Incidental Mutation 'R7694:Alpl'
ID 593534
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 045757-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7694 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 137469044-137523695 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 137471120 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 339 (G339R)
Ref Sequence ENSEMBL: ENSMUSP00000030551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030551]
AlphaFold P09242
Predicted Effect probably damaging
Transcript: ENSMUST00000030551
AA Change: G339R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030551
Gene: ENSMUSG00000028766
AA Change: G339R

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
alkPPc 52 491 4.69e-285 SMART
low complexity region 500 520 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn T G 17: 14,109,144 (GRCm39) S1571A probably damaging Het
Agbl1 C A 7: 76,348,513 (GRCm39) A870D unknown Het
Ankrd55 T C 13: 112,504,498 (GRCm39) Y415H probably damaging Het
Cd69 G A 6: 129,247,008 (GRCm39) R111C possibly damaging Het
Cdh26 A T 2: 178,101,896 (GRCm39) T172S probably damaging Het
Cflar T A 1: 58,791,966 (GRCm39) V423E Het
Cgrrf1 A C 14: 47,091,415 (GRCm39) Q313P possibly damaging Het
Chga G A 12: 102,527,606 (GRCm39) A87T probably benign Het
Chrna4 T A 2: 180,660,386 (GRCm39) D102V Het
Cpvl A T 6: 53,909,502 (GRCm39) Y211* probably null Het
Cyp26a1 G A 19: 37,689,512 (GRCm39) D403N possibly damaging Het
Dchs2 T C 3: 83,036,789 (GRCm39) L512P probably damaging Het
Dll3 A C 7: 28,001,170 (GRCm39) M1R probably null Het
Dnah12 A G 14: 26,503,337 (GRCm39) T1564A probably damaging Het
Efhb A G 17: 53,707,836 (GRCm39) S776P probably damaging Het
Eml5 T C 12: 98,758,822 (GRCm39) S1831G probably damaging Het
Fat1 G T 8: 45,441,967 (GRCm39) probably null Het
Fhad1 T C 4: 141,632,375 (GRCm39) K1255E probably benign Het
Fitm2 C T 2: 163,311,892 (GRCm39) C107Y probably damaging Het
Gdpd4 T C 7: 97,621,146 (GRCm39) V153A probably benign Het
Ggnbp2 A G 11: 84,751,539 (GRCm39) V87A possibly damaging Het
Glb1l G T 1: 75,178,436 (GRCm39) A334E probably damaging Het
Gnas T G 2: 174,142,005 (GRCm39) L784R probably damaging Het
Gtf2i C T 5: 134,311,659 (GRCm39) E223K probably damaging Het
H2-M10.5 T C 17: 37,084,641 (GRCm39) Y122H probably damaging Het
Hikeshi G A 7: 89,579,554 (GRCm39) Q6* probably null Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Irak2 A C 6: 113,667,859 (GRCm39) D528A probably damaging Het
Lcn2 A G 2: 32,278,042 (GRCm39) C17R unknown Het
Lcp2 G T 11: 34,000,924 (GRCm39) V36L probably benign Het
Lin7c T C 2: 109,726,617 (GRCm39) S89P probably benign Het
Lrrc37a C T 11: 103,395,204 (GRCm39) A74T probably benign Het
Lrrtm3 T A 10: 63,923,818 (GRCm39) M450L probably benign Het
Lsm11 C T 11: 45,824,768 (GRCm39) R253Q probably benign Het
Map9 A T 3: 82,266,290 (GRCm39) probably benign Het
Mmp2 T A 8: 93,558,358 (GRCm39) D142E possibly damaging Het
Nrn1l A T 8: 106,621,430 (GRCm39) T127S probably damaging Het
Or14c46 T C 7: 85,918,983 (GRCm39) T5A probably damaging Het
Pelp1 G A 11: 70,285,585 (GRCm39) T761I probably damaging Het
Pmm2 T A 16: 8,463,254 (GRCm39) V63E probably damaging Het
Ptprb T A 10: 116,208,853 (GRCm39) L1942H probably damaging Het
Ptprk T A 10: 28,465,366 (GRCm39) C1350S possibly damaging Het
Rnf44 A G 13: 54,829,841 (GRCm39) V381A probably damaging Het
Robo3 G A 9: 37,329,816 (GRCm39) P1167S probably benign Het
Ryk A G 9: 102,775,979 (GRCm39) E489G probably damaging Het
Satb2 T A 1: 56,910,683 (GRCm39) I321L probably benign Het
Sh2b1 A T 7: 126,066,929 (GRCm39) V655E probably benign Het
Slc16a12 G A 19: 34,648,035 (GRCm39) T486M probably damaging Het
Slc34a1 G T 13: 55,561,221 (GRCm39) R562L probably benign Het
Slc4a9 A G 18: 36,669,902 (GRCm39) E779G probably damaging Het
Strc C A 2: 121,207,577 (GRCm39) C598F probably damaging Het
Stxbp6 A T 12: 44,948,810 (GRCm39) F100I probably damaging Het
Tap2 A G 17: 34,424,671 (GRCm39) T135A probably benign Het
Tmcc1 G A 6: 116,110,805 (GRCm39) P159S Het
Tmem106b T A 6: 13,078,105 (GRCm39) M100K probably benign Het
Ttn T A 2: 76,578,039 (GRCm39) T24285S probably damaging Het
Vmn1r116 G A 7: 20,606,337 (GRCm39) V53M possibly damaging Het
Zar1 A T 5: 72,738,193 (GRCm39) S70T probably benign Het
Zfp235 C T 7: 23,841,525 (GRCm39) T648M probably benign Het
Zfp937 C T 2: 150,081,268 (GRCm39) H433Y 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
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
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 PCR Primer
(F):5'- ACAGGCTGCTTCGCTGTATC -3'
(R):5'- ACTTGGCCATGAGATGCCTG -3'

Sequencing Primer
(F):5'- TGTATCCCAGGGACAGGCTACTC -3'
(R):5'- CCATGAGATGCCTGAGGTAGACC -3'
Posted On 2019-11-12