Incidental Mutation 'R5642:Cyp2s1'
ID 440746
Institutional Source Beutler Lab
Gene Symbol Cyp2s1
Ensembl Gene ENSMUSG00000040703
Gene Name cytochrome P450, family 2, subfamily s, polypeptide 1
Synonyms 1200011C15Rik
MMRRC Submission 043290-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5642 (G1)
Quality Score 197
Status Not validated
Chromosome 7
Chromosomal Location 25802475-25816913 bp(-) (GRCm38)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) T to C at 25816319 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104032 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043314] [ENSMUST00000108395] [ENSMUST00000156714]
AlphaFold Q9DBX6
Predicted Effect probably null
Transcript: ENSMUST00000043314
SMART Domains Protein: ENSMUSP00000041175
Gene: ENSMUSG00000040703

signal peptide 1 31 N/A INTRINSIC
Pfam:p450 34 493 6.4e-122 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000108395
SMART Domains Protein: ENSMUSP00000104032
Gene: ENSMUSG00000040703

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

Pfam:p450 1 91 1.2e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181552
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik T C 4: 42,971,831 (GRCm38) L388P possibly damaging Het
4930432K21Rik C T 8: 84,167,485 (GRCm38) T427I probably damaging Het
4932415D10Rik T A 10: 82,284,483 (GRCm38) Q4231L probably damaging Het
Abcc1 A G 16: 14,443,455 (GRCm38) E699G probably damaging Het
Ap4e1 T A 2: 127,064,979 (GRCm38) V1053D possibly damaging Het
Apobec1 T A 6: 122,581,497 (GRCm38) I100F probably damaging Het
Atp6v1g3 G T 1: 138,283,742 (GRCm38) K53N probably damaging Het
Bag3 C T 7: 128,546,106 (GRCm38) R482W probably damaging Het
Cacna1i A G 15: 80,395,078 (GRCm38) T2007A possibly damaging Het
Cd44 T C 2: 102,901,342 (GRCm38) D2G probably damaging Het
Cdadc1 T A 14: 59,589,923 (GRCm38) I100F possibly damaging Het
Cdh16 A G 8: 104,618,045 (GRCm38) F485L probably damaging Het
Cdhr5 T A 7: 141,269,197 (GRCm38) K817* probably null Het
Cfap46 G T 7: 139,678,577 (GRCm38) P260Q probably damaging Het
Clec11a C T 7: 44,306,408 (GRCm38) E72K possibly damaging Het
Cnr2 C A 4: 135,916,765 (GRCm38) N51K probably damaging Het
Col3a1 T A 1: 45,331,712 (GRCm38) probably benign Het
Cxcr1 G A 1: 74,191,828 (GRCm38) T345M probably damaging Het
Dalrd3 C T 9: 108,572,290 (GRCm38) T474M probably damaging Het
Ddit4 C T 10: 59,951,505 (GRCm38) S3N probably benign Het
Ddx41 T C 13: 55,535,895 (GRCm38) K108E possibly damaging Het
Ece2 A T 16: 20,643,727 (GRCm38) H732L probably benign Het
Etv3 T G 3: 87,536,015 (GRCm38) L302R possibly damaging Het
Fam135b A G 15: 71,462,136 (GRCm38) S1070P probably damaging Het
Fam160a2 A T 7: 105,389,882 (GRCm38) I50N probably damaging Het
Gm11567 T A 11: 99,879,611 (GRCm38) I125N unknown Het
Grm3 A G 5: 9,570,536 (GRCm38) L236P probably benign Het
Hip1 T A 5: 135,433,085 (GRCm38) R97* probably null Het
Hoxa5 T C 6: 52,204,217 (GRCm38) Y45C probably damaging Het
