Incidental Mutation 'R6550:Pp2d1'
ID 521552
Institutional Source Beutler Lab
Gene Symbol Pp2d1
Ensembl Gene ENSMUSG00000044957
Gene Name protein phosphatase 2C-like domain containing 1
Synonyms 4921523A10Rik
MMRRC Submission 044675-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R6550 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 53814488-53846479 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53822604 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 154 (D154G)
Ref Sequence ENSEMBL: ENSMUSP00000056682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056198]
AlphaFold Q8BVT6
Predicted Effect probably damaging
Transcript: ENSMUST00000056198
AA Change: D154G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000056682
Gene: ENSMUSG00000044957
AA Change: D154G

DomainStartEndE-ValueType
PP2Cc 173 609 4.04e-18 SMART
Meta Mutation Damage Score 0.5330 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 98% (39/40)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apbb1ip A G 2: 22,748,245 (GRCm39) D355G probably damaging Het
Asz1 T C 6: 18,051,380 (GRCm39) D433G probably damaging Het
Atl3 A G 19: 7,499,503 (GRCm39) T256A probably benign Het
Atp8b4 T A 2: 126,266,113 (GRCm39) T183S probably damaging Het
Bahcc1 C T 11: 120,167,477 (GRCm39) H1293Y possibly damaging Het
Bin2 A G 15: 100,543,358 (GRCm39) V243A probably benign Het
Camta1 A C 4: 151,222,832 (GRCm39) F908L probably damaging Het
Cbx2 T C 11: 118,919,851 (GRCm39) V472A possibly damaging Het
Cd22 T C 7: 30,576,977 (GRCm39) D110G probably benign Het
Cfap69 A T 5: 5,631,220 (GRCm39) D764E probably benign Het
Col2a1 A G 15: 97,874,674 (GRCm39) I1321T unknown Het
Cyp2c67 G T 19: 39,605,854 (GRCm39) Y347* probably null Het
D630044L22Rik A T 17: 26,180,628 (GRCm39) R66S possibly damaging Het
Defa27 A C 8: 21,806,340 (GRCm39) R46S possibly damaging Het
E330034G19Rik A G 14: 24,346,886 (GRCm39) M58V probably benign Het
Efhb G T 17: 53,728,968 (GRCm39) H574N probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Erlin1 A T 19: 44,025,602 (GRCm39) probably null Het
Gm10912 C T 2: 103,896,996 (GRCm39) T45I possibly damaging Het
Hsh2d C A 8: 72,952,297 (GRCm39) T156K probably benign Het
Lrrc49 G T 9: 60,584,430 (GRCm39) Q139K probably benign Het
Map3k21 A G 8: 126,664,031 (GRCm39) S531G probably damaging Het
Mcm2 A G 6: 88,863,941 (GRCm39) probably null Het
Mtarc2 C A 1: 184,551,539 (GRCm39) R299L probably damaging Het
Myo9a T C 9: 59,775,482 (GRCm39) F1031S probably damaging Het
Or1o1 G A 17: 37,716,796 (GRCm39) R119H probably benign Het
Or2n1d C T 17: 38,646,896 (GRCm39) P283S possibly damaging Het
Pmfbp1 T C 8: 110,246,839 (GRCm39) V237A possibly damaging Het
Polrmt C A 10: 79,575,514 (GRCm39) Q672H probably damaging Het
Rars1 T C 11: 35,724,010 (GRCm39) I57V probably benign Het
Selplg G A 5: 113,958,210 (GRCm39) P32L probably benign Het
Slc8b1 A G 5: 120,662,082 (GRCm39) E257G probably damaging Het
Spata31e3 G A 13: 50,399,482 (GRCm39) P948L probably benign Het
