Incidental Mutation 'R2217:Pp2d1'
ID 241235
Institutional Source Beutler Lab
Gene Symbol Pp2d1
Ensembl Gene ENSMUSG00000044957
Gene Name protein phosphatase 2C-like domain containing 1
Synonyms 4921523A10Rik
MMRRC Submission 040219-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R2217 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 53814488-53846479 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 53822482 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 195 (V195L)
Ref Sequence ENSEMBL: ENSMUSP00000056682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056198]
AlphaFold Q8BVT6
Predicted Effect probably benign
Transcript: ENSMUST00000056198
AA Change: V195L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000056682
Gene: ENSMUSG00000044957
AA Change: V195L

DomainStartEndE-ValueType
PP2Cc 173 609 4.04e-18 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 T C 8: 112,709,128 (GRCm39) K232E probably benign Het
Apba1 T C 19: 23,871,326 (GRCm39) M386T probably damaging Het
Appl2 G T 10: 83,444,601 (GRCm39) F472L possibly damaging Het
Atxn2 T C 5: 121,941,140 (GRCm39) Y56H probably damaging Het
Cacna1c T C 6: 118,647,368 (GRCm39) Y809C probably damaging Het
Canx C T 11: 50,201,694 (GRCm39) V59I probably benign Het
Catsperb T C 12: 101,560,478 (GRCm39) L823P probably damaging Het
Crb3 T C 17: 57,372,090 (GRCm39) S46P probably benign Het
Daam1 G A 12: 72,036,601 (GRCm39) R1058H probably damaging Het
Ehd1 T A 19: 6,348,502 (GRCm39) D493E probably damaging Het
Eml6 T A 11: 29,768,907 (GRCm39) Q746L probably damaging Het
Epg5 T A 18: 77,992,287 (GRCm39) M328K probably benign Het
Flt4 T A 11: 49,515,555 (GRCm39) S48T probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gm7535 A G 17: 18,131,936 (GRCm39) probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Hmcn2 A T 2: 31,240,586 (GRCm39) T494S probably benign Het
Hydin G A 8: 111,145,138 (GRCm39) V830I probably benign Het
Map3k6 T A 4: 132,973,983 (GRCm39) H487Q possibly damaging Het
Myh14 G A 7: 44,283,800 (GRCm39) P735S probably damaging Het
Nfkb2 T C 19: 46,296,163 (GRCm39) probably null Het
Nlrp4c T C 7: 6,076,113 (GRCm39) V671A probably benign Het
Nsrp1 A T 11: 76,936,587 (GRCm39) Y536* probably null Het
Or4c112 G T 2: 88,853,770 (GRCm39) H192Q probably benign Het
Pak5 A G 2: 135,958,123 (GRCm39) S322P probably damaging Het
Pank2 A G 2: 131,124,601 (GRCm39) probably null Het
Phf6 A T X: 52,031,525 (GRCm39) I272F probably damaging Het
Plxna2 T C 1: 194,480,056 (GRCm39) L1409P probably damaging Het
Polr2a A G 11: 69,633,511 (GRCm39) probably null Het
Psma1 C T 7: 113,864,173 (GRCm39) E227K unknown Het
Ptger1 C T 8: 84,395,357 (GRCm39) T278I probably benign Het
Slc20a2 C A 8: 23,050,532 (GRCm39) S250R probably benign Het
Slc27a2 A G 2: 126,409,672 (GRCm39) T285A probably damaging Het
Slc47a2 T C 11: 61,204,497 (GRCm39) T285A probably benign Het
Slf1 T A 13: 77,194,825 (GRCm39) probably null Het
Tiam2 A G 17: 3,465,389 (GRCm39) T373A probably benign Het
Timd2 T A 11: 46,577,844 (GRCm39) I96L probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tmem64 T C 4: 15,266,658 (GRCm39) I236T possibly damaging Het
Trpm2 T A 10: 77,777,016 (GRCm39) D427V probably damaging Het
Vax2 A T 6: 83,714,871 (GRCm39) Y262F probably damaging Het
Virma T C 4: 11,544,924 (GRCm39) S1628P probably damaging Het
Zan C A 5: 137,408,568 (GRCm39) probably benign Het
Zbtb22 T G 17: 34,136,939 (GRCm39) D361E probably damaging Het
Zfp27 A G 7: 29,595,536 (GRCm39) L143P possibly damaging 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
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
R6550:Pp2d1 UTSW 17 53,822,604 (GRCm39) missense probably damaging 0.98
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'- GAGTTGCTTCTGCTCAGCTG -3'
(R):5'- CTGGTCAGTCTTCATAGAGAGTG -3'

Sequencing Primer
(F):5'- CAGCTGTCATTTGGTAGGAAGGATC -3'
(R):5'- TGTGAACTACGCATTTGAGTTTC -3'
Posted On 2014-10-15