Mutagenetix > Incidental Mutation

Incidental Mutation 'R0387:Cyp2u1'

31331

Institutional Source

Beutler Lab

Gene Symbol

Cyp2u1

Ensembl Gene

ENSMUSG00000027983

Gene Name

cytochrome P450, family 2, subfamily u, polypeptide 1

Synonyms

8430436A10Rik

MMRRC Submission

038593-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R0387 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131084140-131097806 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 131089201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142519 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106337] [ENSMUST00000200236]

AlphaFold

Q9CX98

Predicted Effect

probably null
Transcript: ENSMUST00000106337

SMART Domains

Protein: ENSMUSP00000101944
Gene: ENSMUSG00000027983

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:p450	69	527	4.2e-126	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198606

Predicted Effect

probably null
Transcript: ENSMUST00000200236

SMART Domains

Protein: ENSMUSP00000142519
Gene: ENSMUSG00000027983

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:p450	69	473	1.1e-108	PFAM
transmembrane domain	476	498	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.9%
3x: 97.7%
10x: 94.2%
20x: 85.0%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a hydroxylase that metabolizes arachidonic acid, docosahexaenoic acid, and other long chain fatty acids. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	G	7: 119,932,075 (GRCm39)		probably null	Het
Abcc9	T	A	6: 142,585,230 (GRCm39)	K825*	probably null	Het
Afp	T	C	5: 90,645,150 (GRCm39)	C189R	probably damaging	Het
Akap9	T	C	5: 4,001,678 (GRCm39)		probably benign	Het
Alpk3	A	T	7: 80,753,975 (GRCm39)	T1652S	possibly damaging	Het
Atg4b	C	A	1: 93,714,278 (GRCm39)	Q354K	probably benign	Het
Atxn2	T	C	5: 121,940,206 (GRCm39)	S388P	possibly damaging	Het
C2cd3	T	A	7: 100,071,714 (GRCm39)		probably benign	Het
Cacna2d2	C	A	9: 107,391,080 (GRCm39)	T403K	probably damaging	Het
Cap2	C	T	13: 46,713,992 (GRCm39)	H79Y	probably damaging	Het
Car10	G	T	11: 93,473,847 (GRCm39)		probably null	Het
Ccno	T	C	13: 113,126,401 (GRCm39)	L290P	probably damaging	Het
Cfap69	T	C	5: 5,639,303 (GRCm39)	K624E	probably damaging	Het
Ctnna3	A	G	10: 64,421,909 (GRCm39)	M568V	probably benign	Het
Cyp1b1	C	A	17: 80,021,203 (GRCm39)	V180L	probably benign	Het
Dcp1a	T	C	14: 30,241,636 (GRCm39)		probably null	Het
Dnm1	C	T	2: 32,210,593 (GRCm39)	G1S	possibly damaging	Het
Dnmt1	A	G	9: 20,829,509 (GRCm39)	L698P	probably damaging	Het
Dock10	C	A	1: 80,517,993 (GRCm39)	C1327F	probably damaging	Het
Dph3b-ps	A	G	13: 106,683,363 (GRCm39)		noncoding transcript	Het
Dpyd	G	A	3: 119,220,875 (GRCm39)	D949N	probably benign	Het
Dync2li1	A	G	17: 84,962,768 (GRCm39)	K345E	possibly damaging	Het
Eml2	T	A	7: 18,916,184 (GRCm39)		probably null	Het
Exoc7	A	G	11: 116,185,227 (GRCm39)		probably benign	Het
Faah	A	T	4: 115,862,889 (GRCm39)	C113*	probably null	Het
Fcf1	T	A	12: 85,019,776 (GRCm39)	D16E	probably benign	Het
Fcgbp	T	C	7: 27,790,879 (GRCm39)		probably benign	Het
