Incidental Mutation 'IGL02111:Apoc3'
ID 280136
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Apoc3
Ensembl Gene ENSMUSG00000032081
Gene Name apolipoprotein C-III
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # IGL02111
Quality Score
Status
Chromosome 9
Chromosomal Location 46144348-46146934 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46145772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 79 (K79R)
Ref Sequence ENSEMBL: ENSMUSP00000113126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034586] [ENSMUST00000034588] [ENSMUST00000118649] [ENSMUST00000121916] [ENSMUST00000132155] [ENSMUST00000145672]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000034586
AA Change: K41R

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034586
Gene: ENSMUSG00000032081
AA Change: K41R

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Apo-CIII 22 91 2.4e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000034588
SMART Domains Protein: ENSMUSP00000034588
Gene: ENSMUSG00000032083

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Apolipoprotein 68 259 1.2e-52 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000118649
AA Change: K41R

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113058
Gene: ENSMUSG00000032081
AA Change: K41R

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Apo-CIII 22 91 2.4e-43 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000121916
AA Change: K79R

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113126
Gene: ENSMUSG00000032081
AA Change: K79R

DomainStartEndE-ValueType
Pfam:Apo-CIII 60 129 7.5e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132155
Predicted Effect unknown
Transcript: ENSMUST00000145672
AA Change: K41R
SMART Domains Protein: ENSMUSP00000115025
Gene: ENSMUSG00000032081
AA Change: K41R

