Incidental Mutation 'R1468:Cyp2c69'
ID 197779
Institutional Source Beutler Lab
Gene Symbol Cyp2c69
Ensembl Gene ENSMUSG00000092008
Gene Name cytochrome P450, family 2, subfamily c, polypeptide 69
Synonyms AI098658
MMRRC Submission 039521-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R1468 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 39831258-39875243 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 39837839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 414 (D414E)
Ref Sequence ENSEMBL: ENSMUSP00000132832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168838]
AlphaFold E9PXC3
Predicted Effect probably damaging
Transcript: ENSMUST00000168838
AA Change: D414E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132832
Gene: ENSMUSG00000092008
AA Change: D414E

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:p450 30 487 7e-152 PFAM
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.7%
  • 10x: 94.6%
  • 20x: 90.1%
Validation Efficiency 98% (106/108)
Allele List at MGI
Other mutations in this stock
Total: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik T G 7: 12,246,507 (GRCm39) M1R probably null Het
4933440N22Rik C A 6: 117,884,540 (GRCm39) probably benign Het
5031439G07Rik G T 15: 84,837,345 (GRCm39) P280T probably damaging Het
Abca2 C T 2: 25,331,308 (GRCm39) S1267L probably damaging Het
Acsl3 A T 1: 78,684,126 (GRCm39) R719S probably benign Het
Adam1a A T 5: 121,657,839 (GRCm39) probably null Het
Adamts7 T C 9: 90,070,851 (GRCm39) probably benign Het
Adgrf3 G A 5: 30,407,227 (GRCm39) probably benign Het
Aldh6a1 T C 12: 84,488,544 (GRCm39) E89G possibly damaging Het
Ankrd36 A G 11: 5,525,752 (GRCm39) Y238C probably damaging Het
Ankrd65 G A 4: 155,877,362 (GRCm39) R291Q probably benign Het
Ano2 C T 6: 125,773,227 (GRCm39) R287W probably damaging Het
Ap1ar A G 3: 127,606,215 (GRCm39) I125T probably benign Het
Arid1b A G 17: 5,293,197 (GRCm39) D705G probably damaging Het
Asb18 T A 1: 89,924,005 (GRCm39) N86I probably damaging Het
Bicral A T 17: 47,135,519 (GRCm39) S564T probably benign Het
Bpifa6 A G 2: 153,831,192 (GRCm39) M253V probably benign Het
Braf T C 6: 39,642,017 (GRCm39) D194G probably damaging Het
Brinp3 C A 1: 146,777,700 (GRCm39) P716T probably benign Het
C7 T A 15: 5,041,631 (GRCm39) Y425F probably damaging Het
Ccdc102a T C 8: 95,632,714 (GRCm39) K421R probably benign Het
Cep89 G A 7: 35,120,388 (GRCm39) probably null Het
Chgb A T 2: 132,634,720 (GRCm39) M221L probably benign Het
Chst14 A G 2: 118,758,145 (GRCm39) Y313C probably damaging Het
Ciita G A 16: 10,331,152 (GRCm39) probably null Het
Clec12b A T 6: 129,357,603 (GRCm39) I85N probably damaging Het
Clec2e G T 6: 129,070,459 (GRCm39) Y187* probably null Het
Crbn T C 6: 106,767,804 (GRCm39) K229E probably benign Het
Ctdspl2 A T 2: 121,811,762 (GRCm39) Q201L probably benign Het
Ctrb1 G T 8: 112,416,041 (GRCm39) probably benign Het
Cyp2c55 T A 19: 38,999,525 (GRCm39) V77E probably damaging Het
Ddx47 T C 6: 134,988,703 (GRCm39) probably benign Het
Dlg1 A G 16: 31,661,640 (GRCm39) probably null Het
Dnah5 C A 15: 28,230,609 (GRCm39) S169* probably null Het
Dock4 C A 12: 40,805,809 (GRCm39) T927K probably benign Het
Esrp2 T G 8: 106,860,453 (GRCm39) D259A probably damaging Het
Fam169a A G 13: 97,255,038 (GRCm39) K418R probably benign Het
Fancm A T 12: 65,146,067 (GRCm39) I597F probably damaging Het
Fastkd2 G T 1: 63,771,385 (GRCm39) probably benign Het
Fat1 G A 8: 45,463,582 (GRCm39) V1375M probably damaging Het
Fbxw10 A T 11: 62,753,464 (GRCm39) D486V probably damaging Het
Fech C T 18: 64,603,744 (GRCm39) probably benign Het
Fermt1 C T 2: 132,766,942 (GRCm39) E342K probably benign Het
Foxp1 T A 6: 98,955,181 (GRCm39) H195L possibly damaging Het
Gfra1 T A 19: 58,440,407 (GRCm39) I138L probably benign Het
Gm12185 T C 11: 48,806,501 (GRCm39) D230G possibly damaging Het
Gm14403 T A 2: 177,199,024 (GRCm39) probably benign Het
Gpd2 A C 2: 57,245,786 (GRCm39) T439P probably damaging Het
Gpm6a A T 8: 55,490,385 (GRCm39) K20N probably damaging Het
Hc A T 2: 34,873,819 (GRCm39) Y158* probably null Het
