Incidental Mutation 'R1162:Ppef2'
ID100454
Institutional Source Beutler Lab
Gene Symbol Ppef2
Ensembl Gene ENSMUSG00000029410
Gene Nameprotein phosphatase, EF hand calcium-binding domain 2
Synonyms
MMRRC Submission 039235-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1162 (G1)
Quality Score113
Status Validated
Chromosome5
Chromosomal Location92226679-92256278 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 92253121 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 13 (F13L)
Ref Sequence ENSEMBL: ENSMUSP00000144157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031359] [ENSMUST00000113102] [ENSMUST00000201130]
Predicted Effect probably benign
Transcript: ENSMUST00000031359
AA Change: F13L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000031359
Gene: ENSMUSG00000029410
AA Change: F13L

DomainStartEndE-ValueType
IQ 18 40 3.48e-1 SMART
PP2Ac 141 544 1.97e-118 SMART
EFh 576 604 3.25e1 SMART
EFh 660 688 5.44e-3 SMART
EFh 700 728 1.67e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113102
SMART Domains Protein: ENSMUSP00000108726
Gene: ENSMUSG00000029413

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:NAAA-beta 36 127 7.3e-26 PFAM
Pfam:CBAH 131 362 9e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159732
Predicted Effect probably benign
Transcript: ENSMUST00000201130
AA Change: F13L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000144157
Gene: ENSMUSG00000029410
AA Change: F13L

