Incidental Mutation 'R1834:Ppp1r9a'
ID 205040
Institutional Source Beutler Lab
Gene Symbol Ppp1r9a
Ensembl Gene ENSMUSG00000032827
Gene Name protein phosphatase 1, regulatory subunit 9A
Synonyms NRB, neurabin-I, Neurabin I, A230094E16Rik, 4930518N04Rik, 2810430P21Rik
MMRRC Submission 039861-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.499) question?
Stock # R1834 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 4902917-5165661 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5113710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 738 (I738T)
Ref Sequence ENSEMBL: ENSMUSP00000046906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035813] [ENSMUST00000175889] [ENSMUST00000176263] [ENSMUST00000176729] [ENSMUST00000177456] [ENSMUST00000177153]
AlphaFold H3BJD6
Predicted Effect probably damaging
Transcript: ENSMUST00000035813
AA Change: I738T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000046906
Gene: ENSMUSG00000032827
AA Change: I738T

DomainStartEndE-ValueType
low complexity region 416 435 N/A INTRINSIC
PDZ 513 593 4.26e-18 SMART
low complexity region 608 620 N/A INTRINSIC
Blast:PDZ 741 778 5e-15 BLAST
low complexity region 784 798 N/A INTRINSIC
SAM 986 1052 6.41e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000065842
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164110
Predicted Effect probably benign
Transcript: ENSMUST00000175889
AA Change: I738T

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000135629
Gene: ENSMUSG00000032827
AA Change: I738T

DomainStartEndE-ValueType
low complexity region 416 435 N/A INTRINSIC
PDZ 513 593 4.26e-18 SMART
low complexity region 608 620 N/A INTRINSIC
Blast:PDZ 741 778 2e-15 BLAST
low complexity region 784 798 N/A INTRINSIC
SAM 986 1041 1.72e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176136
Predicted Effect probably benign
Transcript: ENSMUST00000176263
AA Change: I760T

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000134937
Gene: ENSMUSG00000032827
AA Change: I760T

DomainStartEndE-ValueType
low complexity region 416 435 N/A INTRINSIC
PDZ 513 593 4.26e-18 SMART
low complexity region 608 620 N/A INTRINSIC
low complexity region 643 649 N/A INTRINSIC
Blast:PDZ 763 800 2e-15 BLAST
low complexity region 806 820 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176729
SMART Domains Protein: ENSMUSP00000134909
Gene: ENSMUSG00000032827

DomainStartEndE-ValueType
low complexity region 96 115 N/A INTRINSIC
PDB:3HVQ|D 116 232 4e-79 PDB
SCOP:d1be9a_ 174 232 5e-9 SMART
Blast:PDZ 193 232 1e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000177456
AA Change: I738T

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000134943
Gene: ENSMUSG00000032827
AA Change: I738T

DomainStartEndE-ValueType
low complexity region 416 435 N/A INTRINSIC
PDZ 513 593 4.26e-18 SMART
low complexity region 608 620 N/A INTRINSIC
Blast:PDZ 741 778 2e-15 BLAST
low complexity region 784 798 N/A INTRINSIC
low complexity region 966 987 N/A INTRINSIC
low complexity region 1040 1049 N/A INTRINSIC
low complexity region 1103 1114 N/A INTRINSIC
SAM 1183 1249 6.41e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177153
AA Change: I738T

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000135485
Gene: ENSMUSG00000032827
AA Change: I738T

