Incidental Mutation 'R7054:Apod'
ID 547806
Institutional Source Beutler Lab
Gene Symbol Apod
Ensembl Gene ENSMUSG00000022548
Gene Name apolipoprotein D
Synonyms
MMRRC Submission 045151-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.328) question?
Stock # R7054 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 31115010-31133626 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31129950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 2 (V2A)
Ref Sequence ENSEMBL: ENSMUSP00000119827 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115230] [ENSMUST00000130560]
AlphaFold P51910
Predicted Effect probably benign
Transcript: ENSMUST00000115230
AA Change: V2A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110885
Gene: ENSMUSG00000022548
AA Change: V2A

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 benign
Transcript: ENSMUST00000130560
AA Change: V2A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119827
Gene: ENSMUSG00000022548
AA Change: V2A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 94% (67/71)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T A 4: 88,786,486 (GRCm39) H44L unknown Het
Abcc3 T C 11: 94,256,051 (GRCm39) K478R probably benign Het
Ank2 A T 3: 126,736,952 (GRCm39) probably benign Het
Armh4 C A 14: 50,011,155 (GRCm39) S184I probably damaging Het
Aspg T A 12: 112,092,824 (GRCm39) D530E probably damaging Het
Atxn7 A T 14: 14,100,878 (GRCm38) T855S probably benign Het
Blmh G C 11: 76,859,451 (GRCm39) G351R probably damaging Het
Cc2d2a C T 5: 43,857,321 (GRCm39) R454* probably null Het
Cenpp T C 13: 49,619,233 (GRCm39) E188G probably damaging Het
Cimip3 A G 17: 47,748,114 (GRCm39) probably null Het
Creg2 T C 1: 39,662,376 (GRCm39) E252G probably benign Het
Dot1l A G 10: 80,622,857 (GRCm39) Y636C probably damaging Het
Dpy30 A G 17: 74,614,835 (GRCm39) I36T probably benign Het
Eed A G 7: 89,613,935 (GRCm39) probably null Het
Fmn1 A G 2: 113,195,353 (GRCm39) D351G unknown Het
Fra10ac1 C T 19: 38,212,567 (GRCm39) probably benign Het
Gdpd4 T A 7: 97,623,136 (GRCm39) I249N probably damaging Het
Glb1l2 A T 9: 26,676,423 (GRCm39) V600D probably null Het
Gm13889 A T 2: 93,787,459 (GRCm39) probably benign Het
Gm17654 T A 14: 43,813,327 (GRCm39) N188Y Het
Gm3327 T C 14: 44,363,732 (GRCm39) F112S Het
H2-Ab1 T C 17: 34,482,316 (GRCm39) S11P probably benign Het
Hcn4 T C 9: 58,763,000 (GRCm39) S522P unknown Het
Hfm1 T C 5: 107,043,909 (GRCm39) T576A probably benign Het
Hoxa1 A G 6: 52,135,180 (GRCm39) S8P probably damaging Het
Hoxd13 A G 2: 74,499,369 (GRCm39) Y239C probably damaging Het
Ifih1 T A 2: 62,440,859 (GRCm39) I485L probably benign Het
Ift52 G A 2: 162,871,716 (GRCm39) V183M probably damaging Het
Ikbkb A G 8: 23,161,658 (GRCm39) V410A possibly damaging Het
Il22ra1 G A 4: 135,478,473 (GRCm39) V515I probably benign Het
Klk1b3 A T 7: 43,850,863 (GRCm39) I132F probably damaging Het
Limk2 T C 11: 3,305,448 (GRCm39) T206A possibly damaging Het
Llph A T 10: 120,067,240 (GRCm39) probably benign Het
Lrrc26 T A 2: 25,180,087 (GRCm39) D29E probably benign Het
Ltbp4 A G 7: 27,007,191 (GRCm39) probably null Het
Mageb3 A T 2: 121,784,973 (GRCm39) V243E probably damaging Het
Mfhas1 T C 8: 36,055,792 (GRCm39) V89A probably benign Het
Mycbp2 G A 14: 103,393,534 (GRCm39) T2899I possibly damaging Het
Nckap5 A T 1: 126,186,449 (GRCm39) probably null Het
Ncor1 T C 11: 62,275,619 (GRCm39) D530G probably null Het
Or10ag55-ps1 T A 2: 87,114,775 (GRCm39) M47K probably benign Het
Or56a3b C T 7: 104,771,170 (GRCm39) R169* probably null Het
Pax4 A G 6: 28,446,322 (GRCm39) I57T probably damaging Het
Peg12 T C 7: 62,113,711 (GRCm39) I129V possibly damaging Het
Pex6 G A 17: 47,031,447 (GRCm39) A416T probably benign Het
Pgghg G A 7: 140,524,631 (GRCm39) R326H probably benign Het
Pgk2 T A 17: 40,519,366 (GRCm39) M21L probably benign Het
Polh A T 17: 46,509,642 (GRCm39) W64R probably benign Het
Rassf7 T A 7: 140,797,556 (GRCm39) H256Q probably benign Het
Rc3h2 A G 2: 37,265,258 (GRCm39) M1184T probably benign Het
Ror1 A T 4: 100,299,436 (GRCm39) E936D probably benign Het
Skic3 G A 13: 76,283,079 (GRCm39) A769T probably damaging Het
Slco1b2 A T 6: 141,617,974 (GRCm39) T440S probably damaging Het
Specc1 T A 11: 62,008,604 (GRCm39) V40E probably damaging Het
Tarbp1 T A 8: 127,201,234 (GRCm39) S191C possibly damaging Het
Timm22 A G 11: 76,298,071 (GRCm39) E14G possibly damaging Het
Tpp2 T A 1: 44,022,318 (GRCm39) D905E probably damaging Het
Trav7-5 T C 14: 53,768,756 (GRCm39) L108P probably damaging Het
Ttc9b A G 7: 27,353,667 (GRCm39) T106A probably benign Het
Ttn T C 2: 76,545,012 (GRCm39) S32697G probably damaging Het
Usp17la T G 7: 104,510,514 (GRCm39) L373R probably benign Het
Vmn1r113 A G 7: 20,521,427 (GRCm39) N73S probably benign Het
Vmn1r42 T C 6: 89,822,051 (GRCm39) T173A possibly damaging Het
Vmn2r106 A G 17: 20,499,182 (GRCm39) V243A probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r25 T A 6: 123,800,569 (GRCm39) D591V probably damaging Het
Zc3h13 T C 14: 75,559,227 (GRCm39) S379P probably benign Het
Zfp870 T C 17: 33,102,456 (GRCm39) Y292C probably damaging Het
Zfp977 A T 7: 42,229,786 (GRCm39) N246K possibly damaging Het
Zp1 G A 19: 10,896,104 (GRCm39) T207M 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
R5543:Apod UTSW 16 31,122,351 (GRCm39) critical splice acceptor site probably null
Z1177:Apod UTSW 16 31,116,338 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCGAACCTCTTAGCATGCTC -3'
(R):5'- TTGAAAAGAGGTATCAAGGCTCTG -3'

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