Incidental Mutation 'IGL02332:Ppp2r3a'
ID288751
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp2r3a
Ensembl Gene ENSMUSG00000043154
Gene Nameprotein phosphatase 2, regulatory subunit B'', alpha
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02332
Quality Score
Status
Chromosome9
Chromosomal Location101105084-101251795 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 101180403 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 180 (F180L)
Ref Sequence ENSEMBL: ENSMUSP00000069688 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066773] [ENSMUST00000075941]
Predicted Effect possibly damaging
Transcript: ENSMUST00000066773
AA Change: F180L

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000069688
Gene: ENSMUSG00000043154
AA Change: F180L

DomainStartEndE-ValueType
Blast:EFh 140 169 1e-9 BLAST
Pfam:EF-hand_7 282 380 2.6e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000075941
AA Change: F800L

PolyPhen 2 Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000075327
Gene: ENSMUSG00000043154
AA Change: F800L

DomainStartEndE-ValueType
low complexity region 248 266 N/A INTRINSIC
Blast:EFh 760 789 1e-9 BLAST
Pfam:EF-hand_7 902 1000 2.5e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188612
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 one of the regulatory subunits of the protein phosphatase 2. Protein phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B'' family. The B'' family has been further divided into subfamilies. The product of this gene belongs to the alpha subfamily of regulatory subunit B''. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Jun 2010]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B24Rik A G 3: 48,608,888 noncoding transcript Het
Abca13 A T 11: 9,291,482 Y1115F probably damaging Het
Adam29 T A 8: 55,871,740 I560F probably damaging Het
Bivm T C 1: 44,128,720 probably benign Het
Brinp1 C A 4: 68,904,884 R24L probably benign Het
Cnga1 A G 5: 72,604,486 Y562H probably damaging Het
Cr2 C A 1: 195,160,322 Q256H probably benign Het
Dhcr7 A T 7: 143,843,128 N119I probably damaging Het
Dio1 A T 4: 107,293,781 Y169N probably damaging Het
Dmbt1 C T 7: 131,066,613 probably benign Het
Eogt T G 6: 97,125,605 H249P probably damaging Het
Ermard A C 17: 14,990,545 probably null Het
Exoc4 T C 6: 33,249,240 probably null Het
Fxr2 G T 11: 69,649,838 probably null Het
Glyr1 G T 16: 5,018,953 T443N probably damaging Het
Gm14137 T G 2: 119,175,326 L122R probably damaging Het
Gm4845 C A 1: 141,256,597 noncoding transcript Het
Gm8258 A G 5: 104,775,902 noncoding transcript Het
Gmps G A 3: 63,990,569 R258H probably benign Het
Itga6 T G 2: 71,838,373 L552R possibly damaging Het
Itgam T A 7: 128,085,674 probably null Het
Itgb5 G T 16: 33,920,130 E224* probably null Het
Itih4 C A 14: 30,887,860 A49D probably damaging Het
Itpr2 A T 6: 146,426,542 N64K probably damaging Het
Moap1 T C 12: 102,742,807 Y161C probably benign Het
Mst1r G T 9: 107,907,826 G228* probably null Het
Myo1g T C 11: 6,520,766 D30G possibly damaging Het
Ndn T A 7: 62,348,825 C140S probably damaging Het
Nek5 G T 8: 22,095,261 Q367K probably benign Het
Nrd1 A T 4: 109,000,988 R52S probably damaging Het
Nup133 A T 8: 123,907,832 L1007Q probably damaging Het
Olfr1105 T C 2: 87,034,212 D3G probably benign Het
Olfr633 T C 7: 103,946,920 M118T probably damaging Het
Olfr74 A T 2: 87,974,065 L200Q probably damaging Het
