Incidental Mutation 'R1549:Cyp2c69'
ID 169811
Institutional Source Beutler Lab
Gene Symbol Cyp2c69
Ensembl Gene ENSMUSG00000092008
Gene Name cytochrome P450, family 2, subfamily c, polypeptide 69
Synonyms AI098658
MMRRC Submission 039588-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R1549 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 39831258-39875243 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 39831430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 461 (L461Q)
Ref Sequence ENSEMBL: ENSMUSP00000132832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168838]
AlphaFold E9PXC3
Predicted Effect probably benign
Transcript: ENSMUST00000168838
AA Change: L461Q

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000132832
Gene: ENSMUSG00000092008
AA Change: L461Q

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:p450 30 487 7e-152 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 90.8%
Validation Efficiency 97% (58/60)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,210,441 (GRCm39) I157K probably benign Het
Ank3 A T 10: 69,837,812 (GRCm39) N727Y probably benign Het
Atg16l1 A G 1: 87,701,910 (GRCm39) T251A probably benign Het
Bcl11b T A 12: 107,883,422 (GRCm39) I226F probably damaging Het
Birc6 A G 17: 74,969,737 (GRCm39) H4260R probably damaging Het
Camta1 A G 4: 151,670,920 (GRCm39) I85T probably damaging Het
Cblb A G 16: 51,853,373 (GRCm39) probably benign Het
Ccnd1 T G 7: 144,491,073 (GRCm39) I178L probably benign Het
Clcn4 A G 7: 7,294,681 (GRCm39) V329A probably damaging Het
Col17a1 C T 19: 47,637,349 (GRCm39) probably benign Het
Col7a1 A G 9: 108,785,034 (GRCm39) T254A unknown Het
Ctif C A 18: 75,698,096 (GRCm39) R188L probably damaging Het
Ddc A G 11: 11,796,656 (GRCm39) probably null Het
Dpp10 T A 1: 123,269,109 (GRCm39) probably null Het
Eef2 CCC CCCC 10: 81,014,602 (GRCm39) probably null Het
Eif2b4 T C 5: 31,350,265 (GRCm39) E19G possibly damaging Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Galnt14 A G 17: 73,832,308 (GRCm39) L269P possibly damaging Het
Gm2381 T A 7: 42,471,825 (GRCm39) H18L probably benign Het
Gpbp1 G T 13: 111,573,113 (GRCm39) D326E probably benign Het
Gpr162 C T 6: 124,837,051 (GRCm39) R331H probably damaging Het
Iigp1 G A 18: 60,522,948 (GRCm39) G22D probably benign Het
Kcns3 T C 12: 11,142,084 (GRCm39) H205R probably damaging Het
Klk1b26 C T 7: 43,665,826 (GRCm39) probably benign Het
Lime1 A G 2: 181,025,169 (GRCm39) Y242C probably benign Het
Manba A G 3: 135,250,567 (GRCm39) D398G probably damaging Het
Mapk3 A T 7: 126,362,684 (GRCm39) K219* probably null Het
Mdfic G T 6: 15,799,844 (GRCm39) G324C probably damaging Het
Mdga1 G A 17: 30,056,972 (GRCm39) H837Y probably damaging Het
Nck1 T A 9: 100,379,925 (GRCm39) M109L probably benign Het
Or1d2 A G 11: 74,256,076 (GRCm39) I194V probably benign Het
