Incidental Mutation 'R7007:Apoc2'
ID 544771
Institutional Source Beutler Lab
Gene Symbol Apoc2
Ensembl Gene ENSMUSG00000002992
Gene Name apolipoprotein C2
Synonyms
MMRRC Submission 045109-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R7007 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 19405504-19411866 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 19407282 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 26 (D26E)
Ref Sequence ENSEMBL: ENSMUSP00000114512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003071] [ENSMUST00000003074] [ENSMUST00000127648] [ENSMUST00000134116] [ENSMUST00000142352] [ENSMUST00000150569]
AlphaFold Q05020
Predicted Effect probably benign
Transcript: ENSMUST00000003071
SMART Domains Protein: ENSMUSP00000003071
Gene: ENSMUSG00000074336

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:APOC4 28 121 9.6e-56 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000003074
AA Change: D26E

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000003074
Gene: ENSMUSG00000002992
AA Change: D26E

DomainStartEndE-ValueType
Pfam:Apo-CII 20 97 4.4e-46 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000127648
AA Change: D26E

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118305
Gene: ENSMUSG00000109350
AA Change: D26E

DomainStartEndE-ValueType
Pfam:Apo-CII 20 68 2.7e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000134116
AA Change: D26E

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118291
Gene: ENSMUSG00000002992
AA Change: D26E

DomainStartEndE-ValueType
Pfam:Apo-CII 20 97 4.4e-46 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000142352
AA Change: D26E

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000115173
Gene: ENSMUSG00000002992
AA Change: D26E

DomainStartEndE-ValueType
Pfam:Apo-CII 21 97 1.8e-42 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000150569
AA Change: D26E

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114512
Gene: ENSMUSG00000109350
AA Change: D26E