Tasor2 A G 13: 3,640,519 (GRCm39) V206A possibly damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tmem87b T A 2: 128,666,385 (GRCm39) H77Q possibly damaging Het
Tpr C T 1: 150,299,728 (GRCm39) L1200F probably damaging Het
Trir G T 8: 85,756,549 (GRCm39) V154L probably damaging Het
Wdfy3 A G 5: 102,101,032 (GRCm39) V195A probably benign Het
Zdhhc5 T C 2: 84,526,685 (GRCm39) I96V probably benign Het
Other mutations in Pp2d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00949:Pp2d1 APN 17 53,822,667 (GRCm39) missense probably benign 0.00
IGL01939:Pp2d1 APN 17 53,822,167 (GRCm39) missense probably damaging 1.00
IGL02031:Pp2d1 APN 17 53,815,468 (GRCm39) missense probably damaging 1.00
IGL02039:Pp2d1 APN 17 53,823,022 (GRCm39) nonsense probably null
IGL02108:Pp2d1 APN 17 53,822,433 (GRCm39) missense probably damaging 1.00
IGL02121:Pp2d1 APN 17 53,814,949 (GRCm39) missense probably damaging 1.00
IGL03034:Pp2d1 APN 17 53,815,081 (GRCm39) missense possibly damaging 0.88
R0483:Pp2d1 UTSW 17 53,814,999 (GRCm39) missense probably benign 0.29
R0562:Pp2d1 UTSW 17 53,846,196 (GRCm39) splice site probably benign
R1416:Pp2d1 UTSW 17 53,822,835 (GRCm39) missense probably benign 0.07
R1464:Pp2d1 UTSW 17 53,823,015 (GRCm39) missense possibly damaging 0.94
R1464:Pp2d1 UTSW 17 53,823,015 (GRCm39) missense possibly damaging 0.94
R1479:Pp2d1 UTSW 17 53,814,883 (GRCm39) missense probably benign 0.05
R1659:Pp2d1 UTSW 17 53,822,406 (GRCm39) missense possibly damaging 0.50
R1711:Pp2d1 UTSW 17 53,822,338 (GRCm39) missense possibly damaging 0.47
R2214:Pp2d1 UTSW 17 53,822,424 (GRCm39) missense probably benign 0.01
R2217:Pp2d1 UTSW 17 53,822,482 (GRCm39) missense probably benign 0.02
R2218:Pp2d1 UTSW 17 53,822,482 (GRCm39) missense probably benign 0.02
R4463:Pp2d1 UTSW 17 53,822,886 (GRCm39) missense probably benign
R4644:Pp2d1 UTSW 17 53,823,015 (GRCm39) missense probably benign 0.00
R4901:Pp2d1 UTSW 17 53,822,037 (GRCm39) missense probably benign 0.20
R5164:Pp2d1 UTSW 17 53,815,098 (GRCm39) missense probably benign 0.11
R5169:Pp2d1 UTSW 17 53,814,930 (GRCm39) missense possibly damaging 0.78
R5186:Pp2d1 UTSW 17 53,815,168 (GRCm39) missense probably benign
R5223:Pp2d1 UTSW 17 53,814,873 (GRCm39) missense probably benign 0.12
R6918:Pp2d1 UTSW 17 53,822,487 (GRCm39) missense probably damaging 0.99
R7263:Pp2d1 UTSW 17 53,822,358 (GRCm39) missense probably benign 0.00
R7623:Pp2d1 UTSW 17 53,822,907 (GRCm39) missense probably benign 0.00
R7712:Pp2d1 UTSW 17 53,815,318 (GRCm39) missense possibly damaging 0.63
R8062:Pp2d1 UTSW 17 53,822,798 (GRCm39) missense probably benign 0.01
R8165:Pp2d1 UTSW 17 53,822,257 (GRCm39) missense probably damaging 1.00
R8694:Pp2d1 UTSW 17 53,815,191 (GRCm39) missense probably benign 0.01
R8815:Pp2d1 UTSW 17 53,814,897 (GRCm39) missense probably benign 0.41
R9704:Pp2d1 UTSW 17 53,822,907 (GRCm39) missense probably benign 0.00
X0019:Pp2d1 UTSW 17 53,822,575 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- CTTTGATGCCAGGTCTGCTG -3'
(R):5'- CACAATGCTCTGAGTATGCTG -3'

Sequencing Primer
(F):5'- TGCTGCATAACCGTAATGGC -3'
(R):5'- CAATGCTCTGAGTATGCTGGGTTTC -3'
Posted On 2018-06-06