Incidental Mutation 'R1976:Alppl2'
ID221663
Institutional Source Beutler Lab
Gene Symbol Alppl2
Ensembl Gene ENSMUSG00000026246
Gene Namealkaline phosphatase, placental-like 2
SynonymsAkp5, D1Ertd816e
MMRRC Submission 039989-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.106) question?
Stock #R1976 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location87086694-87089928 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 87088741 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 204 (I204F)
Ref Sequence ENSEMBL: ENSMUSP00000139887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027455] [ENSMUST00000188310]
Predicted Effect probably damaging
Transcript: ENSMUST00000027455
AA Change: I204F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027455
Gene: ENSMUSG00000026246
AA Change: I204F

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
low complexity region 33 45 N/A INTRINSIC
alkPPc 52 487 2.24e-250 SMART
low complexity region 512 527 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186823
Predicted Effect probably damaging
Transcript: ENSMUST00000188310
AA Change: I204F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139887
Gene: ENSMUSG00000026246
AA Change: I204F

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
low complexity region 33 45 N/A INTRINSIC
alkPPc 52 487 2.24e-250 SMART
low complexity region 512 527 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190082
Meta Mutation Damage Score 0.6293 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 98% (65/66)
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 product of this gene is a membrane bound glycosylated enzyme, localized to testis, thymus and certain germ cell tumors, that is closely related to both the placental and intestinal forms of alkaline phosphatase. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit strain background-dependent differences in the timing of preimplantation cleavage and development, embryo survival, gestational length and litter size. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406P16Rik A C 7: 34,257,380 N353K probably damaging Het
Abca13 T C 11: 9,397,815 V3556A probably damaging Het
Abcb5 T C 12: 118,890,682 I833V probably benign Het
Adgrd1 A T 5: 129,140,797 H432L probably benign Het
Ascc3 T A 10: 50,649,166 F486I probably damaging Het
Bcl9l T A 9: 44,506,152 L429Q possibly damaging Het
Ccdc33 A T 9: 58,117,162 Y227* probably null Het
Cd101 A G 3: 101,008,061 V730A probably damaging Het
Cdadc1 A T 14: 59,573,768 V431E probably damaging Het
Dazap1 T A 10: 80,274,620 probably null Het
Dbpht2 T A 12: 74,295,861 noncoding transcript Het
Dennd4b A T 3: 90,273,055 T742S probably damaging Het
Dhtkd1 T C 2: 5,902,391 E838G possibly damaging Het
Dync2h1 A T 9: 7,129,045 D1823E probably benign Het
Enox1 T A 14: 77,668,793 N556K probably benign Het
Fam227a T C 15: 79,626,276 I392M possibly damaging Het
Fnip2 A T 3: 79,480,931 M831K probably benign Het
Foxn1 T C 11: 78,365,937 probably benign Het
Glis3 T C 19: 28,262,677 probably benign Het
Gm4953 T A 1: 159,168,353 noncoding transcript Het
Gsr T G 8: 33,680,260 probably null Het
Habp4 G T 13: 64,184,606 V344F probably benign Het
Hdac7 G A 15: 97,806,505 Q495* probably null Het
Helb T C 10: 120,094,263 D737G possibly damaging Het
Hltf A G 3: 20,106,446 D759G probably damaging Het
Hlx G T 1: 184,731,987 A52D probably damaging Het
Itga10 C T 3: 96,651,738 probably benign Het
