Incidental Mutation 'R2163:Cyp2c70'
ID235320
Institutional Source Beutler Lab
Gene Symbol Cyp2c70
Ensembl Gene ENSMUSG00000060613
Gene Namecytochrome P450, family 2, subfamily c, polypeptide 70
Synonyms
MMRRC Submission 040166-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.088) question?
Stock #R2163 (G1)
Quality Score225
Status Validated
Chromosome19
Chromosomal Location40153353-40187333 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 40160719 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Tyrosine at position 328 (H328Y)
Ref Sequence ENSEMBL: ENSMUSP00000060584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051846] [ENSMUST00000165102] [ENSMUST00000171604]
Predicted Effect possibly damaging
Transcript: ENSMUST00000051846
AA Change: H328Y

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000060584
Gene: ENSMUSG00000060613
AA Change: H328Y

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 0.094 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 97% (76/78)
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik T C 11: 23,576,826 probably benign Het
2410089E03Rik T A 15: 8,203,251 probably null Het
4930578I07Rik C A 14: 66,938,548 T64K unknown Het
Ablim2 T C 5: 35,802,353 probably benign Het
Acp4 T C 7: 44,255,976 D107G probably damaging Het
Adamts2 T A 11: 50,788,805 C871S probably benign Het
Adamts3 A G 5: 89,708,718 V332A probably damaging Het
Alkal1 C T 1: 6,389,512 T104M probably benign Het
Astn1 A G 1: 158,502,150 S192G probably damaging Het
Axdnd1 A C 1: 156,392,003 V337G probably damaging Het
Baiap2l2 T C 15: 79,259,195 D481G possibly damaging Het
Cacna2d1 C T 5: 16,362,319 T964I probably damaging Het
Carf T C 1: 60,147,486 probably benign Het
Catsper2 T C 2: 121,400,175 D295G probably damaging Het
Cdh1 A G 8: 106,649,081 T84A probably benign Het
Chd8 T A 14: 52,198,818 H2508L possibly damaging Het
Chl1 A T 6: 103,711,231 T284S probably damaging Het
Chtop A T 3: 90,502,211 M125K probably benign Het
Col14a1 T A 15: 55,444,645 probably benign Het
Cyp2b10 A T 7: 25,925,385 probably benign Het
Dcbld1 A G 10: 52,286,356 T77A probably damaging Het
Dnah6 A T 6: 73,089,746 probably null Het
Efhd1 A T 1: 87,289,473 D104V probably damaging Het
Eif5b A T 1: 38,048,794 D957V probably benign Het
Eps15 T A 4: 109,370,669 S549R probably damaging Het
Fbxo3 C A 2: 104,054,985 H400N probably benign Het
Fcer1a A G 1: 173,222,697 V86A probably damaging Het
Fh1 A G 1: 175,614,840 M148T possibly damaging Het
Foxc1 C A 13: 31,808,603 H466N unknown Het
Gadl1 T A 9: 115,949,558 I180N possibly damaging Het
Gm10801 G C 2: 98,664,007 R143T possibly damaging Het
Gm21718 T C 14: 51,317,766 noncoding transcript Het
Gm6614 G A 6: 141,980,938 T554I possibly damaging Het
Hivep2 T A 10: 14,128,226 Y189* probably null Het
Hoxd13 T A 2: 74,669,069 S254T possibly damaging Het
Hspd1 A G 1: 55,078,538 probably benign Het
Il1r1 A G 1: 40,294,863 M198V probably benign Het
Katnal1 T A 5: 148,888,936 I362F probably damaging Het
Muc2 CGTG CGTGTG 7: 141,699,185 probably null Het
Mybpc1 T C 10: 88,540,942 probably benign Het
Mycbp2 A G 14: 103,169,855 probably null Het
Nell2 G T 15: 95,429,978 N301K probably damaging Het
Nenf T A 1: 191,309,935 D108V probably damaging Het
