Incidental Mutation 'IGL02164:Alpl'
ID 282606
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alpl
Ensembl Gene ENSMUSG00000028766
Gene Name alkaline phosphatase, liver/bone/kidney
Synonyms TNAP, Akp-2, ALP, TNSALP, Akp2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02164
Quality Score
Status
Chromosome 4
Chromosomal Location 137469044-137523695 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 137481290 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 121 (V121M)
Ref Sequence ENSEMBL: ENSMUSP00000116308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030551] [ENSMUST00000133473] [ENSMUST00000139951] [ENSMUST00000153588]
AlphaFold P09242
Predicted Effect probably damaging
Transcript: ENSMUST00000030551
AA Change: V121M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030551
Gene: ENSMUSG00000028766
AA Change: V121M

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
alkPPc 52 491 4.69e-285 SMART
low complexity region 500 520 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133473
SMART Domains Protein: ENSMUSP00000121548
Gene: ENSMUSG00000028766

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Alk_phosphatase 51 98 5.3e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133566
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138463
Predicted Effect probably damaging
Transcript: ENSMUST00000139951
AA Change: V121M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125041
Gene: ENSMUSG00000028766
AA Change: V121M

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Alk_phosphatase 51 216 5.2e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143757
Predicted Effect probably damaging
Transcript: ENSMUST00000153588
AA Change: V121M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116308
Gene: ENSMUSG00000028766
AA Change: V121M

