Incidental Mutation 'R2372:Alpi'
ID 248149
Institutional Source Beutler Lab
Gene Symbol Alpi
Ensembl Gene ENSMUSG00000079440
Gene Name alkaline phosphatase, intestinal
Synonyms 2010001C14Rik
MMRRC Submission 040352-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R2372 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 87025724-87029328 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 87028316 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 169 (T169N)
Ref Sequence ENSEMBL: ENSMUSP00000108895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113270]
AlphaFold F8VPQ6
Predicted Effect probably damaging
Transcript: ENSMUST00000113270
AA Change: T169N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108895
Gene: ENSMUSG00000079440
AA Change: T169N

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 34 46 N/A INTRINSIC
alkPPc 54 489 7.97e-247 SMART
low complexity region 509 532 N/A INTRINSIC
low complexity region 533 547 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186823
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 97% (36/37)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an alkaline phosphatase, a metalloenzyme that catalyzes the hydrolysis of phosphoric acid monoesters. It belongs to a multigene family composed of four alkaline phosphatase isoenzymes. The enzyme functions as a homodimer and has a catalytic site containing one magnesium and two zinc ions, which are required for its enzymatic function. The protein is primarily expressed in placental and endometrial tissue; however, strong ectopic expression has been detected in ovarian adenocarcinoma, serous cystadenocarcinoma, and other ovarian cancer cells. [provided by RefSeq, Jan 2015]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik A G 7: 44,009,704 (GRCm39) L135S probably damaging Het
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Ccdc15 T C 9: 37,226,801 (GRCm39) D378G possibly damaging Het
Cpb2 T G 14: 75,505,490 (GRCm39) V162G probably damaging Het
Dnmbp T C 19: 43,890,759 (GRCm39) E336G probably benign Het
Dok6 G C 18: 89,432,988 (GRCm39) R274G probably null Het
Eef1d G A 15: 75,768,166 (GRCm39) R199C probably damaging Het
Epha8 T C 4: 136,660,321 (GRCm39) Y714C probably damaging Het
Fyb1 T C 15: 6,681,388 (GRCm39) probably benign Het
Gfpt2 A G 11: 49,698,542 (GRCm39) N46D probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably benign Het
Gm11596 C A 11: 99,684,082 (GRCm39) E13* probably null Het
Gsx2 T C 5: 75,237,713 (GRCm39) F222L probably damaging Het
Hpca T A 4: 129,012,237 (GRCm39) K100* probably null Het
Iqsec1 A G 6: 90,671,636 (GRCm39) S89P probably damaging Het
Kif12 T A 4: 63,086,796 (GRCm39) T347S possibly damaging Het
Knop1 A G 7: 118,452,440 (GRCm39) L93S probably damaging Het
Mib1 A G 18: 10,812,045 (GRCm39) T981A probably damaging Het
N4bp2l1 C T 5: 150,496,246 (GRCm39) E123K probably damaging Het
Npr2 C T 4: 43,650,432 (GRCm39) R976W probably damaging Het
Rbpj T C 5: 53,799,537 (GRCm39) probably benign Het
Ro60 C A 1: 143,646,620 (GRCm39) E42* probably null Het
Ruvbl1 T C 6: 88,462,779 (GRCm39) V301A possibly damaging Het
Sgip1 T C 4: 102,766,988 (GRCm39) probably null Het
Sh3bp2 T C 5: 34,716,840 (GRCm39) I361T probably benign Het
Skint1 T A 4: 111,876,348 (GRCm39) Y90N probably damaging Het
