Incidental Mutation 'R7587:Ppp1r9b'
ID 587223
Institutional Source Beutler Lab
Gene Symbol Ppp1r9b
Ensembl Gene ENSMUSG00000038976
Gene Name protein phosphatase 1, regulatory subunit 9B
Synonyms neurabin II, Spn, SPL, spinophilin
MMRRC Submission 045712-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7587 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 94882038-94897724 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94892766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 655 (D655E)
Ref Sequence ENSEMBL: ENSMUSP00000041732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038696] [ENSMUST00000107748]
AlphaFold Q6R891
Predicted Effect possibly damaging
Transcript: ENSMUST00000038696
AA Change: D655E

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000041732
Gene: ENSMUSG00000038976
AA Change: D655E

DomainStartEndE-ValueType
low complexity region 64 83 N/A INTRINSIC
low complexity region 126 142 N/A INTRINSIC
low complexity region 226 237 N/A INTRINSIC
low complexity region 253 260 N/A INTRINSIC
low complexity region 281 317 N/A INTRINSIC
low complexity region 332 361 N/A INTRINSIC
low complexity region 399 430 N/A INTRINSIC
Blast:PDZ 431 458 4e-10 BLAST
PDZ 504 584 7.03e-19 SMART
low complexity region 600 612 N/A INTRINSIC
Blast:PDZ 731 768 2e-10 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000107748
AA Change: D231E

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000103377
Gene: ENSMUSG00000038976
AA Change: D231E

