Mutagenetix > Incidental Mutation

Incidental Mutation 'R7262:Cyp2u1'

564677

Institutional Source

Beutler Lab

Gene Symbol

Cyp2u1

Ensembl Gene

ENSMUSG00000027983

Gene Name

cytochrome P450, family 2, subfamily u, polypeptide 1

Synonyms

8430436A10Rik

MMRRC Submission

045353-MU

Accession Numbers

Essential gene?

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

Stock #

R7262 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

131084140-131097806 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 131091605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 305 (D305G)

Ref Sequence

ENSEMBL: ENSMUSP00000101944 (fasta)

Gene Model

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

AlphaFold

Q9CX98

Predicted Effect

probably damaging
Transcript: ENSMUST00000106337
AA Change: D305G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101944
Gene: ENSMUSG00000027983
AA Change: D305G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000200236
AA Change: D305G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142519
Gene: ENSMUSG00000027983
AA Change: D305G

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

0.8638

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (53/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	G	16: 30,946,137 (GRCm39)		probably null	Het
Adh5	C	A	3: 138,151,133 (GRCm39)	A32D	possibly damaging	Het
Ap1m2	A	G	9: 21,213,762 (GRCm39)	I295T	possibly damaging	Het
B230104I21Rik	T	C	4: 154,434,091 (GRCm39)	S92P	unknown	Het
Carnmt1	A	T	19: 18,655,228 (GRCm39)	N127I	probably benign	Het
Ccdc42	A	G	11: 68,485,399 (GRCm39)	T106A	probably damaging	Het
Cdcp1	T	C	9: 123,002,680 (GRCm39)	E797G	probably damaging	Het
Cep112	T	A	11: 108,555,467 (GRCm39)	V821D	probably damaging	Het
Cpvl	A	T	6: 53,909,500 (GRCm39)	V212D	probably damaging	Het
Cttnbp2nl	A	T	3: 104,940,062 (GRCm39)	N2K	probably damaging	Het
Cyp2c69	T	C	19: 39,875,176 (GRCm39)		probably benign	Het
Dab2ip	A	G	2: 35,512,298 (GRCm39)		probably null	Het
Ddx55	T	C	5: 124,704,919 (GRCm39)	L396P	probably benign	Het
Dhx34	G	A	7: 15,937,623 (GRCm39)	A786V	probably benign	Het
Efcab3	G	A	11: 104,745,432 (GRCm39)		probably null	Het
Ehbp1l1	A	T	19: 5,768,474 (GRCm39)	L943*	probably null	Het
Epm2aip1	A	G	9: 111,101,728 (GRCm39)	T234A	probably benign	Het
Flot2	T	C	11: 77,948,175 (GRCm39)	M145T	probably damaging	Het
Fn3k	T	C	11: 121,339,741 (GRCm39)	F168L	probably damaging	Het
Gmfb	A	T	14: 47,052,386 (GRCm39)	C87S	probably damaging	Het
H2-M3	T	C	17: 37,582,084 (GRCm39)	F180S	probably damaging	Het
Havcr2	C	T	11: 46,360,388 (GRCm39)	T205I	probably benign	Het
Hdac3	C	T	18: 38,078,616 (GRCm39)	C123Y	probably damaging	Het
Itpk1	T	C	12: 102,641,712 (GRCm39)	E37G	possibly damaging	Het
Jmjd7	A	G	2: 119,862,467 (GRCm39)	H283R	probably benign	Het
Kif26b	T	C	1: 178,745,219 (GRCm39)	S1772P	possibly damaging	Het
Klhl6	T	C	16: 19,801,546 (GRCm39)	T70A	probably damaging	Het
Kntc1	C	A	5: 123,925,036 (GRCm39)	D1116E	probably benign	Het
Lama4	T	A	10: 38,970,930 (GRCm39)	H1498Q	probably damaging	Het
Lamp1	A	T	8: 13,217,296 (GRCm39)	T102S	probably benign	Het
Lrp8	A	G	4: 107,704,661 (GRCm39)	N168D	probably benign	Het
Ltbp1	G	T	17: 75,671,363 (GRCm39)	D1515Y	probably damaging	Het
Obscn	A	G	11: 59,006,715 (GRCm39)	V1149A	probably damaging	Het
Or10q1	A	T	19: 13,726,535 (GRCm39)	T22S	probably benign	Het
Or4f6	A	G	2: 111,838,902 (GRCm39)	S210P	probably damaging	Het
Or52ad1	T	C	7: 102,995,764 (GRCm39)	R124G	probably damaging	Het
Pak4	C	A	7: 28,264,625 (GRCm39)	M92I	possibly damaging	Het
Pam	T	C	1: 97,782,448 (GRCm39)	K157R		Het
Pcdh9	A	T	14: 93,253,141 (GRCm39)	V1174E	probably benign	Het
Phf8-ps	G	A	17: 33,285,971 (GRCm39)	T277I	probably damaging	Het
Ppp1r3a	T	C	6: 14,719,069 (GRCm39)	D615G	probably benign	Het
Senp1	A	T	15: 97,964,379 (GRCm39)	D278E	probably benign	Het
Serpinc1	A	G	1: 160,817,229 (GRCm39)	N108D	probably damaging	Het
Srl	C	A	16: 4,315,415 (GRCm39)	A76S	probably damaging	Het
Tbc1d16	C	A	11: 119,045,921 (GRCm39)	V509L	probably benign	Het
Tbc1d24	A	G	17: 24,426,820 (GRCm39)	F357S	probably damaging	Het
Tcaf3	A	G	6: 42,570,735 (GRCm39)	L339P	probably damaging	Het
Tmem232	A	T	17: 65,807,112 (GRCm39)	I27N	probably benign	Het
Ubr2	T	C	17: 47,311,665 (GRCm39)	D62G	probably damaging	Het
Vcan	T	G	13: 89,853,280 (GRCm39)	D560A	possibly damaging	Het
Vmn2r80	T	A	10: 79,005,579 (GRCm39)	N405K	probably damaging	Het
Wdhd1	A	T	14: 47,489,430 (GRCm39)	I701K	probably benign	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
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
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'- TCAAAGAACCTGCCTTTACCCTG -3'
(R):5'- GGTTGGAAATCTGCCTGCAC -3'

Sequencing Primer
(F):5'- AGAACCTGCCTTTACCCTGAGTTAAG -3'
(R):5'- ATCTGCCTGCACAGCCAG -3'

Posted On

2019-06-26