Incidental Mutation 'R6762:Cyp2s1'
ID 531740
Institutional Source Beutler Lab
Gene Symbol Cyp2s1
Ensembl Gene ENSMUSG00000040703
Gene Name cytochrome P450, family 2, subfamily s, polypeptide 1
Synonyms 1200011C15Rik
MMRRC Submission 044878-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6762 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 25501894-25515950 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 25507495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 318 (L318H)
Ref Sequence ENSEMBL: ENSMUSP00000104032 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043314] [ENSMUST00000108395] [ENSMUST00000156714]
AlphaFold Q9DBX6
Predicted Effect probably damaging
Transcript: ENSMUST00000043314
AA Change: L318H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041175
Gene: ENSMUSG00000040703
AA Change: L318H

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:p450 34 493 6.4e-122 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108395
AA Change: L318H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104032
Gene: ENSMUSG00000040703
AA Change: L318H

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:p450 34 440 4e-108 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156714
SMART Domains Protein: ENSMUSP00000122264
Gene: ENSMUSG00000040703

DomainStartEndE-ValueType
Pfam:p450 1 91 1.2e-13 PFAM
Meta Mutation Damage Score 0.8460 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency 100% (45/45)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr4 A G 9: 103,976,867 (GRCm39) Y27H probably benign Het
Angptl3 T A 4: 98,925,654 (GRCm39) S327T possibly damaging Het
Arl6ip4 GGAAGAAGAAGAAGAAGAA GGAAGAAGAAGAAGAAGAAGAA 5: 124,255,113 (GRCm39) probably benign Het
Dnah14 T C 1: 181,584,824 (GRCm39) L3185P probably damaging Het
Dnah7b T C 1: 46,263,902 (GRCm39) V2128A probably benign Het
Ehhadh A T 16: 21,581,209 (GRCm39) F594L probably benign Het
En2 A G 5: 28,375,351 (GRCm39) N298S possibly damaging Het
Epha5 T A 5: 84,479,585 (GRCm39) N140Y probably damaging Het
Fam151b C T 13: 92,604,558 (GRCm39) V144I possibly damaging Het
Fanca C A 8: 123,998,042 (GRCm39) A1215S probably benign Het
Fancd2 T A 6: 113,562,977 (GRCm39) probably null Het
Fat2 T C 11: 55,144,308 (GRCm39) probably null Het
Gm4513 T C 7: 20,328,118 (GRCm39) N31S probably benign Het
Hspg2 A T 4: 137,279,114 (GRCm39) I3066F possibly damaging Het
Krt10 T C 11: 99,277,883 (GRCm39) T355A possibly damaging Het
Lims1 C A 10: 58,248,367 (GRCm39) H275N probably damaging Het
Map3k19 C T 1: 127,775,001 (GRCm39) G112D probably damaging Het
Mdn1 T A 4: 32,676,786 (GRCm39) N619K possibly damaging Het
Mtor A G 4: 148,622,938 (GRCm39) T1977A possibly damaging Het
Nos2 T G 11: 78,850,574 (GRCm39) L1144R possibly damaging Het
Or52ae7 G C 7: 103,119,596 (GRCm39) V117L probably benign Het
Or6c68 G A 10: 129,158,125 (GRCm39) C211Y probably damaging Het
Or8k38 A T 2: 86,488,188 (GRCm39) F205I probably benign Het
Pals2 T A 6: 50,157,418 (GRCm39) probably null Het
Pcdhga9 C A 18: 37,870,321 (GRCm39) S50Y probably damaging Het
Pfn4 T A 12: 4,825,487 (GRCm39) M108K probably damaging Het
Prep T C 10: 45,024,219 (GRCm39) probably null Het
Qtrt1 T A 9: 21,323,378 (GRCm39) H76Q probably damaging Het
Rpa1 T A 11: 75,231,171 (GRCm39) S73C possibly damaging Het
Senp5 A G 16: 31,808,702 (GRCm39) V157A probably damaging Het
Snapc3 T C 4: 83,353,495 (GRCm39) L178P probably damaging Het
Sptbn4 A G 7: 27,093,633 (GRCm39) F1340L probably damaging Het
Srd5a3 T A 5: 76,301,398 (GRCm39) I85K probably benign Het
Taar2 C T 10: 23,817,300 (GRCm39) T280M probably damaging Het
Tgfb3 T C 12: 86,116,237 (GRCm39) D177G probably benign Het
Tpt1 A G 14: 76,083,821 (GRCm39) D94G probably benign Het
Trpm4 A G 7: 44,954,240 (GRCm39) probably benign Het
Trpv4 C T 5: 114,763,171 (GRCm39) R746H probably benign Het
Txndc2 T C 17: 65,945,967 (GRCm39) D70G probably damaging Het
Ugcg T A 4: 59,219,530 (GRCm39) I289N possibly damaging Het
Vmn2r2 C G 3: 64,041,870 (GRCm39) D282H probably damaging Het
Vmn2r50 A T 7: 9,787,010 (GRCm39) N32K probably benign Het
Wdpcp C T 11: 21,671,244 (GRCm39) T495I probably benign Het
Zfp961 T A 8: 72,719,958 (GRCm39) C51S possibly damaging Het
Zxdc C T 6: 90,359,165 (GRCm39) A599V probably benign Het
Other mutations in Cyp2s1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CGTCTTGCACTGTGATCAGAAG -3'
(R):5'- TGGGAGTAATGACCAATGGC -3'

Sequencing Primer
(F):5'- TCAGAAGTTCTGGAAGCCCTGAC -3'
(R):5'- AATGTCTGTGACTTCAAGGCCAG -3'
Posted On 2018-08-29