Mutagenetix > Incidental Mutation

Incidental Mutation 'R5666:Cyp2j5'

444408

Institutional Source

Beutler Lab

Gene Symbol

Cyp2j5

Ensembl Gene

ENSMUSG00000052520

Gene Name

cytochrome P450, family 2, subfamily j, polypeptide 5

Synonyms

MMRRC Submission

043309-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R5666 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96517010-96552391 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 96546930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 195 (V195I)

Ref Sequence

ENSEMBL: ENSMUSP00000030299 (fasta)

Gene Model

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

AlphaFold

O54749

Predicted Effect

probably benign
Transcript: ENSMUST00000030299
AA Change: V195I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000030299
Gene: ENSMUSG00000052520
AA Change: V195I

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: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.8%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930524J08Rik	T	C	5: 100,127,068 (GRCm39)		probably benign	Het
Abce1	C	A	8: 80,416,906 (GRCm39)	E368D	probably benign	Het
Becn2	C	T	1: 175,749,179 (GRCm39)	T415M	probably damaging	Het
Bmper	T	A	9: 23,384,759 (GRCm39)	M588K	probably damaging	Het
Bop1	T	C	15: 76,338,433 (GRCm39)	E503G	probably benign	Het
Btla	A	T	16: 45,070,782 (GRCm39)	D247V	probably damaging	Het
Cap2	T	A	13: 46,684,559 (GRCm39)		probably null	Het
Chd2	A	T	7: 73,091,465 (GRCm39)	I1592K	probably benign	Het
Chd3	T	C	11: 69,244,177 (GRCm39)	E1202G	possibly damaging	Het
Cmya5	T	C	13: 93,182,457 (GRCm39)	I3568V	possibly damaging	Het
Col4a4	A	G	1: 82,463,300 (GRCm39)		probably null	Het
Cpxm2	C	T	7: 131,656,625 (GRCm39)	E546K	probably benign	Het
Ddb2	C	T	2: 91,042,926 (GRCm39)	V353M	probably damaging	Het
Dscam	G	A	16: 96,519,364 (GRCm39)	T791I	probably benign	Het
Dtd2	T	A	12: 52,046,643 (GRCm39)	L65F	probably damaging	Het
E2f1	T	A	2: 154,411,101 (GRCm39)		probably benign	Het
Ephb3	A	G	16: 21,041,241 (GRCm39)	N732S	probably benign	Het
Fkbp10	G	T	11: 100,314,352 (GRCm39)	W384L	probably damaging	Het
Foxm1	C	T	6: 128,350,130 (GRCm39)	S339L	possibly damaging	Het
Fzd6	A	T	15: 38,894,510 (GRCm39)	R225S	probably benign	Het
Gfpt1	A	T	6: 87,030,795 (GRCm39)	I60F	possibly damaging	Het
Glce	A	G	9: 61,967,793 (GRCm39)	S453P	probably damaging	Het
Gm4787	G	A	12: 81,424,805 (GRCm39)	T451I	probably benign	Het
Hs2st1	A	T	3: 144,275,554 (GRCm39)	V22E	probably damaging	Het
Hspa9	T	C	18: 35,087,300 (GRCm39)	I2V	probably null	Het
Ikzf2	A	G	1: 69,617,059 (GRCm39)	V96A	probably benign	Het
Ilkap	T	C	1: 91,318,863 (GRCm39)	T38A	probably benign	Het
Lpin3	A	G	2: 160,739,250 (GRCm39)	T353A	probably benign	Het
Myh1	T	A	11: 67,112,178 (GRCm39)	I1744N	probably benign	Het
Nadsyn1	C	T	7: 143,361,168 (GRCm39)	G335S	probably damaging	Het
Ndc1	T	C	4: 107,246,723 (GRCm39)	V382A	possibly damaging	Het
Ndufaf4	A	T	4: 24,898,636 (GRCm39)	D64V	probably damaging	Het
Nfe2l2	T	C	2: 75,507,462 (GRCm39)	T213A	probably benign	Het
Nkain4	A	G	2: 180,584,995 (GRCm39)	L73P	probably damaging	Het
Nmt1	C	T	11: 102,949,041 (GRCm39)	R299*	probably null	Het
Or1j20	T	A	2: 36,760,401 (GRCm39)	D274E	probably benign	Het
Or2y8	A	C	11: 52,035,525 (GRCm39)	Y277*	probably null	Het
Or4b12	T	C	2: 90,096,308 (GRCm39)	I155M	probably benign	Het
Or5k1	G	A	16: 58,617,424 (GRCm39)	P262S	possibly damaging	Het
Padi2	G	T	4: 140,676,542 (GRCm39)	R560L	possibly damaging	Het
Palmd	T	C	3: 116,717,750 (GRCm39)	N249S	possibly damaging	Het
Pde1c	A	C	6: 56,103,842 (GRCm39)		probably null	Het
Pdgfra	T	C	5: 75,334,156 (GRCm39)	S410P	probably benign	Het
Phldb1	T	C	9: 44,627,078 (GRCm39)	M456V	probably damaging	Het
Pla2g2d	T	A	4: 138,507,591 (GRCm39)	C82S	probably damaging	Het
Rgs21	A	G	1: 144,412,680 (GRCm39)	V48A	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Slc4a2	G	T	5: 24,639,836 (GRCm39)	V506L	probably damaging	Het
Slc7a4	A	G	16: 17,393,815 (GRCm39)		probably benign	Het
Sptbn5	C	G	2: 119,916,048 (GRCm39)		probably benign	Het
Sstr2	T	A	11: 113,515,539 (GRCm39)	W153R	probably damaging	Het
Steap2	C	T	5: 5,723,681 (GRCm39)	V400I	probably benign	Het
Syne2	G	A	12: 75,997,733 (GRCm39)	G2236D	probably benign	Het
Tas2r130	T	C	6: 131,607,342 (GRCm39)	N151S	possibly damaging	Het
Tex52	T	C	6: 128,352,518 (GRCm39)	S13P	probably benign	Het
Tmprss13	A	G	9: 45,256,253 (GRCm39)	I456V	probably damaging	Het
Trim24	T	C	6: 37,942,536 (GRCm39)	F946S	probably benign	Het
Vmn2r10	A	T	5: 109,146,910 (GRCm39)	Y459*	probably null	Het
Vwa1	A	G	4: 155,858,922 (GRCm39)	L13P	probably damaging	Het
Zfp648	C	A	1: 154,079,963 (GRCm39)	Q41K	probably benign	Het

