Incidental Mutation 'IGL01793:Ppef2'
ID 155282
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppef2
Ensembl Gene ENSMUSG00000029410
Gene Name protein phosphatase, EF hand calcium-binding domain 2
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01793
Quality Score
Status
Chromosome 5
Chromosomal Location 92374538-92404137 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 92394615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 186 (D186E)
Ref Sequence ENSEMBL: ENSMUSP00000144157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031359] [ENSMUST00000201130]
AlphaFold O35385
Predicted Effect probably damaging
Transcript: ENSMUST00000031359
AA Change: D186E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031359
Gene: ENSMUSG00000029410
AA Change: D186E

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 damaging
Transcript: ENSMUST00000201130
AA Change: D186E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144157
Gene: ENSMUSG00000029410
AA Change: D186E

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
Coding Region Coverage
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 A G 1: 58,375,783 (GRCm39) I871V possibly damaging Het
Bbs7 A T 3: 36,659,831 (GRCm39) probably null Het
D930020B18Rik T C 10: 121,507,736 (GRCm39) I158T probably damaging Het
Drc7 T C 8: 95,797,905 (GRCm39) I441T probably benign Het
Etl4 T C 2: 20,748,709 (GRCm39) I147T possibly damaging Het
Fat1 G A 8: 45,442,149 (GRCm39) M1150I probably benign Het
Fbn1 T C 2: 125,229,213 (GRCm39) S523G possibly damaging Het
Gramd1a C T 7: 30,833,838 (GRCm39) probably null Het
Hc A G 2: 34,918,202 (GRCm39) Y694H probably damaging Het
Kif6 T A 17: 49,931,521 (GRCm39) I73N probably damaging Het
Large1 A G 8: 73,585,809 (GRCm39) probably benign Het
Luzp2 G T 7: 54,821,997 (GRCm39) L171F probably damaging Het
Naaladl1 C A 19: 6,159,661 (GRCm39) probably null Het
Otop1 G A 5: 38,457,215 (GRCm39) A325T possibly damaging Het
Parp8 T A 13: 117,047,415 (GRCm39) Y219F probably damaging Het
Pkp3 A G 7: 140,668,817 (GRCm39) I660V probably benign Het
Plin3 T C 17: 56,588,540 (GRCm39) N238S probably benign Het
Rab40c G A 17: 26,103,596 (GRCm39) L156F probably damaging Het
Scnn1a T C 6: 125,320,666 (GRCm39) V547A probably benign Het
Spag6l A G 16: 16,599,721 (GRCm39) V247A probably damaging Het
Syne1 T C 10: 5,302,191 (GRCm39) E853G possibly damaging Het
Synj2 C T 17: 6,077,500 (GRCm39) R460* probably null Het
Synj2 T A 17: 6,088,321 (GRCm39) H1457Q probably benign Het
Syt1 T C 10: 108,419,836 (GRCm39) D275G possibly damaging Het
Tmx1 A G 12: 70,505,561 (GRCm39) D108G probably benign Het
Vmn1r180 T C 7: 23,652,668 (GRCm39) V277A probably benign Het
Vmn1r83 C T 7: 12,055,504 (GRCm39) M184I probably benign Het
Zfp750 G T 11: 121,404,810 (GRCm39) P22T probably damaging Het
Zscan2 A G 7: 80,524,692 (GRCm39) I138V probably null Het
Other mutations in Ppef2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01066:Ppef2 APN 5 92,382,096 (GRCm39) missense probably damaging 1.00
IGL01105:Ppef2 APN 5 92,397,055 (GRCm39) missense possibly damaging 0.91
IGL01613:Ppef2 APN 5 92,383,679 (GRCm39) missense probably benign 0.01
IGL02529:Ppef2 APN 5 92,392,596 (GRCm39) missense probably damaging 1.00
IGL02702:Ppef2 APN 5 92,379,678 (GRCm39) missense probably benign 0.01
IGL02992:Ppef2 APN 5 92,383,759 (GRCm39) nonsense probably null
IGL02995:Ppef2 APN 5 92,383,759 (GRCm39) nonsense probably null
IGL02996:Ppef2 APN 5 92,383,759 (GRCm39) nonsense probably null
IGL03169:Ppef2 APN 5 92,383,759 (GRCm39) nonsense probably null
IGL02991:Ppef2 UTSW 5 92,383,759 (GRCm39) nonsense probably null
R0494:Ppef2 UTSW 5 92,400,952 (GRCm39) splice site probably benign
R0659:Ppef2 UTSW 5 92,378,368 (GRCm39) missense probably damaging 1.00
R0781:Ppef2 UTSW 5 92,392,689 (GRCm39) missense probably benign 0.39
R1162:Ppef2 UTSW 5 92,400,980 (GRCm39) missense probably benign 0.00
R1870:Ppef2 UTSW 5 92,398,371 (GRCm39) missense probably damaging 1.00
R2212:Ppef2 UTSW 5 92,376,581 (GRCm39) missense probably damaging 0.97
R2973:Ppef2 UTSW 5 92,386,953 (GRCm39) missense probably benign
R3412:Ppef2 UTSW 5 92,376,581 (GRCm39) missense probably damaging 0.97
R3413:Ppef2 UTSW 5 92,376,581 (GRCm39) missense probably damaging 0.97
R3745:Ppef2 UTSW 5 92,387,010 (GRCm39) splice site probably benign
R4878:Ppef2 UTSW 5 92,376,599 (GRCm39) splice site probably null
R5027:Ppef2 UTSW 5 92,382,150 (GRCm39) missense probably damaging 1.00
R5156:Ppef2 UTSW 5 92,392,461 (GRCm39) critical splice donor site probably null
R5316:Ppef2 UTSW 5 92,383,670 (GRCm39) missense probably benign 0.00
R5590:Ppef2 UTSW 5 92,386,998 (GRCm39) missense probably damaging 0.99
R5773:Ppef2 UTSW 5 92,398,420 (GRCm39) missense probably damaging 1.00
R5881:Ppef2 UTSW 5 92,398,388 (GRCm39) nonsense probably null
R6032:Ppef2 UTSW 5 92,378,383 (GRCm39) missense probably benign 0.23
R6032:Ppef2 UTSW 5 92,378,383 (GRCm39) missense probably benign 0.23
R6182:Ppef2 UTSW 5 92,374,925 (GRCm39) missense probably damaging 1.00
R6335:Ppef2 UTSW 5 92,383,613 (GRCm39) missense probably damaging 1.00
R6645:Ppef2 UTSW 5 92,378,320 (GRCm39) missense probably benign 0.02
R7448:Ppef2 UTSW 5 92,376,563 (GRCm39) missense probably damaging 1.00
R7576:Ppef2 UTSW 5 92,400,993 (GRCm39) missense possibly damaging 0.87
R7968:Ppef2 UTSW 5 92,397,022 (GRCm39) missense probably damaging 0.99
R7988:Ppef2 UTSW 5 92,386,841 (GRCm39) missense probably benign 0.00
R8200:Ppef2 UTSW 5 92,393,251 (GRCm39) missense probably benign 0.13
R8212:Ppef2 UTSW 5 92,376,524 (GRCm39) missense possibly damaging 0.87
R9687:Ppef2 UTSW 5 92,386,746 (GRCm39) missense probably benign 0.01
Posted On 2014-02-04