Incidental Mutation 'R4050:Ppp1r1a'
ID314134
Institutional Source Beutler Lab
Gene Symbol Ppp1r1a
Ensembl Gene ENSMUSG00000022490
Gene Nameprotein phosphatase 1, regulatory (inhibitor) subunit 1A
SynonymsI-1, inhibitor-1, protein phosphatase inhibitor-1, 0610038N18Rik
MMRRC Submission 040968-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4050 (G1)
Quality Score225
Status Validated
Chromosome15
Chromosomal Location103530279-103538003 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 103532454 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 92 (L92P)
Ref Sequence ENSEMBL: ENSMUSP00000023133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023132] [ENSMUST00000023133] [ENSMUST00000226468] [ENSMUST00000227955]
Predicted Effect probably benign
Transcript: ENSMUST00000023132
SMART Domains Protein: ENSMUSP00000023132
Gene: ENSMUSG00000022489

DomainStartEndE-ValueType
coiled coil region 38 60 N/A INTRINSIC
Pfam:PDEase_I_N 76 136 1.2e-33 PFAM
HDc 219 383 8.77e-5 SMART
Blast:HDc 394 443 1e-20 BLAST
low complexity region 467 478 N/A INTRINSIC
low complexity region 511 527 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000023133
AA Change: L92P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023133
Gene: ENSMUSG00000022490
AA Change: L92P

