Incidental Mutation 'R7162:Akp3'
ID 557620
Institutional Source Beutler Lab
Gene Symbol Akp3
Ensembl Gene ENSMUSG00000036500
Gene Name alkaline phosphatase 3, intestine, not Mn requiring
Synonyms IAP, Akp-3
MMRRC Submission 045261-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.217) question?
Stock # R7162 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 87052695-87055634 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 87055471 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 506 (T506I)
Ref Sequence ENSEMBL: ENSMUSP00000037497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044878]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000044878
AA Change: T506I
SMART Domains Protein: ENSMUSP00000037497
Gene: ENSMUSG00000036500
AA Change: T506I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (85/86)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank1 T C 8: 23,622,370 (GRCm39) W1640R possibly damaging Het
Atp2a2 A G 5: 122,627,387 (GRCm39) M126T probably benign Het
Bptf A T 11: 106,934,457 (GRCm39) probably null Het
Brat1 T C 5: 140,696,004 (GRCm39) V125A probably benign Het
Cables1 T C 18: 12,059,423 (GRCm39) probably null Het
Cabp5 A T 7: 13,135,260 (GRCm39) M67L probably damaging Het
Cacna1b A C 2: 24,590,034 (GRCm39) I558S probably benign Het
Ccdc166 A G 15: 75,853,044 (GRCm39) S308P probably benign Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Cfhr2 A G 1: 139,741,264 (GRCm39) V237A probably benign Het
Clybl C A 14: 122,608,732 (GRCm39) S108* probably null Het
Cubn A G 2: 13,347,309 (GRCm39) Y2070H probably damaging Het
Cyp8b1 A G 9: 121,744,777 (GRCm39) F185S probably damaging Het
Dennd2c T A 3: 103,063,423 (GRCm39) V620D probably damaging Het
Dis3l2 T C 1: 86,971,752 (GRCm39) F597L possibly damaging Het
Eif3f G A 7: 108,539,938 (GRCm39) R282H probably benign Het
Ell C A 8: 71,031,559 (GRCm39) R86S possibly damaging Het
Eppk1 A G 15: 75,990,809 (GRCm39) V2024A possibly damaging Het
Exoc6 T C 19: 37,565,566 (GRCm39) I214T probably damaging Het
Faim2 A G 15: 99,419,048 (GRCm39) probably null Het
Gli1 A G 10: 127,168,306 (GRCm39) S516P probably benign Het
Gm18596 A T 10: 77,578,034 (GRCm39) S147T unknown Het
Gm19965 A G 1: 116,750,095 (GRCm39) Y592C unknown Het
Gng12 T C 6: 66,994,285 (GRCm39) S36P unknown Het
Gramd2b G A 18: 56,618,529 (GRCm39) probably null Het
Hmcn1 T A 1: 150,624,744 (GRCm39) T1054S probably benign Het
Ifngr1 A G 10: 19,485,101 (GRCm39) T367A probably benign Het
Il21r G T 7: 125,231,483 (GRCm39) V304L probably benign Het
Ino80d G A 1: 63,104,894 (GRCm39) T394M probably damaging Het
Itfg2 C T 6: 128,387,546 (GRCm39) V380M probably damaging Het
Kcna5 C T 6: 126,510,806 (GRCm39) V441I possibly damaging Het
Kcp T A 6: 29,497,199 (GRCm39) probably null Het
Kdf1 C T 4: 133,257,229 (GRCm39) T375I unknown Het
Klk1b1 A T 7: 43,618,671 (GRCm39) D16V probably damaging Het
Krtap5-4 A C 7: 141,857,335 (GRCm39) T2P unknown Het
Lamtor1 A G 7: 101,555,243 (GRCm39) D13G probably benign Het
Lrp10 T C 14: 54,703,163 (GRCm39) V72A possibly damaging Het
Lrrc1 C A 9: 77,339,472 (GRCm39) A503S probably benign Het
Mylk A T 16: 34,742,899 (GRCm39) D1137V probably damaging Het
