Incidental Mutation 'R6106:Apoa5'
ID 485514
Institutional Source Beutler Lab
Gene Symbol Apoa5
Ensembl Gene ENSMUSG00000032079
Gene Name apolipoprotein A-V
Synonyms 1300007O05Rik, RAP3, Apoav
MMRRC Submission 044256-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6106 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 46179931-46183217 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 46181931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 336 (R336*)
Ref Sequence ENSEMBL: ENSMUSP00000113413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034584] [ENSMUST00000121598] [ENSMUST00000215187] [ENSMUST00000213878] [ENSMUST00000215458] [ENSMUST00000156440] [ENSMUST00000214202]
AlphaFold Q8C7G5
Predicted Effect probably null
Transcript: ENSMUST00000034584
AA Change: R336*
SMART Domains Protein: ENSMUSP00000034584
Gene: ENSMUSG00000032079
AA Change: R336*

DomainStartEndE-ValueType
Pfam:Apolipoprotein 52 264 5.1e-59 PFAM
Pfam:Apolipoprotein 258 315 1.8e-3 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114552
SMART Domains Protein: ENSMUSP00000110199
Gene: ENSMUSG00000032078

DomainStartEndE-ValueType
Zpr1 12 150 5.57e-30 SMART
Zpr1 184 343 4.27e-90 SMART
Predicted Effect probably null
Transcript: ENSMUST00000121598
AA Change: R336*
SMART Domains Protein: ENSMUSP00000113413
Gene: ENSMUSG00000032079
AA Change: R336*

DomainStartEndE-ValueType
Pfam:Apolipoprotein 51 305 8.1e-66 PFAM
low complexity region 312 323 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125239
SMART Domains Protein: ENSMUSP00000123437
Gene: ENSMUSG00000032078

DomainStartEndE-ValueType
low complexity region 11 32 N/A INTRINSIC
Blast:Zpr1 33 59 2e-12 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125791
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141763
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215484
Predicted Effect probably benign
Transcript: ENSMUST00000215187
Predicted Effect probably benign
Transcript: ENSMUST00000213878
Predicted Effect probably benign
Transcript: ENSMUST00000215458
Predicted Effect probably benign
Transcript: ENSMUST00000156440
SMART Domains Protein: ENSMUSP00000117725
Gene: ENSMUSG00000032078