Itsn2 A G 12: 4,672,733 probably benign Het
Kank2 A T 9: 21,794,561 V387E probably damaging Het
Lefty1 T C 1: 180,937,824 V319A probably benign Het
Lonp1 T C 17: 56,615,068 T771A possibly damaging Het
Lpcat2b A T 5: 107,433,850 K348N possibly damaging Het
Lsamp T C 16: 41,889,067 V103A probably damaging Het
Ltbp4 A T 7: 27,326,770 C538S probably damaging Het
Micu1 T C 10: 59,768,213 S174P probably damaging Het
Mta1 A G 12: 113,136,306 N607S probably damaging Het
Muc5b C T 7: 141,863,154 S3279L probably benign Het
Naalad2 T C 9: 18,378,699 E211G probably damaging Het
Nup155 T A 15: 8,135,827 M649K probably benign Het
Pan2 T C 10: 128,320,413 V1171A probably damaging Het
Pisd A G 5: 32,738,865 V372A probably damaging Het
Prim1 T A 10: 128,023,799 C288S probably benign Het
Rab23 T A 1: 33,723,938 C30S probably damaging Het
Sacs A G 14: 61,202,895 T797A probably benign Het
Sall3 T C 18: 80,971,893 D940G probably benign Het
Scn1a T C 2: 66,331,271 E311G probably benign Het
Sdk1 T A 5: 142,143,818 I1598N probably damaging Het
Slc22a17 A T 14: 54,908,500 probably null Het
Slc36a4 T A 9: 15,734,210 V311D probably damaging Het
Sprr3 T A 3: 92,456,946 Q197L possibly damaging Het
Stab2 A C 10: 86,896,496 probably null Het
Stk4 C T 2: 164,100,528 T360M probably benign Het
Tas2r123 T A 6: 132,847,332 V64D probably damaging Het
Trhde T G 10: 114,588,431 N483T possibly damaging Het
Trp53 C T 11: 69,588,497 T167M probably damaging Het
Tspan8 A G 10: 115,844,130 I217V probably benign Het
Usp17la A G 7: 104,860,320 E44G possibly damaging Het
Usp40 T G 1: 87,978,536 Q659P probably benign Het
Vmn1r4 T C 6: 56,956,738 C76R probably damaging Het
Vmn2r118 C T 17: 55,592,925 G660R probably damaging Het
Zcchc11 T C 4: 108,479,523 L148P probably benign Het
Zfp786 T A 6: 47,819,757 H749L probably damaging Het
Other mutations in Alppl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00984:Alppl2 APN 1 87088812 missense probably damaging 1.00
IGL02404:Alppl2 APN 1 87088863 missense possibly damaging 0.79
I2288:Alppl2 UTSW 1 87088176 missense possibly damaging 0.86
R0194:Alppl2 UTSW 1 87088743 missense probably damaging 1.00
R0305:Alppl2 UTSW 1 87089602 missense probably benign 0.28
R0631:Alppl2 UTSW 1 87089373 missense probably damaging 1.00
R0964:Alppl2 UTSW 1 87087724 missense possibly damaging 0.73
R2140:Alppl2 UTSW 1 87087697 missense probably benign 0.21
R3796:Alppl2 UTSW 1 87088354 critical splice donor site probably null
R4672:Alppl2 UTSW 1 87089465 intron probably benign
R5020:Alppl2 UTSW 1 87089709 missense probably benign
R5513:Alppl2 UTSW 1 87087338 missense probably benign 0.02
R6258:Alppl2 UTSW 1 87088462 missense probably damaging 1.00
R6260:Alppl2 UTSW 1 87088462 missense probably damaging 1.00
R7026:Alppl2 UTSW 1 87089698 critical splice donor site probably null
R7038:Alppl2 UTSW 1 87089111 missense probably damaging 1.00
R7322:Alppl2 UTSW 1 87087462 missense probably benign 0.26
R7573:Alppl2 UTSW 1 87088231 missense possibly damaging 0.86
R7910:Alppl2 UTSW 1 87087437 missense probably benign 0.00
R7991:Alppl2 UTSW 1 87087437 missense probably benign 0.00
Z1176:Alppl2 UTSW 1 87087666 missense probably damaging 1.00
Z1176:Alppl2 UTSW 1 87087704 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGGGACTCTGCGTCTTTTC -3'
(R):5'- TGATGCACCGTGCTAAGAAAG -3'

Sequencing Primer
(F):5'- GGGACTCTGCGTCTTTTCTACCC -3'
(R):5'- AAGGACCTGGGCAGACC -3'
Posted On2014-08-25