Incidental Mutation 'IGL02332:Ppp2r3d'
ID 288751
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp2r3d
Ensembl Gene ENSMUSG00000093803
Gene Name protein phosphatase 2 (formerly 2A), regulatory subunit B'', delta
Synonyms Ppp2r3, PR59, Ppp2r3a
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.361) question?
Stock # IGL02332
Quality Score
Status
Chromosome 9
Chromosomal Location 124195827-124204759 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101057602 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B24Rik A G 3: 48,563,323 (GRCm39) noncoding transcript Het
Abca13 A T 11: 9,241,482 (GRCm39) Y1115F probably damaging Het
Adam29 T A 8: 56,324,775 (GRCm39) I560F probably damaging Het
Bivm T C 1: 44,167,880 (GRCm39) probably benign Het
Brinp1 C A 4: 68,823,121 (GRCm39) R24L probably benign Het
Cnga1 A G 5: 72,761,829 (GRCm39) Y562H probably damaging Het
Cr2 C A 1: 194,842,630 (GRCm39) Q256H probably benign Het
Dhcr7 A T 7: 143,396,865 (GRCm39) N119I probably damaging Het
Dio1 A T 4: 107,150,978 (GRCm39) Y169N probably damaging Het
Dmbt1 C T 7: 130,668,343 (GRCm39) probably benign Het
Eogt T G 6: 97,102,566 (GRCm39) H249P probably damaging Het
Ermard A C 17: 15,210,807 (GRCm39) probably null Het
Exoc4 T C 6: 33,226,175 (GRCm39) probably null Het
Fxr2 G T 11: 69,540,664 (GRCm39) probably null Het
Glyr1 G T 16: 4,836,817 (GRCm39) T443N probably damaging Het
Gm14137 T G 2: 119,005,807 (GRCm39) L122R probably damaging Het
Gm4845 C A 1: 141,184,335 (GRCm39) noncoding transcript Het
Gm8258 A G 5: 104,923,768 (GRCm39) noncoding transcript Het
Gmps G A 3: 63,897,990 (GRCm39) R258H probably benign Het
Itga6 T G 2: 71,668,717 (GRCm39) L552R possibly damaging Het
Itgam T A 7: 127,684,846 (GRCm39) probably null Het
Itgb5 G T 16: 33,740,500 (GRCm39) E224* probably null Het
Itih4 C A 14: 30,609,817 (GRCm39) A49D probably damaging Het
Itpr2 A T 6: 146,328,040 (GRCm39) N64K probably damaging Het
Moap1 T C 12: 102,709,066 (GRCm39) Y161C probably benign Het
Mst1r G T 9: 107,785,025 (GRCm39) G228* probably null Het
Myo1g T C 11: 6,470,766 (GRCm39) D30G possibly damaging Het
Ndn T A 7: 61,998,573 (GRCm39) C140S probably damaging Het
Nek5 G T 8: 22,585,277 (GRCm39) Q367K probably benign Het
Nrdc A T 4: 108,858,185 (GRCm39) R52S probably damaging Het
Nup133 A T 8: 124,634,571 (GRCm39) L1007Q probably damaging Het
Or51k2 T C 7: 103,596,127 (GRCm39) M118T probably damaging Het
Or5be3 T C 2: 86,864,556 (GRCm39) D3G probably benign Het
Or5d47 A T 2: 87,804,409 (GRCm39) L200Q probably damaging Het
P2rx2 T C 5: 110,489,671 (GRCm39) S116G probably benign Het
Pcdhb13 G A 18: 37,576,635 (GRCm39) V338M probably benign Het
Pdcl2 A T 5: 76,466,982 (GRCm39) Y70* probably null Het
Ppm1e T C 11: 87,122,568 (GRCm39) H463R probably benign Het
Ppm1f T A 16: 16,731,951 (GRCm39) C134S possibly damaging Het
Pxn A G 5: 115,682,985 (GRCm39) S96G probably benign Het
Rasa4 G T 5: 136,124,453 (GRCm39) Q167H probably benign Het
Rfx8 T C 1: 39,757,640 (GRCm39) I43V possibly damaging Het
