Mutagenetix > Incidental Mutation

Incidental Mutation 'R0650:Cyp2s1'

62202

Institutional Source

Beutler Lab

Gene Symbol

Cyp2s1

Ensembl Gene

ENSMUSG00000040703

Gene Name

cytochrome P450, family 2, subfamily s, polypeptide 1

Synonyms

1200011C15Rik

MMRRC Submission

038835-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0650 (G1)

Quality Score

123

Status

Validated

Chromosome

Chromosomal Location

25501894-25515950 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25508683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 253 (V253A)

Ref Sequence

ENSEMBL: ENSMUSP00000041175 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043314] [ENSMUST00000108395] [ENSMUST00000156714]

AlphaFold

Q9DBX6

Predicted Effect

probably damaging
Transcript: ENSMUST00000043314
AA Change: V253A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041175
Gene: ENSMUSG00000040703
AA Change: V253A

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
Pfam:p450	34	493	6.4e-122	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000108395
AA Change: V253A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104032
Gene: ENSMUSG00000040703
AA Change: V253A

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
Pfam:p450	34	440	4e-108	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152560

Predicted Effect

probably benign
Transcript: ENSMUST00000156714

SMART Domains

Protein: ENSMUSP00000122264
Gene: ENSMUSG00000040703

Domain	Start	End	E-Value	Type
Pfam:p450	1	91	1.2e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206602

Meta Mutation Damage Score

0.7924

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.0%

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 protein localizes to the endoplasmic reticulum. In rodents, the homologous protein has been shown to metabolize certain carcinogens; however, the specific function of the human protein has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and appear normal in terms of body weight, growth rate, organ weight, and daily activity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N15Rik	A	G	X: 68,989,391 (GRCm39)	S96G	unknown	Het
4930447C04Rik	T	C	12: 72,956,830 (GRCm39)	D120G	probably damaging	Het
Actmap	A	T	7: 26,902,072 (GRCm39)	H233L	probably damaging	Het
Adgrg5	T	A	8: 95,660,785 (GRCm39)		probably null	Het
Afg3l2	G	T	18: 67,548,627 (GRCm39)	H534Q	possibly damaging	Het
Ankar	G	A	1: 72,695,380 (GRCm39)		probably benign	Het
Arid2	T	A	15: 96,299,930 (GRCm39)	F1814L	possibly damaging	Het
Asb15	C	T	6: 24,566,163 (GRCm39)	A372V	probably damaging	Het
Atg16l1	A	T	1: 87,709,421 (GRCm39)	D403V	possibly damaging	Het
Bnc2	T	C	4: 84,211,433 (GRCm39)	D407G	probably benign	Het
Ccdc121	T	C	5: 31,643,312 (GRCm39)		probably benign	Het
Cdan1	A	G	2: 120,556,526 (GRCm39)	V633A	probably benign	Het
Cfap46	T	C	7: 139,185,571 (GRCm39)	Y2482C	unknown	Het
Chd8	T	C	14: 52,439,761 (GRCm39)	E964G	probably benign	Het
Depdc1b	A	G	13: 108,460,443 (GRCm39)	N18D	probably damaging	Het
Fis1	T	A	5: 136,991,048 (GRCm39)	V4E	probably damaging	Het
Gba2	T	A	4: 43,570,424 (GRCm39)		probably null	Het
Gm2381	C	T	7: 42,469,504 (GRCm39)	G207R	probably damaging	Het
Gpr89	T	A	3: 96,804,640 (GRCm39)		probably benign	Het
Gtf2i	A	G	5: 134,290,691 (GRCm39)		probably benign	Het
Herc2	T	G	7: 55,762,958 (GRCm39)	S896A	probably damaging	Het
Huwe1	T	C	X: 150,659,309 (GRCm39)	S921P	probably damaging	Het
Iqgap1	T	A	7: 80,386,143 (GRCm39)	K936I	probably damaging	Het
Kcna4	T	A	2: 107,125,927 (GRCm39)	Y220*	probably null	Het
Krt18	A	G	15: 101,937,920 (GRCm39)	D139G	possibly damaging	Het
Krt87	T	C	15: 101,384,921 (GRCm39)	N392D	probably damaging	Het
L3mbtl4	G	A	17: 69,081,286 (GRCm39)	C558Y	probably damaging	Het
Lamc2	T	A	1: 153,019,622 (GRCm39)	I440F	possibly damaging	Het
Lrrc28	T	C	7: 67,267,833 (GRCm39)	N98S	probably damaging	Het
Lrrk1	G	A	7: 65,942,084 (GRCm39)	A718V	probably damaging	Het
Mrgprx2	T	C	7: 48,132,666 (GRCm39)	I51V	probably damaging	Het
Myt1	A	T	2: 181,424,408 (GRCm39)	R25*	probably null	Het
Npdc1	C	T	2: 25,298,021 (GRCm39)	T199I	probably benign	Het
Nup98	T	A	7: 101,801,660 (GRCm39)	Y755F	probably damaging	Het
Or51q1c	A	G	7: 103,652,446 (GRCm39)		probably null	Het
Or5p69	T	A	7: 107,966,996 (GRCm39)	C100S	probably damaging	Het
Or5p76	G	T	7: 108,122,289 (GRCm39)	N289K	probably damaging	Het
Or8g22	T	A	9: 38,957,996 (GRCm39)	M240L	probably benign	Het
Osgin1	A	T	8: 120,172,211 (GRCm39)	Y335F	probably damaging	Het
Pde10a	A	T	17: 9,161,797 (GRCm39)	I493F	probably damaging	Het
Pdgfrb	A	G	18: 61,212,780 (GRCm39)	I895V	probably benign	Het
Peg10	T	TCCCCANNANNNN	6: 4,756,475 (GRCm39)		probably benign	Het
Pidd1	A	T	7: 141,020,726 (GRCm39)	L457*	probably null	Het
Pik3c2a	A	G	7: 115,945,482 (GRCm39)		probably benign	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Plcg1	C	T	2: 160,595,283 (GRCm39)		probably benign	Het
Prr13	A	C	15: 102,370,650 (GRCm39)	*138C	probably null	Het
Prrc2b	T	C	2: 32,119,267 (GRCm39)		probably benign	Het
Psph	T	C	5: 129,868,633 (GRCm39)		probably benign	Het
Ripor1	A	G	8: 106,344,746 (GRCm39)		probably benign	Het
Scg3	A	G	9: 75,576,617 (GRCm39)	S253P	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Sgk1	A	G	10: 21,758,556 (GRCm39)	N7D	probably damaging	Het
Skor2	T	C	18: 76,964,255 (GRCm39)	F940L	probably benign	Het
Slbp	T	C	5: 33,802,833 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Susd5	A	T	9: 113,911,603 (GRCm39)	H171L	possibly damaging	Het
Sybu	T	C	15: 44,536,664 (GRCm39)	E354G	probably benign	Het
Synpo	T	C	18: 60,735,412 (GRCm39)	N845D	possibly damaging	Het
Tdrd6	A	T	17: 43,939,050 (GRCm39)	I666N	probably damaging	Het
Tm9sf4	T	C	2: 153,029,285 (GRCm39)	I111T	probably benign	Het
Tnc	T	C	4: 63,926,971 (GRCm39)	T852A	probably benign	Het
Tnfrsf10b	T	A	14: 70,013,625 (GRCm39)	I185K	probably damaging	Het
Tnks1bp1	A	G	2: 84,892,974 (GRCm39)	E305G	possibly damaging	Het
Tnrc6b	T	C	15: 80,668,959 (GRCm39)	V22A	probably benign	Het
Ttn	A	T	2: 76,598,956 (GRCm39)	F19319Y	probably damaging	Het
Ubr5	T	C	15: 38,031,051 (GRCm39)		probably benign	Het
Ugt2b5	T	A	5: 87,287,627 (GRCm39)	Q191L	probably benign	Het
Urod	T	C	4: 116,848,473 (GRCm39)	T300A	probably benign	Het
Vmn1r213	A	G	13: 23,195,564 (GRCm39)		probably benign	Het
Znfx1	G	A	2: 166,889,574 (GRCm39)	Q723*	probably null	Het