Slc25a45 G A 19: 5,934,580 (GRCm39) V183I probably benign Het
Slco4c1 T A 1: 96,748,925 (GRCm39) H664L probably benign Het
Sult2a4 T A 7: 13,649,225 (GRCm39) I194L probably benign Het
Tecta C A 9: 42,299,570 (GRCm39) D173Y probably damaging Het
Tnrc18 T A 5: 142,745,459 (GRCm39) probably benign Het
Use1 T C 8: 71,821,823 (GRCm39) L169P possibly damaging Het
Zfp335 A G 2: 164,736,959 (GRCm39) L918P probably damaging Het
Zfp451 A T 1: 33,819,133 (GRCm39) probably null Het
Other mutations in Alpi
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Alpi APN 1 87,027,442 (GRCm39) missense probably damaging 1.00
IGL01972:Alpi APN 1 87,027,431 (GRCm39) missense probably damaging 1.00
IGL02672:Alpi APN 1 87,028,994 (GRCm39) missense probably damaging 1.00
IGL03089:Alpi APN 1 87,027,830 (GRCm39) missense probably benign 0.05
IGL03099:Alpi APN 1 87,026,353 (GRCm39) missense unknown
IGL03154:Alpi APN 1 87,027,810 (GRCm39) missense probably damaging 1.00
IGL03372:Alpi APN 1 87,028,350 (GRCm39) splice site probably benign
K7371:Alpi UTSW 1 87,026,893 (GRCm39) splice site probably benign
R0053:Alpi UTSW 1 87,026,512 (GRCm39) missense probably benign 0.03
R0054:Alpi UTSW 1 87,027,487 (GRCm39) missense possibly damaging 0.61
R0070:Alpi UTSW 1 87,028,881 (GRCm39) splice site probably benign
R1586:Alpi UTSW 1 87,027,923 (GRCm39) missense probably damaging 1.00
R1835:Alpi UTSW 1 87,027,136 (GRCm39) missense possibly damaging 0.88
R4546:Alpi UTSW 1 87,026,839 (GRCm39) missense probably damaging 1.00
R4861:Alpi UTSW 1 87,028,191 (GRCm39) missense probably damaging 0.98
R4861:Alpi UTSW 1 87,028,191 (GRCm39) missense probably damaging 0.98
R4968:Alpi UTSW 1 87,029,247 (GRCm39) missense probably benign 0.05
R5427:Alpi UTSW 1 87,029,076 (GRCm39) missense probably benign 0.04
R6245:Alpi UTSW 1 87,028,556 (GRCm39) missense probably damaging 1.00
R6394:Alpi UTSW 1 87,028,428 (GRCm39) missense possibly damaging 0.71
R6398:Alpi UTSW 1 87,027,184 (GRCm39) missense probably damaging 0.98
R6616:Alpi UTSW 1 87,028,836 (GRCm39) missense possibly damaging 0.81
R7168:Alpi UTSW 1 87,027,155 (GRCm39) missense possibly damaging 0.94
R7448:Alpi UTSW 1 87,029,257 (GRCm39) start codon destroyed possibly damaging 0.79
R7473:Alpi UTSW 1 87,027,369 (GRCm39) critical splice donor site probably null
R7527:Alpi UTSW 1 87,026,677 (GRCm39) missense probably benign 0.01
R7552:Alpi UTSW 1 87,026,795 (GRCm39) missense probably benign 0.00
R8008:Alpi UTSW 1 87,026,384 (GRCm39) missense unknown
R8693:Alpi UTSW 1 87,026,405 (GRCm39) missense unknown
R8698:Alpi UTSW 1 87,028,208 (GRCm39) missense probably damaging 1.00
R9071:Alpi UTSW 1 87,026,584 (GRCm39) missense probably damaging 0.97
R9342:Alpi UTSW 1 87,026,386 (GRCm39) missense unknown
R9528:Alpi UTSW 1 87,026,772 (GRCm39) critical splice donor site probably null
R9733:Alpi UTSW 1 87,028,516 (GRCm39) missense probably benign 0.09
X0052:Alpi UTSW 1 87,027,923 (GRCm39) missense probably damaging 1.00
X0057:Alpi UTSW 1 87,028,800 (GRCm39) missense probably damaging 1.00
Z1176:Alpi UTSW 1 87,026,794 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- CAGGCTGTTTATGCCTGGAAC -3'
(R):5'- AGTGCAGCTGCTCGATTAG -3'

Sequencing Primer
(F):5'- TATGCCTGGAACTATGGCCAGTC -3'
(R):5'- AGCTGCTCGATTAGACCAGTG -3'
Posted On 2014-11-11