DomainStartEndE-ValueType
Pfam:DARPP-32 2 165 2.2e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226468
Predicted Effect probably benign
Transcript: ENSMUST00000227955
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228813
Meta Mutation Damage Score 0.4899 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 97% (58/60)
MGI Phenotype PHENOTYPE: Homozygous mutant mice show decreased long term poteniation, but normal performance in water maze tests. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik A G 4: 147,944,992 D473G probably damaging Het
9530053A07Rik T C 7: 28,152,985 V1311A possibly damaging Het
Abca1 T A 4: 53,044,144 Q1826L probably damaging Het
Apob G A 12: 8,015,390 V4087I probably benign Het
Atp10b G A 11: 43,259,536 A1354T probably benign Het
Baz1a A G 12: 54,929,619 V424A probably benign Het
Cdc20b G A 13: 113,064,285 D180N probably benign Het
Cep57l1 G T 10: 41,729,360 R130S probably damaging Het
Ddb1 A G 19: 10,627,807 D1053G probably benign Het
Ddx39 T A 8: 83,722,234 M246K probably benign Het
Dip2a G A 10: 76,278,607 T1013M probably damaging Het
Edar G T 10: 58,609,947 T265N possibly damaging Het
Fam207a T C 10: 77,514,330 R75G possibly damaging Het
Fam208b A G 13: 3,573,507 S2148P probably benign Het
Gbp8 T A 5: 105,031,238 I132F probably damaging Het
Gga1 A G 15: 78,891,491 D382G probably benign Het
Ggps1 T C 13: 14,053,699 K300E probably benign Het
Gm10518 C A 1: 179,803,813 probably benign Het
Gm13078 T C 4: 143,727,122 S267P probably benign Het
Gm8074 G A 9: 78,322,336 noncoding transcript Het
H2-Eb1 T A 17: 34,314,368 L188Q probably damaging Het
Heatr6 A G 11: 83,755,773 S95G probably damaging Het
Hnf1a T A 5: 114,970,574 N91Y probably damaging Het
Ints10 C T 8: 68,827,351 S710F probably damaging Het
Kazn C T 4: 142,106,904 E614K unknown Het
Kif26a T A 12: 112,179,916 M1812K probably benign Het
Lmo7 A T 14: 101,902,277 K488* probably null Het
Mad1l1 A G 5: 140,132,816 S457P probably damaging Het
Met A G 6: 17,533,984 T645A probably benign Het
Mpp4 T C 1: 59,146,744 probably null Het
Mycl A T 4: 122,996,839 probably null Het
Ncbp1 G A 4: 46,147,483 R110H probably damaging Het
Nfasc G T 1: 132,610,305 probably benign Het
Nup35 A G 2: 80,655,976 I212V probably benign Het
Olfr1181 A G 2: 88,423,623 M134T probably damaging Het
Olfr1373 T G 11: 52,145,134 Y132S probably damaging Het
Ovgp1 A G 3: 105,986,596 probably benign Het
Ovgp1 T C 3: 105,986,567 probably benign Het
Pcgf5 G A 19: 36,442,911 S181N probably damaging Het
Plk2 C T 13: 110,399,866 T617I probably damaging Het
Polq A T 16: 37,092,820 probably null Het
Prg4 G C 1: 150,454,759 probably benign Het
Prune1 T C 3: 95,262,231 K220R possibly damaging Het
Rab3gap2 G A 1: 185,272,643 probably null Het
Rufy4 T C 1: 74,147,663 C537R probably damaging Het
Sall3 G A 18: 80,971,482 A1005V probably benign Het
Samd15 T G 12: 87,200,632 N30K probably benign Het
Scn8a A T 15: 101,013,413 K905* probably null Het
Scrib G A 15: 76,051,473 R1245W possibly damaging Het
Skint4 C T 4: 112,124,614 S260L probably benign Het
Slc29a2 A T 19: 5,029,453 M339L possibly damaging Het
Spire1 G T 18: 67,529,031 probably null Het
Synpo2 T C 3: 123,114,278 D463G possibly damaging Het
Taf4 C A 2: 179,932,012 G688C probably damaging Het
Tpte T A 8: 22,365,984 V600E probably damaging Het
Ttn A G 2: 76,821,166 V10953A probably benign Het
Vav2 T C 2: 27,288,679 Y333C probably benign Het
Vav2 A G 2: 27,291,403 S311P probably damaging Het
Zbtb26 A C 2: 37,436,988 M1R probably null Het
Zfp26 G A 9: 20,442,229 P88L probably benign Het
Zfp324 T C 7: 12,970,867 F328L probably damaging Het
Other mutations in Ppp1r1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0133:Ppp1r1a UTSW 15 103537820 missense probably damaging 0.97
R0359:Ppp1r1a UTSW 15 103533488 missense probably damaging 1.00
R0422:Ppp1r1a UTSW 15 103532356 missense probably benign 0.01
R0732:Ppp1r1a UTSW 15 103533087 missense possibly damaging 0.75
R1676:Ppp1r1a UTSW 15 103533488 missense probably damaging 1.00
R1711:Ppp1r1a UTSW 15 103533492 missense possibly damaging 0.61
R1941:Ppp1r1a UTSW 15 103533101 unclassified probably null
R2049:Ppp1r1a UTSW 15 103531406 missense probably damaging 0.98
R4049:Ppp1r1a UTSW 15 103532454 missense probably damaging 1.00
R4914:Ppp1r1a UTSW 15 103537838 missense probably damaging 0.99
R5221:Ppp1r1a UTSW 15 103533050 missense probably damaging 1.00
R6592:Ppp1r1a UTSW 15 103531372 missense probably damaging 0.96
R6920:Ppp1r1a UTSW 15 103533086 missense probably damaging 1.00
R7534:Ppp1r1a UTSW 15 103532389 missense probably benign 0.00
R7544:Ppp1r1a UTSW 15 103531349 splice site probably null
R8046:Ppp1r1a UTSW 15 103537878 start codon destroyed possibly damaging 0.79
X0028:Ppp1r1a UTSW 15 103531415 missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- AAGGCTGGGGAACTGCATTC -3'
(R):5'- GCCTTTGAAAAGACATTATGCTCC -3'

Sequencing Primer
(F):5'- CTGGGGAACTGCATTCTGTTAC -3'
(R):5'- GCAAATGTTCCTCCTAATTTAGAGCC -3'
Posted On2015-04-30