Incidental Mutation 'R1671:Cyp2c70'
ID 187654
Institutional Source Beutler Lab
Gene Symbol Cyp2c70
Ensembl Gene ENSMUSG00000060613
Gene Name cytochrome P450, family 2, subfamily c, polypeptide 70
Synonyms
MMRRC Submission 039707-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # R1671 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 40141805-40175730 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 40142081 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 470 (P470L)
Ref Sequence ENSEMBL: ENSMUSP00000060584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051846]
AlphaFold Q91W64
Predicted Effect probably damaging
Transcript: ENSMUST00000051846
AA Change: P470L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000060584
Gene: ENSMUSG00000060613
AA Change: P470L

DomainStartEndE-ValueType
Pfam:p450 30 486 2.1e-158 PFAM
Meta Mutation Damage Score 0.8551 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 100% (70/70)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik A C 14: 64,210,637 (GRCm39) L197R probably benign Het
Arglu1 A G 8: 8,733,896 (GRCm39) V140A possibly damaging Het
Arhgef28 T C 13: 98,067,542 (GRCm39) E1461G possibly damaging Het
Best3 A T 10: 116,860,573 (GRCm39) D611V possibly damaging Het
Cenpf T C 1: 189,411,341 (GRCm39) probably null Het
Cenpj A C 14: 56,802,502 (GRCm39) M21R probably damaging Het
Cltc A T 11: 86,623,421 (GRCm39) H201Q possibly damaging Het
Col28a1 A T 6: 8,083,773 (GRCm39) N561K possibly damaging Het
Cyp4f14 G A 17: 33,135,883 (GRCm39) probably benign Het
Ddi1 A T 9: 6,266,225 (GRCm39) V48D possibly damaging Het
Dnah11 A C 12: 117,880,523 (GRCm39) Y3866D probably damaging Het
Dnah9 A G 11: 65,818,789 (GRCm39) V3183A probably damaging Het
Elmo1 T A 13: 20,472,054 (GRCm39) probably benign Het
Fap T A 2: 62,384,179 (GRCm39) Y9F possibly damaging Het
Fbxo15 T A 18: 84,977,231 (GRCm39) S93T possibly damaging Het
Gal3st2 C T 1: 93,801,400 (GRCm39) R19C probably damaging Het
Gmnn A T 13: 24,936,054 (GRCm39) *207R probably null Het
Gucy1a1 A C 3: 82,013,529 (GRCm39) I371S probably damaging Het
H1f11-ps C A 19: 47,159,294 (GRCm39) V94L possibly damaging Het
Igsf10 G T 3: 59,235,921 (GRCm39) S1420* probably null Het
Itih5 G T 2: 10,191,782 (GRCm39) V106L probably benign Het
Itsn1 T A 16: 91,609,038 (GRCm39) I201K probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lars2 C T 9: 123,247,344 (GRCm39) T283I probably benign Het
Loxhd1 T C 18: 77,492,498 (GRCm39) I1313T probably damaging Het
Mamdc4 T A 2: 25,458,235 (GRCm39) R368* probably null Het
Mdga1 A T 17: 30,069,603 (GRCm39) Y422N probably damaging Het
Mro A T 18: 74,003,126 (GRCm39) probably benign Het
Mroh2b T C 15: 4,980,776 (GRCm39) probably null Het
Nlrp1b C A 11: 71,092,085 (GRCm39) V14L probably benign Het
Nos3 A G 5: 24,588,838 (GRCm39) D1157G probably damaging Het
Nrxn2 C A 19: 6,523,780 (GRCm39) R598S probably damaging Het
Or2av9 A T 11: 58,381,435 (GRCm39) W49R possibly damaging Het
Or4k1 T C 14: 50,377,290 (GRCm39) K269E probably damaging Het
Or52ae9 C A 7: 103,389,617 (GRCm39) A277S possibly damaging Het
Or8b101 A G 9: 38,020,428 (GRCm39) M144V probably benign Het
Otog A T 7: 45,911,210 (GRCm39) D687V probably damaging Het
Pcsk5 C T 19: 17,432,232 (GRCm39) C1461Y probably damaging Het
Raet1d A G 10: 22,238,614 (GRCm39) M1V probably null Het
Rnf6 A T 5: 146,147,998 (GRCm39) L340* probably null Het
Rsl1d1 T C 16: 11,019,245 (GRCm39) T99A probably damaging Het
Sbno1 A T 5: 124,530,130 (GRCm39) probably null Het
Sipa1l1 A G 12: 82,444,235 (GRCm39) Y982C probably damaging Het
Sorbs3 G T 14: 70,428,915 (GRCm39) R417S possibly damaging Het
Sorl1 A G 9: 41,885,296 (GRCm39) C2102R probably damaging Het
Sp140l2 C T 1: 85,235,106 (GRCm39) probably null Het
Sptbn1 T A 11: 30,092,245 (GRCm39) I494F possibly damaging Het
Tank T A 2: 61,480,097 (GRCm39) V211E probably damaging Het
Tbcd T A 11: 121,488,120 (GRCm39) D840E probably benign Het
Tg T A 15: 66,564,236 (GRCm39) C1146S possibly damaging Het
Tiam2 A T 17: 3,557,109 (GRCm39) E110V probably damaging Het
Tle4 A T 19: 14,431,103 (GRCm39) W560R probably damaging Het
Triml2 G A 8: 43,636,780 (GRCm39) R76H possibly damaging Het
Ttn T C 2: 76,541,964 (GRCm39) E25347G probably damaging Het
Ube2e2 A G 14: 18,586,889 (GRCm38) L124P probably damaging Het
Vmn2r81 A G 10: 79,103,265 (GRCm39) K153E probably benign Het
Wnt16 A T 6: 22,298,178 (GRCm39) Y348F probably damaging Het
Xpo6 A G 7: 125,707,715 (GRCm39) V897A possibly damaging Het
Zbtb26 T C 2: 37,326,377 (GRCm39) T220A probably benign Het
Zik1 A T 7: 10,224,675 (GRCm39) S141T probably damaging Het
Zkscan3 A G 13: 21,580,305 (GRCm39) Y128H possibly damaging 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
R0309:Cyp2c70 UTSW 19 40,149,115 (GRCm39) missense possibly damaging 0.94
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
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'- TGGCTAACAATCTTACACACGCTGC -3'
(R):5'- TCAATGACTCATCAGTTGCATGTCCC -3'

Sequencing Primer
(F):5'- CGCTGCAACAAAACTTTATTAGTGC -3'
(R):5'- CATGTCCCTTTTAGGAAGAAGAGC -3'
Posted On 2014-05-09