Incidental Mutation 'R7228:Cyp2c69'
ID 562321
Institutional Source Beutler Lab
Gene Symbol Cyp2c69
Ensembl Gene ENSMUSG00000092008
Gene Name cytochrome P450, family 2, subfamily c, polypeptide 69
Synonyms AI098658
MMRRC Submission 045300-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R7228 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 39831258-39875243 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 39869610 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 136 (M136I)
Ref Sequence ENSEMBL: ENSMUSP00000132832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168838]
AlphaFold E9PXC3
Predicted Effect possibly damaging
Transcript: ENSMUST00000168838
AA Change: M136I

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000132832
Gene: ENSMUSG00000092008
AA Change: M136I

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:p450 30 487 7e-152 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,247,653 (GRCm39) F2467I probably benign Het
Acod1 A G 14: 103,286,765 (GRCm39) T23A probably benign Het
Adam2 T A 14: 66,291,361 (GRCm39) K306* probably null Het
Adcy10 A C 1: 165,337,841 (GRCm39) I152L probably damaging Het
Amigo1 T C 3: 108,094,546 (GRCm39) L15P probably benign Het
Aqp2 A G 15: 99,480,005 (GRCm39) N156S probably benign Het
AU041133 A G 10: 81,987,105 (GRCm39) K253E possibly damaging Het
Cacna1s A G 1: 135,998,797 (GRCm39) T231A possibly damaging Het
Carf A T 1: 60,148,553 (GRCm39) N83I probably damaging Het
Ccdc121rt1 T C 1: 181,338,532 (GRCm39) K140R probably benign Het
Cdc42bpb C T 12: 111,271,527 (GRCm39) V1111M possibly damaging Het
Cep78 A G 19: 15,946,561 (GRCm39) S424P probably benign Het
Cfap74 G A 4: 155,549,507 (GRCm39) V123M unknown Het
Crot T A 5: 9,026,051 (GRCm39) N312I probably damaging Het
Cyp4f39 A G 17: 32,710,803 (GRCm39) D454G probably damaging Het
Dnaja4 A T 9: 54,621,569 (GRCm39) H298L possibly damaging Het
Eif2ak4 C T 2: 118,287,638 (GRCm39) T1081M probably damaging Het
Eif3j2 T C 18: 43,610,574 (GRCm39) K80E probably damaging Het
Elp4 T A 2: 105,622,647 (GRCm39) I351F probably damaging Het
Fbxw26 C G 9: 109,554,012 (GRCm39) G209A possibly damaging Het
Fsip2 T A 2: 82,822,651 (GRCm39) V6128D possibly damaging Het
Gli3 A G 13: 15,899,087 (GRCm39) T825A probably benign Het
Gm2042 A G 12: 87,924,719 (GRCm39) E60G probably benign Het
Gm26566 G T 4: 88,640,542 (GRCm39) R111L unknown Het
Gm3138 C A 14: 15,632,269 (GRCm39) H147Q probably damaging Het
Gucy1b1 T A 3: 81,940,581 (GRCm39) N615I unknown Het
Ighv14-1 A T 12: 113,895,981 (GRCm39) F8I not run Het
Kcnh8 C T 17: 53,263,744 (GRCm39) T747I probably benign Het
Kctd1 T A 18: 15,195,469 (GRCm39) S385C possibly damaging Het
Lmo7 T A 14: 102,133,971 (GRCm39) M672K probably damaging Het
Lrrc69 T A 4: 14,775,027 (GRCm39) K80N probably damaging Het
Map2k5 C T 9: 63,265,304 (GRCm39) D75N probably damaging Het
Matr3 T C 18: 35,695,537 (GRCm39) V4A unknown Het
Megf10 T C 18: 57,322,661 (GRCm39) C69R probably damaging Het
Mettl1 A G 10: 126,881,152 (GRCm39) E221G probably benign Het
Mkrn3 C A 7: 62,069,415 (GRCm39) R125S probably benign Het
Mlh3 A T 12: 85,282,430 (GRCm39) L1401Q probably benign Het
Nacad T C 11: 6,548,412 (GRCm39) I1412V probably benign Het
Nkain4 A T 2: 180,596,362 (GRCm39) probably null Het
Notch2 T A 3: 98,044,633 (GRCm39) C1518* probably null Het
Npw A G 17: 24,877,065 (GRCm39) V112A probably benign Het
Or10a5 A T 7: 106,636,307 (GRCm39) H315L probably benign Het
Or2v1 T A 11: 49,025,706 (GRCm39) M229K possibly damaging Het
Pdzd2 T C 15: 12,373,059 (GRCm39) T2359A probably benign Het
Pdzd2 T A 15: 12,458,231 (GRCm39) K37* probably null Het
Phkb T G 8: 86,569,636 (GRCm39) probably benign Het
Pou2af2 T C 9: 51,202,956 (GRCm39) D66G probably damaging Het
Prrc2b C A 2: 32,104,318 (GRCm39) Y1265* probably null Het
Rab31 T A 17: 66,024,548 (GRCm39) M44L probably benign Het
Rap1gds1 C T 3: 138,663,228 (GRCm39) G373R probably damaging Het
Rapgef2 T C 3: 78,976,525 (GRCm39) D1279G probably benign Het
Rbm46 T C 3: 82,749,840 (GRCm39) D468G probably benign Het
Ryr3 T C 2: 112,692,197 (GRCm39) E1059G probably damaging Het
Sez6l2 T C 7: 126,552,897 (GRCm39) L221P probably damaging Het
Slit3 T A 11: 35,490,245 (GRCm39) V361E probably damaging Het
Soat1 G A 1: 156,261,808 (GRCm39) S400F probably damaging Het
Spp1 T C 5: 104,588,311 (GRCm39) S238P probably damaging Het
Tdpoz8 T A 3: 92,980,993 (GRCm39) C4S possibly damaging Het
Tfap2c T C 2: 172,393,492 (GRCm39) S136P probably benign Het
Tgfbr2 T C 9: 115,939,011 (GRCm39) E297G probably damaging Het
Trim2 T C 3: 84,099,488 (GRCm39) D228G probably benign Het
Wdr82 C A 9: 106,053,871 (GRCm39) A74E probably benign Het
Zfp451 T C 1: 33,842,475 (GRCm39) T136A unknown 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
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
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'- GGTACCTATACTCATGACATCCC -3'
(R):5'- TTTCCAGAGCAAGCTGAAAGGTG -3'

Sequencing Primer
(F):5'- TACCTATACTCATGACATCCCATTAG -3'
(R):5'- AGAGTAGAGGTCATGCTTGC -3'
Posted On 2019-06-26