Ghr	A	G	15: 3,349,373 (GRCm39)	S602P	probably benign	Het
Gm5114	T	C	7: 39,058,233 (GRCm39)	D462G	probably benign	Het
Gm8186	T	A	17: 26,318,000 (GRCm39)	S66C	probably damaging	Het
Gorab	C	T	1: 163,224,403 (GRCm39)	V133M	probably benign	Het
Gria1	G	A	11: 57,200,710 (GRCm39)		probably null	Het
Grik1	T	A	16: 87,831,238 (GRCm39)		probably benign	Het
Gtf3c1	A	G	7: 125,280,276 (GRCm39)	L378P	probably damaging	Het
Htr5b	A	T	1: 121,455,275 (GRCm39)	V215D	probably damaging	Het
Htra1	A	G	7: 130,581,208 (GRCm39)	T319A	probably damaging	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Klrb1a	A	C	6: 128,586,697 (GRCm39)	H189Q	possibly damaging	Het
Lhfpl6	A	G	3: 52,950,749 (GRCm39)	T8A	probably benign	Het
Ly75	T	A	2: 60,136,748 (GRCm39)	Y1493F	probably benign	Het
Mfsd5	T	C	15: 102,189,531 (GRCm39)	I301T	possibly damaging	Het
Mlkl	C	T	8: 112,059,982 (GRCm39)	E135K	probably damaging	Het
Mrgprx2	A	C	7: 48,148,908 (GRCm39)	M1R	probably null	Het
Mroh2a	G	C	1: 88,173,764 (GRCm39)	A871P	probably damaging	Het
Mtbp	A	G	15: 55,474,425 (GRCm39)	I280V	possibly damaging	Het
Myo5c	A	T	9: 75,192,303 (GRCm39)		probably benign	Het
Nos3	A	G	5: 24,572,583 (GRCm39)	K174R	probably damaging	Het
Oas2	A	T	5: 120,883,737 (GRCm39)		probably benign	Het
Or8b40	T	A	9: 38,027,066 (GRCm39)		probably null	Het
Pi4kb	G	C	3: 94,892,051 (GRCm39)	E256Q	probably benign	Het
Pik3c2a	T	A	7: 115,972,979 (GRCm39)	I739F	probably damaging	Het
Pla2r1	T	A	2: 60,262,945 (GRCm39)	K1031N	probably benign	Het
Plk4	A	T	3: 40,767,319 (GRCm39)		probably benign	Het
Polq	T	C	16: 36,849,792 (GRCm39)	C349R	probably damaging	Het
Polq	G	T	16: 36,909,679 (GRCm39)	E2354D	probably damaging	Het
Prss22	A	G	17: 24,212,903 (GRCm39)	L278P	probably damaging	Het
Prss3l	A	G	6: 41,420,303 (GRCm39)	I141T	possibly damaging	Het
Ptprk	G	A	10: 28,230,625 (GRCm39)	V239I	possibly damaging	Het
Raph1	T	G	1: 60,549,655 (GRCm39)		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ripor3	C	T	2: 167,825,692 (GRCm39)	W755*	probably null	Het
Rnd3	G	T	2: 51,038,243 (GRCm39)	D77E	probably damaging	Het
Ryr1	T	C	7: 28,782,792 (GRCm39)		probably benign	Het
Serpinb1a	C	T	13: 33,032,721 (GRCm39)	V63I	probably benign	Het
Six1	T	G	12: 73,092,815 (GRCm39)	Y129S	probably damaging	Het
Spata31d1a	G	A	13: 59,851,315 (GRCm39)	T271I	probably damaging	Het
Stab1	T	C	14: 30,870,058 (GRCm39)	D1387G	probably benign	Het
Stra6	T	A	9: 58,060,466 (GRCm39)	M625K	probably benign	Het
Syne1	T	C	10: 5,301,029 (GRCm39)	S900G	probably benign	Het
Tdpoz4	A	C	3: 93,704,007 (GRCm39)	K101N	probably benign	Het
Tigd2	T	C	6: 59,188,143 (GRCm39)	Y337H	probably benign	Het
Tnxb	A	G	17: 34,902,548 (GRCm39)	I1134V	probably benign	Het
Tspyl5	A	G	15: 33,687,081 (GRCm39)	I288T	probably damaging	Het
Ulk1	A	G	5: 110,936,663 (GRCm39)	V61A	possibly damaging	Het
Xxylt1	A	G	16: 30,776,194 (GRCm39)	Y381H	probably benign	Het
Zcchc9	T	A	13: 91,949,066 (GRCm39)	M12L	probably benign	Het
Zfp106	T	C	2: 120,358,953 (GRCm39)		probably null	Het
Zfp74	T	A	7: 29,634,179 (GRCm39)	T510S	probably benign	Het
Zfp808	A	G	13: 62,317,292 (GRCm39)	T14A	probably damaging	Het