DomainStartEndE-ValueType
low complexity region 416 435 N/A INTRINSIC
PDZ 513 593 4.26e-18 SMART
low complexity region 608 620 N/A INTRINSIC
Blast:PDZ 741 778 2e-15 BLAST
low complexity region 784 798 N/A INTRINSIC
Meta Mutation Damage Score 0.0919 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 92.0%
Validation Efficiency 97% (116/119)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is imprinted, and located in a cluster of imprinted genes on chromosome 7q12. This gene is transcribed in both neuronal and multiple embryonic tissues, and it is maternally expressed mainly in embryonic skeletal muscle tissues and biallelically expressed in other embryonic tissues. The protein encoded by this gene includes a PDZ domain and a sterile alpha motif (SAM). It is a regulatory subunit of protein phosphatase I, and controls actin cytoskeleton reorganization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defects in dopamine-mediated neuromodulation, deficient long-term potentiation at corticostriatal synapses, increased spontaneous excitatory post-synaptic current frequency, and enhanced locomotor activationin response to cocaine treatment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 114 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,099,313 (GRCm39) D20G probably damaging Het
2310061N02Rik T A 16: 88,504,786 (GRCm39) S4C unknown Het
Abca3 A T 17: 24,595,666 (GRCm39) N340Y probably benign Het
Abcc1 A G 16: 14,240,981 (GRCm39) I513V possibly damaging Het
Acacb C T 5: 114,373,536 (GRCm39) T1855M probably damaging Het
Ace A G 11: 105,876,920 (GRCm39) probably benign Het
Acss2 T A 2: 155,400,550 (GRCm39) Y530N probably damaging Het
Adarb1 C A 10: 77,153,065 (GRCm39) probably benign Het
Afm T A 5: 90,674,283 (GRCm39) M265K probably benign Het
Agl A G 3: 116,582,000 (GRCm39) F293S probably benign Het
Aox1 G A 1: 58,348,150 (GRCm39) A623T probably benign Het
Arhgap31 C A 16: 38,424,065 (GRCm39) S667I probably benign Het
Bco1 A G 8: 117,844,176 (GRCm39) T297A probably benign Het
Bmp1 T C 14: 70,746,271 (GRCm39) S123G possibly damaging Het
Caps2 G A 10: 112,031,623 (GRCm39) D283N possibly damaging Het
Ccdc57 A C 11: 120,752,045 (GRCm39) S845R probably benign Het
Cd209f A G 8: 4,154,491 (GRCm39) S119P probably damaging Het
Chrna6 A G 8: 27,897,242 (GRCm39) S212P probably benign Het
Col10a1 G C 10: 34,271,011 (GRCm39) A328P probably damaging Het
Col4a2 A G 8: 11,452,997 (GRCm39) E188G probably benign Het
Creb1 C T 1: 64,590,109 (GRCm39) Q32* probably null Het
Cttnbp2 C T 6: 18,501,965 (GRCm39) V16M probably damaging Het
D430041D05Rik A G 2: 103,998,446 (GRCm39) S1102P probably damaging Het
Ddx31 C T 2: 28,782,465 (GRCm39) H603Y probably damaging Het
Ddx52 G A 11: 83,850,323 (GRCm39) C568Y probably benign Het
Dgki C A 6: 37,011,636 (GRCm39) probably benign Het
Dmrt1 A T 19: 25,487,063 (GRCm39) Q123L probably damaging Het
Dnah5 A T 15: 28,409,270 (GRCm39) M3563L probably benign Het
Dnah7b A T 1: 46,272,919 (GRCm39) N2349I possibly damaging Het
Dscaml1 T G 9: 45,594,930 (GRCm39) S678A probably benign Het
Ece1 C T 4: 137,685,312 (GRCm39) R601W probably damaging Het
Ece1 A G 4: 137,685,439 (GRCm39) N643S probably damaging Het
Eno1b A G 18: 48,180,530 (GRCm39) Y236C probably damaging Het
Esco1 T C 18: 10,594,350 (GRCm39) E312G probably damaging Het
Eya3 T A 4: 132,434,429 (GRCm39) V276E probably damaging Het
