Incidental Mutation 'R5543:Apod'
ID 436124
Institutional Source Beutler Lab
Gene Symbol Apod
Ensembl Gene ENSMUSG00000022548
Gene Name apolipoprotein D
Synonyms
MMRRC Submission 043101-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.328) question?
Stock # R5543 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 31115010-31133626 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to C at 31122351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119827 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115230] [ENSMUST00000130560]
AlphaFold P51910
Predicted Effect noncoding transcript
Transcript: ENSMUST00000023207
Predicted Effect probably null
Transcript: ENSMUST00000115230
SMART Domains Protein: ENSMUSP00000110885
Gene: ENSMUSG00000022548

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Lipocalin_2 37 182 3.8e-29 PFAM
Pfam:Lipocalin 43 184 2.8e-25 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000130560
SMART Domains Protein: ENSMUSP00000119827
Gene: ENSMUSG00000022548

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Lipocalin_2 37 182 3.8e-29 PFAM
Pfam:Lipocalin 43 184 2.8e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145837
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155682
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156456
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a component of high-density lipoprotein (HDL), but is unique in that it shares greater structural similarity to lipocalin than to other members of the apolipoprotein family, and has a wider tissue expression pattern. The encoded protein is involved in lipid metabolism, and ablation of this gene results in defects in triglyceride metabolism. Elevated levels of this gene product have been observed in multiple tissues of Niemann-Pick disease mouse models, as well as in some tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for one null allele display increased sensitivity to reactive oxygen species, impaired motor and spatial learning, and decreased vertical and horizontal activity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik C A 7: 127,836,353 (GRCm39) S80I probably benign Het
Aak1 T C 6: 86,959,627 (GRCm39) probably null Het
Abcc6 A G 7: 45,638,960 (GRCm39) probably null Het
Acvr1 A G 2: 58,353,157 (GRCm39) S268P probably damaging Het
Atp5po T C 16: 91,723,418 (GRCm39) I58V probably benign Het
AU040320 C T 4: 126,735,017 (GRCm39) T777M probably damaging Het
Ccne2 A T 4: 11,194,026 (GRCm39) N89I probably benign Het
Cspg4b C A 13: 113,457,407 (GRCm39) T1151K probably damaging Het
Dnah7a A G 1: 53,543,228 (GRCm39) V2314A probably damaging Het
Dop1b T C 16: 93,595,808 (GRCm39) S1881P probably damaging Het
E4f1 A G 17: 24,666,336 (GRCm39) V24A possibly damaging Het
Esrrg A T 1: 187,882,451 (GRCm39) D236V probably damaging Het
Fam240b T A 13: 64,633,736 (GRCm39) I27F possibly damaging Het
Fat1 T A 8: 45,476,516 (GRCm39) I1854N probably damaging Het
Fchsd2 T C 7: 100,920,906 (GRCm39) Y480H probably damaging Het
Fras1 A G 5: 96,676,394 (GRCm39) N47S probably benign Het
Gabrr3 T C 16: 59,253,870 (GRCm39) S196P probably damaging Het
Gbp8 T A 5: 105,165,696 (GRCm39) D319V possibly damaging Het
Hrh3 G T 2: 179,745,763 (GRCm39) A61E probably damaging Het
Idua T C 5: 108,818,095 (GRCm39) I89T probably benign Het
Ifitm3 T A 7: 140,589,730 (GRCm39) I108F unknown Het
Izumo4 T C 10: 80,538,668 (GRCm39) F40S probably damaging Het
Kifc2 A G 15: 76,551,242 (GRCm39) R679G probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Ldha A T 7: 46,500,314 (GRCm39) I171F possibly damaging Het
Lrfn4 T C 19: 4,662,191 (GRCm39) S609G probably benign Het
Mmp15 T C 8: 96,094,729 (GRCm39) F201S possibly damaging Het
Myof C T 19: 37,969,778 (GRCm39) V295I probably benign Het
Or1n2 C T 2: 36,797,369 (GRCm39) T137I possibly damaging Het
Or2z2 T A 11: 58,345,993 (GRCm39) M261L probably damaging Het
Or5m12 G T 2: 85,734,672 (GRCm39) A242D probably damaging Het
Parp14 T C 16: 35,655,137 (GRCm39) D1778G probably benign Het
Pcnt A T 10: 76,247,886 (GRCm39) D969E probably benign Het
Pibf1 A T 14: 99,350,428 (GRCm39) N192I probably benign Het
Pitpnm3 A G 11: 71,947,023 (GRCm39) F792S probably damaging Het
Pkd2 T A 5: 104,637,199 (GRCm39) I604N probably damaging Het
Pla2g15 T C 8: 106,887,775 (GRCm39) Y188H probably damaging Het
Plxnc1 G T 10: 94,700,636 (GRCm39) D643E probably benign Het
Prrc2c G A 1: 162,501,080 (GRCm39) P1241L probably damaging Het
Ptprd T C 4: 75,977,990 (GRCm39) E173G probably damaging Het
Shank3 T C 15: 89,416,557 (GRCm39) V232A probably damaging Het
Shbg A G 11: 69,507,564 (GRCm39) I171T probably damaging Het
Slc22a14 A T 9: 119,002,674 (GRCm39) F404L probably benign Het
Slc37a3 C A 6: 39,331,960 (GRCm39) G158C probably damaging Het
Slfn9 C A 11: 82,873,207 (GRCm39) L565F probably damaging Het
Spmip10 G A 18: 56,727,760 (GRCm39) probably benign Het
Trank1 T A 9: 111,195,180 (GRCm39) M1068K probably damaging Het
Trbv15 A T 6: 41,118,187 (GRCm39) I15L probably benign Het
Ttn C T 2: 76,569,918 (GRCm39) V26992M probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ugt2b34 T A 5: 87,054,560 (GRCm39) I74F probably damaging Het
Vamp3 A G 4: 151,135,477 (GRCm39) L47P probably damaging Het
Zfp143 T A 7: 109,682,522 (GRCm39) C363* probably null Het
Zfp438 T C 18: 5,213,761 (GRCm39) E399G probably damaging Het
Other mutations in Apod
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4195:Apod UTSW 16 31,116,392 (GRCm39) missense probably benign 0.39
R4619:Apod UTSW 16 31,116,211 (GRCm39) missense probably benign 0.38
R4620:Apod UTSW 16 31,116,211 (GRCm39) missense probably benign 0.38
R4757:Apod UTSW 16 31,122,280 (GRCm39) missense probably damaging 1.00
R5290:Apod UTSW 16 31,129,884 (GRCm39) missense probably damaging 0.96
R5363:Apod UTSW 16 31,129,909 (GRCm39) missense probably benign 0.00
R7054:Apod UTSW 16 31,129,950 (GRCm39) missense probably benign
Z1177:Apod UTSW 16 31,116,338 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCCTAGTTTGAGTAGCTCACAC -3'
(R):5'- AATCATTGCCCGCACATCCG -3'

Sequencing Primer
(F):5'- GAGTAGCTCACACCCTCTCCG -3'
(R):5'- CCGCATCATTTATTCTCATTTGAAAC -3'
Posted On 2016-10-24