Incidental Mutation 'R0581:Apold1'
ID 56419
Institutional Source Beutler Lab
Gene Symbol Apold1
Ensembl Gene ENSMUSG00000090698
Gene Name apolipoprotein L domain containing 1
Synonyms LOC381823
MMRRC Submission 038771-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # R0581 (G1)
Quality Score 114
Status Validated
Chromosome 6
Chromosomal Location 134958964-134963799 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 134960776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 77 (V77I)
Ref Sequence ENSEMBL: ENSMUSP00000132366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167323]
AlphaFold E9Q0X2
Predicted Effect probably benign
Transcript: ENSMUST00000167323
AA Change: V77I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000132366
Gene: ENSMUSG00000090698
AA Change: V77I

DomainStartEndE-ValueType
Pfam:ApoL 16 143 1.5e-16 PFAM
coiled coil region 192 220 N/A INTRINSIC
Meta Mutation Damage Score 0.1029 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.3%
  • 20x: 93.7%
Validation Efficiency 95% (42/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] APOLD1 is an endothelial cell early response protein that may play a role in regulation of endothelial cell signaling and vascular function (Regard et al., 2004 [PubMed 15102925]).[supplied by OMIM, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 A G 5: 4,100,620 (GRCm39) T2761A probably benign Het
Atad2 T C 15: 57,990,060 (GRCm39) T139A probably benign Het
Cacna1a A T 8: 85,328,565 (GRCm39) I1668F possibly damaging Het
Ccer2 T A 7: 28,456,451 (GRCm39) probably benign Het
Cyp2c54 T A 19: 40,035,999 (GRCm39) T304S probably benign Het
Dpp4 T A 2: 62,187,020 (GRCm39) M497L probably benign Het
Evpl T A 11: 116,120,316 (GRCm39) I541L probably benign Het
Ggn A G 7: 28,871,729 (GRCm39) T370A probably benign Het
Ghr A G 15: 3,418,116 (GRCm39) probably benign Het
Gm6605 C A 7: 38,147,699 (GRCm39) noncoding transcript Het
Gpr68 G C 12: 100,844,815 (GRCm39) P243R probably damaging Het
Gtf3c2 G T 5: 31,316,862 (GRCm39) Y720* probably null Het
Il2rb T A 15: 78,366,136 (GRCm39) Y387F possibly damaging Het
Kcnu1 T A 8: 26,427,529 (GRCm39) V282E probably damaging Het
Krt222 G A 11: 99,127,018 (GRCm39) Q201* probably null Het
Lats1 A G 10: 7,578,705 (GRCm39) T610A possibly damaging Het
Mroh2a GT GTT 1: 88,183,888 (GRCm39) probably null Het
Myh7 T C 14: 55,222,953 (GRCm39) I751V probably benign Het
Mypn A G 10: 62,998,023 (GRCm39) I429T probably benign Het
Nemf A T 12: 69,369,045 (GRCm39) D723E probably benign Het
Nlrp4b T C 7: 10,448,457 (GRCm39) L220P probably damaging Het
Npr3 T A 15: 11,851,536 (GRCm39) D418V probably damaging Het
Nsd3 A G 8: 26,200,718 (GRCm39) N1270S probably damaging Het
Or1j15 T C 2: 36,458,834 (GRCm39) S75P probably damaging Het
Or2g1 A G 17: 38,106,993 (GRCm39) I219M probably damaging Het
Otogl G A 10: 107,624,901 (GRCm39) T1579I possibly damaging Het
Pkp2 T A 16: 16,087,647 (GRCm39) probably benign Het
Psd3 T C 8: 68,173,598 (GRCm39) Y301C probably damaging Het
Psmb4 T C 3: 94,793,479 (GRCm39) H134R probably damaging Het
Ralgapb A G 2: 158,334,881 (GRCm39) T1043A probably benign Het
Sec14l5 T A 16: 4,996,349 (GRCm39) probably null Het
Serpina12 T A 12: 103,997,399 (GRCm39) Q374L probably damaging Het
Serpinb10 C T 1: 107,474,692 (GRCm39) R362* probably null Het
Sorcs1 T A 19: 50,241,139 (GRCm39) I416F possibly damaging Het
Sparcl1 T C 5: 104,241,178 (GRCm39) D82G probably damaging Het
Stat6 A T 10: 127,483,985 (GRCm39) Q89L probably damaging Het
Tat A G 8: 110,718,270 (GRCm39) T52A possibly damaging Het
Yipf7 T A 5: 69,678,406 (GRCm39) I128F probably benign Het
Zfp112 T A 7: 23,825,288 (GRCm39) C419S probably damaging Het
Zzef1 A G 11: 72,742,726 (GRCm39) I769V probably benign Het
Other mutations in Apold1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4013:Apold1 UTSW 6 134,960,869 (GRCm39) missense probably benign
R4016:Apold1 UTSW 6 134,960,869 (GRCm39) missense probably benign
R4017:Apold1 UTSW 6 134,960,869 (GRCm39) missense probably benign
R4599:Apold1 UTSW 6 134,961,032 (GRCm39) missense probably damaging 1.00
R4909:Apold1 UTSW 6 134,960,558 (GRCm39) missense probably benign 0.00
R5154:Apold1 UTSW 6 134,960,636 (GRCm39) missense possibly damaging 0.62
R5275:Apold1 UTSW 6 134,960,763 (GRCm39) missense probably damaging 1.00
R5850:Apold1 UTSW 6 134,961,058 (GRCm39) missense probably damaging 0.99
R5958:Apold1 UTSW 6 134,960,686 (GRCm39) missense probably damaging 1.00
R6802:Apold1 UTSW 6 134,960,693 (GRCm39) missense probably damaging 1.00
R6867:Apold1 UTSW 6 134,961,019 (GRCm39) missense possibly damaging 0.60
R7012:Apold1 UTSW 6 134,961,007 (GRCm39) missense probably damaging 1.00
R8223:Apold1 UTSW 6 134,961,148 (GRCm39) missense probably benign 0.00
R9347:Apold1 UTSW 6 134,960,999 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTCGGGCTAACTGTGCGTCTATG -3'
(R):5'- TGCCACTGACAGAAGAACTCCAGG -3'

Sequencing Primer
(F):5'- GCGCTTCCAAGGATTGCTG -3'
(R):5'- GAACTCCAGGCAGCTCAG -3'
Posted On 2013-07-11