Incidental Mutation 'R9741:Apoc3'
ID 731838
Institutional Source Beutler Lab
Gene Symbol Apoc3
Ensembl Gene ENSMUSG00000032081
Gene Name apolipoprotein C-III
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R9741 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 46144348-46146934 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 46145998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 5 (T5K)
Ref Sequence ENSEMBL: ENSMUSP00000034586 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034586] [ENSMUST00000034588] [ENSMUST00000118649] [ENSMUST00000121916] [ENSMUST00000132155] [ENSMUST00000145672]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000034586
AA Change: T5K
SMART Domains Protein: ENSMUSP00000034586
Gene: ENSMUSG00000032081
AA Change: T5K

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 unknown
Transcript: ENSMUST00000118649
AA Change: T5K
SMART Domains Protein: ENSMUSP00000113058
Gene: ENSMUSG00000032081
AA Change: T5K

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Apo-CIII 22 91 2.4e-43 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000121916
AA Change: T43K
SMART Domains Protein: ENSMUSP00000113126
Gene: ENSMUSG00000032081
AA Change: T43K

DomainStartEndE-ValueType
Pfam:Apo-CIII 60 129 7.5e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132155
Predicted Effect unknown
Transcript: ENSMUST00000145672
AA Change: T5K
SMART Domains Protein: ENSMUSP00000115025
Gene: ENSMUSG00000032081
AA Change: T5K

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Apo-CIII 22 53 4.8e-17 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 99.0%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd6 T A 4: 32,860,339 (GRCm39) K35* probably null Het
Arhgap20 T A 9: 51,760,730 (GRCm39) Y860* probably null Het
Arhgef11 T C 3: 87,595,156 (GRCm39) S123P probably benign Het
Armh4 A G 14: 50,008,081 (GRCm39) I464T probably benign Het
Axdnd1 T A 1: 156,169,385 (GRCm39) Y827F probably benign Het
Bbs5 A G 2: 69,484,695 (GRCm39) T122A probably benign Het
Btbd6 T A 12: 112,940,923 (GRCm39) D173E probably benign Het
Cblb T C 16: 51,932,490 (GRCm39) I149T probably damaging Het
Cyp2ab1 G A 16: 20,132,953 (GRCm39) R214C probably damaging Het
Dbn1 C T 13: 55,624,114 (GRCm39) S372N possibly damaging Het
Dlg1 T A 16: 31,676,735 (GRCm39) Y776* probably null Het
Dock9 A T 14: 121,877,516 (GRCm39) I409N probably damaging Het
Ect2 A T 3: 27,156,607 (GRCm39) N815K probably benign Het
Fbxw11 G T 11: 32,685,358 (GRCm39) V398L probably damaging Het
Gcsam T C 16: 45,436,319 (GRCm39) F34S possibly damaging Het
Ghsr G A 3: 27,428,898 (GRCm39) V308I possibly damaging Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
H1f10 A G 6: 87,958,200 (GRCm39) Y47H probably damaging Het
Hspg2 T C 4: 137,239,962 (GRCm39) F510S probably damaging Het
Htr1a T C 13: 105,581,861 (GRCm39) V367A possibly damaging Het
Iars1 T G 13: 49,844,978 (GRCm39) F163C probably damaging Het
Igfn1 T C 1: 135,895,383 (GRCm39) T1728A probably benign Het
Ighv7-3 C T 12: 114,116,995 (GRCm39) V56I probably benign Het
Lrp1b A T 2: 41,002,300 (GRCm39) I2133N Het
Lrrc37 T C 11: 103,504,255 (GRCm39) E2571G possibly damaging Het
Or2d2 A G 7: 106,728,366 (GRCm39) V78A possibly damaging Het
Or52z1 G T 7: 103,436,941 (GRCm39) P181H probably benign Het
Pkd1l1 T C 11: 8,897,224 (GRCm39) T562A Het
Ppp1r10 G A 17: 36,237,331 (GRCm39) R167Q possibly damaging Het
Ppp1r13l C T 7: 19,103,725 (GRCm39) R69W probably damaging Het
Proser2 G A 2: 6,105,580 (GRCm39) A328V probably benign Het
Rhou A G 8: 124,380,914 (GRCm39) Y77C possibly damaging Het
Rprml T A 11: 103,540,857 (GRCm39) L84Q probably damaging Het
Ryr3 C T 2: 112,477,271 (GRCm39) C4515Y probably benign Het
Slc9a3 T A 13: 74,306,994 (GRCm39) I373N possibly damaging Het
Snx21 C T 2: 164,634,231 (GRCm39) A339V probably benign Het
Srpk1 G A 17: 28,818,652 (GRCm39) P395S probably benign Het
Syt14 A T 1: 192,666,449 (GRCm39) S152T unknown Het
Urb2 G T 8: 124,755,751 (GRCm39) R486L probably damaging Het
Utrn T A 10: 12,702,564 (GRCm39) M7L probably benign Het
Vmn2r59 T A 7: 41,708,209 (GRCm39) D66V probably damaging Het
Znrf2 T C 6: 54,855,370 (GRCm39) I197T probably damaging Het
Other mutations in Apoc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02111:Apoc3 APN 9 46,145,772 (GRCm39) missense possibly damaging 0.95
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
Predicted Primers PCR Primer
(F):5'- AGCAAGGATCCCTCTACCTC -3'
(R):5'- AGATGTCCCGTTCTGCAGAG -3'

Sequencing Primer
(F):5'- TCTTCAGCTCCTGCGAGAGAG -3'
(R):5'- AGATGTCCCGTTCTGCAGAGTATTTC -3'
Posted On 2022-11-14