Incidental Mutation 'R7718:Cyp2c40'
ID 595079
Institutional Source Beutler Lab
Gene Symbol Cyp2c40
Ensembl Gene ENSMUSG00000025004
Gene Name cytochrome P450, family 2, subfamily c, polypeptide 40
Synonyms
MMRRC Submission 045775-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R7718 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 39755517-39801258 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 39755782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 511 (N511Y)
Ref Sequence ENSEMBL: ENSMUSP00000125217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160476] [ENSMUST00000162630]
AlphaFold P56657
Predicted Effect probably benign
Transcript: ENSMUST00000160476
AA Change: N511Y

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000125217
Gene: ENSMUSG00000025004
AA Change: N511Y

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
transmembrane domain 32 49 N/A INTRINSIC
Pfam:p450 59 516 9.8e-153 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162630
SMART Domains Protein: ENSMUSP00000123884
Gene: ENSMUSG00000025004

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
transmembrane domain 32 49 N/A INTRINSIC
Pfam:p450 59 193 6.6e-33 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (77/78)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik A T 5: 138,646,122 (GRCm39) H669L possibly damaging Het
Abcb1a A T 5: 8,765,788 (GRCm39) N700I probably damaging Het
Abcc6 T C 7: 45,626,816 (GRCm39) K1414E possibly damaging Het
Adcy5 T C 16: 35,100,785 (GRCm39) V779A probably benign Het
Agap2 A G 10: 126,915,734 (GRCm39) S82G possibly damaging Het
Aldh1l1 A G 6: 90,575,305 (GRCm39) N864S probably damaging Het
Ang2 A T 14: 51,433,217 (GRCm39) V55E probably benign Het
Ank2 A G 3: 126,758,662 (GRCm39) M179T possibly damaging Het
Atrnl1 T A 19: 57,728,615 (GRCm39) C1090* probably null Het
Atxn1l A G 8: 110,459,866 (GRCm39) L132P probably damaging Het
Bptf A G 11: 106,972,282 (GRCm39) V862A possibly damaging Het
Capn11 C A 17: 45,954,707 (GRCm39) K143N probably damaging Het
Card6 A G 15: 5,129,269 (GRCm39) V709A possibly damaging Het
Cavin4 C T 4: 48,671,984 (GRCm39) A143V probably benign Het
Cntn5 A G 9: 9,984,133 (GRCm39) I160T probably benign Het
Dsc2 A T 18: 20,174,835 (GRCm39) I480N probably damaging Het
Elf2 G T 3: 51,173,385 (GRCm39) probably benign Het
Enoph1 T C 5: 100,210,019 (GRCm39) V133A possibly damaging Het
Ezh2 A T 6: 47,531,125 (GRCm39) D186E probably benign Het
Fcgbpl1 T C 7: 27,846,626 (GRCm39) F1106S probably damaging Het
Gfra1 T C 19: 58,441,889 (GRCm39) D14G possibly damaging Het
Gmip C T 8: 70,270,383 (GRCm39) R698W probably damaging Het
Grk4 A G 5: 34,852,160 (GRCm39) N135D probably benign Het
Hspb6 A G 7: 30,253,772 (GRCm39) D95G probably benign Het
Htatip2 T G 7: 49,420,632 (GRCm39) H159Q possibly damaging Het
Igfn1 T C 1: 135,896,774 (GRCm39) E1264G probably benign Het
Insyn2b T C 11: 34,352,539 (GRCm39) S194P probably benign Het
Katnb1 T A 8: 95,821,836 (GRCm39) V223E possibly damaging Het
Klra6 AGG AG 6: 129,990,315 (GRCm39) probably null Het
Masp2 C T 4: 148,687,204 (GRCm39) R29C probably damaging Het
Mcm3 A T 1: 20,887,498 (GRCm39) C123* probably null Het
Mdn1 T C 4: 32,718,420 (GRCm39) V2225A probably damaging Het
Me1 A G 9: 86,561,953 (GRCm39) L44S probably damaging Het
Mlxip A G 5: 123,583,577 (GRCm39) N380S probably benign Het
Muc21 T C 17: 35,933,728 (GRCm39) T153A unknown Het
Myh14 C T 7: 44,310,464 (GRCm39) V140I probably damaging Het
Myocd A T 11: 65,109,452 (GRCm39) D106E probably damaging Het
Oat T C 7: 132,159,988 (GRCm39) I411V probably benign Het