Ighg1 T A 12: 113,329,034 (GRCm38) H305L probably damaging Het
Inpp5b T A 4: 124,782,436 (GRCm38) C362S probably benign Het
Kif1c A G 11: 70,708,447 (GRCm38) K391E probably benign Het
Klf9 T C 19: 23,141,882 (GRCm38) V43A probably benign Het
Krt28 T A 11: 99,374,494 (GRCm38) I116F probably damaging Het
Lct A T 1: 128,295,232 (GRCm38) D1439E probably damaging Het
Liph G A 16: 21,965,995 (GRCm38) T284M possibly damaging Het
Lrrc75b T C 10: 75,557,221 (GRCm38) K98R possibly damaging Het
Lypd4 T C 7: 24,865,179 (GRCm38) Q178R probably benign Het
Map1a T A 2: 121,306,043 (GRCm38) S2209T probably damaging Het
Map3k21 C T 8: 125,938,824 (GRCm38) T584I probably benign Het
Map3k6 T C 4: 133,245,544 (GRCm38) V338A probably damaging Het
Mapk8ip3 A T 17: 24,903,311 (GRCm38) V699E possibly damaging Het
Marc1 A C 1: 184,810,919 (GRCm38) S71A probably damaging Het
Nckap1l T C 15: 103,455,025 (GRCm38) S53P probably benign Het
Nt5e T C 9: 88,327,687 (GRCm38) M1T probably null Het
Nudt22 T C 19: 6,995,528 (GRCm38) H64R probably damaging Het
Olfr1048 T C 2: 86,235,932 (GRCm38) N294S probably damaging Het
Olfr108 A T 17: 37,445,772 (GRCm38) T84S probably damaging Het
Olfr198 A G 16: 59,202,006 (GRCm38) L140P probably damaging Het
Olfr314 A T 11: 58,786,828 (GRCm38) Y198F probably damaging Het
Olfr322 T C 11: 58,666,399 (GRCm38) I280T possibly damaging Het
Olfr690 A T 7: 105,329,565 (GRCm38) V209D probably damaging Het
Otogl T C 10: 107,886,552 (GRCm38) I314V probably benign Het
Pan2 G T 10: 128,308,100 (GRCm38) E106D probably benign Het
Papss1 T A 3: 131,631,804 (GRCm38) Y554* probably null Het
Pcnx T C 12: 81,895,029 (GRCm38) V67A possibly damaging Het
Pdpk1 A C 17: 24,106,855 (GRCm38) Y122* probably null Het
Pkd1l1 A T 11: 8,879,202 (GRCm38) N1463K probably damaging Het
Ptgfrn C A 3: 101,043,362 (GRCm38) M878I probably damaging Het
Ranbp3 G A 17: 56,710,703 (GRCm38) G453E probably benign Het
Rapgef2 T C 3: 79,094,850 (GRCm38) D261G probably damaging Het
Reep2 A G 18: 34,846,218 (GRCm38) S199G probably benign Het
Rnpep G A 1: 135,277,521 (GRCm38) T202I probably damaging Het
Sass6 T A 3: 116,607,496 (GRCm38) probably null Het
Sema3e A G 5: 14,162,243 (GRCm38) D111G probably damaging Het
Slc29a4 A G 5: 142,711,972 (GRCm38) E60G probably damaging Het
Sptlc3 T C 2: 139,546,408 (GRCm38) Y107H probably damaging Het
Stx6 T C 1: 155,198,179 (GRCm38) I245T probably benign Het
Syne2 T C 12: 75,918,532 (GRCm38) S774P probably damaging Het
Tbc1d16 T A 11: 119,158,791 (GRCm38) Q293L probably damaging Het
Tbc1d30 T C 10: 121,296,787 (GRCm38) D224G probably damaging Het
Tbc1d32 T A 10: 56,150,877 (GRCm38) N759Y possibly damaging Het
Tdrd12 G T 7: 35,511,300 (GRCm38) A166E probably damaging Het
Tex14 A G 11: 87,514,220 (GRCm38) R653G probably benign Het
Them6 A T 15: 74,721,805 (GRCm38) R171W probably null Het
Tln2 T C 9: 67,296,358 (GRCm38) T489A probably benign Het
