Incidental Mutation 'IGL01866:Ppp2r5c'
ID 178501
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp2r5c
Ensembl Gene ENSMUSG00000017843
Gene Name protein phosphatase 2, regulatory subunit B', gamma
Synonyms 2610043M05Rik, D12Bwg0916e, B56/PP2A gamma, Band 8A, 2700063L20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01866
Quality Score
Status
Chromosome 12
Chromosomal Location 110413554-110549496 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110534261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 375 (Y375H)
Ref Sequence ENSEMBL: ENSMUSP00000152865 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084985] [ENSMUST00000109832] [ENSMUST00000221074] [ENSMUST00000221715]
AlphaFold Q60996
Predicted Effect probably benign
Transcript: ENSMUST00000084985
AA Change: Y375H

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000082053
Gene: ENSMUSG00000017843
AA Change: Y375H

DomainStartEndE-ValueType
Pfam:B56 27 437 1.6e-199 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109832
AA Change: Y375H

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105458
Gene: ENSMUSG00000017843
AA Change: Y375H

DomainStartEndE-ValueType
Pfam:B56 26 438 3e-178 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000221074
AA Change: Y375H

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000221715
AA Change: Y375H

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223168
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene-trapped allele show partial neonatal lethality, hypoactivity, and abnormal ventricular septum formation associated with increased fetal cardiomyocyte apoptosis. Surviving homozygotes develop obesity and show an abnormal gait, decreased grip strength, and impaired balance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm1 T C 4: 144,255,119 (GRCm39) Y180H possibly damaging Het
Abi3bp A T 16: 56,492,336 (GRCm39) I1361L probably benign Het
Amph A T 13: 19,326,172 (GRCm39) D634V probably damaging Het
Ank1 G A 8: 23,583,871 (GRCm39) V317I possibly damaging Het
Ap4e1 G A 2: 126,888,830 (GRCm39) V460I possibly damaging Het
Arhgap19 A T 19: 41,775,016 (GRCm39) H198Q probably benign Het
Cacna1g C T 11: 94,347,937 (GRCm39) G717D probably damaging Het
Camkk2 A G 5: 122,902,013 (GRCm39) S99P probably damaging Het
Catsperb T A 12: 101,475,570 (GRCm39) Y371* probably null Het
Cbl A T 9: 44,065,122 (GRCm39) C735* probably null Het
Ccdc146 C A 5: 21,538,052 (GRCm39) A91S probably damaging Het
Col1a2 G T 6: 4,524,132 (GRCm39) D531Y probably damaging Het
Dscam T A 16: 96,486,550 (GRCm39) T1042S probably benign Het
Dtnb A G 12: 3,782,626 (GRCm39) Y363C probably benign Het
Ear10 A G 14: 44,160,785 (GRCm39) L14P probably damaging Het
Egf A G 3: 129,529,529 (GRCm39) S294P probably benign Het
Erbb3 T C 10: 128,405,237 (GRCm39) *1340W probably null Het
Fam217b A G 2: 178,062,224 (GRCm39) T63A probably benign Het
Fig4 G A 10: 41,108,160 (GRCm39) P680L possibly damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm6882 T A 7: 21,161,512 (GRCm39) I119F probably damaging Het
Hdac10 C A 15: 89,008,736 (GRCm39) G442W probably damaging Het
Mc2r C T 18: 68,540,494 (GRCm39) M266I possibly damaging Het
Mep1b A G 18: 21,228,050 (GRCm39) Q551R probably benign Het
Mtrf1 T A 14: 79,638,948 (GRCm39) C27S probably benign Het
Myo5c T A 9: 75,176,864 (GRCm39) M603K probably benign Het
Nuf2 A G 1: 169,326,407 (GRCm39) L448P possibly damaging Het
Or10a49 C T 7: 108,468,006 (GRCm39) M118I possibly damaging Het
Or1e30 A T 11: 73,678,654 (GRCm39) I297L probably benign Het
Or2b7 T C 13: 21,739,343 (GRCm39) N283S probably benign Het
Or8g33 A T 9: 39,338,025 (GRCm39) M114K probably damaging Het
Pstpip2 A G 18: 77,965,325 (GRCm39) I317M probably benign Het
Pxdn A G 12: 30,034,570 (GRCm39) T208A probably benign Het