Or2d2 A T 7: 106,727,925 (GRCm39) V225D probably damaging Het
Or5p59 T C 7: 107,702,855 (GRCm39) V113A probably benign Het
Or8k38 A G 2: 86,488,373 (GRCm39) V143A probably benign Het
Orc2 A T 1: 58,519,476 (GRCm39) H246Q possibly damaging Het
Pank4 A G 4: 155,059,100 (GRCm39) E411G probably damaging Het
Patl2 A T 2: 121,957,255 (GRCm39) probably null Het
Pcdhb15 A G 18: 37,608,216 (GRCm39) N483D probably damaging Het
Pcdhb20 A G 18: 37,638,704 (GRCm39) D410G probably damaging Het
Pdcl2 A G 5: 76,465,846 (GRCm39) C125R probably damaging Het
Peli3 C G 19: 4,984,584 (GRCm39) probably null Het
Pkd1 A G 17: 24,805,474 (GRCm39) D3313G probably benign Het
Plec A C 15: 76,061,639 (GRCm39) M2766R probably damaging Het
Ppargc1a C T 5: 51,655,504 (GRCm39) V99M probably damaging Het
Prr35 T A 17: 26,165,998 (GRCm39) R430* probably null Het
Psg19 G A 7: 18,526,368 (GRCm39) A374V probably benign Het
Psmd7 A T 8: 108,313,261 (GRCm39) F54L possibly damaging Het
Ptbp2 C T 3: 119,514,637 (GRCm39) G397R probably null Het
Ranbp3 A G 17: 57,003,718 (GRCm39) D39G probably damaging Het
Rcor3 T C 1: 191,786,021 (GRCm39) T406A probably benign Het
Rhbdl2 T A 4: 123,718,712 (GRCm39) I222K probably damaging Het
Ripk2 T C 4: 16,151,968 (GRCm39) N197S possibly damaging Het
Rpia A T 6: 70,743,602 (GRCm39) M283K probably damaging Het
Rps6kc1 T C 1: 190,604,022 (GRCm39) D200G probably benign Het
Sipa1l1 A T 12: 82,389,271 (GRCm39) K499M probably damaging Het
Slc5a4b A G 10: 75,906,407 (GRCm39) L404P probably damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Spmip4 G A 6: 50,566,078 (GRCm39) probably null Het
St7 A C 6: 17,854,998 (GRCm39) T312P probably damaging Het
Strbp T C 2: 37,515,294 (GRCm39) E244G probably damaging Het
Tbc1d8 T G 1: 39,416,061 (GRCm39) T871P probably benign Het
Tcp1 T A 17: 13,141,049 (GRCm39) I286N probably damaging Het
Tead3 C A 17: 28,552,491 (GRCm39) V327F probably damaging Het
Tmem132c A T 5: 127,640,504 (GRCm39) T892S probably benign Het
Trmt2a T C 16: 18,068,487 (GRCm39) S65P probably benign Het
Ubp1 A G 9: 113,802,597 (GRCm39) N479S possibly damaging Het
Ubtfl1 A T 9: 18,320,527 (GRCm39) L18F possibly damaging Het
Uevld T G 7: 46,587,804 (GRCm39) M299L probably benign Het
Unc13b T A 4: 43,173,854 (GRCm39) Y1561N unknown Het
Ylpm1 A G 12: 85,075,896 (GRCm39) K874E probably damaging Het
Zbtb37 G A 1: 160,859,802 (GRCm39) R168W possibly damaging Het
Other mutations in Cyp2c40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01384:Cyp2c40 APN 19 39,801,027 (GRCm39) missense probably benign 0.17
IGL01660:Cyp2c40 APN 19 39,775,254 (GRCm39) missense probably damaging 0.99
IGL01897:Cyp2c40 APN 19 39,792,217 (GRCm39) nonsense probably null
IGL01926:Cyp2c40 APN 19 39,791,099 (GRCm39) missense probably benign 0.25
IGL02078:Cyp2c40 APN 19 39,755,926 (GRCm39) missense probably benign 0.01
IGL02259:Cyp2c40 APN 19 39,792,246 (GRCm39) missense probably benign 0.00
IGL02716:Cyp2c40 APN 19 39,795,980 (GRCm39) missense possibly damaging 0.49
cypriot UTSW 19 39,755,899 (GRCm39) missense probably damaging 0.98
R0269:Cyp2c40 UTSW 19 39,762,340 (GRCm39) missense probably damaging 1.00
R0308:Cyp2c40 UTSW 19 39,766,432 (GRCm39) missense probably damaging 1.00
R0309:Cyp2c40 UTSW 19 39,766,495 (GRCm39) missense possibly damaging 0.51
R0441:Cyp2c40 UTSW 19 39,795,607 (GRCm39) splice site probably benign
R1068:Cyp2c40 UTSW 19 39,801,025 (GRCm39) missense possibly damaging 0.93
R1123:Cyp2c40 UTSW 19 39,801,121 (GRCm39) missense probably benign 0.00
R1443:Cyp2c40 UTSW 19 39,766,415 (GRCm39) missense possibly damaging 0.90
