Incidental Mutation 'R4640:Ppp1r27'
ID 351620
Institutional Source Beutler Lab
Gene Symbol Ppp1r27
Ensembl Gene ENSMUSG00000025129
Gene Name protein phosphatase 1, regulatory subunit 27
Synonyms Dysfip1, toonin, 1110033I14Rik
MMRRC Submission 041902-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R4640 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 120440805-120441958 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120441553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 76 (N76D)
Ref Sequence ENSEMBL: ENSMUSP00000026121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026121] [ENSMUST00000034913]
AlphaFold Q9D119
Predicted Effect possibly damaging
Transcript: ENSMUST00000026121
AA Change: N76D

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000026121
Gene: ENSMUSG00000025129
AA Change: N76D

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
ANK 63 92 1.64e-5 SMART
ANK 96 125 3.1e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000034913
SMART Domains Protein: ENSMUSP00000034913
Gene: ENSMUSG00000061111

DomainStartEndE-ValueType
Pfam:FAM195 4 94 3.3e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135515
Meta Mutation Damage Score 0.1452 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 93% (39/42)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Adgrl4 T C 3: 151,205,947 (GRCm39) probably benign Het
Ano4 C T 10: 88,790,559 (GRCm39) A847T probably damaging Het
Atp11a A G 8: 12,878,434 (GRCm39) probably benign Het
Cct4 T A 11: 22,952,297 (GRCm39) S463T probably benign Het
Cfap251 G T 5: 123,440,495 (GRCm39) V1094L probably benign Het
Cnmd T C 14: 79,894,093 (GRCm39) N98S probably damaging Het
Copz2 A T 11: 96,747,533 (GRCm39) Q172L possibly damaging Het
Ctdp1 C A 18: 80,494,369 (GRCm39) probably null Het
Cyfip1 C T 7: 55,563,199 (GRCm39) T865I possibly damaging Het
Cyp2c37 A T 19: 40,000,276 (GRCm39) D466V possibly damaging Het
Dytn A G 1: 63,682,507 (GRCm39) L380P possibly damaging Het
Fam124b G A 1: 80,191,243 (GRCm39) R47C probably damaging Het
Foxe3 G A 4: 114,782,972 (GRCm39) A80V probably damaging Het
Gm5884 A G 6: 128,622,734 (GRCm39) noncoding transcript Het
Kera A T 10: 97,448,749 (GRCm39) Y323F probably damaging Het
Lipf A T 19: 33,946,197 (GRCm39) Y205F probably damaging Het
Lipo2 T C 19: 33,698,237 (GRCm39) E380G probably benign Het
Mcm2 A T 6: 88,864,786 (GRCm39) H563Q possibly damaging Het
Mindy3 T C 2: 12,352,974 (GRCm39) E409G probably benign Het
Mns1 A G 9: 72,346,564 (GRCm39) K16E probably benign Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Nlrp4g T C 9: 124,349,153 (GRCm38) noncoding transcript Het
Nrxn1 A G 17: 90,868,196 (GRCm39) S1105P probably damaging Het
Odf2l G A 3: 144,834,706 (GRCm39) R186H probably damaging Het
Or13g1 T A 7: 85,956,274 (GRCm39) T16S probably benign Het
Or2d3c T C 7: 106,525,800 (GRCm39) I289V possibly damaging Het
Phxr2 T C 10: 98,961,931 (GRCm39) probably benign Het
Plcxd3 T C 15: 4,546,725 (GRCm39) F243S probably damaging Het
Ptprz1 A G 6: 22,972,797 (GRCm39) T236A probably damaging Het
Pyroxd1 C G 6: 142,300,467 (GRCm39) S199* probably null Het
R3hdm1 T C 1: 128,102,975 (GRCm39) probably benign Het
Sall2 T A 14: 52,552,616 (GRCm39) Q193L probably damaging Het
Srpk1 T C 17: 28,827,698 (GRCm39) S39G probably benign Het
Tcaf3 A G 6: 42,564,513 (GRCm39) V883A probably damaging Het
Tmem104 T A 11: 115,134,550 (GRCm39) V362E probably damaging Het
Other mutations in Ppp1r27
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3546:Ppp1r27 UTSW 11 120,441,511 (GRCm39) missense probably damaging 0.99
R3547:Ppp1r27 UTSW 11 120,441,511 (GRCm39) missense probably damaging 0.99
R3917:Ppp1r27 UTSW 11 120,441,785 (GRCm39) missense possibly damaging 0.89
R5305:Ppp1r27 UTSW 11 120,441,743 (GRCm39) missense probably benign 0.41
R7574:Ppp1r27 UTSW 11 120,441,856 (GRCm39) nonsense probably null
R9004:Ppp1r27 UTSW 11 120,441,849 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGAATCCCTGAGTTGATGCCTAC -3'
(R):5'- AGCAGGTGGGACGCTTTATC -3'

Sequencing Primer
(F):5'- ACATCCTCAGAGCCATATTTTGGGG -3'
(R):5'- ACGCTTTATCCGGGCTCG -3'
Posted On 2015-10-08