Or2w1b T C 13: 21,300,288 (GRCm39) V142A probably benign Het
Pabpc1l G T 2: 163,879,091 (GRCm39) V313F possibly damaging Het
Phf3 C T 1: 30,843,923 (GRCm39) V1679I probably benign Het
Pou4f1 T C 14: 104,705,076 (GRCm39) I32V probably benign Het
Pspc1 T G 14: 56,986,398 (GRCm39) H351P probably damaging Het
Ptk7 T C 17: 46,883,578 (GRCm39) E829G probably damaging Het
Rab23 A G 1: 33,777,378 (GRCm39) Y164C possibly damaging Het
Slc36a3 A G 11: 55,033,596 (GRCm39) W141R probably damaging Het
Slc7a14 T C 3: 31,278,267 (GRCm39) E446G possibly damaging Het
Stim2 G A 5: 54,262,667 (GRCm39) R303Q probably damaging Het
Tbcd A G 11: 121,451,579 (GRCm39) I550V probably benign Het
Tmed3 A C 9: 89,581,998 (GRCm39) L155R probably damaging Het
Trav16d-dv11 A G 14: 53,284,799 (GRCm39) probably benign Het
Ubap2 C T 4: 41,199,872 (GRCm39) A752T probably benign Het
Usp16 G T 16: 87,261,722 (GRCm39) V113F probably damaging Het
Vmn2r12 T G 5: 109,240,696 (GRCm39) Y139S probably benign Het
Vmn2r5 G T 3: 64,411,421 (GRCm39) D382E probably damaging Het
Zfp1010 T C 2: 176,957,378 (GRCm39) E40G probably damaging Het
Zfp217 A C 2: 169,956,390 (GRCm39) N869K probably benign Het
Zswim2 G T 2: 83,754,092 (GRCm39) D189E probably benign Het
Other mutations in Cyp2c69
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01873:Cyp2c69 APN 19 39,869,693 (GRCm39) splice site probably benign
IGL02127:Cyp2c69 APN 19 39,839,501 (GRCm39) missense probably damaging 0.99
IGL02945:Cyp2c69 APN 19 39,875,091 (GRCm39) missense possibly damaging 0.81
IGL03067:Cyp2c69 APN 19 39,869,537 (GRCm39) missense probably benign 0.29
IGL03069:Cyp2c69 APN 19 39,869,537 (GRCm39) missense probably benign 0.29
BB007:Cyp2c69 UTSW 19 39,831,434 (GRCm39) missense possibly damaging 0.47
BB017:Cyp2c69 UTSW 19 39,831,434 (GRCm39) missense possibly damaging 0.47
R0545:Cyp2c69 UTSW 19 39,875,105 (GRCm39) missense probably damaging 1.00
R1276:Cyp2c69 UTSW 19 39,864,668 (GRCm39) missense possibly damaging 0.47
R1468:Cyp2c69 UTSW 19 39,837,839 (GRCm39) missense probably damaging 1.00
R1468:Cyp2c69 UTSW 19 39,837,839 (GRCm39) missense probably damaging 1.00
R1534:Cyp2c69 UTSW 19 39,839,593 (GRCm39) missense probably benign
R1703:Cyp2c69 UTSW 19 39,864,810 (GRCm39) missense probably benign 0.10
R1752:Cyp2c69 UTSW 19 39,869,597 (GRCm39) missense probably damaging 1.00
R1769:Cyp2c69 UTSW 19 39,864,815 (GRCm39) missense probably benign 0.00
R1843:Cyp2c69 UTSW 19 39,865,972 (GRCm39) missense probably benign 0.27
R1938:Cyp2c69 UTSW 19 39,837,810 (GRCm39) missense probably damaging 0.97
R2100:Cyp2c69 UTSW 19 39,875,130 (GRCm39) missense probably benign 0.11
R2366:Cyp2c69 UTSW 19 39,866,038 (GRCm39) missense probably benign 0.12
R2367:Cyp2c69 UTSW 19 39,866,038 (GRCm39) missense probably benign 0.12
R2440:Cyp2c69 UTSW 19 39,864,738 (GRCm39) missense probably benign 0.17
