Mutagenetix > Incidental Mutation

Incidental Mutation 'R3732:Cyp2s1'

500787

Institutional Source

Beutler Lab

Gene Symbol

Cyp2s1

Ensembl Gene

ENSMUSG00000040703

Gene Name

cytochrome P450, family 2, subfamily s, polypeptide 1

Synonyms

1200011C15Rik

MMRRC Submission

040720-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3732 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25501894-25515950 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25503379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 424 (R424Q)

Ref Sequence

ENSEMBL: ENSMUSP00000041175 (fasta)

Gene Model

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

AlphaFold

Q9DBX6

Predicted Effect

probably null
Transcript: ENSMUST00000043314
AA Change: R424Q

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000041175
Gene: ENSMUSG00000040703
AA Change: R424Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000108395
AA Change: R424Q

PolyPhen 2 Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104032
Gene: ENSMUSG00000040703
AA Change: R424Q

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

Meta Mutation Damage Score

0.1058

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

93% (56/60)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Aacs	C	T	5: 125,583,326 (GRCm39)	T294M	probably damaging	Het
Ablim1	A	T	19: 57,037,892 (GRCm39)		probably null	Het
Adgrf4	C	T	17: 42,983,472 (GRCm39)	G70E	probably damaging	Het
Adgrl3	C	A	5: 81,942,793 (GRCm39)	H1474Q	probably benign	Het
Adgrv1	T	C	13: 81,705,075 (GRCm39)	I1578M	probably damaging	Het
Afg3l1	G	A	8: 124,227,972 (GRCm39)	G547D	probably damaging	Het
Ambra1	G	A	2: 91,640,476 (GRCm39)	R635H	probably damaging	Het
Araf	TACACACACACACACACA	TACACACACACACACA	X: 20,716,465 (GRCm39)		probably benign	Het
Arhgef10l	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	4: 140,308,930 (GRCm39)		probably benign	Het
Bcl7b	A	G	5: 135,209,767 (GRCm39)	T141A	probably benign	Het
Calm5	T	A	13: 3,904,337 (GRCm39)	N10K	probably damaging	Het
Camsap1	T	C	2: 25,828,356 (GRCm39)	R1123G	probably damaging	Het
Cfap97d1	C	T	11: 101,879,278 (GRCm39)	Q17*	probably null	Het
Chrna3	T	C	9: 54,923,178 (GRCm39)	K210R	probably benign	Het
Ciz1	A	G	2: 32,257,495 (GRCm39)	N180S	possibly damaging	Het
Cntnap3	G	A	13: 64,888,813 (GRCm39)	A1162V	possibly damaging	Het
Cox5b	C	T	1: 36,732,341 (GRCm39)	P114L	probably damaging	Het
Cpsf2	T	C	12: 101,953,567 (GRCm39)	I199T	probably damaging	Het
Cyp2a4	A	G	7: 26,012,252 (GRCm39)	D345G	probably damaging	Het
D1Pas1	C	A	1: 186,700,294 (GRCm39)	S74R	probably benign	Het
Ddx4	T	A	13: 112,748,516 (GRCm39)	I487F	possibly damaging	Het
Dnah5	A	T	15: 28,409,268 (GRCm39)	E3562V	possibly damaging	Het
Dpf3	T	C	12: 83,316,281 (GRCm39)	D330G	possibly damaging	Het
Edem1	T	C	6: 108,818,582 (GRCm39)	F197L	probably damaging	Het
Eeig1	G	A	2: 32,456,304 (GRCm39)	S322N	probably benign	Het
Ergic2	T	C	6: 148,104,020 (GRCm39)	D79G	probably damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fam111a	T	C	19: 12,564,914 (GRCm39)	L221P	possibly damaging	Het
Fat1	T	C	8: 45,406,306 (GRCm39)	V1019A	possibly damaging	Het
Fbxl21	T	A	13: 56,674,830 (GRCm39)	H60Q	probably benign	Het
