Incidental Mutation 'IGL02677:Akp3'
ID 303165
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akp3
Ensembl Gene ENSMUSG00000036500
Gene Name alkaline phosphatase 3, intestine, not Mn requiring
Synonyms IAP, Akp-3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.217) question?
Stock # IGL02677
Quality Score
Status
Chromosome 1
Chromosomal Location 87052695-87055634 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87052994 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 61 (D61G)
Ref Sequence ENSEMBL: ENSMUSP00000037497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044878]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000044878
AA Change: D61G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037497
Gene: ENSMUSG00000036500
AA Change: D61G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 33 45 N/A INTRINSIC
alkPPc 53 487 1.92e-249 SMART
low complexity region 503 524 N/A INTRINSIC
low complexity region 533 557 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187662
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The intestinal alkaline phosphatase gene encodes a digestive brush-border enzyme. This enzyme is a component of the gut mucosal defense system and is thought to function in the detoxification of lipopolysaccharide, and in the prevention of bacterial translocation in the gut. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for disruption of this gene show no gross abnormalities in appearance, behavior or fertility. They do display accelerated lipid absorption on a high fat diet leading to elevated plasma triglycerides and increased weight gain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik G T 7: 43,150,519 (GRCm39) Y84* probably null Het
Adam5 A G 8: 25,302,395 (GRCm39) probably benign Het
Aipl1 T C 11: 71,920,222 (GRCm39) E282G possibly damaging Het
Anpep A G 7: 79,488,478 (GRCm39) S451P probably damaging Het
Csnka2ip A G 16: 64,298,675 (GRCm39) L119P probably damaging Het
Ddx19a T C 8: 111,716,241 (GRCm39) E53G probably benign Het
Ddx50 C T 10: 62,452,072 (GRCm39) R116Q unknown Het
Ddx60 A T 8: 62,441,166 (GRCm39) E1078D probably damaging Het
Dpy19l1 T C 9: 24,396,368 (GRCm39) D116G probably damaging Het
Dsg4 A G 18: 20,597,933 (GRCm39) T668A possibly damaging Het
Dspp A G 5: 104,323,843 (GRCm39) T329A possibly damaging Het
Eftud2 T C 11: 102,737,440 (GRCm39) T554A probably damaging Het
Enpp1 T C 10: 24,555,083 (GRCm39) probably benign Het
Ext2 A T 2: 93,537,590 (GRCm39) F599I probably damaging Het
Fahd1 A T 17: 25,068,504 (GRCm39) I191N probably damaging Het
Fcrl2 A T 3: 87,166,694 (GRCm39) S100T probably benign Het
Fras1 T A 5: 96,692,883 (GRCm39) C181S probably damaging Het
Garre1 T A 7: 33,941,834 (GRCm39) probably benign Het
Gcnt4 A G 13: 97,083,741 (GRCm39) I346V probably benign Het
Gfra1 G A 19: 58,441,787 (GRCm39) T48I probably damaging Het
Kcnma1 A G 14: 23,513,224 (GRCm39) Y392H probably damaging Het
Klc2 T C 19: 5,161,696 (GRCm39) Y298C probably damaging Het
Lamb3 G A 1: 193,021,830 (GRCm39) V1011I probably benign Het
Ldb1 T C 19: 46,024,594 (GRCm39) probably benign Het
Mcph1 A G 8: 18,675,609 (GRCm39) K11E probably damaging Het
Myc A G 15: 61,861,513 (GRCm39) H374R probably damaging Het
Myom1 A G 17: 71,391,344 (GRCm39) Y853C probably damaging Het
Or4k38 A T 2: 111,166,147 (GRCm39) I92N probably damaging Het
Pakap C T 4: 57,856,263 (GRCm39) P572S probably benign Het
Pclo A G 5: 14,726,943 (GRCm39) probably benign Het
Pde3a G A 6: 141,350,898 (GRCm39) probably benign Het
Per1 T C 11: 68,997,486 (GRCm39) V887A probably benign Het
Prokr1 G A 6: 87,565,350 (GRCm39) probably benign Het
