Incidental Mutation 'R1245:Ppp2r3d'
ID 152131
Institutional Source Beutler Lab
Gene Symbol Ppp2r3d
Ensembl Gene ENSMUSG00000093803
Gene Name protein phosphatase 2 (formerly 2A), regulatory subunit B'', delta
Synonyms Ppp2r3, PR59, Ppp2r3a
MMRRC Submission 039312-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.361) question?
Stock # R1245 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 124195827-124204759 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 101071593 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 675 (T675I)
Ref Sequence ENSEMBL: ENSMUSP00000075327 (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: T55I

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000069688
Gene: ENSMUSG00000043154
AA Change: T55I

DomainStartEndE-ValueType
Blast:EFh 140 169 1e-9 BLAST
Pfam:EF-hand_7 282 380 2.6e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000075941
AA Change: T675I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000075327
Gene: ENSMUSG00000043154
AA Change: T675I

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: ENSMUST00000185735
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185887
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188612
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193545
Meta Mutation Damage Score 0.2410 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.5%
Validation Efficiency 98% (41/42)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 T A 11: 7,119,410 (GRCm39) probably benign Het
Ahnak A G 19: 8,981,533 (GRCm39) N939S probably benign Het
Cblb C A 16: 51,867,550 (GRCm39) probably benign Het
Cd22 A G 7: 30,569,308 (GRCm39) S603P probably damaging Het
Col6a6 G A 9: 105,626,109 (GRCm39) R1515C possibly damaging Het
Csf1r C A 18: 61,247,884 (GRCm39) D317E probably benign Het
Dlg2 T C 7: 92,091,803 (GRCm39) probably benign Het
Enpp3 G A 10: 24,660,851 (GRCm39) probably benign Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Gm5828 A T 1: 16,839,353 (GRCm39) noncoding transcript Het
Gpr137c T C 14: 45,516,522 (GRCm39) probably benign Het
Ibtk A G 9: 85,602,795 (GRCm39) probably null Het
Kctd7 A G 5: 130,177,058 (GRCm39) H96R possibly damaging Het
Lmcd1 T A 6: 112,292,673 (GRCm39) V175E probably benign Het
Lrfn2 A T 17: 49,403,277 (GRCm39) probably null Het
Ltbp1 C T 17: 75,634,189 (GRCm39) probably benign Het
Myc A G 15: 61,859,746 (GRCm39) I140V probably damaging Het
Nckap1l A G 15: 103,364,352 (GRCm39) E100G probably damaging Het
Ncs1 A G 2: 31,174,705 (GRCm39) N143S probably benign Het
Nmnat2 A G 1: 152,987,949 (GRCm39) D238G probably benign Het
Or10ag57 T A 2: 87,218,553 (GRCm39) V168E probably benign Het
Psma2 A G 13: 14,787,876 (GRCm39) Y6C probably damaging Het
Rspo4 G A 2: 151,709,846 (GRCm39) E84K probably damaging Het
Shank2 G A 7: 143,965,457 (GRCm39) V1015I probably benign Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Smg8 T C 11: 86,974,436 (GRCm39) D632G possibly damaging Het
Sppl2a A T 2: 126,755,441 (GRCm39) probably benign Het
Svep1 A G 4: 58,066,427 (GRCm39) probably null Het
Ttn T A 2: 76,776,044 (GRCm39) K1666M probably damaging Het
Ulk1 A G 5: 110,937,206 (GRCm39) probably null Het
Unc80 A G 1: 66,594,254 (GRCm39) D1211G possibly damaging Het
Vmn2r112 A G 17: 22,822,228 (GRCm39) Q302R probably benign Het
Vmn2r6 A G 3: 64,464,211 (GRCm39) S208P possibly damaging Het
Wnk1 C T 6: 119,925,418 (GRCm39) V1847I probably benign Het
Zfp653 A T 9: 21,967,718 (GRCm39) I529N probably damaging Het
Zfp948 T C 17: 21,807,104 (GRCm39) S99P probably damaging Het
Zfyve9 A G 4: 108,550,508 (GRCm39) probably benign Het
Zscan29 T C 2: 120,996,984 (GRCm39) T246A probably damaging 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
IGL02332:Ppp2r3d APN 9 101,057,602 (GRCm39) missense possibly damaging 0.78
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
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
Predicted Primers PCR Primer
(F):5'- TGTGCTTAACGCCAGAGCAAAGAG -3'
(R):5'- GTGAACCCTTGATCGCTACTGTCTC -3'

Sequencing Primer
(F):5'- CCTTGAAAGCAGTTTCAATTCTG -3'
(R):5'- ATCGCTACTGTCTCTAGTTGAAG -3'
Posted On 2014-01-29