Incidental Mutation 'R3793:Cyp2c69'
ID 272674
Institutional Source Beutler Lab
Gene Symbol Cyp2c69
Ensembl Gene ENSMUSG00000092008
Gene Name cytochrome P450, family 2, subfamily c, polypeptide 69
Synonyms AI098658
MMRRC Submission 040755-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R3793 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 39831258-39875243 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 39869600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 140 (T140A)
Ref Sequence ENSEMBL: ENSMUSP00000132832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168838]
AlphaFold E9PXC3
Predicted Effect probably benign
Transcript: ENSMUST00000168838
AA Change: T140A

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000132832
Gene: ENSMUSG00000092008
AA Change: T140A

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.4%
Validation Efficiency 98% (50/51)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 A G 7: 75,259,889 (GRCm39) T35A probably benign Het
Arhgap32 T A 9: 32,166,669 (GRCm39) S435R probably damaging Het
Asic1 A T 15: 99,569,906 (GRCm39) K76* probably null Het
B9d1 A G 11: 61,398,448 (GRCm39) probably benign Het
Casd1 T C 6: 4,619,876 (GRCm39) V207A possibly damaging Het
Cass4 C T 2: 172,274,478 (GRCm39) P753L probably damaging Het
Cnfn T C 7: 25,067,805 (GRCm39) N45S probably benign Het
Col14a1 G T 15: 55,226,909 (GRCm39) D220Y unknown Het
Csn1s1 T A 5: 87,828,702 (GRCm39) Y274* probably null Het
Dlg2 A T 7: 91,459,743 (GRCm39) probably benign Het
Esp16 T C 17: 39,848,739 (GRCm39) I11T possibly damaging Het
Esyt3 A T 9: 99,197,334 (GRCm39) F832Y possibly damaging Het
Ift172 C T 5: 31,414,925 (GRCm39) D1366N possibly damaging Het
Itga4 A G 2: 79,109,472 (GRCm39) T224A probably benign Het
Itprid1 A T 6: 55,952,588 (GRCm39) M844L possibly damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Krt71 C T 15: 101,651,345 (GRCm39) S46N probably damaging Het
Lhx1 A G 11: 84,412,726 (GRCm39) S65P probably benign Het
Lingo4 A G 3: 94,309,685 (GRCm39) S208G probably benign Het
Lrrc2 T A 9: 110,795,585 (GRCm39) C123* probably null Het
Nfrkb A T 9: 31,321,228 (GRCm39) probably benign Het
Nfx1 T A 4: 41,004,357 (GRCm39) C709* probably null Het
Nlrp14 A T 7: 106,781,481 (GRCm39) Q226L probably benign Het
Ocln T C 13: 100,635,402 (GRCm39) R496G possibly damaging Het
Or2b2b T C 13: 21,859,153 (GRCm39) probably null Het
Or7e173 T A 9: 19,938,359 (GRCm39) I292F probably damaging Het
Osgepl1 T C 1: 53,359,406 (GRCm39) I305T probably damaging Het
Ovgp1 A G 3: 105,887,487 (GRCm39) N266S probably benign Het
Per1 A G 11: 69,000,127 (GRCm39) E1273G probably benign Het
Plch1 A G 3: 63,605,252 (GRCm39) Y1542H probably damaging Het
Pold1 A G 7: 44,190,994 (GRCm39) F252L probably damaging Het
Ptk2b A T 14: 66,407,700 (GRCm39) D607E probably damaging Het
Sdf4 T A 4: 156,086,916 (GRCm39) probably null Het
Sirt4 T C 5: 115,618,351 (GRCm39) D241G probably benign Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Slco1b2 A G 6: 141,622,033 (GRCm39) Y531C probably damaging Het
Tmem200a A T 10: 25,870,087 (GRCm39) S61T probably damaging Het
Trp53bp1 T C 2: 121,030,810 (GRCm39) I1784V probably damaging Het
Uba2 A C 7: 33,845,722 (GRCm39) V467G probably damaging Het
Ubr3 T C 2: 69,747,525 (GRCm39) S263P possibly damaging Het
Ugt2b35 A G 5: 87,149,465 (GRCm39) T239A probably benign Het
Wac T C 18: 7,920,190 (GRCm39) V348A possibly damaging Het
Wdr3 A T 3: 100,059,281 (GRCm39) M346K probably benign Het
Zfp607a A T 7: 27,578,331 (GRCm39) H467L 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
R1549:Cyp2c69 UTSW 19 39,831,430 (GRCm39) missense probably benign 0.11
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
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'- ACCTATACTCATGACATCCCATTAG -3'
(R):5'- TTCCAGAGCAAGCTGAAAGG -3'

Sequencing Primer
(F):5'- TCTGACCTGCACTTACCA -3'
(R):5'- AGAGTAGAGGTCATGCTTGC -3'
Posted On 2015-03-25