Incidental Mutation 'IGL01946:Ppp1r3g'
ID180949
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp1r3g
Ensembl Gene ENSMUSG00000050423
Gene Nameprotein phosphatase 1, regulatory (inhibitor) subunit 3G
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.178) question?
Stock #IGL01946
Quality Score
Status
Chromosome13
Chromosomal Location35958839-35970388 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 35968995 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 133 (A133T)
Ref Sequence ENSEMBL: ENSMUSP00000153702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000132661] [ENSMUST00000225537]
Predicted Effect possibly damaging
Transcript: ENSMUST00000132661
AA Change: A133T

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122712
Gene: ENSMUSG00000050423
AA Change: A133T

DomainStartEndE-ValueType
low complexity region 88 102 N/A INTRINSIC
Pfam:CBM_21 202 339 9.2e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172766
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223592
Predicted Effect possibly damaging
Transcript: ENSMUST00000225537
AA Change: A133T

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,570,479 E343K possibly damaging Het
Abcc9 T C 6: 142,626,037 I1087V probably benign Het
Bcam A C 7: 19,760,117 Y416* probably null Het
Bhlhe22 T A 3: 18,055,796 C337S probably damaging Het
Cerkl T C 2: 79,393,020 D119G probably benign Het
Cog6 T C 3: 53,002,404 probably benign Het
Dchs1 T C 7: 105,759,105 D1840G probably damaging Het
Dhx16 G T 17: 35,885,504 M521I probably benign Het
Dnaja2 A G 8: 85,546,700 I196T probably damaging Het
Fbxw7 T C 3: 84,904,062 Y165H possibly damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm3371 A G 14: 44,408,721 Y96H probably damaging Het
Gm884 T A 11: 103,612,933 R560S probably benign Het
H2-T10 G A 17: 36,120,716 A82V possibly damaging Het
Hydin A G 8: 110,490,718 T1413A possibly damaging Het
Krt23 T A 11: 99,492,839 M76L possibly damaging Het
Lipe A T 7: 25,383,276 M504K possibly damaging Het
Lta4h T A 10: 93,471,370 probably benign Het
Ltbp2 T C 12: 84,830,748 T348A probably damaging Het
Mybpc2 C A 7: 44,509,898 probably benign Het
Olfr550 T C 7: 102,578,527 probably null Het
Olfr582 T A 7: 103,042,150 S219T probably damaging Het
Pdp2 G A 8: 104,594,192 M224I probably benign Het
Pimreg C T 11: 72,044,978 probably benign Het
Pld1 A T 3: 28,124,617 S887C probably damaging Het
Prpf8 G A 11: 75,499,992 G1323D probably damaging Het
Rab3ip A G 10: 116,937,395 probably null Het
Rpain A G 11: 70,970,532 H9R possibly damaging Het
Scin T C 12: 40,060,491 probably benign Het
Serpinb6d A G 13: 33,671,386 T348A probably benign Het
Smad3 A G 9: 63,757,553 L42P probably damaging Het
Smr3a C T 5: 88,008,155 probably benign Het
Vmn2r13 G A 5: 109,174,219 T204I probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfhx3 A G 8: 108,933,929 N1272D probably damaging Het
Other mutations in Ppp1r3g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02890:Ppp1r3g APN 13 35969331 missense probably damaging 0.98
R0413:Ppp1r3g UTSW 13 35969348 missense probably damaging 1.00
R1065:Ppp1r3g UTSW 13 35969435 missense probably benign 0.07
R4497:Ppp1r3g UTSW 13 35969620 missense probably benign 0.15
R5677:Ppp1r3g UTSW 13 35969262 missense probably damaging 1.00
R6705:Ppp1r3g UTSW 13 35968897 missense probably benign 0.08
X0027:Ppp1r3g UTSW 13 35969223 missense probably damaging 1.00
Posted On2014-05-07