)	L254P	probably benign	Het
Cep83	A	T	10: 94,584,894 (GRCm39)	N333I	probably damaging	Het
Cox4i2	A	C	2: 152,606,731 (GRCm39)	D150A	probably damaging	Het
Cse1l	A	G	2: 166,770,921 (GRCm39)	I314M	probably damaging	Het
Cuedc1	A	G	11: 88,060,858 (GRCm39)	Y67C	probably damaging	Het
Cyp2j9	C	T	4: 96,462,142 (GRCm39)	V380I	probably benign	Het
Fancd2	A	G	6: 113,525,833 (GRCm39)	N302S	probably benign	Het
Foxa1	T	A	12: 57,589,302 (GRCm39)	H306L	probably benign	Het
Gse1	T	C	8: 121,293,260 (GRCm39)	S204P	probably damaging	Het
Hspa13	C	A	16: 75,554,985 (GRCm39)	R367L	probably damaging	Het
Kcnk2	T	G	1: 188,988,776 (GRCm39)	D267A	probably damaging	Het
Kctd18	A	G	1: 57,998,396 (GRCm39)	Y68H	probably damaging	Het
Khdc4	T	G	3: 88,618,985 (GRCm39)	V563G	probably damaging	Het
Klf7	C	T	1: 64,081,570 (GRCm39)	E253K	possibly damaging	Het
Lcn12	A	T	2: 25,383,769 (GRCm39)	F34I	probably damaging	Het
Lrrk2	A	T	15: 91,586,386 (GRCm39)	R401W	probably damaging	Het
Lzts1	A	T	8: 69,593,350 (GRCm39)	S86T	probably benign	Het
Mtres1	T	C	10: 43,408,899 (GRCm39)	I81M	probably benign	Het
Mtus1	T	A	8: 41,535,764 (GRCm39)	I651F	probably damaging	Het
Myl2	T	A	5: 122,242,933 (GRCm39)	F106L	probably damaging	Het
Neb	T	A	2: 52,154,059 (GRCm39)	K2351*	probably null	Het
Or14c45	T	A	7: 86,176,421 (GRCm39)	I152N	probably damaging	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Parg	A	T	14: 31,996,862 (GRCm39)	R318*	probably null	Het
Pcdhga3	C	T	18: 37,809,353 (GRCm39)	S602F	possibly damaging	Het
Pcnx2	A	G	8: 126,480,223 (GRCm39)	V2028A	probably damaging	Het
Pkhd1	T	C	1: 20,128,824 (GRCm39)	T3960A	probably benign	Het
Psen1	T	A	12: 83,759,233 (GRCm39)	H81Q	possibly damaging	Het
Psma6	A	G	12: 55,457,041 (GRCm39)	N109S	possibly damaging	Het
Ptpro	A	T	6: 137,376,496 (GRCm39)	I659F	possibly damaging	Het
Rap1gds1	C	G	3: 138,664,840 (GRCm39)	E288D	possibly damaging	Het
Reln	C	T	5: 22,223,054 (GRCm39)	R993K	probably benign	Het
Saxo1	T	A	4: 86,364,044 (GRCm39)	L146F	probably damaging	Het
Six4	A	G	12: 73,150,832 (GRCm39)	V571A	probably benign	Het
Slc2a10	C	A	2: 165,356,758 (GRCm39)	Y139*	probably null	Het
Slc34a1	A	G	13: 55,550,501 (GRCm39)	I66V	possibly damaging	Het
Slfn8	G	T	11: 82,907,867 (GRCm39)	N46K	probably damaging	Het
Smc6	G	C	12: 11,340,835 (GRCm39)	A496P	probably damaging	Het
Stk31	T	G	6: 49,446,070 (GRCm39)	N902K	probably benign	Het
Stk36	T	A	1: 74,644,584 (GRCm39)	Y114N	possibly damaging	Het
Sult2b1	C	T	7: 45,380,770 (GRCm39)	V271M	probably damaging	Het
Tenm4	A	G	7: 96,542,246 (GRCm39)	I1920V	probably benign	Het
Trbc2	A	G	6: 41,523,871 (GRCm39)		probably benign	Het
Trpc2	A	G	7: 101,733,186 (GRCm39)	D419G	possibly damaging	Het
Trpm7	T	C	2: 126,639,634 (GRCm39)	N1654S	probably benign	Het
Tsku	A	T	7: 98,002,057 (GRCm39)	D91E	probably damaging	Het
Ttn	T	A	2: 76,606,355 (GRCm39)	R18151S	probably damaging	Het
Tyr	C	T	7: 87,142,224 (GRCm39)	C112Y	probably damaging	Het
Ubash3a	G	A	17: 31,454,477 (GRCm39)	G435S	probably benign	Het
Vav1	T	C	17: 57,603,001 (GRCm39)	I51T	probably damaging	Het
Vmn2r61	T	A	7: 41,949,253 (GRCm39)	C558S	probably damaging	Het
Zan	C	T	5: 137,418,269 (GRCm39)	C2943Y	unknown	Het
Zfp1002	T	C	2: 150,097,438 (GRCm39)	E25G	probably benign	Het
Zfp267	T	C	3: 36,219,128 (GRCm39)	S384P	possibly damaging	Het
Zfp318	TGAAGAAGAAGAAGAAGAAGAAGAAGAAG	TGAAGAAGAAGAAGAAGAAGAAG	17: 46,723,440 (GRCm39)		probably benign	Het
Zfp575	C	A	7: 24,285,027 (GRCm39)	G205C	possibly damaging	Het
Zfp740	G	T	15: 102,116,801 (GRCm39)		probably benign	Het
Zzz3	A	G	3: 152,133,737 (GRCm39)	E265G	possibly damaging	Het

