Incidental Mutation 'IGL02152:Cpox'
ID 282067
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpox
Ensembl Gene ENSMUSG00000022742
Gene Name coproporphyrinogen oxidase
Synonyms clone 560, nct, Cpo, M100835, cac
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02152
Quality Score
Status
Chromosome 16
Chromosomal Location 58490571-58500754 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58494787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 275 (T275A)
Ref Sequence ENSEMBL: ENSMUSP00000055455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060077]
AlphaFold P36552
Predicted Effect possibly damaging
Transcript: ENSMUST00000060077
AA Change: T275A

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000055455
Gene: ENSMUSG00000022742
AA Change: T275A

DomainStartEndE-ValueType
low complexity region 57 81 N/A INTRINSIC
low complexity region 94 105 N/A INTRINSIC
Pfam:Coprogen_oxidas 140 442 7.6e-142 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231276
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231492
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232176
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232532
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the sixth enzyme of the heme biosynthetic pathway. The encoded enzyme is soluble and found in the intermembrane space of mitochondria. This enzyme catalyzes the stepwise oxidative decarboxylation of coproporphyrinogen III to protoporphyrinogen IX, a precursor of heme. Defects in this gene are a cause of hereditary coproporphyria (HCP).[provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a spontaneous allele develop cataracts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik A G 5: 107,695,983 (GRCm39) T140A probably benign Het
4933430I17Rik T C 4: 62,460,991 (GRCm39) Y289H possibly damaging Het
Adamts17 T A 7: 66,774,748 (GRCm39) S956T probably benign Het
Adamts6 A T 13: 104,450,168 (GRCm39) S290C probably null Het
Apaf1 A T 10: 90,897,681 (GRCm39) H267Q probably benign Het
Aplp2 G A 9: 31,122,947 (GRCm39) P26L unknown Het
Arid1b C T 17: 5,364,243 (GRCm39) S1019F probably damaging Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Ass1 T C 2: 31,382,336 (GRCm39) I169T probably damaging Het
Ccser1 A G 6: 61,288,692 (GRCm39) D285G possibly damaging Het
Cenpf A G 1: 189,381,209 (GRCm39) V2737A probably benign Het
Chrm5 A G 2: 112,310,913 (GRCm39) Y68H probably damaging Het
Cops4 A G 5: 100,681,456 (GRCm39) T164A probably benign Het
Cox4i1 A G 8: 121,399,604 (GRCm39) S72G probably benign Het
Cyb5a T C 18: 84,891,281 (GRCm39) I68T probably benign Het
Efna5 T C 17: 62,958,055 (GRCm39) D67G probably benign Het
Enpp3 T C 10: 24,649,900 (GRCm39) E842G probably damaging Het
Fam210b A G 2: 172,193,423 (GRCm39) K79E probably benign Het
Gm4799 T C 10: 82,790,589 (GRCm39) noncoding transcript Het
Gpr146 A T 5: 139,378,467 (GRCm39) R90W probably damaging Het
H2ac10 A G 13: 23,718,451 (GRCm39) H124R probably benign Het
Hal A G 10: 93,339,404 (GRCm39) I498V possibly damaging Het
Hnrnpm C T 17: 33,877,386 (GRCm39) G365R probably damaging Het
Jakmip3 A G 7: 138,627,217 (GRCm39) D407G probably damaging Het
Kank1 A G 19: 25,405,536 (GRCm39) I1185V possibly damaging Het
Kcnj16 A T 11: 110,916,036 (GRCm39) M233L probably benign Het
Klhl5 A T 5: 65,306,143 (GRCm39) Q370L probably damaging Het
L3hypdh C T 12: 72,123,917 (GRCm39) probably null Het
Las1l A G X: 94,996,908 (GRCm39) V130A probably damaging Het
Liat1 A G 11: 75,894,051 (GRCm39) I143V probably benign Het
Lrp2bp A T 8: 46,476,081 (GRCm39) Y274F probably damaging Het
Morc2b T A 17: 33,356,917 (GRCm39) K285M probably damaging Het
Mpp3 A T 11: 101,916,216 (GRCm39) Y45* probably null Het
Muc4 T A 16: 32,598,023 (GRCm39) probably benign Het