Fam161b A G 12: 84,395,552 (GRCm39) probably benign Het
Fem1c C T 18: 46,638,349 (GRCm39) G551D probably damaging Het
Fer1l6 T C 15: 58,429,718 (GRCm39) I155T possibly damaging Het
Gbp7 A G 3: 142,240,441 (GRCm39) Y53C probably damaging Het
Gjb3 G A 4: 127,220,224 (GRCm39) R103W probably damaging Het
Gm10030 C T 9: 110,833,947 (GRCm39) noncoding transcript Het
Gm3443 T A 19: 21,533,043 (GRCm39) H2Q unknown Het
Gm5800 T C 14: 51,953,549 (GRCm39) E22G possibly damaging Het
Gsdma2 G T 11: 98,539,905 (GRCm39) R9L probably damaging Het
Gvin3 A T 7: 106,202,983 (GRCm39) V87D possibly damaging Het
Ica1l A G 1: 60,067,395 (GRCm39) probably benign Het
Ice1 G A 13: 70,763,457 (GRCm39) T167I probably damaging Het
Ifi204 T A 1: 173,575,172 (GRCm39) R618S unknown Het
Itga2 C A 13: 114,993,262 (GRCm39) K784N probably damaging Het
Itga2 T A 13: 114,993,263 (GRCm39) K784M probably damaging Het
Kif3b A G 2: 153,159,405 (GRCm39) E402G probably benign Het
Lrp2 T C 2: 69,297,224 (GRCm39) I3246V probably benign Het
Lrrn3 G T 12: 41,503,517 (GRCm39) L267I probably damaging Het
Map1s A G 8: 71,369,055 (GRCm39) Y868C probably damaging Het
Mcm5 A G 8: 75,845,901 (GRCm39) T370A possibly damaging Het
Nat8f7 T C 6: 85,684,793 (GRCm39) S16G probably benign Het
Nav3 T C 10: 109,555,883 (GRCm39) T1683A probably damaging Het
Nbeal2 T C 9: 110,456,197 (GRCm39) N2417S probably damaging Het
Neb T C 2: 52,126,907 (GRCm39) N3605S probably damaging Het
Net1 A T 13: 3,962,941 (GRCm39) probably benign Het
Nsd1 A G 13: 55,461,164 (GRCm39) T2464A possibly damaging Het
Nt5e T A 9: 88,252,240 (GRCm39) I534N probably damaging Het
Nudt12 T A 17: 59,318,071 (GRCm39) H58L probably damaging Het
Ocrl T A X: 47,050,993 (GRCm39) I74N probably damaging Het
Or1a1 A G 11: 74,086,479 (GRCm39) H50R probably benign Het
Or2ag13 A G 7: 106,473,348 (GRCm39) Y35H probably damaging Het
Or5ae2 A G 7: 84,505,690 (GRCm39) T38A probably damaging Het
Or9k2b A G 10: 130,016,701 (GRCm39) I16T probably benign Het
Pef1 C A 4: 130,014,966 (GRCm39) C10* probably null Het
Phf21b A G 15: 84,681,547 (GRCm39) Y256H probably damaging Het
Phox2a G T 7: 101,470,152 (GRCm39) probably null Het
Pi16 A G 17: 29,546,419 (GRCm39) E399G possibly damaging Het
Pipox A T 11: 77,772,949 (GRCm39) Y321N probably damaging Het
Plin4 A G 17: 56,410,522 (GRCm39) S1170P probably damaging Het
Pnma2 C T 14: 67,154,662 (GRCm39) S362L possibly damaging Het
Prkcsh A T 9: 21,919,634 (GRCm39) K188M probably damaging Het
Rcc1l A T 5: 134,192,498 (GRCm39) Y309N probably damaging Het
Ripk1 A G 13: 34,199,196 (GRCm39) T123A probably benign Het
Robo4 A G 9: 37,324,355 (GRCm39) D961G probably benign Het
Rps27a A G 11: 29,496,299 (GRCm39) Y105H probably benign Het
Scaper A G 9: 55,724,018 (GRCm39) Y641H possibly damaging Het
Scn1a C A 2: 66,154,960 (GRCm39) Q666H probably benign Het
Scn1a T A 2: 66,154,961 (GRCm39) Q666L probably benign Het
Sdhaf4 T C 1: 24,042,234 (GRCm39) probably null Het
Sec14l3 A G 11: 4,016,510 (GRCm39) probably benign Het
Selp C A 1: 163,955,729 (GRCm39) probably null Het
Sim1 A G 10: 50,785,924 (GRCm39) D259G probably damaging Het
Sptan1 T A 2: 29,882,013 (GRCm39) probably benign Het
Sptbn4 T A 7: 27,066,071 (GRCm39) E679V probably null Het
Sytl3 G A 17: 6,995,726 (GRCm39) E169K probably benign Het
Taar1 T C 10: 23,797,087 (GRCm39) C262R probably benign Het
Taf7l2 T C 10: 115,948,570 (GRCm39) R319G probably benign Het