DomainStartEndE-ValueType
PDZ 80 160 7.03e-19 SMART
low complexity region 176 188 N/A INTRINSIC
Blast:PDZ 307 344 4e-10 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (63/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a scaffold protein that functions as a regulatory subunit of protein phosphatase 1a. Expression of this gene is particularly high in dendritic spines, suggesting that the encoded protein may play a role in receiving signals from the central nervous system. The encoded protein has putative tumor suppressor function and decreased expression has been observed in tumors. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit abnormal glutamatergic synaptic transmission, reduced long-term depression, resistance to kainate-induced seizures, impaired taste aversion learning, and increased dendritic spine density. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl T C 3: 116,585,736 (GRCm39) T131A probably damaging Het
Asah1 A T 8: 41,827,578 (GRCm39) V15D probably benign Het
Asic1 A C 15: 99,593,471 (GRCm39) Q276P probably damaging Het
Atl2 A T 17: 80,172,496 (GRCm39) V158E probably benign Het
Atrn T A 2: 130,822,034 (GRCm39) I909N probably damaging Het
BC034090 A G 1: 155,093,232 (GRCm39) V742A probably damaging Het
Capzb T A 4: 138,989,334 (GRCm39) D85E possibly damaging Het
Cdh20 T C 1: 104,869,004 (GRCm39) F165S probably damaging Het
Cfap44 A G 16: 44,224,469 (GRCm39) E59G probably benign Het
Clpsl2 G A 17: 28,768,515 (GRCm39) V10I probably benign Het
D630003M21Rik T A 2: 158,042,976 (GRCm39) S855C probably damaging Het
D630003M21Rik T C 2: 158,038,308 (GRCm39) Y1046C probably benign Het
D6Wsu163e A G 6: 126,932,859 (GRCm39) I361V probably benign Het
Dchs2 A G 3: 83,211,822 (GRCm39) I1874V probably benign Het
Dennd2a T G 6: 39,460,069 (GRCm39) K679Q probably damaging Het
Dio2 A G 12: 90,696,334 (GRCm39) V218A probably benign Het
Gpr107 A T 2: 31,058,838 (GRCm39) K109N probably benign Het
Gpr108 C T 17: 57,543,732 (GRCm39) R448Q probably damaging Het
Gucy2c A G 6: 136,681,288 (GRCm39) V932A probably damaging Het
Kcnj8 T C 6: 142,512,065 (GRCm39) T181A probably damaging Het
Kdm3b A G 18: 34,930,080 (GRCm39) probably null Het
Lipc A G 9: 70,726,206 (GRCm39) Y168H probably damaging Het
Lipi C T 16: 75,347,103 (GRCm39) V439M probably benign Het
Lpp A T 16: 24,581,029 (GRCm39) probably null Het
Lrp1b T G 2: 40,620,729 (GRCm39) D3583A Het
Ltbr T C 6: 125,289,315 (GRCm39) T165A probably benign Het
Mroh3 A G 1: 136,118,736 (GRCm39) I527T probably benign Het
Mylk A G 16: 34,742,887 (GRCm39) E1133G probably benign Het
Nat3 T C 8: 68,000,226 (GRCm39) I35T probably damaging Het
Ncbp3 T C 11: 72,957,591 (GRCm39) probably null Het
Nedd1 G A 10: 92,534,592 (GRCm39) T306M probably benign Het
Nexn T C 3: 151,952,815 (GRCm39) R316G probably benign Het
Nox4 A G 7: 86,966,510 (GRCm39) H207R probably damaging Het
Nsun6 T C 2: 15,044,636 (GRCm39) Q110R probably benign Het
Or1e1b-ps1 C T 11: 73,846,010 (GRCm39) Q165* probably null Het
Or52n2c C T 7: 104,574,263 (GRCm39) R236H probably benign Het
Or7g32 T A 9: 19,408,818 (GRCm39) V258E probably damaging Het
Pappa2 T C 1: 158,678,701 (GRCm39) D905G probably damaging Het
Pepd T C 7: 34,668,965 (GRCm39) L195S probably damaging Het
Pms1 A G 1: 53,246,475 (GRCm39) S355P probably benign Het
Pop1 A T 15: 34,502,559 (GRCm39) K82M probably damaging Het
Ppt2 A G 17: 34,845,777 (GRCm39) probably null Het
Pramel57 A G 5: 95,669,270 (GRCm39) T100A probably damaging Het
Prss35 T A 9: 86,637,427 (GRCm39) C66S probably damaging Het
Rfc3 A T 5: 151,574,616 (GRCm39) M1K probably null Het
Rffl T C 11: 82,700,974 (GRCm39) D284G probably damaging Het
Robo3 T C 9: 37,340,942 (GRCm39) D110G probably damaging Het
Rtel1 G A 2: 180,964,108 (GRCm39) V36M probably damaging Het
Slc1a7 T A 4: 107,867,683 (GRCm39) I457K possibly damaging Het
Smco1 A G 16: 32,092,541 (GRCm39) M71V probably benign Het
Snrnp200 G A 2: 127,069,822 (GRCm39) S989N probably damaging Het
Spef2 T A 15: 9,713,305 (GRCm39) I356F probably damaging Het
Stk24 C T 14: 121,539,699 (GRCm39) A166T probably damaging Het
Tada2b T C 5: 36,634,111 (GRCm39) I156V probably benign Het
Tasor2 T C 13: 3,618,849 (GRCm39) K2251E possibly damaging Het
Tbce C T 13: 14,194,327 (GRCm39) V111M probably damaging Het
Tlnrd1 A G 7: 83,532,155 (GRCm39) L92P probably damaging Het
Tnr T A 1: 159,713,778 (GRCm39) D735E probably benign Het
Tram1 T C 1: 13,649,771 (GRCm39) H110R probably damaging Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Unc5b C T 10: 60,618,899 (GRCm39) C81Y probably damaging Het
Vps13a G A 19: 16,681,153 (GRCm39) T1041M probably benign Het
Other mutations in Ppp1r9b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01714:Ppp1r9b APN 11 94,896,180 (GRCm39) missense probably damaging 0.96
IGL02261:Ppp1r9b APN 11 94,892,936 (GRCm39) missense probably damaging 1.00
R0068:Ppp1r9b UTSW 11 94,892,046 (GRCm39) missense probably damaging 1.00
R0719:Ppp1r9b UTSW 11 94,892,661 (GRCm39) splice site probably null
R1185:Ppp1r9b UTSW 11 94,892,812 (GRCm39) missense possibly damaging 0.95
R1185:Ppp1r9b UTSW 11 94,892,812 (GRCm39) missense possibly damaging 0.95
R1185:Ppp1r9b UTSW 11 94,892,812 (GRCm39) missense possibly damaging 0.95
R1385:Ppp1r9b UTSW 11 94,883,037 (GRCm39) missense probably benign 0.06
R1639:Ppp1r9b UTSW 11 94,887,436 (GRCm39) missense probably damaging 1.00
R1642:Ppp1r9b UTSW 11 94,892,150 (GRCm39) synonymous silent
R2000:Ppp1r9b UTSW 11 94,887,446 (GRCm39) missense probably damaging 1.00
R2162:Ppp1r9b UTSW 11 94,888,877 (GRCm39) missense probably damaging 1.00
R2332:Ppp1r9b UTSW 11 94,887,435 (GRCm39) missense probably damaging 0.96
R3815:Ppp1r9b UTSW 11 94,883,359 (GRCm39) missense probably damaging 1.00
R4426:Ppp1r9b UTSW 11 94,892,150 (GRCm39) missense possibly damaging 0.93
R4427:Ppp1r9b UTSW 11 94,892,150 (GRCm39) missense possibly damaging 0.93
R5121:Ppp1r9b UTSW 11 94,887,479 (GRCm39) missense probably damaging 0.99
R5205:Ppp1r9b UTSW 11 94,892,124 (GRCm39) missense probably benign 0.11
R5348:Ppp1r9b UTSW 11 94,887,438 (GRCm39) nonsense probably null
R5397:Ppp1r9b UTSW 11 94,892,936 (GRCm39) missense probably damaging 1.00
R5399:Ppp1r9b UTSW 11 94,882,974 (GRCm39) missense probably benign
R6188:Ppp1r9b UTSW 11 94,882,662 (GRCm39) missense probably damaging 0.99
R6860:Ppp1r9b UTSW 11 94,882,974 (GRCm39) missense probably benign
R7308:Ppp1r9b UTSW 11 94,895,397 (GRCm39) missense possibly damaging 0.86
R7357:Ppp1r9b UTSW 11 94,895,424 (GRCm39) missense probably benign 0.00
R7479:Ppp1r9b UTSW 11 94,882,858 (GRCm39) missense possibly damaging 0.85
R7651:Ppp1r9b UTSW 11 94,892,768 (GRCm39) missense probably benign 0.03
R7871:Ppp1r9b UTSW 11 94,892,735 (GRCm39) missense probably damaging 1.00
R8692:Ppp1r9b UTSW 11 94,891,077 (GRCm39) missense probably damaging 1.00
R8964:Ppp1r9b UTSW 11 94,882,705 (GRCm39) missense probably damaging 0.99
R9009:Ppp1r9b UTSW 11 94,887,467 (GRCm39) missense probably benign 0.15
R9059:Ppp1r9b UTSW 11 94,883,254 (GRCm39) missense probably benign 0.28
Predicted Primers PCR Primer
(F):5'- TCCCTATTCTAGCCGTGGAGAC -3'
(R):5'- GGATTTCCGCTTCAGTGACAG -3'

Sequencing Primer
(F):5'- CATACTGCTGCTGGTGTCCG -3'
(R):5'- CAGTGACAGCATGCTTGATC -3'
Posted On 2019-10-24