Other mutations in Cyp2u1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02027:Cyp2u1	APN	3	131,091,600 (GRCm39)	missense	probably damaging	1.00
IGL02365:Cyp2u1	APN	3	131,091,878 (GRCm39)	missense	probably damaging	1.00
R0781:Cyp2u1	UTSW	3	131,087,258 (GRCm39)	missense	possibly damaging	0.85
R1110:Cyp2u1	UTSW	3	131,087,258 (GRCm39)	missense	possibly damaging	0.85
R1620:Cyp2u1	UTSW	3	131,096,350 (GRCm39)	missense	probably damaging	0.98
R3087:Cyp2u1	UTSW	3	131,096,676 (GRCm39)	missense	probably benign
R3845:Cyp2u1	UTSW	3	131,087,135 (GRCm39)	missense	possibly damaging	0.66
R4996:Cyp2u1	UTSW	3	131,091,933 (GRCm39)	missense	probably benign	0.00
R5913:Cyp2u1	UTSW	3	131,096,860 (GRCm39)	unclassified	probably benign
R6815:Cyp2u1	UTSW	3	131,091,659 (GRCm39)	missense	probably damaging	1.00
R6903:Cyp2u1	UTSW	3	131,096,424 (GRCm39)	missense	probably benign	0.03
R6932:Cyp2u1	UTSW	3	131,091,945 (GRCm39)	missense	possibly damaging	0.94
R7067:Cyp2u1	UTSW	3	131,087,202 (GRCm39)	missense	probably damaging	1.00
R7167:Cyp2u1	UTSW	3	131,096,773 (GRCm39)	missense	probably benign	0.23
R7193:Cyp2u1	UTSW	3	131,084,792 (GRCm39)	missense	probably benign
R7262:Cyp2u1	UTSW	3	131,091,605 (GRCm39)	missense	probably damaging	1.00
R7371:Cyp2u1	UTSW	3	131,087,144 (GRCm39)	missense	probably benign	0.01
R7488:Cyp2u1	UTSW	3	131,091,596 (GRCm39)	missense	probably damaging	1.00
R7605:Cyp2u1	UTSW	3	131,091,602 (GRCm39)	missense	probably damaging	0.99
R7733:Cyp2u1	UTSW	3	131,096,676 (GRCm39)	missense	probably benign	0.40
R8110:Cyp2u1	UTSW	3	131,087,303 (GRCm39)	missense	probably damaging	1.00
R8819:Cyp2u1	UTSW	3	131,092,016 (GRCm39)	missense	probably damaging	1.00
R8820:Cyp2u1	UTSW	3	131,092,016 (GRCm39)	missense	probably damaging	1.00
R8887:Cyp2u1	UTSW	3	131,096,503 (GRCm39)	missense	probably damaging	0.98
R8919:Cyp2u1	UTSW	3	131,089,114 (GRCm39)	missense	probably damaging	1.00
R9334:Cyp2u1	UTSW	3	131,092,065 (GRCm39)	missense	probably damaging	0.99
R9377:Cyp2u1	UTSW	3	131,091,449 (GRCm39)	missense	possibly damaging	0.94
R9778:Cyp2u1	UTSW	3	131,087,133 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- AACAACCCAGGACCTTTCTGATGTG -3'
(R):5'- GCTGTCCATCAAAGCTCCAGTGTG -3'

Sequencing Primer
(F):5'- ACTCGGAGGATTCCCTCAG -3'
(R):5'- AAGCTCCAGTGTGGCAGG -3'

Posted On

2013-04-24