Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02639:Cyp2j5'

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301666

Institutional Source

Australian Phenomics Network (link to record)

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: 0.054) question?

Stock #

IGL02639

Quality Score

Status

Chromosome

Chromosomal Location

96628773-96664154 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 96658749 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 176 (Q176L)

Ref Sequence

ENSEMBL: ENSMUSP00000030299 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000030299
AA Change: Q176L

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000030299
Gene: ENSMUSG00000052520
AA Change: Q176L

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

Coding Region Coverage

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	C	T	15: 37,429,804	R71*	probably null	Het
Abca5	A	T	11: 110,288,073	I1140N	possibly damaging	Het
Atp6v0a1	T	A	11: 101,055,518	I773N	possibly damaging	Het
Atp9a	A	G	2: 168,649,620	M675T	probably damaging	Het
Baz1a	A	G	12: 54,896,025		probably benign	Het
Cd5l	T	C	3: 87,368,506	V261A	probably damaging	Het
Copb1	A	G	7: 114,226,595		probably benign	Het
Cul5	T	C	9: 53,655,342	D130G	possibly damaging	Het
D430042O09Rik	A	G	7: 125,872,792	I1518V	probably damaging	Het
Ddo	A	G	10: 40,647,737	D241G	probably damaging	Het
Defa29	A	G	8: 21,326,121	C77R	possibly damaging	Het
Dpp4	T	C	2: 62,352,240	N566D	probably benign	Het
Emilin2	T	C	17: 71,274,549	D394G	probably benign	Het
Fbf1	T	C	11: 116,152,600	E461G	probably benign	Het
Fgfr2	A	G	7: 130,228,802		probably benign	Het
Fibcd1	G	A	2: 31,817,150	T365M	probably damaging	Het
Fndc3a	A	C	14: 72,574,357	H344Q	probably benign	Het
Fnip1	T	A	11: 54,475,640	C52*	probably null	Het
Fto	T	A	8: 91,409,528	N143K	probably damaging	Het
Gm2035	G	T	12: 87,919,499	T120K	probably benign	Het
Hells	G	T	19: 38,938,429	L84F	probably damaging	Het
Hydin	G	A	8: 110,538,449	V2755I	probably benign	Het
Irgq	C	A	7: 24,531,462	A26E	probably damaging	Het
Klhl29	A	T	12: 5,137,453	Y304N	probably damaging	Het
Muc6	T	C	7: 141,649,578		probably benign	Het
Myo15	T	C	11: 60,478,621	F736L	probably benign	Het
Nynrin	G	T	14: 55,870,655	W1073L	probably damaging	Het
Olfr116	A	T	17: 37,623,987	I216N	probably benign	Het
Olfr1490	A	T	19: 13,654,596	T51S	possibly damaging	Het
Olfr310	A	T	7: 86,269,720	I23N	probably damaging	Het
Olfr389	A	T	11: 73,776,545	C261S	probably benign	Het
Olfr63	G	A	17: 33,269,395	V224M	possibly damaging	Het
Olfr642	C	A	7: 104,049,781	C191F	probably damaging	Het
Olfr675	T	A	7: 105,024,222	I253F	probably damaging	Het
Pdzd2	T	A	15: 12,592,243	K105M	probably damaging	Het
Pip5k1c	C	A	10: 81,317,321		probably null	Het
Pola2	A	G	19: 5,953,774	V191A	probably benign	Het
Slc22a8	A	T	19: 8,593,959	Y18F	probably benign	Het
Slc26a5	C	T	5: 21,819,767	V440M	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
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
R4028:Cyp2j5	UTSW	4	96641416	nonsense	probably null
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

Posted On

2015-04-16