Tmem87a A G 2: 120,403,946 (GRCm38) F39L probably benign Het
Toporsl T A 4: 52,611,515 (GRCm38) C469* probably null Het
Tpr T C 1: 150,423,818 (GRCm38) S1147P probably damaging Het
Trp53bp1 T C 2: 121,236,662 (GRCm38) M528V probably benign Het
Trpm6 T A 19: 18,830,207 (GRCm38) C1039S probably damaging Het
Ttc16 T A 2: 32,775,336 (GRCm38) S5C probably damaging Het
Ttn T C 2: 76,787,068 (GRCm38) Y14607C probably damaging Het
Usp6nl T C 2: 6,430,464 (GRCm38) F345L probably damaging Het
Vmn1r205 C T 13: 22,592,036 (GRCm38) G299R probably benign Het
Vmn2r74 G A 7: 85,957,380 (GRCm38) H253Y probably benign Het
Vps13d A T 4: 145,170,302 (GRCm38) D343E possibly damaging Het
Vwf A G 6: 125,603,418 (GRCm38) E543G Het
Wdr92 A G 11: 17,227,263 (GRCm38) N207S possibly damaging Het
Zfat A T 15: 68,180,916 (GRCm38) V343E probably damaging Het
Zfp316 T C 5: 143,264,091 (GRCm38) E139G unknown Het
Zfp943 T A 17: 21,992,832 (GRCm38) C300S probably damaging Het
Zkscan16 A G 4: 58,957,748 (GRCm38) K677E probably benign Het
Other mutations in Cyp2s1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00096:Cyp2s1 APN 7 25,809,258 (GRCm38) missense probably damaging 1.00
IGL02415:Cyp2s1 APN 7 25,808,137 (GRCm38) missense probably damaging 1.00
IGL02530:Cyp2s1 APN 7 25,816,424 (GRCm38) unclassified probably benign
IGL02927:Cyp2s1 APN 7 25,808,152 (GRCm38) missense probably benign 0.17
IGL03358:Cyp2s1 APN 7 25,808,148 (GRCm38) missense probably damaging 1.00
R0139:Cyp2s1 UTSW 7 25,811,689 (GRCm38) splice site probably null
R0523:Cyp2s1 UTSW 7 25,806,050 (GRCm38) missense probably damaging 1.00
R0650:Cyp2s1 UTSW 7 25,809,258 (GRCm38) missense probably damaging 1.00
R0652:Cyp2s1 UTSW 7 25,809,258 (GRCm38) missense probably damaging 1.00
R0723:Cyp2s1 UTSW 7 25,809,548 (GRCm38) missense probably benign 0.01
R1086:Cyp2s1 UTSW 7 25,805,997 (GRCm38) missense probably damaging 1.00
R3732:Cyp2s1 UTSW 7 25,803,954 (GRCm38) missense probably null 0.08
R3732:Cyp2s1 UTSW 7 25,803,954 (GRCm38) missense probably null 0.08
R3733:Cyp2s1 UTSW 7 25,803,954 (GRCm38) missense probably null 0.08
R3813:Cyp2s1 UTSW 7 25,805,866 (GRCm38) splice site probably null
R3958:Cyp2s1 UTSW 7 25,803,954 (GRCm38) missense probably null 0.08
R4593:Cyp2s1 UTSW 7 25,816,442 (GRCm38) unclassified probably benign
R4965:Cyp2s1 UTSW 7 25,809,285 (GRCm38) missense possibly damaging 0.85
R5278:Cyp2s1 UTSW 7 25,805,884 (GRCm38) missense possibly damaging 0.95
R6258:Cyp2s1 UTSW 7 25,816,442 (GRCm38) unclassified probably benign
R6628:Cyp2s1 UTSW 7 25,815,041 (GRCm38) missense probably benign 0.02
R6762:Cyp2s1 UTSW 7 25,808,070 (GRCm38) missense probably damaging 1.00
R7367:Cyp2s1 UTSW 7 25,805,973 (GRCm38) missense possibly damaging 0.90
R8145:Cyp2s1 UTSW 7 25,808,042 (GRCm38) critical splice donor site probably null
R8275:Cyp2s1 UTSW 7 25,809,310 (GRCm38) missense probably benign 0.10
R9733:Cyp2s1 UTSW 7 25,808,104 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-11-08