Muc5ac T C 7: 141,353,914 (GRCm39) C837R possibly damaging Het
Nr2f6 T A 8: 71,828,810 (GRCm39) I155F probably damaging Het
Nsg1 A G 5: 38,302,145 (GRCm39) F50L probably benign Het
Or14a258 T A 7: 86,035,251 (GRCm39) M206L probably benign Het
Ostf1 C A 19: 18,567,822 (GRCm39) G101C probably damaging Het
Pam C T 1: 97,768,474 (GRCm39) R552Q probably damaging Het
Pkd1l3 A G 8: 110,395,924 (GRCm39) N2108S probably damaging Het
Prkdc A T 16: 15,487,149 (GRCm39) H484L probably benign Het
Pwwp3a A G 10: 80,075,812 (GRCm39) D466G probably damaging Het
Rfx5 G A 3: 94,864,493 (GRCm39) R213Q probably damaging Het
Ryr1 T C 7: 28,751,440 (GRCm39) S3715G possibly damaging Het
Sall2 A G 14: 52,552,971 (GRCm39) S73P probably damaging Het
Sec22c G A 9: 121,513,845 (GRCm39) A264V probably benign Het
Sis A C 3: 72,796,319 (GRCm39) probably benign Het
Spam1 T A 6: 24,800,802 (GRCm39) probably benign Het
Spmip2 T C 3: 79,252,839 (GRCm39) I18T possibly damaging Het
St13 T A 15: 81,250,583 (GRCm39) I318F probably damaging Het
Syne1 T C 10: 5,374,382 (GRCm39) I142V probably damaging Het
Tasor2 C T 13: 3,635,371 (GRCm39) E479K probably benign Het
Trpm6 A T 19: 18,809,903 (GRCm39) T1100S possibly damaging Het
Ttll6 G A 11: 96,026,366 (GRCm39) W90* probably null Het
Txndc12 T A 4: 108,691,989 (GRCm39) C9* probably null Het
Ubr7 C T 12: 102,734,535 (GRCm39) Q270* probably null Het
Vps33b A G 7: 79,934,817 (GRCm39) S302G probably benign Het
Xylt1 T A 7: 117,233,997 (GRCm39) V508E probably damaging Het
Zbtb26 A T 2: 37,326,703 (GRCm39) L111Q possibly damaging Het
Zfp410 T C 12: 84,379,702 (GRCm39) probably benign Het
Zscan18 A T 7: 12,509,223 (GRCm39) probably benign Het
Other mutations in Cpox
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03031:Cpox APN 16 58,492,923 (GRCm39) missense probably damaging 1.00
IGL03034:Cpox APN 16 58,495,718 (GRCm39) missense probably damaging 0.98
scraggy UTSW 16 58,491,298 (GRCm39) missense probably damaging 1.00
R0413:Cpox UTSW 16 58,491,232 (GRCm39) missense possibly damaging 0.52
R0523:Cpox UTSW 16 58,495,608 (GRCm39) nonsense probably null
R0551:Cpox UTSW 16 58,495,753 (GRCm39) missense probably benign 0.11
R2064:Cpox UTSW 16 58,494,772 (GRCm39) missense probably benign 0.36
R4651:Cpox UTSW 16 58,491,050 (GRCm39) missense possibly damaging 0.92
R4701:Cpox UTSW 16 58,498,332 (GRCm39) nonsense probably null
R4782:Cpox UTSW 16 58,492,986 (GRCm39) missense probably damaging 1.00
R5285:Cpox UTSW 16 58,495,649 (GRCm39) missense probably damaging 1.00
R5287:Cpox UTSW 16 58,495,649 (GRCm39) missense probably damaging 1.00
R5313:Cpox UTSW 16 58,498,311 (GRCm39) nonsense probably null
R5346:Cpox UTSW 16 58,495,649 (GRCm39) missense probably damaging 1.00
R5354:Cpox UTSW 16 58,491,205 (GRCm39) missense probably damaging 0.99
R5404:Cpox UTSW 16 58,495,649 (GRCm39) missense probably damaging 1.00
R5476:Cpox UTSW 16 58,499,088 (GRCm39) missense probably damaging 0.99
R5853:Cpox UTSW 16 58,495,780 (GRCm39) missense probably damaging 0.99
R6026:Cpox UTSW 16 58,491,298 (GRCm39) missense probably damaging 1.00
R7059:Cpox UTSW 16 58,491,290 (GRCm39) missense probably damaging 1.00
R7061:Cpox UTSW 16 58,491,223 (GRCm39) missense possibly damaging 0.76
R7606:Cpox UTSW 16 58,494,812 (GRCm39) missense probably benign 0.16
R8753:Cpox UTSW 16 58,498,391 (GRCm39) missense probably damaging 1.00
R8779:Cpox UTSW 16 58,491,229 (GRCm39) missense probably damaging 1.00
R8793:Cpox UTSW 16 58,493,708 (GRCm39) missense probably damaging 1.00
R9667:Cpox UTSW 16 58,490,984 (GRCm39) missense possibly damaging 0.52
R9736:Cpox UTSW 16 58,494,746 (GRCm39) missense probably benign 0.00
RF059:Cpox UTSW 16 58,491,130 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16