Incidental Mutation 'R6335:Ppef2'
ID 512902
Institutional Source Beutler Lab
Gene Symbol Ppef2
Ensembl Gene ENSMUSG00000029410
Gene Name protein phosphatase, EF hand calcium-binding domain 2
Synonyms
MMRRC Submission 044489-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6335 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 92374538-92404137 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92383613 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 499 (Y499C)
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: Y499C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031359
Gene: ENSMUSG00000029410
AA Change: Y499C

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: Y499C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144157
Gene: ENSMUSG00000029410
AA Change: Y499C

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 100% (59/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp11a T C 8: 12,909,481 (GRCm39) probably null Het
Best3 G T 10: 116,838,556 (GRCm39) V205F probably benign Het
C1qtnf1 A G 11: 118,338,960 (GRCm39) H210R probably damaging Het
Camkv T C 9: 107,823,894 (GRCm39) probably null Het
Cdk5rap2 A C 4: 70,184,849 (GRCm39) D1200E possibly damaging Het
Cep192 T A 18: 67,967,784 (GRCm39) I756N probably damaging Het
Crocc2 A T 1: 93,130,560 (GRCm39) Q947L probably benign Het
Dcaf1 A G 9: 106,715,845 (GRCm39) T321A possibly damaging Het
Dgkz T C 2: 91,774,724 (GRCm39) M87V probably benign Het
Dmrt2 T A 19: 25,650,935 (GRCm39) S40R possibly damaging Het
Dpep1 T G 8: 123,927,391 (GRCm39) L315R probably damaging Het
Fam221b G T 4: 43,665,942 (GRCm39) T223N possibly damaging Het
Fasn A T 11: 120,706,185 (GRCm39) V1053E probably damaging Het
Galc T C 12: 98,208,973 (GRCm39) D227G probably damaging Het
Grik1 A G 16: 87,744,794 (GRCm39) L486P probably damaging Het
Grik5 A G 7: 24,713,019 (GRCm39) S836P probably benign Het
Grpel2 T C 18: 61,852,792 (GRCm39) K70R possibly damaging Het
Ipo7 A G 7: 109,617,675 (GRCm39) D15G possibly damaging Het
Iqgap1 A G 7: 80,377,772 (GRCm39) Y1284H probably damaging Het
Lmo7 T C 14: 102,138,072 (GRCm39) S692P probably damaging Het
Mecom A G 3: 30,034,905 (GRCm39) L447P probably damaging Het
Mtor A G 4: 148,550,384 (GRCm39) D680G probably damaging Het
Muc16 T A 9: 18,572,004 (GRCm39) I172F unknown Het
Musk A G 4: 58,366,811 (GRCm39) I476M probably benign Het
Myef2 T C 2: 124,951,632 (GRCm39) T268A probably damaging Het
Naip1 A G 13: 100,563,060 (GRCm39) S702P probably damaging Het
Napa G T 7: 15,849,562 (GRCm39) S258I probably benign Het
Nfasc T A 1: 132,504,132 (GRCm39) I1039F probably damaging Het
Nlrc5 A G 8: 95,228,902 (GRCm39) S1238G probably benign Het
Or10q12 T C 19: 13,746,144 (GRCm39) V146A probably benign Het
Or1j12 A G 2: 36,342,734 (GRCm39) I46V probably benign Het
Or5w8 T A 2: 87,687,811 (GRCm39) C97* probably null Het
Pacs1 G T 19: 5,210,005 (GRCm39) N215K probably damaging Het
Parp10 A G 15: 76,126,388 (GRCm39) S267P probably benign Het
Pbrm1 G T 14: 30,806,052 (GRCm39) C995F probably damaging Het
Pcdh7 A T 5: 58,099,607 (GRCm39) probably null Het
Pramel16 G T 4: 143,675,602 (GRCm39) T408K probably benign Het
Prex2 A C 1: 11,180,544 (GRCm39) I370L probably benign Het
Ptprd A G 4: 75,872,420 (GRCm39) Y1350H probably damaging Het
Rasgrp1 T C 2: 117,124,351 (GRCm39) K284E probably damaging Het
Rexo1 A T 10: 80,379,915 (GRCm39) Y23N probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Sash3 C T X: 47,248,398 (GRCm39) L307F probably damaging Homo
Scn9a T A 2: 66,398,608 (GRCm39) M1L possibly damaging Het
Serpinb6e C A 13: 34,021,805 (GRCm39) L174F probably benign Het
Siae C T 9: 37,544,277 (GRCm39) T275I probably benign Het
Sptbn5 C A 2: 119,884,900 (GRCm39) probably benign Het
Ss18l2 C T 9: 121,541,672 (GRCm39) T55I probably damaging Het
Taf1c A G 8: 120,328,518 (GRCm39) C163R probably damaging Het
Tanc2 C T 11: 105,748,382 (GRCm39) R505W probably damaging Het
Tango6 C A 8: 107,419,308 (GRCm39) P285Q possibly damaging Het
Tdrd9 G T 12: 112,008,186 (GRCm39) probably null Het
Tead3 A T 17: 28,552,299 (GRCm39) L307H probably damaging Het
Ticrr A C 7: 79,344,031 (GRCm39) probably null Het
Trpc4 T C 3: 54,224,995 (GRCm39) probably null Het
Upb1 A T 10: 75,264,135 (GRCm39) T194S probably benign Het
Vav3 A G 3: 109,470,512 (GRCm39) N566S probably benign Het
Vmn1r196 T A 13: 22,477,887 (GRCm39) S175R probably benign Het
Zscan29 T C 2: 120,991,917 (GRCm39) N589D possibly damaging 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
IGL01793:Ppef2 APN 5 92,394,615 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGGCATAGAAAACCCTACTCTGG -3'
(R):5'- AGTGGCTGTGAACCTCCTCTTC -3'

Sequencing Primer
(F):5'- GTTCTGAGGAACCTGACACTC -3'
(R):5'- AACCTCCTCTTCTTCCTAGGTTGTAG -3'
Posted On 2018-04-27