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Alk_phosphatase 51 158 2e-44 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a preproprotein that is proteolytically cleaved to yield a signal peptide and a proproptein that is subsequently processed to generate the active mature peptide. The encoded protein is a membrane-bound glycosylated enzyme that catalyzes the hydrolysis of phosphate esters at alkaline pH. The mature peptide maintains the ratio of inorganic phosphate to inorganic pyrophosphate required for bone mineralization. Mice that lack this enzyme show symptoms of osteomalacia, softening of the bones. In humans, mutations in this gene are associated with hypophosphatasia, an inherited metabolic bone disease in which deficiency of this enzyme inhibits bone mineralization leading to skeletal defects. Mutations in the mouse gene mirror the symptoms of human hypophosphatasia. A pseudogene of this gene is present on chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Males hemizygous for a null mutation exhibit reduced body size, shortened hindlimbs and tail, osteomalacia, and markedly reduced plasma phosphate levels due to impaired kidney reabsorption. Female heterozygotes exhibit milder symptoms. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730480H06Rik T A 5: 48,537,524 (GRCm39) V187E probably benign Het
Abcc12 T A 8: 87,254,033 (GRCm39) D917V probably damaging Het
Abhd15 A T 11: 77,406,840 (GRCm39) E272D probably benign Het
Adat3 T A 10: 80,442,461 (GRCm39) S100T probably benign Het
Adgrg6 T C 10: 14,399,299 (GRCm39) probably benign Het
Ano1 A T 7: 144,190,918 (GRCm39) Y388N possibly damaging Het
Arrdc4 C T 7: 68,389,285 (GRCm39) probably benign Het
Asxl2 A G 12: 3,552,079 (GRCm39) M1274V probably benign Het
Bmt2 G T 6: 13,628,878 (GRCm39) N268K possibly damaging Het
Bpifb2 C A 2: 153,725,482 (GRCm39) L176M probably damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cd14 T C 18: 36,858,838 (GRCm39) R206G possibly damaging Het
Cfap65 G T 1: 74,967,304 (GRCm39) T215K possibly damaging Het
Chd9 T C 8: 91,659,849 (GRCm39) S270P possibly damaging Het
Cidea C T 18: 67,499,581 (GRCm39) S156L probably damaging Het
Col5a3 A G 9: 20,703,939 (GRCm39) probably null Het
Cspg5 T C 9: 110,080,104 (GRCm39) V424A probably damaging Het
Ctc1 A G 11: 68,916,922 (GRCm39) H272R probably damaging Het
D5Ertd579e A T 5: 36,772,303 (GRCm39) S697R probably damaging Het
Dennd3 T C 15: 73,416,297 (GRCm39) S516P probably benign Het
Dipk2b T A X: 18,285,192 (GRCm39) R421* probably null Het
Dlgap4 G A 2: 156,553,059 (GRCm39) R509H probably damaging Het
Dus3l T C 17: 57,074,943 (GRCm39) probably benign Het
Dync1h1 G T 12: 110,628,993 (GRCm39) W4183C probably damaging Het
Eif2s3x A T X: 93,248,678 (GRCm39) M152K possibly damaging Het
Epb41l1 C T 2: 156,336,869 (GRCm39) probably benign Het
Ephx2 A G 14: 66,341,169 (GRCm39) probably benign Het
Fabp12 T A 3: 10,311,075 (GRCm39) Y129F probably damaging Het
Fat3 A G 9: 15,942,720 (GRCm39) probably benign Het
Fat4 T C 3: 39,050,354 (GRCm39) probably null Het
Gnb1 T A 4: 155,641,631 (GRCm39) probably null Het
Gpr107 C A 2: 31,068,298 (GRCm39) Y253* probably null Het
Grb10 C T 11: 11,893,962 (GRCm39) E320K probably damaging Het
Gucy2g G T 19: 55,226,455 (GRCm39) H154N probably benign Het
H2bl1 T C 13: 99,120,715 (GRCm39) K104E probably damaging Het
Hemk1 T A 9: 107,208,735 (GRCm39) H154L probably benign Het
Hk2 A T 6: 82,720,920 (GRCm39) probably null Het
Htr5a A G 5: 28,047,463 (GRCm39) N6S probably damaging Het
Htra3 T C 5: 35,810,410 (GRCm39) D424G probably benign Het
Ift52 A G 2: 162,867,384 (GRCm39) probably null Het
Igdcc4 A G 9: 65,032,064 (GRCm39) probably benign Het
Itpr1 A G 6: 108,366,444 (GRCm39) K124E probably benign Het
Kcnc2 T A 10: 112,291,590 (GRCm39) N259K possibly damaging Het
Kics2 A G 10: 121,586,675 (GRCm39) Y194C probably damaging Het
Lmod2 A T 6: 24,603,909 (GRCm39) I295F possibly damaging Het
Lrp1 T C 10: 127,399,536 (GRCm39) E2324G probably benign Het
Lss T C 10: 76,372,094 (GRCm39) S150P probably damaging Het
Macf1 T C 4: 123,374,065 (GRCm39) N1515S probably benign Het
Mapk11 T C 15: 89,029,651 (GRCm39) probably null Het
Mc3r T A 2: 172,091,314 (GRCm39) F179I probably damaging Het
Mtmr9 T A 14: 63,767,737 (GRCm39) N291Y probably damaging Het
Myo1h T C 5: 114,472,157 (GRCm39) F396L probably damaging Het
Nek2 A G 1: 191,559,416 (GRCm39) K307R probably benign Het
Or12d2 C A 17: 37,624,578 (GRCm39) M232I probably benign Het
Osmr G A 15: 6,871,529 (GRCm39) T296I probably damaging Het
Pcdhb11 T G 18: 37,556,412 (GRCm39) S581A probably benign Het
Pfkp C T 13: 6,647,951 (GRCm39) V542M probably damaging Het
Pmpca C T 2: 26,285,581 (GRCm39) S519L probably benign Het
Ptgds A T 2: 25,359,124 (GRCm39) Y44N probably damaging Het
Raly T A 2: 154,701,849 (GRCm39) Y116* probably null Het
Rock2 A G 12: 17,015,530 (GRCm39) D809G probably damaging Het
Sgsm2 T G 11: 74,756,242 (GRCm39) N369T possibly damaging Het
Slc6a15 A G 10: 103,254,083 (GRCm39) D673G probably benign Het
Spire2 A T 8: 124,059,703 (GRCm39) D67V probably damaging Het
St7l T C 3: 104,829,597 (GRCm39) probably null Het
Stau2 A G 1: 16,416,052 (GRCm39) L469P probably damaging Het
Tefm A G 11: 80,030,915 (GRCm39) L107S probably damaging Het
Ticam1 A T 17: 56,577,019 (GRCm39) V692D unknown Het
Tipin T A 9: 64,201,631 (GRCm39) D143E probably damaging Het
Tmem132c C A 5: 127,613,441 (GRCm39) T448K probably damaging Het
Trav8-1 A T 14: 53,707,213 (GRCm39) M1L unknown Het
Ttn C A 2: 76,569,141 (GRCm39) V27251F probably damaging Het
Uvrag A T 7: 98,653,896 (GRCm39) C31* probably null Het
Zap70 T C 1: 36,810,267 (GRCm39) Y126H probably damaging Het
Zfp644 A G 5: 106,785,965 (GRCm39) V194A probably benign Het
Zfp663 C T 2: 165,200,968 (GRCm39) W22* probably null Het
Other mutations in Alpl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01099:Alpl APN 4 137,470,624 (GRCm39) splice site probably benign
IGL02379:Alpl APN 4 137,469,869 (GRCm39) missense probably damaging 1.00
IGL02632:Alpl APN 4 137,481,217 (GRCm39) missense probably damaging 0.98
IGL02926:Alpl APN 4 137,469,945 (GRCm39) missense probably damaging 1.00
R0492:Alpl UTSW 4 137,476,887 (GRCm39) splice site probably null
R1157:Alpl UTSW 4 137,481,331 (GRCm39) missense probably damaging 1.00
R2013:Alpl UTSW 4 137,482,458 (GRCm39) missense probably benign 0.00
R2067:Alpl UTSW 4 137,476,856 (GRCm39) unclassified probably benign
R4412:Alpl UTSW 4 137,485,939 (GRCm39) missense possibly damaging 0.84
R4440:Alpl UTSW 4 137,475,124 (GRCm39) missense probably damaging 1.00
R5275:Alpl UTSW 4 137,476,919 (GRCm39) missense probably benign 0.00
R5295:Alpl UTSW 4 137,476,919 (GRCm39) missense probably benign 0.00
R5529:Alpl UTSW 4 137,473,733 (GRCm39) missense probably damaging 0.99
R6706:Alpl UTSW 4 137,473,740 (GRCm39) missense probably benign 0.00
R7291:Alpl UTSW 4 137,480,009 (GRCm39) missense probably damaging 1.00
R7693:Alpl UTSW 4 137,471,120 (GRCm39) missense probably damaging 1.00
R7694:Alpl UTSW 4 137,471,120 (GRCm39) missense probably damaging 1.00
R8247:Alpl UTSW 4 137,473,764 (GRCm39) missense probably damaging 1.00
R8686:Alpl UTSW 4 137,471,112 (GRCm39) missense probably damaging 1.00
R8725:Alpl UTSW 4 137,475,127 (GRCm39) missense probably benign
R8727:Alpl UTSW 4 137,475,127 (GRCm39) missense probably benign
X0017:Alpl UTSW 4 137,473,778 (GRCm39) missense probably damaging 1.00
Z1176:Alpl UTSW 4 137,481,321 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16