Other mutations in Cyp2j5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Cyp2j5	APN	4	96,519,012 (GRCm39)	missense	probably damaging	1.00
IGL00670:Cyp2j5	APN	4	96,522,512 (GRCm39)	missense	probably benign	0.05
IGL00824:Cyp2j5	APN	4	96,552,160 (GRCm39)	missense	probably benign
IGL01450:Cyp2j5	APN	4	96,546,927 (GRCm39)	missense	probably damaging	0.99
IGL01621:Cyp2j5	APN	4	96,517,791 (GRCm39)	missense	probably benign
IGL02639:Cyp2j5	APN	4	96,546,986 (GRCm39)	missense	probably benign	0.12
IGL03024:Cyp2j5	APN	4	96,517,760 (GRCm39)	missense	probably benign	0.03
IGL03212:Cyp2j5	APN	4	96,552,055 (GRCm39)	missense	probably damaging	0.97
aesculapius	UTSW	4	96,547,849 (GRCm39)	missense	possibly damaging	0.95
Kaduceus	UTSW	4	96,524,052 (GRCm39)	missense	probably benign	0.02
R0112:Cyp2j5	UTSW	4	96,517,760 (GRCm39)	missense	probably benign	0.03
R0626:Cyp2j5	UTSW	4	96,547,749 (GRCm39)	missense	probably benign	0.01
R1387:Cyp2j5	UTSW	4	96,522,522 (GRCm39)	missense	probably damaging	1.00
R1638:Cyp2j5	UTSW	4	96,524,052 (GRCm39)	missense	probably benign	0.02
R1857:Cyp2j5	UTSW	4	96,547,723 (GRCm39)	missense	possibly damaging	0.88
R1920:Cyp2j5	UTSW	4	96,551,491 (GRCm39)	missense	probably damaging	1.00
R2149:Cyp2j5	UTSW	4	96,529,577 (GRCm39)	missense	possibly damaging	0.95
R2213:Cyp2j5	UTSW	4	96,547,852 (GRCm39)	missense	probably benign	0.09
R4028:Cyp2j5	UTSW	4	96,529,653 (GRCm39)	nonsense	probably null
R4895:Cyp2j5	UTSW	4	96,551,347 (GRCm39)	critical splice donor site	probably null
R5132:Cyp2j5	UTSW	4	96,517,733 (GRCm39)	missense	probably damaging	1.00
R5149:Cyp2j5	UTSW	4	96,547,744 (GRCm39)	missense	probably damaging	1.00
R6676:Cyp2j5	UTSW	4	96,524,045 (GRCm39)	missense	possibly damaging	0.57
R7328:Cyp2j5	UTSW	4	96,551,450 (GRCm39)	missense	probably damaging	0.99
R7853:Cyp2j5	UTSW	4	96,529,656 (GRCm39)	missense	probably benign	0.06
R7943:Cyp2j5	UTSW	4	96,547,849 (GRCm39)	missense	possibly damaging	0.95
R8016:Cyp2j5	UTSW	4	96,546,951 (GRCm39)	missense	probably damaging	1.00
R8052:Cyp2j5	UTSW	4	96,552,241 (GRCm39)	missense	probably benign
R8064:Cyp2j5	UTSW	4	96,546,948 (GRCm39)	missense	probably damaging	1.00
R8711:Cyp2j5	UTSW	4	96,529,660 (GRCm39)	missense	possibly damaging	0.94
R8890:Cyp2j5	UTSW	4	96,522,555 (GRCm39)	missense	probably damaging	1.00
R8929:Cyp2j5	UTSW	4	96,546,977 (GRCm39)	missense	possibly damaging	0.95
R9006:Cyp2j5	UTSW	4	96,552,149 (GRCm39)	missense	probably benign	0.30
R9433:Cyp2j5	UTSW	4	96,552,244 (GRCm39)	missense	probably benign
R9465:Cyp2j5	UTSW	4	96,522,551 (GRCm39)	missense	probably damaging	1.00
R9469:Cyp2j5	UTSW	4	96,517,731 (GRCm39)	nonsense	probably null
R9631:Cyp2j5	UTSW	4	96,529,522 (GRCm39)	missense	probably benign	0.00
Z1176:Cyp2j5	UTSW	4	96,517,743 (GRCm39)	missense	probably damaging	1.00
Z1177:Cyp2j5	UTSW	4	96,547,717 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATGAAGACTCTATGACCAATAATGC -3'
(R):5'- TTCTTAGACACTAGCAAAATCCTTG -3'

Sequencing Primer
(F):5'- TCTATGACCAATAATGCTCTCCAG -3'
(R):5'- CCCATGTAGGATTCTGTGGACAC -3'

Posted On

2016-11-09