Rab3gap1 C T 1: 127,818,817 (GRCm39) H116Y probably damaging Het
Rarb T A 14: 16,443,751 (GRCm38) D179V probably benign Het
Rasal1 G A 5: 120,813,488 (GRCm39) A621T probably damaging Het
Rnf6 G A 5: 146,147,717 (GRCm39) R434C probably damaging Het
Scn10a C A 9: 119,464,568 (GRCm39) E1011* probably null Het
Sec24d C T 3: 123,087,244 (GRCm39) Q137* probably null Het
Slc35g1 C A 19: 38,391,642 (GRCm39) A308E probably damaging Het
Smtnl1 C A 2: 84,649,089 (GRCm39) C55F possibly damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Stt3a A T 9: 36,645,662 (GRCm39) D676E probably benign Het
Sytl2 T C 7: 90,031,047 (GRCm39) probably benign Het
Trabd2b A G 4: 114,266,117 (GRCm39) T44A probably damaging Het
Trim12a T C 7: 103,953,360 (GRCm39) probably benign Het
Tti1 A T 2: 157,849,618 (GRCm39) D540E probably benign Het
Tubgcp6 A G 15: 88,987,691 (GRCm39) V1094A probably benign Het
Vmn1r34 A G 6: 66,614,373 (GRCm39) Y122H probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zfp579 T A 7: 4,997,257 (GRCm39) Q218L possibly damaging Het
Other mutations in Ppp2r5c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Ppp2r5c APN 12 110,534,261 (GRCm39) missense probably benign 0.09
IGL01743:Ppp2r5c APN 12 110,546,868 (GRCm39) missense probably benign 0.00
IGL02883:Ppp2r5c APN 12 110,488,997 (GRCm39) missense possibly damaging 0.48
IGL02944:Ppp2r5c APN 12 110,534,234 (GRCm39) missense probably benign 0.02
Abscond UTSW 12 110,510,511 (GRCm39) missense probably benign 0.02
Cranraisin UTSW 12 110,510,579 (GRCm39) missense probably damaging 1.00
elope UTSW 12 110,527,906 (GRCm39) splice site probably benign
FR4976:Ppp2r5c UTSW 12 110,507,172 (GRCm39) splice site probably null
R0020:Ppp2r5c UTSW 12 110,541,257 (GRCm39) nonsense probably null
R0069:Ppp2r5c UTSW 12 110,534,204 (GRCm39) missense probably benign 0.01
R0069:Ppp2r5c UTSW 12 110,534,204 (GRCm39) missense probably benign 0.01
R0456:Ppp2r5c UTSW 12 110,489,013 (GRCm39) missense probably damaging 0.99
R1521:Ppp2r5c UTSW 12 110,521,320 (GRCm39) missense probably damaging 1.00
R1697:Ppp2r5c UTSW 12 110,527,906 (GRCm39) splice site probably benign
R1697:Ppp2r5c UTSW 12 110,512,057 (GRCm39) nonsense probably null
R2248:Ppp2r5c UTSW 12 110,452,357 (GRCm39) missense probably benign 0.00
R3817:Ppp2r5c UTSW 12 110,510,621 (GRCm39) critical splice donor site probably null
R4491:Ppp2r5c UTSW 12 110,546,956 (GRCm39) missense possibly damaging 0.69
R5575:Ppp2r5c UTSW 12 110,519,266 (GRCm39) missense probably damaging 1.00
R5828:Ppp2r5c UTSW 12 110,537,134 (GRCm39) missense probably benign 0.01
R6059:Ppp2r5c UTSW 12 110,541,222 (GRCm39) missense probably benign
R6351:Ppp2r5c UTSW 12 110,521,313 (GRCm39) missense probably damaging 1.00
R6807:Ppp2r5c UTSW 12 110,535,456 (GRCm39) missense possibly damaging 0.80
R6976:Ppp2r5c UTSW 12 110,510,579 (GRCm39) missense probably damaging 1.00
R7236:Ppp2r5c UTSW 12 110,432,323 (GRCm39) missense probably benign 0.01
R7360:Ppp2r5c UTSW 12 110,541,272 (GRCm39) missense probably benign
R7363:Ppp2r5c UTSW 12 110,489,041 (GRCm39) missense probably benign 0.01
R7467:Ppp2r5c UTSW 12 110,519,317 (GRCm39) missense probably damaging 1.00
R7948:Ppp2r5c UTSW 12 110,432,420 (GRCm39) missense probably benign
R8117:Ppp2r5c UTSW 12 110,517,519 (GRCm39) missense possibly damaging 0.47
R8310:Ppp2r5c UTSW 12 110,512,259 (GRCm39) missense possibly damaging 0.95
R8352:Ppp2r5c UTSW 12 110,510,511 (GRCm39) missense probably benign 0.02
R8452:Ppp2r5c UTSW 12 110,510,511 (GRCm39) missense probably benign 0.02
R8692:Ppp2r5c UTSW 12 110,489,032 (GRCm39) missense probably benign 0.00
R8858:Ppp2r5c UTSW 12 110,519,329 (GRCm39) critical splice donor site probably null
R9108:Ppp2r5c UTSW 12 110,521,303 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07