Incidental Mutation 'R1157:Alpl'
ID 101787
Institutional Source Beutler Lab
Gene Symbol Alpl
Ensembl Gene ENSMUSG00000028766
Gene Name alkaline phosphatase, liver/bone/kidney
Synonyms TNAP, Akp-2, ALP, TNSALP, Akp2
MMRRC Submission 039230-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1157 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 137469044-137523695 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 137481331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 107 (V107A)
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: V107A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030551
Gene: ENSMUSG00000028766
AA Change: V107A

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: V107A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125041
Gene: ENSMUSG00000028766
AA Change: V107A

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: V107A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116308
Gene: ENSMUSG00000028766
AA Change: V107A

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Alk_phosphatase 51 158 2e-44 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 C A 3: 95,590,971 (GRCm39) S332I possibly damaging Het
Baz1a A T 12: 54,976,349 (GRCm39) F442L probably damaging Het
Cachd1 T A 4: 100,832,037 (GRCm39) M733K possibly damaging Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Cenpf A T 1: 189,390,650 (GRCm39) C1061S probably benign Het
Crispld1 G A 1: 17,815,587 (GRCm39) V90M possibly damaging Het
Ergic1 T A 17: 26,833,369 (GRCm39) L41Q probably damaging Het
Fhod3 C T 18: 25,118,293 (GRCm39) A210V probably damaging Het
Gas2l2 G A 11: 83,314,154 (GRCm39) P386L probably benign Het
Gm21726 T C 13: 90,731,724 (GRCm39) noncoding transcript Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Hoxa13 CCG CCGCG 6: 52,237,618 (GRCm39) probably null Het
Iqsec1 A G 6: 90,646,366 (GRCm39) V771A possibly damaging Het
Klhl29 T C 12: 5,140,650 (GRCm39) N664S possibly damaging Het
Krit1 T C 5: 3,882,176 (GRCm39) Y659H probably damaging Het
Lap3 T A 5: 45,664,490 (GRCm39) D373E probably damaging Het
Lrrc7 A G 3: 157,865,892 (GRCm39) I1283T probably damaging Het
Lrrk1 T C 7: 65,912,031 (GRCm39) Y1843C probably benign Het
Mapre1 T A 2: 153,599,937 (GRCm39) D120E probably benign Het
Mgp A T 6: 136,850,204 (GRCm39) M44K possibly damaging Het
Mrps25 A T 6: 92,160,947 (GRCm39) M3K probably damaging Het
Myo3a G T 2: 22,434,456 (GRCm39) probably null Het
Nedd9 C T 13: 41,467,979 (GRCm39) probably null Het
Or52e4 A G 7: 104,706,091 (GRCm39) I213V probably benign Het
Or6c8b T G 10: 128,882,027 (GRCm39) T302P probably benign Het
Or7c19 G T 8: 85,957,889 (GRCm39) C255F probably damaging Het
Pate12 G A 9: 36,344,143 (GRCm39) C42Y probably benign Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Pigs T C 11: 78,219,820 (GRCm39) V65A possibly damaging Het
Pip5k1a G A 3: 94,985,423 (GRCm39) T60I probably benign Het
Rp9 A T 9: 22,370,036 (GRCm39) Y44N probably damaging Het
Tcea1 T A 1: 4,959,670 (GRCm39) probably null Het
Trim33 C T 3: 103,261,146 (GRCm39) T1098I probably damaging Het
Vmn2r114 T A 17: 23,529,314 (GRCm39) I263F possibly damaging Het
Wdr12 A T 1: 60,117,389 (GRCm39) S402R probably damaging Het
Zfp619 A G 7: 39,186,282 (GRCm39) S771G probably damaging Het
Other mutations in Alpl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01099:Alpl APN 4 137,470,624 (GRCm39) splice site probably benign
IGL02164:Alpl APN 4 137,481,290 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers
Posted On 2014-01-15