Nfkbiz T C 16: 55,818,218 N293S probably benign Het
Nipbl T C 15: 8,336,919 K1229E probably damaging Het
Nlrp4a T C 7: 26,453,397 F631L probably benign Het
Nrp1 T A 8: 128,497,871 V705E probably damaging Het
Nsf G C 11: 103,863,333 A459G possibly damaging Het
Olfr1128 A G 2: 87,544,894 S217P probably damaging Het
Olfr366 A G 2: 37,220,077 E196G probably damaging Het
Pdia4 C T 6: 47,798,407 D490N possibly damaging Het
Pinlyp T A 7: 24,541,801 Y192F probably benign Het
Pkd2 T C 5: 104,455,677 probably benign Het
Ppara A G 15: 85,801,046 K399E probably benign Het
Ppp4r2 C A 6: 100,865,086 N169K probably damaging Het
Prom1 T A 5: 44,014,163 E632V possibly damaging Het
Rpap3 T A 15: 97,680,348 Y562F possibly damaging Het
Rsph14 T A 10: 74,957,779 K263N probably damaging Het
Scn11a T G 9: 119,755,025 D1508A probably damaging Het
Scn7a T C 2: 66,675,956 T1530A probably damaging Het
Sec14l1 T A 11: 117,143,282 probably null Het
Slc4a4 A G 5: 89,214,576 I840V probably damaging Het
Slco1c1 T A 6: 141,559,752 V419D probably benign Het
Sltm T A 9: 70,591,682 F1013I probably damaging Het
Spam1 A G 6: 24,796,847 K266E probably benign Het
Syt15 A G 14: 34,226,116 E306G probably benign Het
Tap1 A T 17: 34,189,473 probably null Het
Tbc1d16 G C 11: 119,155,078 probably benign Het
Tex47 T C 5: 7,305,022 Y68H probably damaging Het
Ttn A T 2: 76,811,243 L5176Q possibly damaging Het
Ttn T C 2: 76,812,501 T13264A probably damaging Het
Ubxn2a A T 12: 4,885,757 F131Y probably damaging Het
Usp40 T C 1: 87,995,858 probably benign Het
Vmn1r170 T C 7: 23,607,037 L288P probably damaging Het
Vmn1r175 A G 7: 23,808,927 Y92H probably benign Het
Wdpcp G T 11: 21,885,015 E673* probably null Het
Zfr T A 15: 12,162,223 L820I probably damaging Het
Other mutations in Cyp2c70
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00309:Cyp2c70 APN 19 40156826 missense probably benign 0.00
IGL00335:Cyp2c70 APN 19 40167576 missense probably damaging 1.00
IGL01966:Cyp2c70 APN 19 40153572 utr 3 prime probably benign
PIT4468001:Cyp2c70 UTSW 19 40165362 missense probably damaging 1.00
R0012:Cyp2c70 UTSW 19 40187243 missense probably null 1.00
R0044:Cyp2c70 UTSW 19 40165371 missense possibly damaging 0.85
R0309:Cyp2c70 UTSW 19 40160671 missense possibly damaging 0.94
R1572:Cyp2c70 UTSW 19 40183982 missense probably benign 0.21
R1650:Cyp2c70 UTSW 19 40165477 missense probably benign 0.00
R1671:Cyp2c70 UTSW 19 40153637 missense probably damaging 1.00
R2016:Cyp2c70 UTSW 19 40164412 missense possibly damaging 0.94
R3425:Cyp2c70 UTSW 19 40184024 missense probably damaging 1.00
R4299:Cyp2c70 UTSW 19 40183928 missense probably benign 0.00
R5037:Cyp2c70 UTSW 19 40183997 missense possibly damaging 0.72
R5103:Cyp2c70 UTSW 19 40160632 missense probably damaging 0.96
R6060:Cyp2c70 UTSW 19 40165413 nonsense probably null
R6440:Cyp2c70 UTSW 19 40156806 missense possibly damaging 0.64
R6853:Cyp2c70 UTSW 19 40183920 missense possibly damaging 0.72
R6936:Cyp2c70 UTSW 19 40167563 missense probably damaging 0.97
R7098:Cyp2c70 UTSW 19 40180487 missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TGATATGCATCTCACCTTGGGAATG -3'
(R):5'- ATAGTGTCCAGGCATTCTATGG -3'

Sequencing Primer
(F):5'- GGAATGTGGTATCCTCTGAACTCCAC -3'
(R):5'- GGTGGATCCACTAGTGTCTCATATAC -3'
Posted On2014-10-01