Mutagenetix > Incidental Mutation

Incidental Mutation 'R4241:Or52e19'

320215

Institutional Source

Beutler Lab

Gene Symbol

Or52e19

Ensembl Gene

ENSMUSG00000073953

Gene Name

olfactory receptor family 52 subfamily E member 19

Synonyms

Gm15117, ENSMUSG00000073953, Olfr596-ps1, Olfr596, GA_x6K02T2PBJ9-6019769-6019943

MMRRC Submission

041058-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R4241 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102958930-102959868 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

G to T at 102959868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tyrosine at position 313 (*313Y)

Ref Sequence

ENSEMBL: ENSMUSP00000149187 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000104880] [ENSMUST00000214577]

AlphaFold

F8VQ26

Predicted Effect

probably null
Transcript: ENSMUST00000104880
AA Change: *313Y

SMART Domains

Protein: ENSMUSP00000100475
Gene: ENSMUSG00000073953
AA Change: *313Y

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	1.5e-121	PFAM
Pfam:7TM_GPCR_Srsx	37	210	5.1e-11	PFAM
Pfam:7tm_1	43	293	1.6e-15	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000214577
AA Change: *313Y

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	T	3: 116,548,497 (GRCm39)		probably benign	Het
Ap5b1	C	T	19: 5,618,825 (GRCm39)	L82F	possibly damaging	Het
Arfgef3	A	G	10: 18,500,912 (GRCm39)	S1113P	probably damaging	Het
Atoh1	A	C	6: 64,706,758 (GRCm39)	N151T	probably damaging	Het
Bcas3	T	A	11: 85,361,652 (GRCm39)	S25R	probably damaging	Het
Blcap	T	A	2: 157,402,343 (GRCm39)		probably benign	Het
Btbd6	C	T	12: 112,940,416 (GRCm39)	A13V	probably benign	Het
Ccdc83	A	C	7: 89,896,346 (GRCm39)	N74K	probably damaging	Het
Cdh9	A	G	15: 16,849,165 (GRCm39)		probably null	Het
Chd1	C	T	17: 15,990,289 (GRCm39)	R1614*	probably null	Het
Col16a1	G	T	4: 129,992,843 (GRCm39)	Q1567H	probably damaging	Het
Coq6	A	T	12: 84,420,563 (GRCm39)		probably benign	Het
Cpd	T	C	11: 76,737,611 (GRCm39)	D61G	probably benign	Het
Csnk1e	A	G	15: 79,309,095 (GRCm39)	F277S	probably damaging	Het
Cyp2d41-ps	T	A	15: 82,663,787 (GRCm39)		noncoding transcript	Het
Dbt	T	C	3: 116,326,945 (GRCm39)	I98T	probably damaging	Het
Eif3e	G	A	15: 43,126,086 (GRCm39)	T287I	probably damaging	Het
Fcgbpl1	A	G	7: 27,853,760 (GRCm39)	S1575G	probably damaging	Het
Gm7135	A	G	1: 97,281,678 (GRCm39)		noncoding transcript	Het
Gpr176	A	T	2: 118,110,091 (GRCm39)	S389R	probably benign	Het
Hax1	A	G	3: 89,902,997 (GRCm39)	S257P	probably damaging	Het
Herc1	CTGAGGACTCTTTG	CTG	9: 66,355,630 (GRCm39)		probably null	Het
Ighv1-53	C	T	12: 115,122,442 (GRCm39)	C5Y	probably benign	Het
Klhl13	T	A	X: 23,181,414 (GRCm39)	D2V	probably damaging	Het
Kynu	A	T	2: 43,571,422 (GRCm39)	H446L	probably benign	Het
Lingo1	A	G	9: 56,527,386 (GRCm39)	F401S	probably damaging	Het
Lmbrd1	C	T	1: 24,732,049 (GRCm39)	Q89*	probably null	Het
Mov10	T	A	3: 104,704,592 (GRCm39)	Q773L	probably benign	Het
Or7c70	T	A	10: 78,683,739 (GRCm39)	R3S	probably benign	Het
Pde6c	G	A	19: 38,151,293 (GRCm39)	G608S	probably damaging	Het
Peli3	T	C	19: 4,982,426 (GRCm39)	H413R	probably damaging	Het
Pkdrej	C	T	15: 85,702,345 (GRCm39)	R1197Q	probably damaging	Het
Rcan2	T	A	17: 44,264,370 (GRCm39)	V10D	probably benign	Het
Slc10a5	A	G	3: 10,400,520 (GRCm39)	S47P	probably damaging	Het
Sprr3	A	G	3: 92,364,214 (GRCm39)	V210A	possibly damaging	Het
Tcerg1l	G	T	7: 137,999,361 (GRCm39)	Q8K	unknown	Het
Ubfd1	T	C	7: 121,670,977 (GRCm39)	V265A	possibly damaging	Het
Ubr1	T	C	2: 120,764,867 (GRCm39)	D529G	possibly damaging	Het
Vmn1r180	A	T	7: 23,652,298 (GRCm39)	I154F	probably damaging	Het
Vmn1r237	A	G	17: 21,534,925 (GRCm39)	H216R	possibly damaging	Het
Whrn	C	T	4: 63,351,210 (GRCm39)		probably benign	Het
Zfr	T	G	15: 12,149,745 (GRCm39)	D388E	probably damaging	Het
Zic5	T	C	14: 122,702,075 (GRCm39)	I219V	probably benign	Het
Zmat5	A	G	11: 4,678,614 (GRCm39)	N53D	probably benign	Het