Sez6 C T 11: 77,845,568 (GRCm39) probably benign Het
Slc39a6 A T 18: 24,722,880 (GRCm39) D473E probably benign Het
Spocd1 A G 4: 129,842,885 (GRCm39) D68G probably damaging Het
Syt13 T C 2: 92,771,149 (GRCm39) F79L probably benign Het
Tas2r103 A T 6: 133,013,475 (GRCm39) M197K probably benign Het
Tbrg4 A G 11: 6,568,492 (GRCm39) V429A probably damaging Het
Tuft1 A C 3: 94,523,075 (GRCm39) probably null Het
Uqcrc1 A G 9: 108,776,937 (GRCm39) T80A probably damaging Het
Vps18 A G 2: 119,124,291 (GRCm39) N406S probably benign Het
Xrn2 T A 2: 146,868,510 (GRCm39) W188R probably damaging Het
Zzef1 T G 11: 72,807,335 (GRCm39) S2738A probably benign Het
Other mutations in Ppp2r3d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00792:Ppp2r3d APN 9 101,088,500 (GRCm39) missense possibly damaging 0.50
IGL01122:Ppp2r3d APN 9 101,088,844 (GRCm39) missense probably benign 0.30
IGL02653:Ppp2r3d APN 9 101,088,892 (GRCm39) missense probably benign 0.13
IGL03329:Ppp2r3d APN 9 101,003,630 (GRCm39) splice site probably benign
IGL03351:Ppp2r3d APN 9 101,088,391 (GRCm39) missense probably benign 0.00
lank UTSW 9 101,075,829 (GRCm39) critical splice donor site probably null
PIT4480001:Ppp2r3d UTSW 9 101,003,576 (GRCm39) missense possibly damaging 0.95
PIT4687001:Ppp2r3d UTSW 9 101,021,579 (GRCm39) missense probably benign 0.00
R0243:Ppp2r3d UTSW 9 101,089,483 (GRCm39) missense probably damaging 1.00
R1004:Ppp2r3d UTSW 9 101,075,829 (GRCm39) critical splice donor site probably null
R1086:Ppp2r3d UTSW 9 101,031,021 (GRCm39) missense possibly damaging 0.67
R1215:Ppp2r3d UTSW 9 101,089,883 (GRCm39) missense probably benign 0.02
R1245:Ppp2r3d UTSW 9 101,071,593 (GRCm39) missense probably damaging 0.99
R1458:Ppp2r3d UTSW 9 101,088,511 (GRCm39) missense probably damaging 1.00
R1682:Ppp2r3d UTSW 9 101,089,505 (GRCm39) missense probably benign 0.00
R1857:Ppp2r3d UTSW 9 101,090,092 (GRCm39) missense probably damaging 0.96
R1972:Ppp2r3d UTSW 9 101,088,976 (GRCm39) missense probably benign 0.00
R2029:Ppp2r3d UTSW 9 101,022,680 (GRCm39) missense probably damaging 1.00
R2076:Ppp2r3d UTSW 9 101,021,570 (GRCm39) missense possibly damaging 0.83
R2135:Ppp2r3d UTSW 9 101,088,757 (GRCm39) missense probably damaging 0.99
R2180:Ppp2r3d UTSW 9 101,004,214 (GRCm39) nonsense probably null
R3155:Ppp2r3d UTSW 9 101,089,559 (GRCm39) missense possibly damaging 0.56
R4190:Ppp2r3d UTSW 9 124,424,123 (GRCm38) unclassified probably benign
R4657:Ppp2r3d UTSW 9 124,476,821 (GRCm38) missense unknown
R4797:Ppp2r3d UTSW 9 101,089,179 (GRCm39) missense probably benign 0.01
R4829:Ppp2r3d UTSW 9 101,089,709 (GRCm39) missense possibly damaging 0.67
R5269:Ppp2r3d UTSW 9 101,031,064 (GRCm39) missense probably damaging 0.98
R5498:Ppp2r3d UTSW 9 124,439,123 (GRCm38) unclassified probably benign
R5820:Ppp2r3d UTSW 9 124,422,765 (GRCm38) missense possibly damaging 0.90
R5917:Ppp2r3d UTSW 9 101,089,183 (GRCm39) missense probably benign 0.10
R5939:Ppp2r3d UTSW 9 101,089,824 (GRCm39) missense probably benign 0.37