Fbxw7	A	C	3: 84,833,014 (GRCm39)	K19Q	possibly damaging	Het
Gldn	A	G	9: 54,245,946 (GRCm39)	K499R	possibly damaging	Het
Gria4	C	T	9: 4,513,295 (GRCm39)	M271I	probably benign	Het
Herc1	C	T	9: 66,352,922 (GRCm39)	T2136I	probably damaging	Het
Igsf10	A	G	3: 59,233,135 (GRCm39)	F1866S	probably benign	Het
Iqcg	G	T	16: 32,873,996 (GRCm39)		probably benign	Het
Itih2	A	T	2: 10,110,481 (GRCm39)	F537I	probably benign	Het
Itpr2	T	C	6: 146,284,198 (GRCm39)	D533G	probably damaging	Het
Kcnk15	A	G	2: 163,695,733 (GRCm39)	K22E	probably benign	Het
Lag3	A	T	6: 124,887,103 (GRCm39)	S155T	probably benign	Het
Lars1	T	C	18: 42,345,667 (GRCm39)	E1003G	probably benign	Het
Layn	T	A	9: 50,970,844 (GRCm39)	N233I	probably damaging	Het
Ldhb-ps	T	G	19: 21,915,616 (GRCm39)		noncoding transcript	Het
Lgi1	T	C	19: 38,294,694 (GRCm39)	Y465H	probably damaging	Het
Lrig1	C	T	6: 94,588,557 (GRCm39)	A531T	possibly damaging	Het
Lrrtm4	A	G	6: 79,996,638 (GRCm39)		probably benign	Het
Lsamp	T	A	16: 41,964,935 (GRCm39)	L264H	probably damaging	Het
Mthfd2	T	C	6: 83,290,457 (GRCm39)	E39G	probably damaging	Het
Mtx2	C	A	2: 74,677,606 (GRCm39)	A22E	probably damaging	Het
Nipal3	T	C	4: 135,191,157 (GRCm39)	T325A	probably damaging	Het
Nlrp14	A	T	7: 106,781,574 (GRCm39)	Y257F	probably benign	Het
Ola1	G	C	2: 72,987,204 (GRCm39)	R143G	probably damaging	Het
Or14c44	T	G	7: 86,061,841 (GRCm39)	I90M	probably damaging	Het
Otog	A	G	7: 45,937,792 (GRCm39)	T1834A	probably benign	Het
Oxr1	T	C	15: 41,712,097 (GRCm39)	I656T	probably damaging	Het
Panx1	GTTCTTCT	GTTCT	9: 14,917,467 (GRCm39)		probably benign	Het
Pcdh18	T	C	3: 49,709,240 (GRCm39)	S692G	probably benign	Het
Pcdhga1	A	G	18: 37,797,176 (GRCm39)	T727A	probably benign	Het
Pde9a	A	G	17: 31,667,401 (GRCm39)	E3G	possibly damaging	Het
Prl8a1	T	C	13: 27,763,716 (GRCm39)	E37G	probably damaging	Het
Rlf	C	T	4: 121,005,521 (GRCm39)	G1153D	probably benign	Het
Robo2	A	C	16: 73,717,635 (GRCm39)	L1159W	possibly damaging	Het
Sfxn5	T	C	6: 85,276,258 (GRCm39)		probably benign	Het
Siah2	A	G	3: 58,583,671 (GRCm39)	V205A	probably damaging	Het
Spindoc	A	C	19: 7,351,666 (GRCm39)	L202R	probably damaging	Het
Spock3	T	A	8: 63,798,733 (GRCm39)	D251E	probably damaging	Het
Srp68	T	A	11: 116,164,782 (GRCm39)	K51*	probably null	Het
Ssbp2	T	C	13: 91,672,726 (GRCm39)	Y29H	probably damaging	Het
Sspo	T	C	6: 48,426,864 (GRCm39)	V231A	probably damaging	Het
Stk4	T	A	2: 163,930,828 (GRCm39)	M143K	probably benign	Het
Tecta	C	T	9: 42,303,402 (GRCm39)	V77M	possibly damaging	Het
Trpc3	A	T	3: 36,692,708 (GRCm39)	D761E	probably benign	Het
Tubb2a	T	C	13: 34,259,247 (GRCm39)	E181G	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ush2a	C	A	1: 188,676,957 (GRCm39)	N4756K	probably benign	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Wapl	G	A	14: 34,458,721 (GRCm39)	V928I	probably damaging	Het
Zfand3	A	G	17: 30,411,630 (GRCm39)	K130R	probably benign	Het
Zfp934	A	T	13: 62,665,599 (GRCm39)	H347Q	probably damaging	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
R0650:Cyp2s1	UTSW	7	25,508,683 (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
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

Posted On

2017-12-01