Mutagenetix > Incidental Mutation

Incidental Mutation 'R8887:Cyp2u1'

677381

Institutional Source

Beutler Lab

Gene Symbol

Cyp2u1

Ensembl Gene

ENSMUSG00000027983

Gene Name

cytochrome P450, family 2, subfamily u, polypeptide 1

Synonyms

8430436A10Rik

MMRRC Submission

068752-MU

Accession Numbers

Essential gene?

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

Stock #

R8887 (G1)

Quality Score

115.008

Status

Validated

Chromosome

Chromosomal Location

131084140-131097806 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 131096503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 92 (Y92H)

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: Y92H

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101944
Gene: ENSMUSG00000027983
AA Change: Y92H

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: Y92H

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142519
Gene: ENSMUSG00000027983
AA Change: Y92H

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

98% (93/95)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg2	T	C	17: 57,175,285 (GRCm39)	T76A	probably benign	Het
Actn1	A	G	12: 80,215,197 (GRCm39)	C860R	probably damaging	Het
Adam23	T	A	1: 63,554,744 (GRCm39)	L170Q	probably damaging	Het
Afdn	C	T	17: 14,116,401 (GRCm39)	R1620*	probably null	Het
Agfg1	A	G	1: 82,848,525 (GRCm39)		probably benign	Het
Aire	A	G	10: 77,870,298 (GRCm39)	S476P	probably damaging	Het
Arhgef26	A	G	3: 62,247,401 (GRCm39)	T162A	probably benign	Het
Atp1a2	T	C	1: 172,113,222 (GRCm39)	Q487R	probably null	Het
BC048507	T	A	13: 68,011,628 (GRCm39)	C2S	probably benign	Het
Bltp1	G	T	3: 37,087,503 (GRCm39)	A615S	possibly damaging	Het
Bnc2	A	C	4: 84,209,707 (GRCm39)		probably benign	Het
Bop1	C	T	15: 76,338,524 (GRCm39)	G473R	probably damaging	Het
C1galt1	A	G	6: 7,866,379 (GRCm39)	E75G	probably benign	Het
Cacna1i	T	C	15: 80,258,894 (GRCm39)	V1201A	possibly damaging	Het
Cecr2	C	A	6: 120,715,162 (GRCm39)	T249K	probably damaging	Het
Clca3a2	C	A	3: 144,790,810 (GRCm39)	G421*	probably null	Het
Clec1b	A	T	6: 129,378,703 (GRCm39)		probably null	Het
Cnksr3	C	T	10: 7,104,467 (GRCm39)	D79N	probably damaging	Het
Col15a1	A	G	4: 47,287,091 (GRCm39)	Q843R	probably damaging	Het
Col6a3	T	C	1: 90,755,948 (GRCm39)	S114G	probably benign	Het
Corin	A	T	5: 72,486,953 (GRCm39)		probably null	Het
Dcbld2	T	C	16: 58,229,270 (GRCm39)	L51P	probably damaging	Het
Dip2c	T	A	13: 9,673,989 (GRCm39)		probably benign	Het
Dlc1	A	T	8: 37,051,481 (GRCm39)	V299E	probably benign	Het
Dlgap2	G	A	8: 14,229,682 (GRCm39)		probably null	Het
Dnah1	A	G	14: 31,032,997 (GRCm39)	L346P	probably damaging	Het
Dnah9	T	C	11: 65,746,210 (GRCm39)	T3968A	probably benign	Het
Duox2	A	C	2: 122,120,044 (GRCm39)	M822R	probably null	Het
E2f7	A	T	10: 110,610,674 (GRCm39)	Q433L	probably benign	Het
Eif3k	A	C	7: 28,679,901 (GRCm39)	Y42*	probably null	Het
Elmod3	A	G	6: 72,563,494 (GRCm39)	S45P	probably damaging	Het
Emilin3	C	A	2: 160,751,108 (GRCm39)	V214F	possibly damaging	Het
Fbxo10	A	T	4: 45,058,887 (GRCm39)	F283L	probably benign	Het
Fbxw7	T	C	3: 84,876,549 (GRCm39)	Y358H		Het
G430095P16Rik	A	G	8: 85,453,043 (GRCm39)	N10S	unknown	Het
Gldc	A	G	19: 30,111,156 (GRCm39)	V540A	possibly damaging	Het
Gm3667	T	A	14: 18,271,553 (GRCm39)	E67D	probably benign	Het
Golga3	T	A	5: 110,353,626 (GRCm39)		probably benign	Het
H60c	T	C	10: 3,217,255 (GRCm39)	E38G	probably benign	Het
Hectd4	A	G	5: 121,433,541 (GRCm39)	D952G	probably benign	Het
Hoxb8	T	A	11: 96,175,223 (GRCm39)	L220Q	probably damaging	Het
Ice1	A	T	13: 70,751,050 (GRCm39)	L1679M	probably damaging	Het
Ifi202b	T	A	1: 173,802,480 (GRCm39)	Y118F	probably damaging	Het
