Mutagenetix > Incidental Mutations

Incidental Mutation 'R4028:Cyp2j5'

313079

Institutional Source

Beutler Lab

Gene Symbol

Cyp2j5

Ensembl Gene

ENSMUSG00000052520

Gene Name

cytochrome P450, family 2, subfamily j, polypeptide 5

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R4028 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96628773-96664154 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 96641416 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 239 (Y239*)

Ref Sequence

ENSEMBL: ENSMUSP00000030299 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030299]

Predicted Effect

probably null
Transcript: ENSMUST00000030299
AA Change: Y239*

SMART Domains

Protein: ENSMUSP00000030299
Gene: ENSMUSG00000052520
AA Change: Y239*

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:p450	44	497	2.3e-140	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Female mice homozygous for a null mutation display increased systolic blood pressure, increased left ventricular weight, decreased litter sizes, decreased serum estrogen levels, and increased induced vasoconstriction responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	A	T	7: 133,929,996	N503K	probably damaging	Het
Anapc2	T	A	2: 25,277,738	I439N	probably damaging	Het
Ank	A	G	15: 27,544,257	N35D	probably damaging	Het
Birc2	T	C	9: 7,819,351	N520S	probably benign	Het
C030005K15Rik	T	C	10: 97,725,542	Y109C	unknown	Het
Chrna5	T	C	9: 54,998,086	W61R	probably damaging	Het
Clec1b	G	A	6: 129,401,811	R87H	probably benign	Het
Cox7a2l	A	G	17: 83,502,640	I123T	probably benign	Het
Dnajc6	G	A	4: 101,616,857	C485Y	probably damaging	Het
Dync1i1	C	T	6: 5,961,842	S341F	probably damaging	Het
Fam159a	G	T	4: 108,383,215	C43*	probably null	Het
Fbln1	A	G	15: 85,227,116	N157S	probably benign	Het
Gm13101	T	A	4: 143,965,784	T216S	probably benign	Het
Gpatch2	A	G	1: 187,226,140	S231G	possibly damaging	Het
Grin2b	T	C	6: 135,736,435	D816G	probably damaging	Het
Kndc1	T	A	7: 139,930,028	F1261Y	probably damaging	Het
Lefty1	T	C	1: 180,937,781	S305P	probably benign	Het
Ltbp3	G	A	19: 5,754,022	R854Q	probably benign	Het
Mrc1	T	C	2: 14,238,248	S62P	probably damaging	Het
Ntrk3	T	C	7: 78,192,710	E790G	probably damaging	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfr1264	T	C	2: 90,021,223	N281S	probably damaging	Het
Olfr552	A	T	7: 102,605,293	D313V	possibly damaging	Het
Oog4	A	T	4: 143,440,200	N11K	probably benign	Het
Pibf1	A	G	14: 99,179,341	E450G	probably damaging	Het
Pkd1l3	T	A	8: 109,623,971	S483T	possibly damaging	Het
Pkdrej	A	T	15: 85,817,492	N1414K	probably benign	Het
Pld2	A	G	11: 70,554,905	N655S	probably damaging	Het
Rcn1	G	T	2: 105,399,050	Y52*	probably null	Het
Reck	T	C	4: 43,922,931	I402T	probably damaging	Het
Slc28a3	T	C	13: 58,610,756	S18G	probably benign	Het
Slc7a1	C	A	5: 148,345,812	C75F	probably benign	Het
Snrnp200	A	G	2: 127,237,566	D1865G	probably damaging	Het
Tnrc6a	T	A	7: 123,170,121	I378N	probably damaging	Het
Trim3	A	G	7: 105,618,245	V309A	probably benign	Het
Tshz1	T	C	18: 84,014,829	K485E	possibly damaging	Het
Wrb	T	C	16: 96,145,584		probably null	Het
Zdhhc11	T	C	13: 73,977,271	L210P	probably damaging	Het

Other mutations in Cyp2j5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Cyp2j5	APN	4	96630775	missense	probably damaging	1.00
IGL00670:Cyp2j5	APN	4	96634275	missense	probably benign	0.05
IGL00824:Cyp2j5	APN	4	96663923	missense	probably benign
IGL01450:Cyp2j5	APN	4	96658690	missense	probably damaging	0.99
IGL01621:Cyp2j5	APN	4	96629554	missense	probably benign
IGL02639:Cyp2j5	APN	4	96658749	missense	probably benign	0.12
IGL03024:Cyp2j5	APN	4	96629523	missense	probably benign	0.03
IGL03212:Cyp2j5	APN	4	96663818	missense	probably damaging	0.97
aesculapius	UTSW	4	96659612	missense	possibly damaging	0.95
Kaduceus	UTSW	4	96635815	missense	probably benign	0.02
R0112:Cyp2j5	UTSW	4	96629523	missense	probably benign	0.03
R0626:Cyp2j5	UTSW	4	96659512	missense	probably benign	0.01
R1387:Cyp2j5	UTSW	4	96634285	missense	probably damaging	1.00
R1638:Cyp2j5	UTSW	4	96635815	missense	probably benign	0.02
R1857:Cyp2j5	UTSW	4	96659486	missense	possibly damaging	0.88
R1920:Cyp2j5	UTSW	4	96663254	missense	probably damaging	1.00
R2149:Cyp2j5	UTSW	4	96641340	missense	possibly damaging	0.95
R2213:Cyp2j5	UTSW	4	96659615	missense	probably benign	0.09
R4895:Cyp2j5	UTSW	4	96663110	critical splice donor site	probably null
R5132:Cyp2j5	UTSW	4	96629496	missense	probably damaging	1.00
R5149:Cyp2j5	UTSW	4	96659507	missense	probably damaging	1.00
R5666:Cyp2j5	UTSW	4	96658693	missense	probably benign	0.00
R6676:Cyp2j5	UTSW	4	96635808	missense	possibly damaging	0.57
R7328:Cyp2j5	UTSW	4	96663213	missense	probably damaging	0.99
R7853:Cyp2j5	UTSW	4	96641419	missense	probably benign	0.06
R7943:Cyp2j5	UTSW	4	96659612	missense	possibly damaging	0.95
R8016:Cyp2j5	UTSW	4	96658714	missense	probably damaging	1.00
R8052:Cyp2j5	UTSW	4	96664004	missense	probably benign
R8064:Cyp2j5	UTSW	4	96658711	missense	probably damaging	1.00
Z1176:Cyp2j5	UTSW	4	96629506	missense	probably damaging	1.00
Z1177:Cyp2j5	UTSW	4	96659480	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCCAACGTTTCTGTAAGAAGATG -3'
(R):5'- TGGCATGTACAAGGGAACAATC -3'

Sequencing Primer
(F):5'- CGTTTCTGTAAGAAGATGATACAGG -3'
(R):5'- AGGGATTGGTGACTCAGTATATTTTC -3'

Posted On

2015-04-30