Incidental Mutation 'R2858:Ppp1r1b'
ID 334567
Institutional Source Beutler Lab
Gene Symbol Ppp1r1b
Ensembl Gene ENSMUSG00000061718
Gene Name protein phosphatase 1, regulatory inhibitor subunit 1B
Synonyms Darpp32, DARPP-32
MMRRC Submission 040448-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.142) question?
Stock # R2858 (G1)
Quality Score 20
Status Validated
Chromosome 11
Chromosomal Location 98239232-98248622 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 98246145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018311] [ENSMUST00000078694] [ENSMUST00000137634] [ENSMUST00000150762]
AlphaFold Q60829
Predicted Effect probably benign
Transcript: ENSMUST00000018311
SMART Domains Protein: ENSMUSP00000018311
Gene: ENSMUSG00000018167

DomainStartEndE-ValueType
low complexity region 21 34 N/A INTRINSIC
Pfam:MENTAL 48 214 1.1e-65 PFAM
START 240 445 4.43e-67 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000078694
SMART Domains Protein: ENSMUSP00000077760
Gene: ENSMUSG00000061718

DomainStartEndE-ValueType
Pfam:DARPP-32 2 183 6.8e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132443
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133700
Predicted Effect probably benign
Transcript: ENSMUST00000137634
SMART Domains Protein: ENSMUSP00000123528
Gene: ENSMUSG00000061718

DomainStartEndE-ValueType
Pfam:DARPP-32 1 143 7.4e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141929
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147415
Predicted Effect probably benign
Transcript: ENSMUST00000150762
SMART Domains Protein: ENSMUSP00000121147
Gene: ENSMUSG00000061718

DomainStartEndE-ValueType
Pfam:DARPP-32 1 143 7.4e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152525
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152559
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155063
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 100% (37/37)
MGI Phenotype FUNCTION: This gene encodes a bifunctional signal transduction molecule. Dopaminergic and glutamatergic receptor stimulation regulates its phosphorylation and function as a kinase or phosphatase inhibitor. As a target for dopamine, this gene may serve as a therapeutic target for neurologic and psychiatric disorders in humans. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit elevated substance P-like immunoreactivity and deficits in responses to dopamine, cocaine, ethanol, and antipsychotic drugs. Abnormalities in striatal function were also noted. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik T A 5: 107,693,667 (GRCm39) F95I probably benign Het
Abcg5 A G 17: 84,977,648 (GRCm39) probably null Het
Amfr A T 8: 94,731,842 (GRCm39) N11K probably damaging Het
Bltp3a G T 17: 28,104,436 (GRCm39) R494L probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cdh23 C T 10: 60,218,432 (GRCm39) probably null Het
Chd4 A G 6: 125,081,849 (GRCm39) K481R probably damaging Het
Cyp2a22 T C 7: 26,633,687 (GRCm39) Y341C probably damaging Het
Ddb2 T C 2: 91,047,022 (GRCm39) T338A probably damaging Het
Fat2 A G 11: 55,174,599 (GRCm39) V2038A possibly damaging Het
Fbxo36 A G 1: 84,874,316 (GRCm39) K104R probably benign Het
Fmo9 A C 1: 166,501,236 (GRCm39) F237C probably damaging Het
Helz G A 11: 107,563,753 (GRCm39) probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Ifit1bl1 A T 19: 34,571,722 (GRCm39) I245K probably benign Het
Ighv1-22 T C 12: 114,709,918 (GRCm39) D109G probably damaging Het
Kcnk10 T C 12: 98,401,548 (GRCm39) R376G possibly damaging Het
Lrrc66 T A 5: 73,764,646 (GRCm39) E799V probably benign Het
Lrrc7 T A 3: 157,867,362 (GRCm39) N793I probably damaging Het
Nexn C T 3: 151,953,680 (GRCm39) E247K probably damaging Het
Ntmt1 A G 2: 30,712,377 (GRCm39) H140R probably damaging Het
Or11g27 T A 14: 50,770,897 (GRCm39) N9K probably benign Het
Or3a10 C T 11: 73,935,653 (GRCm39) G149D possibly damaging Het
Or9e1 T A 11: 58,732,708 (GRCm39) V256E probably benign Het
Pask A G 1: 93,249,373 (GRCm39) Y676H probably benign Het
Polq T A 16: 36,883,115 (GRCm39) F1760I possibly damaging Het
Psmf1 A G 2: 151,571,456 (GRCm39) L169P probably damaging Het
Rcbtb1 T A 14: 59,458,861 (GRCm39) probably null Het
S1pr4 C A 10: 81,335,073 (GRCm39) A134S probably damaging Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc24a1 T C 9: 64,856,614 (GRCm39) I98V unknown Het
Slc6a21 G A 7: 44,929,952 (GRCm39) A147T possibly damaging Het
Sycp3 A G 10: 88,303,234 (GRCm39) E166G probably damaging Het
Vmn2r82 T A 10: 79,217,090 (GRCm39) I474N probably damaging Het
Zfp1007 T C 5: 109,823,819 (GRCm39) T544A probably benign Het
Other mutations in Ppp1r1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01680:Ppp1r1b APN 11 98,241,392 (GRCm39) splice site probably null
IGL01979:Ppp1r1b APN 11 98,247,666 (GRCm39) missense probably damaging 0.99
IGL02455:Ppp1r1b APN 11 98,241,395 (GRCm39) missense probably damaging 1.00
IGL02818:Ppp1r1b APN 11 98,242,096 (GRCm39) missense possibly damaging 0.92
R1965:Ppp1r1b UTSW 11 98,246,189 (GRCm39) missense probably damaging 1.00
R4893:Ppp1r1b UTSW 11 98,246,170 (GRCm39) missense possibly damaging 0.69
R5514:Ppp1r1b UTSW 11 98,246,228 (GRCm39) missense probably damaging 1.00
R6315:Ppp1r1b UTSW 11 98,246,216 (GRCm39) missense probably damaging 1.00
R6813:Ppp1r1b UTSW 11 98,240,002 (GRCm39) critical splice donor site probably null
R7426:Ppp1r1b UTSW 11 98,246,305 (GRCm39) missense probably damaging 1.00
R7524:Ppp1r1b UTSW 11 98,241,720 (GRCm39) missense possibly damaging 0.48
R8507:Ppp1r1b UTSW 11 98,246,310 (GRCm39) missense probably damaging 1.00
R9014:Ppp1r1b UTSW 11 98,241,449 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCGTTCTCGGAACAGCTTAAGAG -3'
(R):5'- TTCTGGAAGAGCCACCACAC -3'

Sequencing Primer
(F):5'- ATGTGATTAAAAATGTACGCCTGTGG -3'
(R):5'- TGACCCACGGTAGCAGGAAC -3'
Posted On 2015-09-03