Other mutations in Or52e5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01125:Or52e5	APN	7	104,718,808 (GRCm39)	missense	probably benign	0.44
IGL01469:Or52e5	APN	7	104,719,595 (GRCm39)	missense	probably benign	0.05
IGL01726:Or52e5	APN	7	104,718,836 (GRCm39)	missense	probably damaging	1.00
IGL03263:Or52e5	APN	7	104,719,209 (GRCm39)	missense	probably damaging	1.00
R1423:Or52e5	UTSW	7	104,719,226 (GRCm39)	missense	probably damaging	1.00
R2181:Or52e5	UTSW	7	104,719,418 (GRCm39)	missense	possibly damaging	0.88
R4594:Or52e5	UTSW	7	104,718,797 (GRCm39)	missense	probably benign	0.00
R5376:Or52e5	UTSW	7	104,719,564 (GRCm39)	missense	probably damaging	1.00
R5847:Or52e5	UTSW	7	104,719,064 (GRCm39)	missense	probably benign	0.01
R6418:Or52e5	UTSW	7	104,719,514 (GRCm39)	missense	probably damaging	1.00
R6664:Or52e5	UTSW	7	104,719,395 (GRCm39)	missense	possibly damaging	0.64
R7593:Or52e5	UTSW	7	104,718,704 (GRCm39)	missense	probably benign	0.27
R8813:Or52e5	UTSW	7	104,719,518 (GRCm39)	nonsense	probably null
R8841:Or52e5	UTSW	7	104,719,479 (GRCm39)	missense	possibly damaging	0.69
R8933:Or52e5	UTSW	7	104,718,599 (GRCm39)	start gained	probably benign
R9485:Or52e5	UTSW	7	104,718,703 (GRCm39)	missense	possibly damaging	0.60
R9696:Or52e5	UTSW	7	104,719,283 (GRCm39)	missense	probably damaging	0.98
RF015:Or52e5	UTSW	7	104,719,255 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTGTGGATTGGCTTTCCC -3'
(R):5'- TGGAGTCACAAATATCAAAGTCCTG -3'

Sequencing Primer
(F):5'- CCCTTCTTTGCAGTGTATTTAATAGC -3'
(R):5'- GTCCTGACTATGATGATTATACCCAG -3'

Posted On

2016-12-15