Incidental Mutation 'R0309:Cyp2c70'
ID 25172
Institutional Source Beutler Lab
Gene Symbol Cyp2c70
Ensembl Gene ENSMUSG00000060613
Gene Name cytochrome P450, family 2, subfamily c, polypeptide 70
Synonyms
MMRRC Submission 038519-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # R0309 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 40141805-40175730 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 40149115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 344 (M344L)
Ref Sequence ENSEMBL: ENSMUSP00000060584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051846] [ENSMUST00000165102] [ENSMUST00000171604]
AlphaFold Q91W64
Predicted Effect possibly damaging
Transcript: ENSMUST00000051846
AA Change: M344L

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000060584
Gene: ENSMUSG00000060613
AA Change: M344L

DomainStartEndE-ValueType
Pfam:p450 30 486 2.1e-158 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165102
SMART Domains Protein: ENSMUSP00000128691
Gene: ENSMUSG00000060613

DomainStartEndE-ValueType
PDB:4GQS|D 25 54 4e-12 PDB
SCOP:d1cpt__ 26 54 7e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171604
SMART Domains Protein: ENSMUSP00000129063
Gene: ENSMUSG00000060613

DomainStartEndE-ValueType
PDB:4GQS|D 25 50 4e-10 PDB
SCOP:d1cpt__ 26 54 2e-7 SMART
Meta Mutation Damage Score 0.3042 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.6%
  • 10x: 94.3%
  • 20x: 86.4%
Validation Efficiency 98% (125/127)
Allele List at MGI
Other mutations in this stock
Total: 126 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T C 2: 35,266,271 (GRCm39) D133G possibly damaging Het
Abcb4 A C 5: 8,989,835 (GRCm39) D796A probably damaging Het
Actg2 A T 6: 83,496,896 (GRCm39) V147E probably damaging Het
Adamts13 A C 2: 26,877,001 (GRCm39) T534P probably damaging Het
Ago1 T C 4: 126,336,959 (GRCm39) T249A probably benign Het
Ahnak T A 19: 8,979,859 (GRCm39) I381N probably damaging Het
Akap9 A G 5: 4,119,038 (GRCm39) D3515G probably benign Het
Angptl3 T C 4: 98,922,706 (GRCm39) V249A probably benign Het
Ank A G 15: 27,567,658 (GRCm39) T294A possibly damaging Het
Ank1 A T 8: 23,594,825 (GRCm39) H204L probably damaging Het
Apbb2 A G 5: 66,468,331 (GRCm39) probably benign Het
Arhgap28 A T 17: 68,208,424 (GRCm39) S15T probably benign Het
Aspm T C 1: 139,410,249 (GRCm39) probably benign Het
Atp1a4 T C 1: 172,062,554 (GRCm39) E651G probably damaging Het
B3gnt2 A T 11: 22,786,860 (GRCm39) F109L probably damaging Het
Bpifb4 T C 2: 153,801,603 (GRCm39) F575L probably damaging Het
Calhm4 A G 10: 33,920,043 (GRCm39) W75R probably damaging Het
Calr C A 8: 85,569,660 (GRCm39) K322N probably benign Het
Ccdc188 T C 16: 18,037,169 (GRCm39) S247P possibly damaging Het
Cdr1 T A X: 60,228,908 (GRCm39) D86V unknown Het
Cep97 C T 16: 55,745,421 (GRCm39) V48I probably damaging Het
