Incidental Mutation 'R6631:Phlda2'
ID 525126
Institutional Source Beutler Lab
Gene Symbol Phlda2
Ensembl Gene ENSMUSG00000010760
Gene Name pleckstrin homology like domain, family A, member 2
Synonyms Ipl, Tssc3
MMRRC Submission 044753-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6631 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 143055282-143056882 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 143055918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 104 (I104F)
Ref Sequence ENSEMBL: ENSMUSP00000010904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010904] [ENSMUST00000052348] [ENSMUST00000105917] [ENSMUST00000145943] [ENSMUST00000207425]
AlphaFold O08969
Predicted Effect probably damaging
Transcript: ENSMUST00000010904
AA Change: I104F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000010904
Gene: ENSMUSG00000010760
AA Change: I104F

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 damaging
Transcript: ENSMUST00000207425
AA Change: I104F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207561
Meta Mutation Damage Score 0.5507 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency 96% (50/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik A T 9: 15,203,326 (GRCm39) N159K probably damaging Het
Arhgef10l T C 4: 140,245,058 (GRCm39) probably benign Het
Atosa A G 9: 74,861,107 (GRCm39) D4G possibly damaging Het
Avil A G 10: 126,843,618 (GRCm39) S153G possibly damaging Het
C2cd3 G A 7: 100,067,747 (GRCm39) D877N probably damaging Het
Clca3a2 G A 3: 144,519,405 (GRCm39) A257V probably benign Het
Cramp1 T A 17: 25,202,931 (GRCm39) H366L probably benign Het
Cyp2c37 C T 19: 39,998,287 (GRCm39) S393L probably damaging Het
Defb8 T A 8: 19,495,950 (GRCm39) I37L probably benign Het
Dennd4b C A 3: 90,185,039 (GRCm39) probably null Het
Eps8l2 G A 7: 140,936,115 (GRCm39) R223H probably damaging Het
Erbin A G 13: 103,961,400 (GRCm39) L1302P probably benign Het
Exoc3l A G 8: 106,021,993 (GRCm39) W37R probably damaging Het
Fap T C 2: 62,333,725 (GRCm39) N668S probably damaging Het
Gas7 A G 11: 67,565,107 (GRCm39) N250S probably damaging Het
H2bc12 T A 13: 22,220,391 (GRCm39) V112E probably damaging Het
Hivep1 C A 13: 42,309,956 (GRCm39) P732Q probably damaging Het
Irx4 G T 13: 73,416,545 (GRCm39) A314S probably benign Het
Itgb8 A T 12: 119,144,712 (GRCm39) L332* probably null Het
Kctd19 A G 8: 106,111,960 (GRCm39) probably null Het
Kif14 G A 1: 136,443,697 (GRCm39) S1290N probably benign Het
Klk1b3 C T 7: 43,850,888 (GRCm39) T140I probably benign Het
Lama1 A G 17: 68,081,477 (GRCm39) N1305D probably benign Het
Lrp1 A T 10: 127,410,201 (GRCm39) V1515E probably damaging Het
Man2b1 A G 8: 85,813,440 (GRCm39) probably null Het
Mocos A G 18: 24,832,988 (GRCm39) T818A probably benign Het
Mpc2 G T 1: 165,307,081 (GRCm39) W94L probably benign Het
Mrc1 G A 2: 14,243,296 (GRCm39) V141I probably benign Het
Nalcn T C 14: 123,697,663 (GRCm39) T538A probably benign Het
Ndufs3 G A 2: 90,732,744 (GRCm39) T114M probably damaging Het
Noct T C 3: 51,157,621 (GRCm39) C320R probably damaging Het
Or5b117 T A 19: 13,431,185 (GRCm39) Q232L probably benign Het
Pcdha11 G T 18: 37,138,844 (GRCm39) A158S probably damaging Het
Pcdhga8 T A 18: 37,860,109 (GRCm39) D388E probably benign Het
Peg3 T C 7: 6,712,069 (GRCm39) E1051G possibly damaging Het
Polr2a A G 11: 69,626,339 (GRCm39) S1604P possibly damaging Het
Pomt2 C T 12: 87,186,417 (GRCm39) probably null Het
Ppp6r2 G A 15: 89,137,458 (GRCm39) probably null Het
Prdm2 T G 4: 142,861,454 (GRCm39) Q612P probably benign Het
Prr5 C A 15: 84,586,978 (GRCm39) R243S probably damaging Het
Ptgdr2 T C 19: 10,918,233 (GRCm39) I250T probably benign Het
Rad54l2 A T 9: 106,590,739 (GRCm39) C462* probably null Het
Sec16a T A 2: 26,329,969 (GRCm39) E682V probably damaging Het
Serpina3i A G 12: 104,232,725 (GRCm39) D210G probably damaging Het
Slain2 T A 5: 73,114,748 (GRCm39) D326E probably benign Het
Sned1 A G 1: 93,209,374 (GRCm39) E829G probably damaging Het
Steap4 G A 5: 8,026,995 (GRCm39) W319* probably null Het
Taar8c A G 10: 23,977,701 (GRCm39) V37A probably benign Het
Tdrd12 T A 7: 35,184,654 (GRCm39) Y753F probably damaging Het
Tnxb A G 17: 34,937,222 (GRCm39) S3770G probably damaging Het
Trrap A G 5: 144,708,460 (GRCm39) N48S possibly damaging Het
Zfp558 C A 9: 18,368,219 (GRCm39) G190* probably null Het
Other mutations in Phlda2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01099:Phlda2 APN 7 143,055,876 (GRCm39) splice site probably null
R4965:Phlda2 UTSW 7 143,056,005 (GRCm39) missense probably damaging 0.96
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
Predicted Primers PCR Primer
(F):5'- ATCGAAGTTTTCCCCACTGG -3'
(R):5'- ACCTCCGACGAGATCCTTTG -3'

Sequencing Primer
(F):5'- GAGGCATGACCCCCATTC -3'
(R):5'- AAGCGACAGCCTGTTCCAG -3'
Posted On 2018-06-22