Hectd4 A T 5: 121,487,235 (GRCm39) D3410V possibly damaging Het
Il17b G A 18: 61,823,483 (GRCm39) probably null Het
Irx4 G T 13: 73,413,695 (GRCm39) R55L possibly damaging Het
Itgav A T 2: 83,596,245 (GRCm39) probably benign Het
Lama3 T C 18: 12,574,164 (GRCm39) V582A probably benign Het
Ldhd G T 8: 112,353,925 (GRCm39) A425E possibly damaging Het
Lrp1b C T 2: 40,817,841 (GRCm39) probably null Het
Lrp5 T C 19: 3,670,191 (GRCm39) T638A possibly damaging Het
Lrrk1 A C 7: 65,909,722 (GRCm39) F1996C probably damaging Het
Ly6h G A 15: 75,437,986 (GRCm39) S21L probably benign Het
Mctp1 T C 13: 76,973,392 (GRCm39) V431A probably benign Het
Metap2 C T 10: 93,707,345 (GRCm39) probably null Het
Mfsd2b T A 12: 4,920,536 (GRCm39) K94* probably null Het
Micall2 A G 5: 139,705,097 (GRCm39) L79P probably damaging Het
Mucl2 T C 15: 103,927,673 (GRCm39) T95A possibly damaging Het
Myo15a A T 11: 60,396,832 (GRCm39) T2634S probably damaging Het
Myo5b G T 18: 74,873,574 (GRCm39) V1467L probably damaging Het
Nfic G T 10: 81,256,414 (GRCm39) D105E probably damaging Het
Nrdc T A 4: 108,873,865 (GRCm39) F227Y probably benign Het
Nrp2 A T 1: 62,777,458 (GRCm39) I88F probably damaging Het
Nup160 A T 2: 90,530,887 (GRCm39) H515L probably benign Het
Nup205 G A 6: 35,202,917 (GRCm39) probably null Het
Oas1g G A 5: 121,020,069 (GRCm39) T179I probably benign Het
Ogfr A T 2: 180,236,543 (GRCm39) E376V probably damaging Het
Or2l13 T G 16: 19,306,378 (GRCm39) S263R probably benign Het
Or4a69 A T 2: 89,312,855 (GRCm39) V208D possibly damaging Het
Or4c107 T G 2: 88,789,387 (GRCm39) Y192* probably null Het
Or52d1 G T 7: 103,755,896 (GRCm39) V137F possibly damaging Het
Or5p6 C T 7: 107,631,595 (GRCm39) probably null Het
Pard3b T C 1: 62,384,188 (GRCm39) V851A probably benign Het
Pcdhb16 A T 18: 37,611,142 (GRCm39) Y34F probably damaging Het
Pikfyve T C 1: 65,290,825 (GRCm39) Y1215H probably damaging Het
Pkhd1 A T 1: 20,593,565 (GRCm39) V1516E probably damaging Het
Pla2g4a A T 1: 149,763,344 (GRCm39) probably benign Het
Ptprg A T 14: 12,190,767 (GRCm38) I818F probably benign Het
Ralgapb A G 2: 158,304,173 (GRCm39) E644G possibly damaging Het
Rbm45 A G 2: 76,202,459 (GRCm39) I127M probably damaging Het
Rtp2 T C 16: 23,746,220 (GRCm39) Y157C probably damaging Het
Sema3f A T 9: 107,564,771 (GRCm39) probably benign Het
Sf3b3 A T 8: 111,564,006 (GRCm39) Y329N probably damaging Het
Sfxn1 A G 13: 54,239,646 (GRCm39) probably null Het
Shkbp1 A T 7: 27,044,751 (GRCm39) C447S probably damaging Het
Sipa1l3 A G 7: 29,021,685 (GRCm39) S689P possibly damaging Het
Slc7a8 A G 14: 54,970,656 (GRCm39) S332P probably damaging Het
Slit1 C A 19: 41,596,823 (GRCm39) C1092F probably damaging Het
Slx9 A G 10: 77,333,360 (GRCm39) probably benign Het
Stard9 A G 2: 120,533,678 (GRCm39) I619V possibly damaging Het
Sycp3 T C 10: 88,305,454 (GRCm39) V185A possibly damaging Het
Taar9 A T 10: 23,985,382 (GRCm39) N17K possibly damaging Het
Tbkbp1 T C 11: 97,039,814 (GRCm39) E102G probably damaging Het
Tex44 A G 1: 86,354,834 (GRCm39) N248D probably benign Het
Tmem63b C G 17: 45,989,904 (GRCm39) R88P possibly damaging Het
Tnpo1 C T 13: 98,986,665 (GRCm39) V781I probably benign Het
Tonsl C T 15: 76,520,761 (GRCm39) probably null Het
Ttc6 A G 12: 57,721,463 (GRCm39) K984R possibly damaging Het
Usp34 A G 11: 23,391,171 (GRCm39) E2263G probably damaging Het
Usp8 A G 2: 126,596,847 (GRCm39) K875E probably damaging Het
Vapb C T 2: 173,603,905 (GRCm39) probably benign Het
Vmn1r223 A G 13: 23,434,038 (GRCm39) I211V possibly damaging Het
Vmn2r81 G A 10: 79,129,496 (GRCm39) V796I probably damaging Het
Wdr90 A T 17: 26,073,027 (GRCm39) V856D probably damaging Het
Wnk2 T A 13: 49,235,571 (GRCm39) T615S probably damaging 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
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
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'- TCTATCCAGCAGCACACTTGTTCAG -3'
(R):5'- AGGAGAACAATGTTCAGCACCCTG -3'

Sequencing Primer
(F):5'- ttatataGTTGAGCCTGGAGGAGAG -3'
(R):5'- ATGTTCAGCACCCTGAGACATTC -3'
Posted On 2014-05-23