Chaf1b T A 16: 93,681,399 (GRCm39) C6S probably damaging Het
Chd3 C T 11: 69,247,844 (GRCm39) D920N probably damaging Het
Clk1 T C 1: 58,452,192 (GRCm39) probably benign Het
Cntnap3 T A 13: 64,905,250 (GRCm39) probably benign Het
Col12a1 T A 9: 79,507,293 (GRCm39) probably null Het
Col17a1 G T 19: 47,659,801 (GRCm39) probably benign Het
Coq7 T A 7: 118,128,940 (GRCm39) I32F possibly damaging Het
Cox6a2 A T 7: 127,805,107 (GRCm39) F59I probably damaging Het
Cpq A G 15: 33,594,297 (GRCm39) D436G probably damaging Het
Ctso G A 3: 81,852,168 (GRCm39) probably null Het
Cxadr A T 16: 78,131,836 (GRCm39) H274L probably benign Het
Cyp2c40 A T 19: 39,766,495 (GRCm39) C367S possibly damaging Het
Defa35 G A 8: 21,555,871 (GRCm39) V77I probably benign Het
Dhx57 A G 17: 80,582,310 (GRCm39) Y432H probably damaging Het
Dhx9 A T 1: 153,341,441 (GRCm39) D601E probably benign Het
Dnah7a C G 1: 53,444,849 (GRCm39) D3952H probably damaging Het
Dnah9 C A 11: 65,917,798 (GRCm39) probably benign Het
Dstyk C A 1: 132,384,602 (GRCm39) probably benign Het
Efcab2 T A 1: 178,303,469 (GRCm39) probably benign Het
Ehbp1l1 T C 19: 5,770,598 (GRCm39) E287G possibly damaging Het
Epgn A G 5: 91,180,073 (GRCm39) T87A probably benign Het
Erc2 A C 14: 27,863,182 (GRCm39) E803A probably damaging Het
Fer A G 17: 64,446,011 (GRCm39) *454W probably null Het
Glyr1 T C 16: 4,849,836 (GRCm39) D179G probably damaging Het
Gm12830 T A 4: 114,702,173 (GRCm39) probably benign Het
Gm9922 C A 14: 101,967,129 (GRCm39) probably benign Het
Gsta3 C T 1: 21,335,118 (GRCm39) P200S possibly damaging Het
Hmgxb3 G A 18: 61,288,200 (GRCm39) probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Il16 T C 7: 83,371,762 (GRCm39) K15E probably damaging Het
Kcnip2 T A 19: 45,782,514 (GRCm39) probably benign Het
Kdm4c T C 4: 74,263,804 (GRCm39) V696A probably benign Het
Kdr A G 5: 76,107,587 (GRCm39) probably benign Het
Klhl33 T G 14: 51,128,868 (GRCm39) H787P probably damaging Het
Klk14 A T 7: 43,343,769 (GRCm39) T159S probably benign Het
Lancl2 A G 6: 57,680,117 (GRCm39) N16D probably damaging Het
Lemd3 T C 10: 120,773,015 (GRCm39) N583S possibly damaging Het
Map3k4 TGCTGGCTTCAGGGCCACAGTCCGCTG TGCTG 17: 12,489,902 (GRCm39) probably null Het
Mpl T G 4: 118,303,235 (GRCm39) probably benign Het
Myh7b T C 2: 155,472,592 (GRCm39) probably benign Het
Mylk A C 16: 34,732,667 (GRCm39) probably benign Het
Myof A T 19: 37,969,714 (GRCm39) M316K probably benign Het
Nfib T A 4: 82,214,974 (GRCm39) N543I probably damaging Het
Nfix A G 8: 85,448,403 (GRCm39) S375P probably damaging Het
Nkrf T C X: 36,153,769 (GRCm39) Q171R probably damaging Het
Nmnat2 T A 1: 152,952,747 (GRCm39) probably benign Het
Npffr2 G A 5: 89,731,206 (GRCm39) E379K probably benign Het
Npr2 T C 4: 43,640,904 (GRCm39) probably benign Het
Nup98 A C 7: 101,801,635 (GRCm39) D212E probably null Het
Nwd2 T C 5: 63,964,561 (GRCm39) Y1382H probably damaging Het