Tbc1d32 A G 10: 55,893,700 (GRCm39) I1291T probably benign Het
Tet1 G A 10: 62,649,444 (GRCm39) P89S probably damaging Het
Tgfbrap1 C A 1: 43,110,795 (GRCm39) G7W probably damaging Het
Thada A G 17: 84,533,432 (GRCm39) V1673A possibly damaging Het
Thbs4 A G 13: 92,897,989 (GRCm39) V610A probably benign Het
Tmem163 A G 1: 127,605,246 (GRCm39) S41P probably benign Het
Tmem65 A T 15: 58,658,962 (GRCm39) H200Q probably damaging Het
Trgc3 A G 13: 19,447,535 (GRCm39) T163A possibly damaging Het
Trim62 T C 4: 128,803,018 (GRCm39) V356A possibly damaging Het
Ttn T C 2: 76,562,502 (GRCm39) D28781G probably damaging Het
Ttn C T 2: 76,593,604 (GRCm39) V20679I probably benign Het
Tut7 A T 13: 59,962,749 (GRCm39) Y339* probably null Het
Unc80 A T 1: 66,678,407 (GRCm39) T2063S possibly damaging Het
Vav3 A G 3: 109,413,742 (GRCm39) T227A probably benign Het
Vmn2r118 A T 17: 55,899,456 (GRCm39) I816N probably damaging Het
Vmn2r26 T A 6: 124,038,369 (GRCm39) M648K possibly damaging Het
Vmn2r88 T G 14: 51,650,487 (GRCm39) probably benign Het
Vwa3a A G 7: 120,389,359 (GRCm39) T66A probably benign Het
Xirp2 T A 2: 67,341,484 (GRCm39) Y1242N probably damaging Het
Ywhag G A 5: 135,940,384 (GRCm39) T70M probably damaging Het
Zfp248 T C 6: 118,405,931 (GRCm39) T452A probably damaging Het
Zfp988 A T 4: 147,417,344 (GRCm39) I593F probably damaging Het
Other mutations in Ppp1r9a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00480:Ppp1r9a APN 6 5,158,195 (GRCm39) missense possibly damaging 0.72
IGL00796:Ppp1r9a APN 6 5,157,014 (GRCm39) missense probably benign 0.37
IGL00906:Ppp1r9a APN 6 5,157,023 (GRCm39) missense possibly damaging 0.62
IGL01662:Ppp1r9a APN 6 5,115,322 (GRCm39) missense probably damaging 1.00
IGL01695:Ppp1r9a APN 6 5,064,003 (GRCm39) missense probably damaging 1.00
IGL01807:Ppp1r9a APN 6 5,158,248 (GRCm39) nonsense probably null
IGL02126:Ppp1r9a APN 6 5,156,229 (GRCm39) missense probably damaging 1.00
IGL02423:Ppp1r9a APN 6 4,906,537 (GRCm39) missense probably benign 0.25
IGL03343:Ppp1r9a APN 6 5,046,015 (GRCm39) missense probably damaging 1.00
IGL03365:Ppp1r9a APN 6 5,110,993 (GRCm39) splice site probably benign
R0545:Ppp1r9a UTSW 6 5,115,357 (GRCm39) missense probably benign 0.45
R1126:Ppp1r9a UTSW 6 4,906,795 (GRCm39) missense possibly damaging 0.93
R1137:Ppp1r9a UTSW 6 5,159,697 (GRCm39) missense possibly damaging 0.46
R1443:Ppp1r9a UTSW 6 5,057,557 (GRCm39) missense probably damaging 1.00
R1484:Ppp1r9a UTSW 6 5,113,712 (GRCm39) nonsense probably null
R1545:Ppp1r9a UTSW 6 5,156,242 (GRCm39) critical splice donor site probably null
R1627:Ppp1r9a UTSW 6 4,906,168 (GRCm39) missense possibly damaging 0.50
R1672:Ppp1r9a UTSW 6 5,143,491 (GRCm39) critical splice donor site probably null
R1826:Ppp1r9a UTSW 6 5,111,060 (GRCm39) splice site probably benign
R1874:Ppp1r9a UTSW 6 4,906,348 (GRCm39) missense possibly damaging 0.87
R2224:Ppp1r9a UTSW 6 5,154,074 (GRCm39) missense probably benign
R2227:Ppp1r9a UTSW 6 5,154,074 (GRCm39) missense probably benign
R2898:Ppp1r9a UTSW 6 4,906,558 (GRCm39) missense probably benign 0.01
R3606:Ppp1r9a UTSW 6 5,113,674 (GRCm39) missense possibly damaging 0.90
R3732:Ppp1r9a UTSW 6 4,906,259 (GRCm39) unclassified probably benign
R3927:Ppp1r9a UTSW 6 5,057,531 (GRCm39) missense probably damaging 1.00
R4631:Ppp1r9a UTSW 6 4,906,537 (GRCm39) missense possibly damaging 0.62
R4682:Ppp1r9a UTSW 6 4,905,477 (GRCm39) missense possibly damaging 0.48