DomainStartEndE-ValueType
IQ 18 40 3.48e-1 SMART
PP2Ac 141 544 1.97e-118 SMART
EFh 576 604 3.25e1 SMART
EFh 660 688 5.44e-3 SMART
EFh 700 728 1.67e0 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.9%
Validation Efficiency 98% (55/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein, which is expressed specifically in photoreceptors and the pineal, has been suggested to play a role in the visual system. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation appear to be phenotypically normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430015G10Rik T C 4: 156,122,418 probably null Het
Adamts12 T A 15: 11,277,458 probably null Het
Cops4 T C 5: 100,530,157 probably benign Het
Cul7 T A 17: 46,663,190 L1467H probably damaging Het
Dgkh A G 14: 78,624,451 C125R probably damaging Het
Dgkz A T 2: 91,944,444 I65N probably damaging Het
Dock10 T A 1: 80,568,842 H743L possibly damaging Het
Dscaml1 T C 9: 45,752,349 probably benign Het
Flt4 C T 11: 49,636,339 probably benign Het
Gbe1 A T 16: 70,381,850 probably benign Het
Gm14685 G T X: 73,127,655 G218C probably damaging Het
Gm7275 A G 16: 48,074,032 noncoding transcript Het
Gpatch1 A G 7: 35,303,480 probably benign Het
Gpr137c A G 14: 45,244,158 I144V possibly damaging Het
Igsf9b T C 9: 27,326,889 S563P probably benign Het
Insl5 C T 4: 103,018,241 R104Q probably benign Het
Kcnj2 T A 11: 111,072,967 V395D probably benign Het
Ksr2 A G 5: 117,554,955 probably benign Het
Lrrc4 C A 6: 28,831,084 L177F probably damaging Het
Mapkbp1 A G 2: 120,025,318 E1506G possibly damaging Het
Morc3 A C 16: 93,853,108 Y259S probably damaging Het
Mrpl43 T G 19: 45,006,358 S13R possibly damaging Het
Myh4 A G 11: 67,258,613 N1724D probably damaging Het
Nab1 A G 1: 52,490,027 M237T probably damaging Het
Nav2 A G 7: 49,536,040 probably benign Het
Nfix G A 8: 84,726,526 R300C probably damaging Het
Nov T A 15: 54,747,782 C104* probably null Het
Nup155 A T 15: 8,157,760 H1391L probably damaging Het
Olfr132 A T 17: 38,131,093 V33D possibly damaging Het
Olfr194 T C 16: 59,119,372 R233G probably damaging Het
Olfr508 A G 7: 108,630,913 N307S probably benign Het
Phf2 A T 13: 48,819,641 probably benign Het
Sap130 C T 18: 31,648,173 P130S probably damaging Het
Scn11a A G 9: 119,805,644 probably benign Het
Sec31b C A 19: 44,517,648 E940* probably null Het
Sgce A G 6: 4,691,419 probably benign Het
Sh3glb2 A T 2: 30,350,588 I155N probably damaging Het
Sirt2 A T 7: 28,785,822 D218V probably damaging Het
Slc16a10 T C 10: 40,076,553 H315R probably benign Het
Sox5 A G 6: 143,960,812 Y306H probably damaging Het
Sucla2 C T 14: 73,560,634 probably benign Het
Tab2 A G 10: 7,924,719 V23A probably damaging Het
Trak1 G T 9: 121,453,341 V429F possibly damaging Het
Trat1 T C 16: 48,740,209 S102G possibly damaging Het
Trub1 G A 19: 57,472,759 V156I probably benign Het
Tspan32 T A 7: 143,006,998 M61K probably damaging Het
Unc13a T A 8: 71,647,917 T1076S probably benign Het
Vangl2 A G 1: 172,004,847 Y481H probably damaging Het
Vmn2r105 C T 17: 20,227,711 E284K probably benign Het
Vmn2r60 A T 7: 42,195,771 I853F probably benign Het
Yrdc T C 4: 124,854,461 probably benign Het
Zfp595 A T 13: 67,317,195 C335S probably damaging Het
Zfp872 A G 9: 22,199,614 S149G possibly damaging Het
Other mutations in Ppef2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01066:Ppef2 APN 5 92234237 missense probably damaging 1.00
IGL01105:Ppef2 APN 5 92249196 missense possibly damaging 0.91
IGL01613:Ppef2 APN 5 92235820 missense probably benign 0.01
IGL01793:Ppef2 APN 5 92246756 missense probably damaging 1.00
IGL02529:Ppef2 APN 5 92244737 missense probably damaging 1.00
IGL02702:Ppef2 APN 5 92231819 missense probably benign 0.01
IGL02992:Ppef2 APN 5 92235900 nonsense probably null
IGL02995:Ppef2 APN 5 92235900 nonsense probably null
IGL02996:Ppef2 APN 5 92235900 nonsense probably null
IGL03169:Ppef2 APN 5 92235900 nonsense probably null
IGL02991:Ppef2 UTSW 5 92235900 nonsense probably null
R0494:Ppef2 UTSW 5 92253093 splice site probably benign
R0659:Ppef2 UTSW 5 92230509 missense probably damaging 1.00
R0781:Ppef2 UTSW 5 92244830 missense probably benign 0.39
R1870:Ppef2 UTSW 5 92250512 missense probably damaging 1.00
R2212:Ppef2 UTSW 5 92228722 missense probably damaging 0.97
R2973:Ppef2 UTSW 5 92239094 missense probably benign
R3412:Ppef2 UTSW 5 92228722 missense probably damaging 0.97
R3413:Ppef2 UTSW 5 92228722 missense probably damaging 0.97
R3745:Ppef2 UTSW 5 92239151 splice site probably benign
R4878:Ppef2 UTSW 5 92228740 splice site probably null
R5027:Ppef2 UTSW 5 92234291 missense probably damaging 1.00
R5156:Ppef2 UTSW 5 92244602 critical splice donor site probably null
R5316:Ppef2 UTSW 5 92235811 missense probably benign 0.00
R5590:Ppef2 UTSW 5 92239139 missense probably damaging 0.99
R5773:Ppef2 UTSW 5 92250561 missense probably damaging 1.00
R5881:Ppef2 UTSW 5 92250529 nonsense probably null
R6032:Ppef2 UTSW 5 92230524 missense probably benign 0.23
R6032:Ppef2 UTSW 5 92230524 missense probably benign 0.23
R6182:Ppef2 UTSW 5 92227066 missense probably damaging 1.00
R6335:Ppef2 UTSW 5 92235754 missense probably damaging 1.00
R6645:Ppef2 UTSW 5 92230461 missense probably benign 0.02
R7448:Ppef2 UTSW 5 92228704 missense probably damaging 1.00
R7576:Ppef2 UTSW 5 92253134 missense possibly damaging 0.87
R7968:Ppef2 UTSW 5 92249163 missense probably damaging 0.99
R7988:Ppef2 UTSW 5 92238982 missense probably benign 0.00
R8200:Ppef2 UTSW 5 92245392 missense probably benign 0.13
R8212:Ppef2 UTSW 5 92228665 missense possibly damaging 0.87
Predicted Primers
Posted On2014-01-15