P2rx2 T C 5: 110,341,805 S116G probably benign Het
Pcdhb13 G A 18: 37,443,582 V338M probably benign Het
Pdcl2 A T 5: 76,319,135 Y70* probably null Het
Ppm1e T C 11: 87,231,742 H463R probably benign Het
Ppm1f T A 16: 16,914,087 C134S possibly damaging Het
Pxn A G 5: 115,544,926 S96G probably benign Het
Rasa4 G T 5: 136,095,599 Q167H probably benign Het
Rfx8 T C 1: 39,718,480 I43V possibly damaging Het
Sez6 C T 11: 77,954,742 probably benign Het
Slc39a6 A T 18: 24,589,823 D473E probably benign Het
Spocd1 A G 4: 129,949,092 D68G probably damaging Het
Syt13 T C 2: 92,940,804 F79L probably benign Het
Tas2r103 A T 6: 133,036,512 M197K probably benign Het
Tbrg4 A G 11: 6,618,492 V429A probably damaging Het
Tuft1 A C 3: 94,615,768 probably null Het
Uqcrc1 A G 9: 108,947,869 T80A probably damaging Het
Vps18 A G 2: 119,293,810 N406S probably benign Het
Xrn2 T A 2: 147,026,590 W188R probably damaging Het
Zzef1 T G 11: 72,916,509 S2738A probably benign Het
Other mutations in Ppp2r3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00792:Ppp2r3a APN 9 101211301 missense possibly damaging 0.50
IGL01122:Ppp2r3a APN 9 101211645 missense probably benign 0.30
IGL02653:Ppp2r3a APN 9 101211693 missense probably benign 0.13
IGL03329:Ppp2r3a APN 9 101126431 splice site probably benign
IGL03351:Ppp2r3a APN 9 101211192 missense probably benign 0.00
lank UTSW 9 101198630 critical splice donor site probably null
PIT4480001:Ppp2r3a UTSW 9 101126377 missense possibly damaging 0.95
PIT4687001:Ppp2r3a UTSW 9 101144380 missense probably benign 0.00
R0243:Ppp2r3a UTSW 9 101212284 missense probably damaging 1.00
R1004:Ppp2r3a UTSW 9 101198630 critical splice donor site probably null
R1086:Ppp2r3a UTSW 9 101153822 missense possibly damaging 0.67
R1215:Ppp2r3a UTSW 9 101212684 missense probably benign 0.02
R1245:Ppp2r3a UTSW 9 101194394 missense probably damaging 0.99
R1458:Ppp2r3a UTSW 9 101211312 missense probably damaging 1.00
R1682:Ppp2r3a UTSW 9 101212306 missense probably benign 0.00
R1857:Ppp2r3a UTSW 9 101212893 missense probably damaging 0.96
R1972:Ppp2r3a UTSW 9 101211777 missense probably benign 0.00
R2029:Ppp2r3a UTSW 9 101145481 missense probably damaging 1.00
R2076:Ppp2r3a UTSW 9 101144371 missense possibly damaging 0.83
R2135:Ppp2r3a UTSW 9 101211558 missense probably damaging 0.99
R2180:Ppp2r3a UTSW 9 101127015 nonsense probably null
R3155:Ppp2r3a UTSW 9 101212360 missense possibly damaging 0.56
R4797:Ppp2r3a UTSW 9 101211980 missense probably benign 0.01
R4829:Ppp2r3a UTSW 9 101212510 missense possibly damaging 0.67
R5269:Ppp2r3a UTSW 9 101153865 missense probably damaging 0.98
R5917:Ppp2r3a UTSW 9 101211984 missense probably benign 0.10
R5939:Ppp2r3a UTSW 9 101212625 missense probably benign 0.37
R6089:Ppp2r3a UTSW 9 101211636 missense probably benign 0.00
R6254:Ppp2r3a UTSW 9 101148587 missense possibly damaging 0.75
R6574:Ppp2r3a UTSW 9 101194385 missense probably benign 0.03
R6776:Ppp2r3a UTSW 9 101212862 missense probably benign 0.00
R6927:Ppp2r3a UTSW 9 101175348 missense probably damaging 1.00
R7189:Ppp2r3a UTSW 9 101126422 missense possibly damaging 0.59
R7190:Ppp2r3a UTSW 9 101212527 missense probably benign 0.11
R7288:Ppp2r3a UTSW 9 101127004 missense probably damaging 0.98
R7292:Ppp2r3a UTSW 9 101212672 missense probably damaging 0.96
R7512:Ppp2r3a UTSW 9 101175333 missense possibly damaging 0.69
X0020:Ppp2r3a UTSW 9 101212039 missense probably benign 0.19
Posted On2015-04-16