DomainStartEndE-ValueType
Pfam:Apo-CII 20 97 4.4e-46 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 95% (63/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is secreted in plasma where it is a component of very low density lipoprotein. This protein activates the enzyme lipoprotein lipase, which hydrolyzes triglycerides and thus provides free fatty acids for cells. Mutations in this gene cause hyperlipoproteinemia type IB, characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring upstream apolipoprotein C-IV (APOC4) gene. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for an endonuclease-mediated allele exhibit increased circulating triglyceride, decreased circulating HDL cholesterol, and abnormal lipoprotein levels. Mice heterozygous for the allele exhibit an intermediate phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik C T 14: 35,817,121 (GRCm39) T57I probably benign Het
Adcy8 T C 15: 64,576,565 (GRCm39) N999S possibly damaging Het
Adgrv1 T A 13: 81,684,483 (GRCm39) I1073F possibly damaging Het
Akap3 A G 6: 126,843,439 (GRCm39) D686G probably damaging Het
Alg2 A T 4: 47,471,881 (GRCm39) I309N probably benign Het
Ankrd36 A G 11: 5,639,168 (GRCm39) E1360G probably benign Het
Aox1 C A 1: 58,370,051 (GRCm39) Q788K probably damaging Het
Bbx G A 16: 50,022,851 (GRCm39) T703I possibly damaging Het
C2cd4d T C 3: 94,271,378 (GRCm39) Y215H probably benign Het
C3 C T 17: 57,525,809 (GRCm39) E858K probably benign Het
Ciita T C 16: 10,329,171 (GRCm39) L482P probably damaging Het
Cldn9 T C 17: 23,902,052 (GRCm39) E191G probably benign Het
Cnst T A 1: 179,438,133 (GRCm39) S566T probably damaging Het
Col5a2 A G 1: 45,417,609 (GRCm39) I1322T possibly damaging Het
Cp G A 3: 20,024,137 (GRCm39) V326M probably damaging Het
Cyp7b1 G A 3: 18,151,782 (GRCm39) Q144* probably null Het
Dnah10 T C 5: 124,864,490 (GRCm39) S2232P probably damaging Het
Dnah17 T C 11: 118,009,697 (GRCm39) E625G possibly damaging Het
Dnah7c T A 1: 46,571,910 (GRCm39) D794E probably benign Het
Dusp10 G A 1: 183,769,414 (GRCm39) V127M probably benign Het
Dysf G C 6: 84,090,962 (GRCm39) W1015C probably damaging Het
Fbxw17 T C 13: 50,577,808 (GRCm39) Y104H probably damaging Het
Gm6408 G A 5: 146,420,647 (GRCm39) E176K probably damaging Het
Gp1bb T A 16: 18,439,689 (GRCm39) D135V possibly damaging Het
Gprin1 C T 13: 54,886,069 (GRCm39) C735Y probably damaging Het
Heatr9 T A 11: 83,411,446 (GRCm39) M30L possibly damaging Het
Hhat G A 1: 192,376,134 (GRCm39) T333I possibly damaging Het
Htr5b A G 1: 121,438,223 (GRCm39) F336S probably damaging Het
Ippk T G 13: 49,590,181 (GRCm39) probably null Het
Jph1 T A 1: 17,074,410 (GRCm39) H11L possibly damaging Het
Kif12 T A 4: 63,084,717 (GRCm39) I534L probably benign Het
Lemd3 A T 10: 120,788,137 (GRCm39) F523I probably benign Het
Lgsn C A 1: 31,229,508 (GRCm39) H76Q probably benign Het
Lipm T A 19: 34,089,497 (GRCm39) W152R probably damaging Het
Mei1 A T 15: 81,978,200 (GRCm39) R216W probably damaging Het
Mybpc1 C T 10: 88,389,274 (GRCm39) G379S probably damaging Het
Myh8 A G 11: 67,179,142 (GRCm39) T512A probably benign Het
Nf1 A G 11: 79,337,849 (GRCm39) probably null Het
Npc1 T C 18: 12,343,605 (GRCm39) T463A probably benign Het
Or12e10 A G 2: 87,640,230 (GRCm39) N22S probably damaging Het
Or2y13 G A 11: 49,415,011 (GRCm39) V154M probably benign Het
Or6c7 A T 10: 129,323,277 (GRCm39) I133F probably damaging Het
Osbpl11 T G 16: 33,047,309 (GRCm39) I424R possibly damaging Het
Pnma8b A T 7: 16,680,181 (GRCm39) K388N possibly damaging Het
Ppp1r26 A T 2: 28,341,171 (GRCm39) K267I probably damaging Het
Psmb5 A T 14: 54,854,166 (GRCm39) M104K probably damaging Het
Ptges2 T C 2: 32,292,318 (GRCm39) V378A probably benign Het
Rcan2 C T 17: 44,147,216 (GRCm39) S18F probably benign Het
Saxo5 A T 8: 3,526,309 (GRCm39) D154V probably damaging Het
Sf3b2 C T 19: 5,324,545 (GRCm39) R859Q probably benign Het
Slc7a1 G A 5: 148,289,256 (GRCm39) Het
Spata31d1a T A 13: 59,851,448 (GRCm39) T227S probably benign Het
Sptbn2 T A 19: 4,794,173 (GRCm39) V1459E possibly damaging Het
Srgap2 T C 1: 131,247,275 (GRCm39) I586V probably benign Het
St6galnac1 G A 11: 116,657,833 (GRCm39) R356* probably null Het
Taf5 T A 19: 47,059,650 (GRCm39) F265I probably damaging Het
Tkfc T A 19: 10,573,727 (GRCm39) I229L probably benign Het
Tmem132c T A 5: 127,436,679 (GRCm39) L56Q probably damaging Het
Togaram2 C T 17: 72,016,638 (GRCm39) A665V probably damaging Het
Ttn G A 2: 76,537,390 (GRCm39) T34846I probably benign Het
Tyr G A 7: 87,142,548 (GRCm39) A4V probably benign Het
Ubap2 A C 4: 41,206,221 (GRCm39) F549L probably damaging Het
Usp2 T C 9: 44,001,339 (GRCm39) S294P probably damaging Het
Vrk3 A G 7: 44,407,187 (GRCm39) N53D probably damaging Het
Zfp324 T C 7: 12,705,142 (GRCm39) S444P probably damaging Het
Zfp597 T C 16: 3,683,791 (GRCm39) I322V probably benign Het
Other mutations in Apoc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0609:Apoc2 UTSW 7 19,407,278 (GRCm39) missense probably benign
R6248:Apoc2 UTSW 7 19,407,493 (GRCm39) missense probably benign 0.00
RF009:Apoc2 UTSW 7 19,405,767 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TGTGCATATGCCGGGATCTG -3'
(R):5'- CTTAATGCTCCAGGTCCCAG -3'

Sequencing Primer
(F):5'- TTGGCAGAGGTCCAGTAA -3'
(R):5'- TCCAGGTCCCAGACAGCATG -3'
Posted On 2019-05-13