Rb1cc1 A G 1: 6,319,643 (GRCm39) I1021V probably benign Het
Ryr1 T C 7: 28,810,033 (GRCm39) E344G probably benign Het
Sec24c A T 14: 20,739,710 (GRCm39) D529V probably damaging Het
Slc1a6 T C 10: 78,624,898 (GRCm39) V101A probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tap2 G A 17: 34,431,021 (GRCm39) V374M probably benign Het
Tex15 T A 8: 34,061,108 (GRCm39) D179E probably benign Het
Tmem8b T C 4: 43,686,092 (GRCm39) L241P probably damaging Het
Tmprss11g T C 5: 86,640,149 (GRCm39) D160G probably benign Het
Trim30a C T 7: 104,085,120 (GRCm39) C30Y probably damaging Het
Ttn A G 2: 76,601,840 (GRCm39) probably benign Het
Ush2a A G 1: 188,466,882 (GRCm39) R2849G probably damaging Het
Usp5 A G 6: 124,796,389 (GRCm39) V570A probably damaging Het
Vipr1 T C 9: 121,489,349 (GRCm39) probably benign Het
Zc2hc1c A C 12: 85,336,850 (GRCm39) D169A probably benign Het
Other mutations in Akp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01343:Akp3 APN 1 87,054,858 (GRCm39) splice site probably benign
IGL02146:Akp3 APN 1 87,054,297 (GRCm39) missense probably benign 0.00
IGL02216:Akp3 APN 1 87,055,372 (GRCm39) missense probably damaging 1.00
IGL02716:Akp3 APN 1 87,053,201 (GRCm39) missense probably damaging 1.00
IGL02943:Akp3 APN 1 87,054,091 (GRCm39) nonsense probably null
IGL03099:Akp3 APN 1 87,055,328 (GRCm39) missense probably benign 0.14
R0458:Akp3 UTSW 1 87,054,259 (GRCm39) nonsense probably null
R0755:Akp3 UTSW 1 87,055,593 (GRCm39) missense unknown
R0783:Akp3 UTSW 1 87,055,593 (GRCm39) missense unknown
R0784:Akp3 UTSW 1 87,055,593 (GRCm39) missense unknown
R1080:Akp3 UTSW 1 87,054,723 (GRCm39) missense probably damaging 0.99
R1120:Akp3 UTSW 1 87,053,159 (GRCm39) missense probably damaging 0.98
R1128:Akp3 UTSW 1 87,055,593 (GRCm39) missense unknown
R1130:Akp3 UTSW 1 87,055,593 (GRCm39) missense unknown
R1175:Akp3 UTSW 1 87,055,593 (GRCm39) missense unknown
R1200:Akp3 UTSW 1 87,052,982 (GRCm39) missense probably damaging 1.00
R1618:Akp3 UTSW 1 87,055,593 (GRCm39) missense unknown
R1864:Akp3 UTSW 1 87,055,489 (GRCm39) small deletion probably benign
R2111:Akp3 UTSW 1 87,054,607 (GRCm39) splice site probably null
R4657:Akp3 UTSW 1 87,053,556 (GRCm39) intron probably benign
R5278:Akp3 UTSW 1 87,052,888 (GRCm39) missense probably benign 0.01
R5563:Akp3 UTSW 1 87,053,646 (GRCm39) missense probably damaging 1.00
R5643:Akp3 UTSW 1 87,055,485 (GRCm39) missense unknown
R5768:Akp3 UTSW 1 87,054,844 (GRCm39) missense probably damaging 0.99
R5809:Akp3 UTSW 1 87,054,270 (GRCm39) missense probably benign 0.06
R5956:Akp3 UTSW 1 87,054,667 (GRCm39) missense probably damaging 1.00
R5999:Akp3 UTSW 1 87,055,263 (GRCm39) missense probably damaging 1.00
R6945:Akp3 UTSW 1 87,053,353 (GRCm39) missense probably damaging 1.00
R7028:Akp3 UTSW 1 87,054,500 (GRCm39) missense probably benign
R7154:Akp3 UTSW 1 87,052,946 (GRCm39) missense probably damaging 0.99
R7162:Akp3 UTSW 1 87,055,471 (GRCm39) missense unknown
R7486:Akp3 UTSW 1 87,053,201 (GRCm39) missense probably damaging 1.00
R7825:Akp3 UTSW 1 87,055,489 (GRCm39) small deletion probably benign
R8267:Akp3 UTSW 1 87,055,461 (GRCm39) missense unknown
R8708:Akp3 UTSW 1 87,054,091 (GRCm39) nonsense probably null
R9026:Akp3 UTSW 1 87,054,786 (GRCm39) missense possibly damaging 0.89
R9433:Akp3 UTSW 1 87,053,517 (GRCm39) missense probably benign 0.01
X0018:Akp3 UTSW 1 87,054,060 (GRCm39) missense probably damaging 1.00
X0060:Akp3 UTSW 1 87,053,616 (GRCm39) missense probably damaging 1.00
X0066:Akp3 UTSW 1 87,054,518 (GRCm39) missense probably damaging 0.98
Z1177:Akp3 UTSW 1 87,054,167 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16