Incidental Mutation 'R4593:Cyp2s1'
ID 344212
Institutional Source Beutler Lab
Gene Symbol Cyp2s1
Ensembl Gene ENSMUSG00000040703
Gene Name cytochrome P450, family 2, subfamily s, polypeptide 1
Synonyms 1200011C15Rik
MMRRC Submission 041809-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4593 (G1)
Quality Score 161
Status Not validated
Chromosome 7
Chromosomal Location 25501894-25515950 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) ACAGCAGCAGCAGCAGCAGCAGCAG to ACAGCAGCAGCAGCAGCAGCAG at 25515867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043314] [ENSMUST00000108395] [ENSMUST00000156714]
AlphaFold Q9DBX6
Predicted Effect probably benign
Transcript: ENSMUST00000043314
SMART Domains Protein: ENSMUSP00000041175
Gene: ENSMUSG00000040703

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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:p450 1 91 1.2e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181552
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 96% (45/47)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Aopep T C 13: 63,215,906 (GRCm39) S393P probably benign Het
Atm G T 9: 53,364,894 (GRCm39) A8E possibly damaging Het
Atxn3 A T 12: 101,889,436 (GRCm39) M333K probably benign Het
Cd86 A G 16: 36,426,918 (GRCm39) *310R probably null Het
Dgat1 C A 15: 76,388,889 (GRCm39) R111S probably damaging Het
Dner T C 1: 84,673,449 (GRCm39) M1V probably null Het
Dnhd1 G A 7: 105,364,653 (GRCm39) D4240N probably benign Het
Emp3 A G 7: 45,568,777 (GRCm39) L27P probably damaging Het
Glra3 G T 8: 56,393,916 (GRCm39) G9V probably damaging Het
Gpr149 A T 3: 62,510,151 (GRCm39) probably benign Het
Ighv1-9 T C 12: 114,547,224 (GRCm39) T105A probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Ldhd T C 8: 112,355,996 (GRCm39) D129G probably damaging Het
Lnpep A G 17: 17,799,289 (GRCm39) V122A probably benign Het
Lrrc37a A G 11: 103,389,795 (GRCm39) Y1877H possibly damaging Het
Med13l T C 5: 118,880,625 (GRCm39) L1239P probably damaging Het
Mib1 T C 18: 10,768,191 (GRCm39) L480S possibly damaging Het
Mkrn3 C T 7: 62,068,552 (GRCm39) W413* probably null Het
Myo7b A G 18: 32,146,428 (GRCm39) V119A possibly damaging Het
Nexn T A 3: 151,958,553 (GRCm39) R113S probably damaging Het
Npas3 A T 12: 54,115,280 (GRCm39) Q703L probably benign Het
Npr2 A G 4: 43,647,323 (GRCm39) probably benign Het
Nub1 A G 5: 24,914,119 (GRCm39) Y624C probably damaging Het
Obscn A C 11: 59,024,075 (GRCm39) S532A probably damaging Het
Or1e33 T A 11: 73,738,140 (GRCm39) K270N probably benign Het
Or9g20 A G 2: 85,630,008 (GRCm39) L202P probably damaging Het
Panx2 T C 15: 88,952,118 (GRCm39) I195T probably damaging Het
Parp11 T C 6: 127,451,262 (GRCm39) I104T probably benign Het
Pkd1l1 G T 11: 8,851,253 (GRCm39) D726E probably damaging Het
Pom121l2 C T 13: 22,168,623 (GRCm39) R965W probably damaging Het
Prrc2c T C 1: 162,525,101 (GRCm39) K502E probably damaging Het
Rasa1 T C 13: 85,386,340 (GRCm39) probably null Het
Sva T C 6: 42,019,592 (GRCm39) S151P possibly damaging Het
Svep1 T C 4: 58,091,944 (GRCm39) N1564D possibly damaging Het
Unk T C 11: 115,939,882 (GRCm39) I129T probably benign Het
Urb1 T C 16: 90,584,332 (GRCm39) D550G probably damaging Het
Vmn1r194 T A 13: 22,428,461 (GRCm39) M26K possibly damaging Het
Vmn1r59 A T 7: 5,457,686 (GRCm39) F25I possibly damaging Het
Vmn1r88 A G 7: 12,911,769 (GRCm39) K42E probably damaging Het
Zbtb24 A G 10: 41,327,953 (GRCm39) R280G possibly damaging 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
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'- TCTGGCACTTAGAAGGCTCC -3'
(R):5'- GATACATTCGCGCGATGGTG -3'

Sequencing Primer
(F):5'- ACATCCCCTGGTTAGGA -3'
(R):5'- CGCGATGGTGTGAGACTTC -3'
Posted On 2015-09-25