Other mutations in Cyp2s1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00096:Cyp2s1	APN	7	25,508,683 (GRCm39)	missense	probably damaging	1.00
IGL02415:Cyp2s1	APN	7	25,507,562 (GRCm39)	missense	probably damaging	1.00
IGL02530:Cyp2s1	APN	7	25,515,849 (GRCm39)	unclassified	probably benign
IGL02927:Cyp2s1	APN	7	25,507,577 (GRCm39)	missense	probably benign	0.17
IGL03358:Cyp2s1	APN	7	25,507,573 (GRCm39)	missense	probably damaging	1.00
R0139:Cyp2s1	UTSW	7	25,511,114 (GRCm39)	splice site	probably null
R0523:Cyp2s1	UTSW	7	25,505,475 (GRCm39)	missense	probably damaging	1.00
R0652:Cyp2s1	UTSW	7	25,508,683 (GRCm39)	missense	probably damaging	1.00
R0723:Cyp2s1	UTSW	7	25,508,973 (GRCm39)	missense	probably benign	0.01
R1086:Cyp2s1	UTSW	7	25,505,422 (GRCm39)	missense	probably damaging	1.00
R3732:Cyp2s1	UTSW	7	25,503,379 (GRCm39)	missense	probably null	0.08
R3732:Cyp2s1	UTSW	7	25,503,379 (GRCm39)	missense	probably null	0.08
R3733:Cyp2s1	UTSW	7	25,503,379 (GRCm39)	missense	probably null	0.08
R3813:Cyp2s1	UTSW	7	25,505,291 (GRCm39)	splice site	probably null
R3958:Cyp2s1	UTSW	7	25,503,379 (GRCm39)	missense	probably null	0.08
R4593:Cyp2s1	UTSW	7	25,515,867 (GRCm39)	unclassified	probably benign
R4965:Cyp2s1	UTSW	7	25,508,710 (GRCm39)	missense	possibly damaging	0.85
R5278:Cyp2s1	UTSW	7	25,505,309 (GRCm39)	missense	possibly damaging	0.95
R5642:Cyp2s1	UTSW	7	25,515,744 (GRCm39)	splice site	probably null
R6258:Cyp2s1	UTSW	7	25,515,867 (GRCm39)	unclassified	probably benign
R6628:Cyp2s1	UTSW	7	25,514,466 (GRCm39)	missense	probably benign	0.02
R6762:Cyp2s1	UTSW	7	25,507,495 (GRCm39)	missense	probably damaging	1.00
R7367:Cyp2s1	UTSW	7	25,505,398 (GRCm39)	missense	possibly damaging	0.90
R8145:Cyp2s1	UTSW	7	25,507,467 (GRCm39)	critical splice donor site	probably null
R8275:Cyp2s1	UTSW	7	25,508,735 (GRCm39)	missense	probably benign	0.10
R9733:Cyp2s1	UTSW	7	25,507,529 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTCGCAGTCCGTAAAGAACAG -3'
(R):5'- AGCCTTCTCAAGCCTCGAAACTTC -3'

Sequencing Primer
(F):5'- TCAAGAAGGGATGGTCTCCTC -3'
(R):5'- AAGCCTCGAAACTTCCTGTC -3'

Posted On

2013-07-30