Ocstamp T C 2: 165,237,912 (GRCm39) R451G possibly damaging Het
Or52s1 T A 7: 102,861,928 (GRCm39) I287K probably damaging Het
Or6c6c A G 10: 129,541,008 (GRCm39) D87G probably benign Het
Pabpc1 C T 15: 36,597,737 (GRCm39) A551T possibly damaging Het
Pard3 A T 8: 128,103,378 (GRCm39) probably benign Het
Pcdhb12 G T 18: 37,569,174 (GRCm39) V107L probably benign Het
Pik3cd A T 4: 149,747,677 (GRCm39) V22D probably damaging Het
Pkd1l2 A G 8: 117,724,315 (GRCm39) V2396A probably damaging Het
Pnpla7 T C 2: 24,877,207 (GRCm39) I167T probably damaging Het
Pphln1 A T 15: 93,339,588 (GRCm39) H114L possibly damaging Het
Ppm1h A G 10: 122,756,687 (GRCm39) N444S probably damaging Het
Prdm9 G A 17: 15,777,646 (GRCm39) T146I probably damaging Het
Prrc2a A G 17: 35,369,891 (GRCm39) probably benign Het
Prrx1 T C 1: 163,140,128 (GRCm39) D26G possibly damaging Het
Ptpn5 T C 7: 46,729,042 (GRCm39) E495G probably damaging Het
Rab23 A C 1: 33,773,942 (GRCm39) probably null Het
Ralgps1 C T 2: 33,047,935 (GRCm39) M348I probably benign Het
Ranbp2 A G 10: 58,315,690 (GRCm39) T2137A probably benign Het
Rapgef4 G T 2: 72,056,374 (GRCm39) G654V probably benign Het
Rc3h2 A T 2: 37,269,020 (GRCm39) probably benign Het
Reg2 G A 6: 78,383,169 (GRCm39) A39T possibly damaging Het
Sema4d C A 13: 51,879,347 (GRCm39) V7F probably benign Het
Sgip1 T C 4: 102,772,354 (GRCm39) probably benign Het
Sgpl1 C T 10: 60,949,216 (GRCm39) probably null Het
Shisa9 G A 16: 11,814,987 (GRCm39) V212M probably damaging Het
Shq1 G A 6: 100,550,588 (GRCm39) P450L probably benign Het
Sin3a A G 9: 57,018,196 (GRCm39) T872A probably benign Het
Sipa1l3 C T 7: 29,047,775 (GRCm39) R1371Q probably benign Het
Skint8 T C 4: 111,796,064 (GRCm39) V246A probably benign Het
Slc22a20 A T 19: 6,022,985 (GRCm39) V386D probably damaging Het
Slc28a2b A T 2: 122,348,034 (GRCm39) T253S probably benign Het
Slc2a7 G A 4: 150,242,528 (GRCm39) probably benign Het
Slc35a2 T A X: 7,755,901 (GRCm39) Y48N probably damaging Het
Slc4a2 G T 5: 24,639,344 (GRCm39) S413I probably damaging Het
Sntg2 T C 12: 30,276,772 (GRCm39) T427A probably benign Het
Soat1 T C 1: 156,270,023 (GRCm39) Y132C probably damaging Het
Stn1 G T 19: 47,490,112 (GRCm39) H342N probably benign Het
Tarbp1 T A 8: 127,165,667 (GRCm39) probably benign Het
Tas2r113 A C 6: 132,870,341 (GRCm39) K123T probably damaging Het
Tbck C T 3: 132,440,168 (GRCm39) Q504* probably null Het
Tenm3 C T 8: 48,794,069 (GRCm39) C380Y probably damaging Het
Tent4a A T 13: 69,648,051 (GRCm39) V781E possibly damaging Het
Triobp A G 15: 78,860,740 (GRCm39) D1389G probably damaging Het
Trpm4 A T 7: 44,958,130 (GRCm39) F780I probably damaging Het
Tubb4a G T 17: 57,388,182 (GRCm39) Y281* probably null Het
Txndc15 T C 13: 55,872,395 (GRCm39) F261S probably damaging Het
Ube3b T C 5: 114,557,530 (GRCm39) probably benign Het