R6089:Ppp2r3d UTSW 9 101,088,835 (GRCm39) missense probably benign 0.00
R6254:Ppp2r3d UTSW 9 101,025,786 (GRCm39) missense possibly damaging 0.75
R6574:Ppp2r3d UTSW 9 101,071,584 (GRCm39) missense probably benign 0.03
R6776:Ppp2r3d UTSW 9 101,090,061 (GRCm39) missense probably benign 0.00
R6823:Ppp2r3d UTSW 9 124,439,078 (GRCm38) unclassified probably benign
R6927:Ppp2r3d UTSW 9 101,052,547 (GRCm39) missense probably damaging 1.00
R6986:Ppp2r3d UTSW 9 124,439,080 (GRCm38) nonsense probably null
R7162:Ppp2r3d UTSW 9 124,439,673 (GRCm38) missense
R7189:Ppp2r3d UTSW 9 101,003,621 (GRCm39) missense possibly damaging 0.59
R7190:Ppp2r3d UTSW 9 101,089,726 (GRCm39) missense probably benign 0.11
R7288:Ppp2r3d UTSW 9 101,004,203 (GRCm39) missense probably damaging 0.98
R7292:Ppp2r3d UTSW 9 101,089,871 (GRCm39) missense probably damaging 0.96
R7512:Ppp2r3d UTSW 9 101,052,532 (GRCm39) missense possibly damaging 0.69
R7655:Ppp2r3d UTSW 9 101,088,911 (GRCm39) missense probably benign 0.30
R7656:Ppp2r3d UTSW 9 101,088,911 (GRCm39) missense probably benign 0.30
R7661:Ppp2r3d UTSW 9 124,442,696 (GRCm38) missense
R7666:Ppp2r3d UTSW 9 124,440,873 (GRCm38) missense probably damaging 1.00
R7769:Ppp2r3d UTSW 9 124,439,087 (GRCm38) missense
R8174:Ppp2r3d UTSW 9 101,090,501 (GRCm39) start gained probably benign
R8195:Ppp2r3d UTSW 9 101,090,231 (GRCm39) missense probably damaging 1.00
R8236:Ppp2r3d UTSW 9 124,440,067 (GRCm38) missense
R8344:Ppp2r3d UTSW 9 101,088,985 (GRCm39) missense probably benign 0.03
R8505:Ppp2r3d UTSW 9 124,439,084 (GRCm38) missense
R8720:Ppp2r3d UTSW 9 101,089,084 (GRCm39) missense probably damaging 1.00
R8765:Ppp2r3d UTSW 9 124,439,649 (GRCm38) missense
R8775:Ppp2r3d UTSW 9 101,004,204 (GRCm39) missense probably benign 0.00
R8775-TAIL:Ppp2r3d UTSW 9 101,004,204 (GRCm39) missense probably benign 0.00
R8853:Ppp2r3d UTSW 9 101,090,110 (GRCm39) missense probably benign 0.05
R8958:Ppp2r3d UTSW 9 101,088,634 (GRCm39) missense probably benign
R9069:Ppp2r3d UTSW 9 101,090,006 (GRCm39) missense probably benign 0.02
R9210:Ppp2r3d UTSW 9 101,063,175 (GRCm39) missense probably benign 0.09
R9212:Ppp2r3d UTSW 9 101,063,175 (GRCm39) missense probably benign 0.09
R9300:Ppp2r3d UTSW 9 124,423,977 (GRCm38) missense unknown
R9404:Ppp2r3d UTSW 9 101,025,840 (GRCm39) missense probably damaging 1.00
R9465:Ppp2r3d UTSW 9 124,442,222 (GRCm38) missense
R9477:Ppp2r3d UTSW 9 124,476,857 (GRCm38) missense
R9538:Ppp2r3d UTSW 9 124,424,007 (GRCm38) missense unknown
R9545:Ppp2r3d UTSW 9 101,089,214 (GRCm39) missense probably benign
R9639:Ppp2r3d UTSW 9 101,022,713 (GRCm39) missense probably benign
R9649:Ppp2r3d UTSW 9 124,440,831 (GRCm38) missense
X0020:Ppp2r3d UTSW 9 101,089,238 (GRCm39) missense probably benign 0.19
Z1176:Ppp2r3d UTSW 9 101,003,588 (GRCm39) missense possibly damaging 0.67
Z1177:Ppp2r3d UTSW 9 124,476,815 (GRCm38) missense unknown
Z1177:Ppp2r3d UTSW 9 124,422,692 (GRCm38) missense probably benign 0.03
Posted On 2015-04-16