R4766:Ppp1r9a UTSW 6 5,157,016 (GRCm39) missense probably benign 0.11
R5197:Ppp1r9a UTSW 6 5,156,177 (GRCm39) missense probably damaging 1.00
R5217:Ppp1r9a UTSW 6 5,115,367 (GRCm39) missense probably damaging 1.00
R5493:Ppp1r9a UTSW 6 5,159,702 (GRCm39) missense probably damaging 0.99
R5790:Ppp1r9a UTSW 6 5,134,363 (GRCm39) intron probably benign
R5828:Ppp1r9a UTSW 6 5,158,200 (GRCm39) missense probably damaging 1.00
R5896:Ppp1r9a UTSW 6 5,159,648 (GRCm39) missense probably damaging 1.00
R5930:Ppp1r9a UTSW 6 5,157,002 (GRCm39) critical splice acceptor site probably null
R5990:Ppp1r9a UTSW 6 5,134,660 (GRCm39) missense probably benign 0.05
R6017:Ppp1r9a UTSW 6 4,906,363 (GRCm39) missense probably benign 0.18
R6122:Ppp1r9a UTSW 6 4,905,509 (GRCm39) missense probably damaging 1.00
R6164:Ppp1r9a UTSW 6 5,110,715 (GRCm39) intron probably benign
R6175:Ppp1r9a UTSW 6 4,905,639 (GRCm39) nonsense probably null
R6188:Ppp1r9a UTSW 6 5,158,113 (GRCm39) nonsense probably null
R6233:Ppp1r9a UTSW 6 5,077,610 (GRCm39) missense probably damaging 1.00
R6321:Ppp1r9a UTSW 6 5,115,151 (GRCm39) missense probably damaging 1.00
R6449:Ppp1r9a UTSW 6 5,057,458 (GRCm39) missense probably benign 0.44
R6454:Ppp1r9a UTSW 6 4,905,827 (GRCm39) missense probably damaging 1.00
R6527:Ppp1r9a UTSW 6 5,045,949 (GRCm39) missense probably damaging 1.00
R7053:Ppp1r9a UTSW 6 4,905,670 (GRCm39) missense probably damaging 1.00
R7233:Ppp1r9a UTSW 6 5,134,804 (GRCm39) missense probably benign
R7238:Ppp1r9a UTSW 6 5,159,716 (GRCm39) missense probably damaging 1.00
R7438:Ppp1r9a UTSW 6 5,115,378 (GRCm39) missense probably damaging 0.99
R7497:Ppp1r9a UTSW 6 4,905,775 (GRCm39) missense probably damaging 1.00
R7666:Ppp1r9a UTSW 6 5,143,238 (GRCm39) missense probably benign 0.00
R7698:Ppp1r9a UTSW 6 4,906,430 (GRCm39) missense probably benign
R7850:Ppp1r9a UTSW 6 4,905,894 (GRCm39) missense possibly damaging 0.77
R8029:Ppp1r9a UTSW 6 5,057,518 (GRCm39) missense possibly damaging 0.76
R8392:Ppp1r9a UTSW 6 5,143,491 (GRCm39) critical splice donor site probably null
R8411:Ppp1r9a UTSW 6 5,057,568 (GRCm39) missense probably damaging 1.00
R8431:Ppp1r9a UTSW 6 5,115,456 (GRCm39) missense probably benign 0.01
R8699:Ppp1r9a UTSW 6 5,115,474 (GRCm39) missense probably benign 0.00
R8708:Ppp1r9a UTSW 6 5,115,196 (GRCm39) missense probably damaging 1.00
R9039:Ppp1r9a UTSW 6 5,134,657 (GRCm39) missense probably benign 0.00
R9096:Ppp1r9a UTSW 6 4,906,012 (GRCm39) missense probably damaging 1.00
R9097:Ppp1r9a UTSW 6 4,906,012 (GRCm39) missense probably damaging 1.00
R9131:Ppp1r9a UTSW 6 5,134,106 (GRCm39) missense possibly damaging 0.86
R9279:Ppp1r9a UTSW 6 5,113,757 (GRCm39) missense probably damaging 1.00
R9512:Ppp1r9a UTSW 6 5,115,364 (GRCm39) missense probably damaging 0.99
R9512:Ppp1r9a UTSW 6 5,113,681 (GRCm39) missense probably benign 0.27
R9567:Ppp1r9a UTSW 6 5,157,004 (GRCm39) missense probably benign 0.34
R9672:Ppp1r9a UTSW 6 5,007,889 (GRCm39) missense unknown
R9687:Ppp1r9a UTSW 6 4,905,978 (GRCm39) missense probably damaging 1.00
R9715:Ppp1r9a UTSW 6 5,045,936 (GRCm39) missense probably damaging 0.96
RF007:Ppp1r9a UTSW 6 4,906,657 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAATAGTGTGGAGAGATGGTGCTAC -3'
(R):5'- ATGGCTGTGATCTGACAGGG -3'

Sequencing Primer
(F):5'- ATGGTGCTACAGACATGCC -3'
(R):5'- CTGTGATCTGACAGGGACAGC -3'
Posted On 2014-06-23