Ift122	A	T	6: 115,868,880 (GRCm39)	T456S	probably benign	Het
Ighg3	G	A	12: 113,323,845 (GRCm39)	T181I		Het
Ighv1-66	C	A	12: 115,557,032 (GRCm39)	V17F	probably damaging	Het
Ighv5-12-4	A	G	12: 113,726,130 (GRCm39)	V31A	possibly damaging	Het
Ints12	T	A	3: 132,815,003 (GRCm39)	N403K	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kalrn	A	C	16: 34,047,496 (GRCm39)	N908K	probably benign	Het
Kctd9	G	A	14: 67,962,016 (GRCm39)	V20I	unknown	Het
Krt78	G	T	15: 101,861,746 (GRCm39)	L167M	probably damaging	Het
Ldb1	T	C	19: 46,023,294 (GRCm39)	E206G	probably damaging	Het
Lig1	A	G	7: 13,030,713 (GRCm39)	Y455C	probably damaging	Het
Ltbp1	T	G	17: 75,486,077 (GRCm39)	I34S	probably damaging	Het
Map2	T	C	1: 66,454,758 (GRCm39)	I1216T	possibly damaging	Het
Mex3c	T	C	18: 73,706,800 (GRCm39)	V229A	probably damaging	Het
Mfsd11	T	C	11: 116,745,526 (GRCm39)		probably null	Het
Mroh1	A	G	15: 76,331,474 (GRCm39)	T1233A	probably benign	Het
Myct1	C	T	10: 5,554,208 (GRCm39)	T25I	probably damaging	Het
Nipbl	A	T	15: 8,391,271 (GRCm39)	H234Q	probably damaging	Het
Npc1l1	G	A	11: 6,175,665 (GRCm39)	P549S	probably damaging	Het
Or12d2	A	T	17: 37,624,642 (GRCm39)	L211Q	probably damaging	Het
Or4c3	A	G	2: 89,852,269 (GRCm39)	V47A	probably benign	Het
Or5h22	A	T	16: 58,894,846 (GRCm39)	V199D	possibly damaging	Het
Or5w22	A	G	2: 87,363,187 (GRCm39)	D270G	possibly damaging	Het
Or6c3b	A	T	10: 129,527,372 (GRCm39)	Y179*	probably null	Het
Padi3	A	T	4: 140,523,795 (GRCm39)	C228*	probably null	Het
Palld	T	A	8: 61,986,512 (GRCm39)	D1015V	unknown	Het
Pcna-ps2	A	T	19: 9,261,488 (GRCm39)	Y249F	probably benign	Het
Pelo	C	T	13: 115,225,451 (GRCm39)	C258Y	probably benign	Het
Ppp1r13b	A	T	12: 111,803,430 (GRCm39)		probably benign	Het
Pramel26	A	G	4: 143,539,257 (GRCm39)	F79L	probably damaging	Het
Prdm2	A	G	4: 142,860,771 (GRCm39)	W840R	probably damaging	Het
Prkcg	A	G	7: 3,370,857 (GRCm39)	D428G	possibly damaging	Het
Pus7	G	A	5: 23,948,476 (GRCm39)	R571*	probably null	Het
Rab11fip3	A	G	17: 26,286,927 (GRCm39)	C409R	possibly damaging	Het
Rdh13	T	C	7: 4,434,522 (GRCm39)	D186G	probably damaging	Het
Rslcan18	T	A	13: 67,246,793 (GRCm39)	H273L	probably damaging	Het
Rxfp1	T	A	3: 79,559,289 (GRCm39)		probably benign	Het
Sh3bp1	T	A	15: 78,788,540 (GRCm39)		probably null	Het
Siglecg	T	A	7: 43,058,008 (GRCm39)	S9T	probably benign	Het
Slc9a1	T	C	4: 133,139,258 (GRCm39)	F159L	probably benign	Het
Slc9a2	A	G	1: 40,758,009 (GRCm39)	I183V	probably benign	Het
St6galnac4	A	G	2: 32,484,110 (GRCm39)	M103V	probably damaging	Het
Tbc1d30	T	C	10: 121,187,059 (GRCm39)	D42G	possibly damaging	Het
Tlr5	C	A	1: 182,801,332 (GRCm39)	T212K	probably benign	Het
Trim43b	T	G	9: 88,969,642 (GRCm39)	I269L	probably benign	Het
Ttll6	T	C	11: 96,047,492 (GRCm39)	L697P	possibly damaging	Het
Ttn	T	G	2: 76,549,239 (GRCm39)	T31813P	probably damaging	Het
Ttn	A	T	2: 76,571,932 (GRCm39)	D26320E	probably damaging	Het
Uba6	A	G	5: 86,307,061 (GRCm39)		probably null	Het
Usp1	C	G	4: 98,819,185 (GRCm39)	Q216E	probably benign	Het
Vcan	T	C	13: 89,853,026 (GRCm39)	T645A	probably benign	Het
Wdr64	C	A	1: 175,599,850 (GRCm39)	P559H	probably benign	Het
Zfat	T	C	15: 68,056,315 (GRCm39)	Y247C	probably damaging	Het
Zfp979	A	T	4: 147,698,219 (GRCm39)	N163K	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
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
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
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'- TCTCCTTGGTCATGATGGAGATGAG -3'
(R):5'- AGTCATGTAGCCGGCTACTG -3'

Sequencing Primer
(F):5'- TCACTGAACACTTCAGCC -3'
(R):5'- AGCTAGATGCAGGCGGTACC -3'

Posted On

2021-08-02