Myo5b C G 18: 74,828,498 (GRCm39) L717V probably benign Het
Myoz3 T A 18: 60,709,485 (GRCm39) R225S probably damaging Het
Myrf A G 19: 10,196,010 (GRCm39) F335L possibly damaging Het
Nfib A C 4: 82,268,677 (GRCm39) S292A probably damaging Het
Notch3 G T 17: 32,365,423 (GRCm39) H1096Q probably damaging Het
Nt5c1a A G 4: 123,107,898 (GRCm39) R194G probably benign Het
Or10d3 A G 9: 39,461,525 (GRCm39) I214T probably damaging Het
Or5a1 A G 19: 12,097,501 (GRCm39) F192L possibly damaging Het
Parp4 A G 14: 56,886,333 (GRCm39) E1804G unknown Het
Pcdhac2 A T 18: 37,278,840 (GRCm39) I607L probably benign Het
Pcdhb5 A G 18: 37,454,739 (GRCm39) D373G probably benign Het
Pcf11 A T 7: 92,313,221 (GRCm39) V154E probably damaging Het
Pdia3 T G 2: 121,260,002 (GRCm39) D180E probably benign Het
Piezo2 C A 18: 63,257,780 (GRCm39) V313F possibly damaging Het
Pik3ap1 C A 19: 41,309,965 (GRCm39) A452S probably benign Het
Plb1 A G 5: 32,507,007 (GRCm39) K1194R probably benign Het
Pld3 A C 7: 27,231,899 (GRCm39) W431G probably damaging Het
Plekha3 T C 2: 76,523,110 (GRCm39) probably null Het
Ppm1f G T 16: 16,732,057 (GRCm39) R169L probably damaging Het
Ppp2r3d A G 9: 124,439,673 (GRCm38) V60A Het
Prop1 T A 11: 50,842,881 (GRCm39) D102V probably damaging Het
Rbm27 G A 18: 42,447,092 (GRCm39) G446R unknown Het
Rc3h2 C A 2: 37,299,617 (GRCm39) V138L possibly damaging Het
Rorc G A 3: 94,284,915 (GRCm39) probably null Het
Sardh A G 2: 27,087,702 (GRCm39) V723A possibly damaging Het
Sart3 A G 5: 113,900,896 (GRCm39) Y181H probably damaging Het
Sbpl A T 17: 24,172,439 (GRCm39) M160K possibly damaging Het
Sh3gl3 A G 7: 81,933,350 (GRCm39) S238G probably benign Het
Slc22a30 A G 19: 8,314,081 (GRCm39) probably null Het
Slc3a1 A T 17: 85,371,442 (GRCm39) R665* probably null Het
Stk32a C A 18: 43,430,649 (GRCm39) Y186* probably null Het
Stxbp6 T C 12: 44,949,663 (GRCm39) N89D probably benign Het
Svep1 A G 4: 58,070,262 (GRCm39) F2508S possibly damaging Het
Tas1r1 A G 4: 152,116,695 (GRCm39) V313A possibly damaging Het
Tmem81 T C 1: 132,435,355 (GRCm39) Y54H probably damaging Het
Tmtc1 T C 6: 148,172,985 (GRCm39) N582S probably damaging Het
Top2b T C 14: 16,416,653 (GRCm38) S1138P probably benign Het
Trim24 T A 6: 37,942,456 (GRCm39) N989K possibly damaging Het
Trim72 T A 7: 127,606,821 (GRCm39) M145K probably benign Het
Ttll9 T A 2: 152,831,523 (GRCm39) S154T probably damaging Het
Tusc3 T C 8: 39,593,741 (GRCm39) V286A probably benign Het
Vat1l C A 8: 114,963,518 (GRCm39) H185N probably damaging Het
Vmn1r209 A T 13: 22,990,128 (GRCm39) D187E probably damaging Het
Vmn2r87 T C 10: 130,313,416 (GRCm39) N450S probably benign Het
Wdr7 T A 18: 63,857,210 (GRCm39) D95E possibly damaging Het
Zfp937 C T 2: 150,081,439 (GRCm39) H490Y probably benign Het
Zfp974 A T 7: 27,610,944 (GRCm39) H260Q possibly damaging 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
IGL02677:Akp3 APN 1 87,052,994 (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
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
Predicted Primers PCR Primer
(F):5'- TAACATCTTGTCCCTCCAGGTGG -3'
(R):5'- CCTAGATGTGCTGGAGTTTAGGAC -3'

Sequencing Primer
(F):5'- TCCAGGTGGCTCATCGTAC -3'
(R):5'- CCCCTAGTAGTAGCATCAG -3'
Posted On 2019-06-26