Incidental Mutation 'R8691:Phlda2'
ID 668371
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 068545-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8691 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 143055282-143056882 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 143056206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 8 (S8A)
Ref Sequence ENSEMBL: ENSMUSP00000010904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010904] [ENSMUST00000052348] [ENSMUST00000105917] [ENSMUST00000145943] [ENSMUST00000207425]
AlphaFold O08969
Predicted Effect probably benign
Transcript: ENSMUST00000010904
AA Change: S8A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000010904
Gene: ENSMUSG00000010760
AA Change: S8A

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 benign
Transcript: ENSMUST00000207425
AA Change: S8A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (54/55)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110082J24Rik G T 5: 30,310,287 (GRCm39) A24E unknown Het
Acap1 A G 11: 69,781,003 (GRCm39) L117P probably damaging Het
Actl6b G A 5: 137,565,585 (GRCm39) G394S probably damaging Het
Actr3b G T 5: 26,030,202 (GRCm39) V177F possibly damaging Het
Adamts6 A G 13: 104,450,839 (GRCm39) T341A probably benign Het
Agbl4 G T 4: 111,520,156 (GRCm39) V474F probably benign Het
Atosa A T 9: 74,917,335 (GRCm39) T652S probably benign Het
Bach1 T C 16: 87,516,517 (GRCm39) S353P probably benign Het
C1qtnf9 G A 14: 61,017,141 (GRCm39) D224N probably damaging Het
Camkmt A T 17: 85,421,260 (GRCm39) N121Y probably damaging Het
Card6 A T 15: 5,129,078 (GRCm39) Y773N possibly damaging Het
Cbfa2t2 C A 2: 154,342,403 (GRCm39) P40T possibly damaging Het
Colec10 A C 15: 54,298,420 (GRCm39) E60D probably benign Het
Cspg4 T C 9: 56,800,280 (GRCm39) V1647A probably benign Het
Cyp2d34 A G 15: 82,502,471 (GRCm39) F222L probably benign Het
Dennd1b A T 1: 138,969,774 (GRCm39) I97F possibly damaging Het
Deptor A C 15: 55,083,596 (GRCm39) D388A possibly damaging Het
Dhx40 T C 11: 86,690,419 (GRCm39) K201E possibly damaging Het
Dnah6 G A 6: 73,145,850 (GRCm39) R854C probably damaging Het
Dock9 T C 14: 121,877,517 (GRCm39) I409V possibly damaging Het
Eif1ad16 T G 12: 87,985,278 (GRCm39) K88N probably damaging Het
Esp31 G T 17: 38,955,592 (GRCm39) L78F possibly damaging Het
Fam98c A T 7: 28,852,889 (GRCm39) V48E probably damaging Het
Fcgbpl1 A T 7: 27,853,264 (GRCm39) E1517V possibly damaging Het
Fgfr1 A T 8: 26,052,253 (GRCm39) D193V possibly damaging Het
Furin C T 7: 80,041,775 (GRCm39) probably benign Het
Gm17078 A T 14: 51,848,693 (GRCm39) F15I probably damaging Het
Grid2 G T 6: 63,480,321 (GRCm39) R45L probably damaging Het
Hecw2 A G 1: 53,904,223 (GRCm39) V1175A probably benign Het
Hspa1b T C 17: 35,176,072 (GRCm39) I638V possibly damaging Het
Ighv6-7 A G 12: 114,419,304 (GRCm39) V100A probably benign Het
Itch G T 2: 155,052,478 (GRCm39) E693* probably null Het
Ivl G A 3: 92,478,823 (GRCm39) S414L unknown Het
Kif5b T A 18: 6,225,787 (GRCm39) N160I probably benign Het
Klhl5 A G 5: 65,306,881 (GRCm39) probably benign Het
Lpin1 C T 12: 16,623,660 (GRCm39) probably benign Het
Malsu1 C A 6: 49,052,171 (GRCm39) H130Q probably benign Het
Naip2 A C 13: 100,297,676 (GRCm39) L787V probably damaging Het
Nynrin C T 14: 56,110,106 (GRCm39) R1738W probably damaging Het
Or11g27 A G 14: 50,770,910 (GRCm39) T14A probably benign Het
Or4e1 A T 14: 52,701,358 (GRCm39) I36N possibly damaging Het
Or51d1 C T 7: 102,347,777 (GRCm39) Q111* probably null Het
Or7e176 T A 9: 20,171,747 (GRCm39) S204T probably benign Het
Pclo A G 5: 14,571,706 (GRCm39) T364A unknown Het
Pou3f1 G A 4: 124,551,549 (GRCm39) G17E unknown Het
Ppfibp2 A G 7: 107,346,785 (GRCm39) D899G probably damaging Het
Pskh1 T C 8: 106,639,833 (GRCm39) V171A probably damaging Het
Rictor A G 15: 6,816,513 (GRCm39) T1262A probably damaging Het
Rnf41 T C 10: 128,274,077 (GRCm39) V243A probably benign Het
Slc9c1 T A 16: 45,427,182 (GRCm39) N1162K probably benign Het
Spef2 A T 15: 9,602,005 (GRCm39) L1419* probably null Het
Tenm4 C T 7: 96,555,148 (GRCm39) P2618S probably benign Het
Tnc A G 4: 63,880,313 (GRCm39) C1954R probably damaging Het
Ttll11 T A 2: 35,674,161 (GRCm39) I622F probably damaging Het
Utp25 T C 1: 192,796,110 (GRCm39) E673G probably benign Het
Vmn2r104 A G 17: 20,262,110 (GRCm39) I340T probably damaging Het
Vmn2r110 G T 17: 20,803,404 (GRCm39) D390E probably benign 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
R6631:Phlda2 UTSW 7 143,055,918 (GRCm39) missense probably damaging 1.00
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'- CGTACTTAGAGGTGTGCTCC -3'
(R):5'- GCTTCAAGCAATGGGTAAGG -3'

Sequencing Primer
(F):5'- CAGTCCACCTTGAGGATGGAGTG -3'
(R):5'- TGGGTAAGGGGCAGCCTG -3'
Posted On 2021-04-30