Other mutations in Or52e19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00814:Or52e19	APN	7	102,959,014 (GRCm39)	missense	probably benign	0.03
IGL01917:Or52e19	APN	7	102,959,564 (GRCm39)	nonsense	probably null
G1patch:Or52e19	UTSW	7	102,959,561 (GRCm39)	missense	probably damaging	1.00
R0601:Or52e19	UTSW	7	102,959,371 (GRCm39)	missense	probably damaging	1.00
R0908:Or52e19	UTSW	7	102,959,780 (GRCm39)	missense	possibly damaging	0.56
R1762:Or52e19	UTSW	7	102,959,428 (GRCm39)	missense	probably damaging	1.00
R1772:Or52e19	UTSW	7	102,959,449 (GRCm39)	missense	possibly damaging	0.94
R1806:Or52e19	UTSW	7	102,959,432 (GRCm39)	missense	probably damaging	1.00
R2035:Or52e19	UTSW	7	102,959,463 (GRCm39)	missense	probably damaging	1.00
R2365:Or52e19	UTSW	7	102,959,380 (GRCm39)	missense	probably benign	0.00
R3827:Or52e19	UTSW	7	102,959,009 (GRCm39)	missense	probably benign	0.12
R4619:Or52e19	UTSW	7	102,959,165 (GRCm39)	missense	probably benign	0.04
R4620:Or52e19	UTSW	7	102,959,165 (GRCm39)	missense	probably benign	0.04
R6279:Or52e19	UTSW	7	102,959,636 (GRCm39)	missense	probably benign
R6300:Or52e19	UTSW	7	102,959,636 (GRCm39)	missense	probably benign
R6505:Or52e19	UTSW	7	102,959,000 (GRCm39)	missense	probably benign	0.00
R6725:Or52e19	UTSW	7	102,959,561 (GRCm39)	missense	probably damaging	1.00
R7175:Or52e19	UTSW	7	102,959,054 (GRCm39)	missense	probably benign	0.22
R7708:Or52e19	UTSW	7	102,959,768 (GRCm39)	missense	probably damaging	1.00
R8855:Or52e19	UTSW	7	102,959,168 (GRCm39)	missense	probably damaging	1.00
R9035:Or52e19	UTSW	7	102,959,186 (GRCm39)	missense	probably damaging	1.00
R9162:Or52e19	UTSW	7	102,958,927 (GRCm39)	start gained	probably benign
R9489:Or52e19	UTSW	7	102,959,452 (GRCm39)	missense	probably benign	0.00
R9799:Or52e19	UTSW	7	102,959,065 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATGTGGTTCCCATGTCTGTG -3'
(R):5'- GATATCCACTTAGAGGCCTGC -3'

Sequencing Primer
(F):5'- GTCATCTTAGCCTTTTACACACCAG -3'
(R):5'- TCAGGAGAGGAGAAACTGGGGTC -3'

Posted On

2015-06-12