Mutagenetix > Incidental Mutation

Incidental Mutation 'R5913:Cyp2u1'

501964

Institutional Source

Beutler Lab

Gene Symbol

Cyp2u1

Ensembl Gene

ENSMUSG00000027983

Gene Name

cytochrome P450, family 2, subfamily u, polypeptide 1

Synonyms

8430436A10Rik

MMRRC Submission

044110-MU

Accession Numbers

Essential gene?

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

Stock #

R5913 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

131084140-131097806 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 131096860 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 benign
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: ENSMUST00000181438

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198606

Predicted Effect

probably benign
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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

97% (75/77)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2cl	A	T	9: 110,718,773 (GRCm39)		probably null	Het
Arhgef19	A	T	4: 140,976,609 (GRCm39)	H457L	probably benign	Het
Armc3	A	G	2: 19,314,858 (GRCm39)	Y856C	possibly damaging	Het
Bdp1	A	T	13: 100,187,612 (GRCm39)	V1585D	probably benign	Het
Bhlhe40	T	G	6: 108,642,154 (GRCm39)	M366R	possibly damaging	Het
Bora	C	T	14: 99,305,948 (GRCm39)	S439L	probably benign	Het
Cacnb4	G	A	2: 52,324,796 (GRCm39)		probably benign	Het
Carm1	T	C	9: 21,498,848 (GRCm39)	S529P	probably benign	Het
Cd200r1	A	G	16: 44,610,034 (GRCm39)	I84M	possibly damaging	Het
Cd209a	A	G	8: 3,798,742 (GRCm39)	S22P	probably benign	Het
Celf2	A	T	2: 7,085,969 (GRCm39)	M1K	probably null	Het
Cep112	A	G	11: 108,648,514 (GRCm39)	T783A	probably damaging	Het
Cep95	T	C	11: 106,709,335 (GRCm39)		probably benign	Het
Clip4	G	A	17: 72,131,760 (GRCm39)	R366K	probably benign	Het
Csmd2	A	G	4: 128,445,781 (GRCm39)	K3284E	probably benign	Het
Csn3	T	A	5: 88,075,470 (GRCm39)	L12Q	probably damaging	Het
Ctdnep1	T	C	11: 69,879,691 (GRCm39)	L39P	probably damaging	Het
Cxcl17	C	T	7: 25,101,671 (GRCm39)	W55*	probably null	Het
Dmgdh	A	T	13: 93,888,831 (GRCm39)	E823V	possibly damaging	Het
Dnah2	T	C	11: 69,339,256 (GRCm39)	I3078V	probably damaging	Het
Dpp10	A	C	1: 123,312,018 (GRCm39)	Y446D	probably damaging	Het
Eif2s3y	T	C	Y: 1,017,365 (GRCm39)	V290A	probably benign	Homo
Fktn	G	A	4: 53,735,035 (GRCm39)	W224*	probably null	Het
Gm37240	T	C	3: 84,874,905 (GRCm39)		probably benign	Het
Gpr3	A	G	4: 132,938,489 (GRCm39)	V61A	probably damaging	Het
Gulo	T	C	14: 66,237,470 (GRCm39)		probably null	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hectd4	T	A	5: 121,462,037 (GRCm39)	I968K	possibly damaging	Het
Hmox2	G	T	16: 4,582,732 (GRCm39)	R155L	probably damaging	Het
Ifnlr1	C	A	4: 135,432,580 (GRCm39)	Q339K	probably damaging	Het
Ifnlr1	A	T	4: 135,432,581 (GRCm39)	Q339L	probably damaging	Het
Irf4	T	A	13: 30,941,741 (GRCm39)	S365T	probably benign	Het
Klrb1a	T	G	6: 128,595,472 (GRCm39)	D124A	probably damaging	Het
Macf1	A	T	4: 123,369,832 (GRCm39)	I78N	probably damaging	Het
Mctp1	G	T	13: 76,907,944 (GRCm39)		probably null	Het
Muc21	C	T	17: 35,934,123 (GRCm39)		probably benign	Het
Mxra8	A	T	4: 155,927,760 (GRCm39)		probably null	Het
Nlrp2	T	A	7: 5,327,902 (GRCm39)		probably null	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
P2ry13	T	C	3: 59,116,786 (GRCm39)	T331A	probably benign	Het
Padi2	G	A	4: 140,644,952 (GRCm39)	R62H	probably benign	Het
Pcdhb15	A	T	18: 37,607,707 (GRCm39)	Q313L	probably benign	Het
Pcdhga11	A	G	18: 37,889,045 (GRCm39)	I18V	probably benign	Het
Pcdhga11	A	G	18: 37,891,142 (GRCm39)	R717G	probably benign	Het
Pcif1	C	A	2: 164,726,412 (GRCm39)		probably benign	Het
Pkd1l1	T	C	11: 8,813,849 (GRCm39)	T1501A	probably benign	Het
Plekhg2	C	A	7: 28,064,027 (GRCm39)	R473L	probably damaging	Het
Plekhn1	T	C	4: 156,307,152 (GRCm39)	Y466C	probably damaging	Het
Sec22c	A	G	9: 121,519,368 (GRCm39)	S83P	possibly damaging	Het
Sgcz	T	A	8: 37,993,425 (GRCm39)	Q224L	possibly damaging	Het
Slc27a1	C	T	8: 72,036,907 (GRCm39)	P381L	probably benign	Het
Slc8a1	T	A	17: 81,955,431 (GRCm39)	I536F	probably damaging	Het
Src	T	A	2: 157,307,950 (GRCm39)		probably null	Het
Sybu	T	A	15: 44,651,017 (GRCm39)	T96S	probably damaging	Het
Tbc1d22a	T	C	15: 86,235,929 (GRCm39)	Y363H	probably damaging	Het
Tdrd6	T	C	17: 43,939,302 (GRCm39)	E582G	possibly damaging	Het
Tmem131	C	A	1: 36,858,209 (GRCm39)	V713L	probably benign	Het
Tnfsf13b	T	A	8: 10,056,988 (GRCm39)	L49Q	probably damaging	Het
Trem2	T	A	17: 48,653,661 (GRCm39)		probably benign	Het
Tspyl3	T	A	2: 153,066,636 (GRCm39)	M201L	probably benign	Het
Ttl	A	G	2: 128,917,961 (GRCm39)	D141G	probably benign	Het
Ube2z	A	G	11: 95,951,889 (GRCm39)	V153A	possibly damaging	Het
Ubr3	A	G	2: 69,851,559 (GRCm39)	Y1842C	probably damaging	Het
Usp33	T	C	3: 152,086,229 (GRCm39)	V656A	probably damaging	Het
Vmn2r74	G	A	7: 85,601,098 (GRCm39)	R847C	probably damaging	Het
Vmo1	A	T	11: 70,405,241 (GRCm39)	V63D	probably damaging	Het
Zcwpw1	T	A	5: 137,798,269 (GRCm39)	D155E	probably benign	Het
Zeb1	T	G	18: 5,766,765 (GRCm39)	S425R	possibly 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
R0387:Cyp2u1	UTSW	3	131,089,201 (GRCm39)	splice site	probably null
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
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'- CAGCAAGTGCCCGAAGTTAC -3'
(R):5'- TGCTGCTAGTGCACTAAACTGG -3'

Sequencing Primer
(F):5'- CCGAAGTTACCCACGAGTG -3'
(R):5'- TAGTGCACTAAACTGGCAAAAC -3'

Posted On

2018-01-31