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Apo-CIII 22 53 4.8e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214729
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes an apolipoprotein which is the major protein component of very-low-density lipoproteins (VLDL) and a minor component of high-density lipoproteins (HDL). The encoded protein is thought to regulate the metabolism of triglyceride-rich lipoproteins and play a role in lipid storage and the mobilization of fat cells. This gene is clustered with three other apolipoprotein genes on chromosome 9 and is associated with coronary disease. Mice lacking this gene have lower levels of total cholesterol in the plasma. Mutations in the human genes causes hyperalphalipoproteinemia 2, a disorder of lipid metabolism which results in a favorable lipid profile (lower LDL-cholesterol, higher HDL-cholesterol and lower levels of serum triglycerides when fasting and after a meal). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced fasted triglyceride levels, increased triglyceride secretion rate, and loss of postprandial and obesity-associated hypertriglyceridemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 G A 8: 95,761,627 (GRCm39) R130Q probably damaging Het
Adipor2 A T 6: 119,347,157 (GRCm39) L42* probably null Het
Ankrd45 A G 1: 160,990,921 (GRCm39) K259E probably damaging Het
Arhgap40 T C 2: 158,381,764 (GRCm39) Y416H probably damaging Het
Armc5 A G 7: 127,843,255 (GRCm39) T683A probably benign Het
Bora T C 14: 99,284,813 (GRCm39) V21A probably damaging Het
Cacna1b C T 2: 24,497,003 (GRCm39) S2189N probably damaging Het
Cct2 G A 10: 116,889,017 (GRCm39) T57I probably damaging Het
Cd200r1 A T 16: 44,609,144 (GRCm39) N34Y probably damaging Het
Cd300ld2 T A 11: 114,903,219 (GRCm39) probably benign Het
Cntnap5a G A 1: 116,017,082 (GRCm39) R225H probably benign Het
Cntnap5c A T 17: 58,409,103 (GRCm39) D447V probably damaging Het
Cpne7 T C 8: 123,852,392 (GRCm39) probably benign Het
Dap3 G A 3: 88,836,725 (GRCm39) T92I probably benign Het
Dnmbp A G 19: 43,855,994 (GRCm39) L254P probably damaging Het
Egfem1 G A 3: 29,705,045 (GRCm39) probably null Het
Fam120b T C 17: 15,622,847 (GRCm39) L275P possibly damaging Het
Fam161a A T 11: 22,970,026 (GRCm39) H68L probably benign Het
Fam193a A G 5: 34,568,001 (GRCm39) E100G possibly damaging Het
Ftmt A T 18: 52,465,125 (GRCm39) D147V possibly damaging Het
Gm10136 T C 19: 28,981,122 (GRCm39) K41E probably benign Het
Gm10797 C T 10: 67,408,397 (GRCm39) noncoding transcript Het
Hsf1 A G 15: 76,380,281 (GRCm39) probably benign Het
Ipo8 A G 6: 148,701,278 (GRCm39) V514A probably damaging Het
Itfg2 T C 6: 128,387,344 (GRCm39) H422R probably benign Het
Lrp4 G T 2: 91,336,404 (GRCm39) L1738F probably damaging Het
Matcap2 T C 9: 22,335,475 (GRCm39) I31T probably benign Het
Mettl17 A G 14: 52,128,843 (GRCm39) E371G probably damaging Het
Mfsd6 A T 1: 52,747,503 (GRCm39) L454Q probably damaging Het
Myh10 A T 11: 68,680,938 (GRCm39) E956V probably damaging Het
Ncoa1 A T 12: 4,324,944 (GRCm39) M1K probably null Het
Or2d3c A C 7: 106,525,823 (GRCm39) V281G probably damaging Het
Or52e4 A G 7: 104,706,152 (GRCm39) D233G probably benign Het
Or5d36 T A 2: 87,901,571 (GRCm39) N52Y probably benign Het
Otop1 T A 5: 38,435,045 (GRCm39) C89S probably benign Het
Pitrm1 G T 13: 6,623,181 (GRCm39) R775L probably benign Het
Prpf19 A G 19: 10,882,458 (GRCm39) T512A probably benign Het
Prpf4b T A 13: 35,067,944 (GRCm39) S258T probably benign Het
Rhbdl2 T C 4: 123,716,630 (GRCm39) Y196H probably damaging Het
Rnf187 T C 11: 58,828,006 (GRCm39) D148G probably damaging Het
Sbds A G 5: 130,279,782 (GRCm39) I74T probably damaging Het
Sec63 T C 10: 42,686,884 (GRCm39) V468A probably damaging Het
Slc35b3 A T 13: 39,139,758 (GRCm39) M23K probably damaging Het
Slc6a9 A T 4: 117,721,210 (GRCm39) Y208F probably benign Het
Slfn8 A T 11: 82,895,324 (GRCm39) L494Q probably damaging Het
Sorcs1 T G 19: 50,218,683 (GRCm39) M600L probably benign Het
Supt7l T C 5: 31,673,022 (GRCm39) probably null Het
Tecrl T A 5: 83,502,639 (GRCm39) Q70L probably damaging Het
Tedc2 A T 17: 24,437,140 (GRCm39) probably benign Het
Tespa1 A G 10: 130,191,353 (GRCm39) D99G probably damaging Het
Tmem126b G T 7: 90,118,269 (GRCm39) Q204K probably damaging Het
Tmem181c-ps A T 17: 6,887,766 (GRCm39) noncoding transcript Het
Tmem184a G T 5: 139,798,856 (GRCm39) T31K possibly damaging Het
Tmprss11e T A 5: 86,867,660 (GRCm39) I137F possibly damaging Het
Tmprss13 C T 9: 45,247,403 (GRCm39) T255I probably damaging Het
Top1mt G A 15: 75,537,555 (GRCm39) probably benign Het
Treh C T 9: 44,594,258 (GRCm39) T168I probably benign Het
Ttn A T 2: 76,597,672 (GRCm39) I11420N probably benign Het
Zp2 T C 7: 119,731,641 (GRCm39) K705E possibly damaging Het
Zw10 T C 9: 48,980,054 (GRCm39) I395T probably damaging Het
Other mutations in Apoc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02211:Apoc3 APN 9 46,144,513 (GRCm39) unclassified probably benign
R4767:Apoc3 UTSW 9 46,145,833 (GRCm39) nonsense probably null
R8104:Apoc3 UTSW 9 46,144,585 (GRCm39) missense probably damaging 0.99
R9050:Apoc3 UTSW 9 46,144,592 (GRCm39) missense probably benign 0.02
R9072:Apoc3 UTSW 9 46,144,532 (GRCm39) missense probably benign 0.01
R9073:Apoc3 UTSW 9 46,144,532 (GRCm39) missense probably benign 0.01
R9130:Apoc3 UTSW 9 46,146,481 (GRCm39) missense unknown
R9741:Apoc3 UTSW 9 46,145,998 (GRCm39) missense unknown
Posted On 2015-04-16