R1506:Cyp2c40 UTSW 19 39,766,443 (GRCm39) missense probably damaging 0.96
R1567:Cyp2c40 UTSW 19 39,792,215 (GRCm39) missense probably null 0.99
R1731:Cyp2c40 UTSW 19 39,801,133 (GRCm39) missense probably damaging 1.00
R1774:Cyp2c40 UTSW 19 39,775,250 (GRCm39) missense probably damaging 1.00
R1861:Cyp2c40 UTSW 19 39,775,319 (GRCm39) missense probably benign 0.11
R1977:Cyp2c40 UTSW 19 39,766,485 (GRCm39) missense probably damaging 1.00
R2022:Cyp2c40 UTSW 19 39,801,224 (GRCm39) unclassified probably benign
R2063:Cyp2c40 UTSW 19 39,775,224 (GRCm39) missense probably benign 0.01
R2359:Cyp2c40 UTSW 19 39,766,398 (GRCm39) missense probably damaging 1.00
R2413:Cyp2c40 UTSW 19 39,792,331 (GRCm39) nonsense probably null
R3685:Cyp2c40 UTSW 19 39,775,223 (GRCm39) missense possibly damaging 0.95
R4080:Cyp2c40 UTSW 19 39,790,973 (GRCm39) missense probably benign 0.01
R4614:Cyp2c40 UTSW 19 39,792,300 (GRCm39) missense probably damaging 1.00
R4661:Cyp2c40 UTSW 19 39,775,290 (GRCm39) missense probably benign 0.00
R4716:Cyp2c40 UTSW 19 39,791,105 (GRCm39) splice site probably null
R4799:Cyp2c40 UTSW 19 39,762,293 (GRCm39) missense probably damaging 1.00
R5133:Cyp2c40 UTSW 19 39,795,663 (GRCm39) missense probably benign 0.02
R5191:Cyp2c40 UTSW 19 39,791,035 (GRCm39) missense probably damaging 0.96
R5310:Cyp2c40 UTSW 19 39,766,474 (GRCm39) missense probably damaging 1.00
R5455:Cyp2c40 UTSW 19 39,792,236 (GRCm39) missense possibly damaging 0.75
R5619:Cyp2c40 UTSW 19 39,792,228 (GRCm39) missense probably damaging 1.00
R5989:Cyp2c40 UTSW 19 39,796,024 (GRCm39) missense probably benign 0.45
R6175:Cyp2c40 UTSW 19 39,801,004 (GRCm39) missense probably benign 0.00
R6622:Cyp2c40 UTSW 19 39,790,990 (GRCm39) missense probably damaging 1.00
R6987:Cyp2c40 UTSW 19 39,801,211 (GRCm39) unclassified probably benign
R7057:Cyp2c40 UTSW 19 39,796,063 (GRCm39) missense probably damaging 1.00
R7485:Cyp2c40 UTSW 19 39,796,050 (GRCm39) nonsense probably null
R7560:Cyp2c40 UTSW 19 39,795,658 (GRCm39) missense possibly damaging 0.81
R7648:Cyp2c40 UTSW 19 39,792,289 (GRCm39) makesense probably null
R7763:Cyp2c40 UTSW 19 39,795,612 (GRCm39) missense possibly damaging 0.90
R7893:Cyp2c40 UTSW 19 39,775,292 (GRCm39) missense probably damaging 0.99
R8094:Cyp2c40 UTSW 19 39,791,015 (GRCm39) missense probably benign 0.00
R8094:Cyp2c40 UTSW 19 39,791,009 (GRCm39) missense probably benign 0.17
R8264:Cyp2c40 UTSW 19 39,795,971 (GRCm39) missense possibly damaging 0.95
R8287:Cyp2c40 UTSW 19 39,755,899 (GRCm39) missense probably damaging 0.98
R8302:Cyp2c40 UTSW 19 39,796,066 (GRCm39) missense probably damaging 1.00
R8848:Cyp2c40 UTSW 19 39,801,244 (GRCm39) missense unknown
R8915:Cyp2c40 UTSW 19 39,795,991 (GRCm39) missense probably benign 0.31
R8963:Cyp2c40 UTSW 19 39,755,926 (GRCm39) missense possibly damaging 0.82
R9132:Cyp2c40 UTSW 19 39,762,317 (GRCm39) missense probably damaging 1.00
R9159:Cyp2c40 UTSW 19 39,762,317 (GRCm39) missense probably damaging 1.00
R9168:Cyp2c40 UTSW 19 39,755,819 (GRCm39) missense probably benign
R9486:Cyp2c40 UTSW 19 39,796,050 (GRCm39) nonsense probably null
R9486:Cyp2c40 UTSW 19 39,755,808 (GRCm39) missense probably benign 0.00
R9489:Cyp2c40 UTSW 19 39,766,443 (GRCm39) missense probably damaging 1.00
R9605:Cyp2c40 UTSW 19 39,766,443 (GRCm39) missense probably damaging 1.00
R9772:Cyp2c40 UTSW 19 39,792,348 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AATAGAGAACTGTTAGCCTTGGG -3'
(R):5'- TGCTATTTACAAACACAGTGCC -3'

Sequencing Primer
(F):5'- CCTTGGGCAATTAGAGAACAGAAGC -3'
(R):5'- TTTACAAACACAGTGCCTCTTAAAC -3'
Posted On 2019-11-12