Unc5c G C 3: 141,439,694 (GRCm39) V196L probably benign Het
Upf3a G A 8: 13,845,500 (GRCm39) probably null Het
Vmn2r20 T C 6: 123,363,063 (GRCm39) K574E probably benign Het
Vps50 A G 6: 3,536,853 (GRCm39) M275V possibly damaging Het
Xrcc5 A G 1: 72,346,735 (GRCm39) probably benign Het
Zbtb18 T C 1: 177,276,182 (GRCm39) L505S probably damaging Het
Zbtb41 T C 1: 139,366,722 (GRCm39) I567T probably damaging Het
Zfp598 T C 17: 24,897,558 (GRCm39) probably benign Het
Other mutations in Cyp2c70
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00309:Cyp2c70 APN 19 40,145,270 (GRCm39) missense probably benign 0.00
IGL00335:Cyp2c70 APN 19 40,156,020 (GRCm39) missense probably damaging 1.00
IGL01966:Cyp2c70 APN 19 40,142,016 (GRCm39) utr 3 prime probably benign
PIT4468001:Cyp2c70 UTSW 19 40,153,806 (GRCm39) missense probably damaging 1.00
R0012:Cyp2c70 UTSW 19 40,175,687 (GRCm39) missense probably null 1.00
R0044:Cyp2c70 UTSW 19 40,153,815 (GRCm39) missense possibly damaging 0.85
R1572:Cyp2c70 UTSW 19 40,172,426 (GRCm39) missense probably benign 0.21
R1650:Cyp2c70 UTSW 19 40,153,921 (GRCm39) missense probably benign 0.00
R1671:Cyp2c70 UTSW 19 40,142,081 (GRCm39) missense probably damaging 1.00
R2016:Cyp2c70 UTSW 19 40,152,856 (GRCm39) missense possibly damaging 0.94
R2163:Cyp2c70 UTSW 19 40,149,163 (GRCm39) missense possibly damaging 0.64
R3425:Cyp2c70 UTSW 19 40,172,468 (GRCm39) missense probably damaging 1.00
R4299:Cyp2c70 UTSW 19 40,172,372 (GRCm39) missense probably benign 0.00
R5037:Cyp2c70 UTSW 19 40,172,441 (GRCm39) missense possibly damaging 0.72
R5103:Cyp2c70 UTSW 19 40,149,076 (GRCm39) missense probably damaging 0.96
R6060:Cyp2c70 UTSW 19 40,153,857 (GRCm39) nonsense probably null
R6440:Cyp2c70 UTSW 19 40,145,250 (GRCm39) missense possibly damaging 0.64
R6853:Cyp2c70 UTSW 19 40,172,364 (GRCm39) missense possibly damaging 0.72
R6936:Cyp2c70 UTSW 19 40,156,007 (GRCm39) missense probably damaging 0.97
R7098:Cyp2c70 UTSW 19 40,168,931 (GRCm39) missense probably benign 0.02
R8380:Cyp2c70 UTSW 19 40,175,669 (GRCm39) missense probably benign 0.03
R8419:Cyp2c70 UTSW 19 40,149,024 (GRCm39) missense possibly damaging 0.57
R8555:Cyp2c70 UTSW 19 40,172,345 (GRCm39) missense probably benign 0.04
R8678:Cyp2c70 UTSW 19 40,156,016 (GRCm39) missense probably damaging 1.00
R8705:Cyp2c70 UTSW 19 40,168,948 (GRCm39) missense probably benign 0.29
R8968:Cyp2c70 UTSW 19 40,142,059 (GRCm39) missense probably benign 0.26
R9225:Cyp2c70 UTSW 19 40,168,912 (GRCm39) missense probably damaging 0.99
R9468:Cyp2c70 UTSW 19 40,168,889 (GRCm39) missense probably damaging 0.97
R9655:Cyp2c70 UTSW 19 40,149,121 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- ATGCCTGGGGTATGACTCTGGAAC -3'
(R):5'- aggctgtcctttttttccTCACTGC -3'

Sequencing Primer
(F):5'- CCCTTGTAGAAGGTCAGGCTATC -3'
(R):5'- tgttattggcatgtggaaaagg -3'
Posted On 2013-04-16