Incidental Mutation 'IGL01979:Ppp1r1b'
ID 181810
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp1r1b
Ensembl Gene ENSMUSG00000061718
Gene Name protein phosphatase 1, regulatory inhibitor subunit 1B
Synonyms Darpp32, DARPP-32
Accession Numbers
Essential gene? Probably non essential (E-score: 0.142) question?
Stock # IGL01979
Quality Score
Status
Chromosome 11
Chromosomal Location 98239232-98248622 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 98247666 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 111 (T111I)
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 possibly damaging
Transcript: ENSMUST00000078694
AA Change: T147I

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000077760
Gene: ENSMUSG00000061718
AA Change: T147I

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 possibly damaging
Transcript: ENSMUST00000137634
AA Change: T111I

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000123528
Gene: ENSMUSG00000061718
AA Change: T111I

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 damaging
Transcript: ENSMUST00000150762
AA Change: T111I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000121147
Gene: ENSMUSG00000061718
AA Change: T111I

DomainStartEndE-ValueType
Pfam:DARPP-32 1 143 7.4e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155063
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152559
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152525
Coding Region Coverage
Validation Efficiency
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Ap3b1 T A 13: 94,584,971 (GRCm39) L394* probably null Het
Cdk2ap1 C T 5: 124,486,772 (GRCm39) V57M probably damaging Het
Csnk2b T A 17: 35,336,992 (GRCm39) N65I possibly damaging Het
Dennd4a G A 9: 64,801,691 (GRCm39) E945K probably benign Het
Eif2b2 A G 12: 85,266,608 (GRCm39) D59G probably benign Het
Ero1a A T 14: 45,525,201 (GRCm39) N441K probably damaging Het
Fam91a1 A G 15: 58,304,433 (GRCm39) D383G probably damaging Het
Fbxl7 C A 15: 26,789,649 (GRCm39) S26I probably damaging Het
Il20 A T 1: 130,838,839 (GRCm39) I42K probably damaging Het
Nav3 A G 10: 109,540,790 (GRCm39) F1947L probably benign Het
Ncapd3 T A 9: 26,983,261 (GRCm39) probably null Het
Numb G T 12: 83,889,051 (GRCm39) H23N probably damaging Het
Or10q3 G A 19: 11,848,587 (GRCm39) probably benign Het
Or5p79 A G 7: 108,221,648 (GRCm39) I210V probably benign Het
Rad50 G A 11: 53,577,005 (GRCm39) Q528* probably null Het
Scara3 A T 14: 66,168,412 (GRCm39) S402T probably benign Het
Septin3 A G 15: 82,168,593 (GRCm39) Y132C probably damaging Het
Sim2 C A 16: 93,924,341 (GRCm39) N495K possibly damaging Het
Slc9b1 A G 3: 135,077,743 (GRCm39) probably null Het
Tanc2 A G 11: 105,667,746 (GRCm39) D109G probably benign Het
Tex55 A C 16: 38,648,255 (GRCm39) S285A possibly damaging Het
Traf1 T C 2: 34,833,905 (GRCm39) I404V probably benign Het
Vmn2r68 C A 7: 84,871,325 (GRCm39) V653L probably benign Het
Wdr93 A T 7: 79,426,400 (GRCm39) Q555L probably benign Het
Other mutations in Ppp1r1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01680:Ppp1r1b APN 11 98,241,392 (GRCm39) splice site probably null
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
R2858:Ppp1r1b UTSW 11 98,246,145 (GRCm39) splice site probably benign
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
Posted On 2014-05-07