R2931:Cyp2c69 UTSW 19 39,837,927 (GRCm39) missense probably damaging 1.00
R3709:Cyp2c69 UTSW 19 39,839,667 (GRCm39) splice site probably benign
R3793:Cyp2c69 UTSW 19 39,869,600 (GRCm39) missense probably benign 0.44
R3898:Cyp2c69 UTSW 19 39,864,834 (GRCm39) missense probably benign 0.00
R4579:Cyp2c69 UTSW 19 39,869,630 (GRCm39) missense possibly damaging 0.89
R4707:Cyp2c69 UTSW 19 39,837,852 (GRCm39) missense probably benign 0.39
R4778:Cyp2c69 UTSW 19 39,866,038 (GRCm39) missense probably benign 0.12
R4779:Cyp2c69 UTSW 19 39,866,038 (GRCm39) missense probably benign 0.12
R4780:Cyp2c69 UTSW 19 39,866,038 (GRCm39) missense probably benign 0.12
R4838:Cyp2c69 UTSW 19 39,866,038 (GRCm39) missense probably benign 0.12
R4877:Cyp2c69 UTSW 19 39,866,056 (GRCm39) missense probably damaging 1.00
R5488:Cyp2c69 UTSW 19 39,839,603 (GRCm39) missense probably null 0.94
R5489:Cyp2c69 UTSW 19 39,839,603 (GRCm39) missense probably null 0.94
R6083:Cyp2c69 UTSW 19 39,837,900 (GRCm39) missense probably damaging 1.00
R6278:Cyp2c69 UTSW 19 39,831,507 (GRCm39) nonsense probably null
R6415:Cyp2c69 UTSW 19 39,831,365 (GRCm39) missense probably benign 0.44
R6732:Cyp2c69 UTSW 19 39,869,943 (GRCm39) missense probably benign
R6858:Cyp2c69 UTSW 19 39,866,009 (GRCm39) missense probably benign 0.19
R7023:Cyp2c69 UTSW 19 39,865,986 (GRCm39) missense probably benign 0.43
R7227:Cyp2c69 UTSW 19 39,869,610 (GRCm39) missense possibly damaging 0.77
R7228:Cyp2c69 UTSW 19 39,869,610 (GRCm39) missense possibly damaging 0.77
R7260:Cyp2c69 UTSW 19 39,831,344 (GRCm39) missense probably benign 0.00
R7262:Cyp2c69 UTSW 19 39,875,176 (GRCm39) start gained probably benign
R7479:Cyp2c69 UTSW 19 39,870,001 (GRCm39) missense probably benign 0.00
R7570:Cyp2c69 UTSW 19 39,848,342 (GRCm39) missense probably damaging 1.00
R7663:Cyp2c69 UTSW 19 39,865,953 (GRCm39) nonsense probably null
R7785:Cyp2c69 UTSW 19 39,839,610 (GRCm39) missense probably damaging 1.00
R7795:Cyp2c69 UTSW 19 39,864,663 (GRCm39) missense probably benign
R7920:Cyp2c69 UTSW 19 39,866,247 (GRCm39) splice site probably null
R7930:Cyp2c69 UTSW 19 39,831,434 (GRCm39) missense possibly damaging 0.47
R8203:Cyp2c69 UTSW 19 39,869,584 (GRCm39) missense probably damaging 1.00
R8888:Cyp2c69 UTSW 19 39,869,910 (GRCm39) missense possibly damaging 0.65
R8895:Cyp2c69 UTSW 19 39,869,910 (GRCm39) missense possibly damaging 0.65
R9530:Cyp2c69 UTSW 19 39,848,311 (GRCm39) missense possibly damaging 0.82
R9645:Cyp2c69 UTSW 19 39,869,593 (GRCm39) missense probably damaging 1.00
R9665:Cyp2c69 UTSW 19 39,839,504 (GRCm39) missense possibly damaging 0.73
R9753:Cyp2c69 UTSW 19 39,865,991 (GRCm39) missense probably benign 0.44
Predicted Primers PCR Primer
(F):5'- ACTTTCAGCCTTGGGCAATTAGAGAAC -3'
(R):5'- ACACAATGCCTCTCAAACTCACTTATGT -3'

Sequencing Primer
(F):5'- AATTTCTGGGACTGGGTTAAATGAG -3'
(R):5'- GTATGAGGCATAGTTACCTTCTTTC -3'
Posted On 2014-04-13