DomainStartEndE-ValueType
low complexity region 9 30 N/A INTRINSIC
Zpr1 49 207 1.47e-93 SMART
low complexity region 236 246 N/A INTRINSIC
Zpr1 257 416 4.27e-90 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000214202
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
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 an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutation of this gene results in increased triglyceride and VLDL cholesterol levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace A G 11: 105,879,838 (GRCm39) E726G probably damaging Het
Adgrl4 A G 3: 151,246,622 (GRCm39) I641V possibly damaging Het
Bfsp2 T A 9: 103,357,023 (GRCm39) T135S probably benign Het
Calhm2 A T 19: 47,121,501 (GRCm39) Y223N probably damaging Het
Ccdc158 T C 5: 92,775,325 (GRCm39) E960G probably benign Het
Ccdc80 T C 16: 44,917,073 (GRCm39) S610P probably benign Het
Cdon T A 9: 35,366,704 (GRCm39) Y193* probably null Het
Cept1 A T 3: 106,410,992 (GRCm39) H400Q probably benign Het
Cfap144 T C 11: 58,687,427 (GRCm39) E66G probably damaging Het
Clspn T A 4: 126,484,434 (GRCm39) N1197K probably benign Het
Cnot8 T C 11: 58,004,816 (GRCm39) S172P probably damaging Het
Col14a1 T C 15: 55,383,404 (GRCm39) I1794T probably damaging Het
Cracdl T C 1: 37,652,493 (GRCm39) T1105A possibly damaging Het
Fam193a A T 5: 34,616,374 (GRCm39) T564S possibly damaging Het
Galnt1 G A 18: 24,387,720 (GRCm39) V154I probably benign Het
Gstcd C A 3: 132,704,675 (GRCm39) E526D probably benign Het
Ighv1-42 A C 12: 114,900,907 (GRCm39) S59R probably benign Het
Morn3 A G 5: 123,184,823 (GRCm39) C6R possibly damaging Het
Nrdc A T 4: 108,901,782 (GRCm39) K617M probably damaging Het
Or2aj4 A G 16: 19,385,009 (GRCm39) L208P probably damaging Het
Or51ai2 A G 7: 103,587,400 (GRCm39) H271R probably benign Het
Or8b36 T A 9: 37,937,762 (GRCm39) I220N probably damaging Het
Or8b49 T C 9: 38,506,252 (GRCm39) M245T probably benign Het
Pcdhb11 A G 18: 37,556,056 (GRCm39) N462S probably damaging Het
Pfpl G T 19: 12,406,825 (GRCm39) D359Y probably damaging Het
Phyhip T C 14: 70,699,299 (GRCm39) V34A probably benign Het
Pigu A T 2: 155,139,116 (GRCm39) I313N possibly damaging Het
Plch1 C T 3: 63,609,444 (GRCm39) R912H probably damaging Het
Psg16 T A 7: 16,829,091 (GRCm39) F225Y possibly damaging Het
Setdb2 T A 14: 59,660,898 (GRCm39) K82* probably null Het
Sgms1 A G 19: 32,101,825 (GRCm39) S394P possibly damaging Het
Slc16a1 T C 3: 104,560,310 (GRCm39) L205P probably benign Het
Slc19a1 T A 10: 76,880,603 (GRCm39) I380N probably damaging Het
Snx32 A G 19: 5,548,042 (GRCm39) I131T probably benign Het
Sorbs3 T C 14: 70,430,053 (GRCm39) probably null Het
Stc2 T A 11: 31,310,392 (GRCm39) I215L probably benign Het
Tln2 C T 9: 67,230,302 (GRCm39) A84T probably damaging Het
Tomm34 A G 2: 163,902,911 (GRCm39) M133T probably benign Het
Usp43 A G 11: 67,770,733 (GRCm39) S634P probably benign Het
Vmn2r59 T A 7: 41,661,749 (GRCm39) R689* probably null Het
Vmn2r9 C T 5: 108,992,902 (GRCm39) R536Q probably benign Het
Wdr24 C T 17: 26,043,579 (GRCm39) H134Y probably benign Het
Zfhx2 T A 14: 55,305,767 (GRCm39) probably null Het
Zfp1004 A G 2: 150,034,725 (GRCm39) K349E probably damaging Het
Zfp608 G T 18: 55,120,944 (GRCm39) H214Q possibly damaging Het
Zfp619 T C 7: 39,184,558 (GRCm39) V196A probably benign Het
Other mutations in Apoa5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02084:Apoa5 APN 9 46,181,950 (GRCm39) missense probably damaging 0.98
IGL02089:Apoa5 APN 9 46,180,437 (GRCm39) critical splice donor site probably null
R0046:Apoa5 UTSW 9 46,181,296 (GRCm39) missense probably damaging 1.00
R1722:Apoa5 UTSW 9 46,181,847 (GRCm39) nonsense probably null
R2007:Apoa5 UTSW 9 46,181,665 (GRCm39) missense possibly damaging 0.95
R2356:Apoa5 UTSW 9 46,181,341 (GRCm39) missense probably damaging 0.98
R3739:Apoa5 UTSW 9 46,180,415 (GRCm39) missense probably damaging 1.00
R3835:Apoa5 UTSW 9 46,181,878 (GRCm39) missense probably damaging 1.00
R4364:Apoa5 UTSW 9 46,181,827 (GRCm39) missense probably damaging 1.00
R4657:Apoa5 UTSW 9 46,181,170 (GRCm39) missense probably benign 0.12
R4760:Apoa5 UTSW 9 46,181,593 (GRCm39) missense probably damaging 0.97
R5160:Apoa5 UTSW 9 46,181,794 (GRCm39) missense probably damaging 0.99
R5523:Apoa5 UTSW 9 46,181,887 (GRCm39) missense possibly damaging 0.79
R5915:Apoa5 UTSW 9 46,180,607 (GRCm39) missense probably damaging 1.00
R6849:Apoa5 UTSW 9 46,181,298 (GRCm39) missense probably benign 0.03
R7170:Apoa5 UTSW 9 46,181,437 (GRCm39) missense probably benign 0.00
R9268:Apoa5 UTSW 9 46,181,719 (GRCm39) missense probably benign 0.18
R9403:Apoa5 UTSW 9 46,181,944 (GRCm39) missense probably damaging 1.00
R9495:Apoa5 UTSW 9 46,181,944 (GRCm39) missense probably damaging 1.00
R9499:Apoa5 UTSW 9 46,181,944 (GRCm39) missense probably damaging 1.00
Z1177:Apoa5 UTSW 9 46,180,417 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- CAGAGACTGCAGGCTTTTCG -3'
(R):5'- TGAGTGTAATGCCCCTGAGTAGG -3'

Sequencing Primer
(F):5'- AGGCTTTTCGGCATGACAC -3'
(R):5'- TTGGGACAGCAGCACCTTTG -3'
Posted On 2017-08-16