Incidental Mutation 'IGL01099:Phlda2'
ID 278173
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phlda2
Ensembl Gene ENSMUSG00000010760
Gene Name pleckstrin homology like domain, family A, member 2
Synonyms Ipl, Tssc3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01099
Quality Score
Status
Chromosome 7
Chromosomal Location 143055282-143056882 bp(-) (GRCm39)
Type of Mutation splice site (36 bp from exon)
DNA Base Change (assembly) G to A at 143055876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010904] [ENSMUST00000052348] [ENSMUST00000105917] [ENSMUST00000145943] [ENSMUST00000207425]
AlphaFold O08969
Predicted Effect probably null
Transcript: ENSMUST00000010904
AA Change: Q118*
SMART Domains Protein: ENSMUSP00000010904
Gene: ENSMUSG00000010760
AA Change: Q118*

DomainStartEndE-ValueType
PH 18 111 1.54e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000052348
SMART Domains Protein: ENSMUSP00000056082
Gene: ENSMUSG00000000154

DomainStartEndE-ValueType
Pfam:MFS_1 14 339 1.1e-31 PFAM
Pfam:MFS_1 229 410 5.2e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105917
SMART Domains Protein: ENSMUSP00000101537
Gene: ENSMUSG00000000154

DomainStartEndE-ValueType
Pfam:MFS_1 14 337 7.8e-32 PFAM
Pfam:MFS_3 66 346 6.5e-9 PFAM
Pfam:MFS_1 229 410 3.2e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145943
SMART Domains Protein: ENSMUSP00000115345
Gene: ENSMUSG00000000154

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000207425
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207561
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene is one of several genes in the imprinted gene domain on chromosome 7. Studies using knockout mice have shown that the product of this gene regulates placental growth. Transcripts from this gene are most abundant in placenta and yolk sac, and are almost entirely transcribed from the maternal allele. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene have enlarged placentas but display little change in fetal weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G A 11: 109,965,031 (GRCm39) probably benign Het
Adam28 A G 14: 68,874,778 (GRCm39) probably null Het
Adcy10 A G 1: 165,367,411 (GRCm39) I560M probably benign Het
Alpl G A 4: 137,470,624 (GRCm39) probably benign Het
Ank1 G A 8: 23,598,265 (GRCm39) G753D probably damaging Het
Arhgef28 A T 13: 98,090,480 (GRCm39) probably benign Het
Bmp7 A T 2: 172,717,055 (GRCm39) C329S probably damaging Het
Capn13 T C 17: 73,658,504 (GRCm39) D188G probably damaging Het
Car10 G A 11: 93,469,516 (GRCm39) E164K possibly damaging Het
Cfhr1 T A 1: 139,475,497 (GRCm39) probably benign Het
Col11a1 C T 3: 113,905,690 (GRCm39) R562* probably null Het
Colec12 C T 18: 9,848,826 (GRCm39) R335C probably damaging Het
Cyb561d2 C T 9: 107,417,488 (GRCm39) probably null Het
Epb41l3 A G 17: 69,517,188 (GRCm39) D72G possibly damaging Het
Etl4 T C 2: 20,811,922 (GRCm39) L1335P probably benign Het
F5 T G 1: 164,021,903 (GRCm39) N1459K probably damaging Het
Fam161a T C 11: 22,965,894 (GRCm39) probably benign Het
Flnc G A 6: 29,433,617 (GRCm39) V54M probably damaging Het
Fndc3b T C 3: 27,517,966 (GRCm39) I607V probably benign Het
Fscb A G 12: 64,518,875 (GRCm39) S864P unknown Het
Glod4 T A 11: 76,130,376 (GRCm39) K36* probably null Het
Gm6619 G A 6: 131,467,393 (GRCm39) R86Q possibly damaging Het
Gm7052 T C 17: 22,258,706 (GRCm39) probably benign Het
Gyg1 A T 3: 20,205,211 (GRCm39) M119K probably benign Het
Ifit2 A T 19: 34,550,702 (GRCm39) I81F probably damaging Het
Insr T C 8: 3,308,682 (GRCm39) Y118C probably damaging Het
Katnip T A 7: 125,464,492 (GRCm39) H1286Q probably damaging Het
Kcnh3 T C 15: 99,137,617 (GRCm39) S771P probably benign Het
Kndc1 C A 7: 139,500,700 (GRCm39) H688Q probably damaging Het
Mybpc2 A G 7: 44,165,591 (GRCm39) C330R probably damaging Het
Naa50 A T 16: 43,976,832 (GRCm39) N23I probably damaging Het
Nt5el A T 13: 105,245,868 (GRCm39) H143L probably benign Het
Or55b4 T A 7: 102,133,685 (GRCm39) D214V probably damaging Het
Or5a1 A G 19: 12,097,240 (GRCm39) S279P probably damaging Het
Or8b48 T C 9: 38,493,373 (GRCm39) S267P probably benign Het
Or8c16 T C 9: 38,131,039 (GRCm39) S307P probably benign Het
Pfkp A T 13: 6,653,426 (GRCm39) probably benign Het
Plxnd1 C A 6: 115,946,906 (GRCm39) V823L probably benign Het
Prpf40a T A 2: 53,031,847 (GRCm39) H794L probably benign Het
Ripor2 A T 13: 24,885,190 (GRCm39) H436L probably benign Het
Rnf138 T A 18: 21,153,970 (GRCm39) C159S possibly damaging Het
Scn7a A T 2: 66,514,582 (GRCm39) V1064D probably damaging Het
Slc12a2 T A 18: 58,039,092 (GRCm39) C557* probably null Het
Slc1a6 T C 10: 78,624,831 (GRCm39) S79P possibly damaging Het
Snapin G A 3: 90,397,909 (GRCm39) probably benign Het
Tdp1 A T 12: 99,881,704 (GRCm39) probably benign Het
Tigar G T 6: 127,065,108 (GRCm39) A180E probably benign Het
Trav6-2 A T 14: 52,905,122 (GRCm39) T48S probably benign Het
Ttn A G 2: 76,558,776 (GRCm39) Y29702H probably damaging Het
Ush1c A G 7: 45,854,686 (GRCm39) S689P probably damaging Het
Vmn1r40 A T 6: 89,691,578 (GRCm39) I132F probably damaging Het
Vmn1r85 T A 7: 12,818,461 (GRCm39) K228* probably null Het
Wdr33 C A 18: 32,039,842 (GRCm39) probably benign Het
Ybx2 A T 11: 69,831,556 (GRCm39) Q136L probably damaging Het
Ypel1 T A 16: 16,909,076 (GRCm39) M368L probably damaging Het
Other mutations in Phlda2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4965:Phlda2 UTSW 7 143,056,005 (GRCm39) missense probably damaging 0.96
R6631:Phlda2 UTSW 7 143,055,918 (GRCm39) missense probably damaging 1.00
R8691:Phlda2 UTSW 7 143,056,206 (GRCm39) missense probably benign
R8738:Phlda2 UTSW 7 143,055,959 (GRCm39) missense probably damaging 1.00
R8786:Phlda2 UTSW 7 143,056,211 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16