Incidental Mutation 'R6188:Ppp1r9a'
ID 502310
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 044328-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.499) question?
Stock # R6188 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 4902917-5165661 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 5158113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 1174 (K1174*)
Ref Sequence ENSEMBL: ENSMUSP00000134943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035813] [ENSMUST00000175889] [ENSMUST00000176263] [ENSMUST00000176729] [ENSMUST00000177153] [ENSMUST00000177456]
AlphaFold H3BJD6
Predicted Effect probably null
Transcript: ENSMUST00000035813
AA Change: K977*
SMART Domains Protein: ENSMUSP00000046906
Gene: ENSMUSG00000032827
AA Change: K977*

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: ENSMUST00000164110
Predicted Effect probably null
Transcript: ENSMUST00000175889
AA Change: K977*
SMART Domains Protein: ENSMUSP00000135629
Gene: ENSMUSG00000032827
AA Change: K977*

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 probably benign
Transcript: ENSMUST00000176263
SMART Domains Protein: ENSMUSP00000134937
Gene: ENSMUSG00000032827

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: ENSMUST00000177153
SMART Domains Protein: ENSMUSP00000135485
Gene: ENSMUSG00000032827

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
Predicted Effect probably null
Transcript: ENSMUST00000177456
AA Change: K1174*
SMART Domains Protein: ENSMUSP00000134943
Gene: ENSMUSG00000032827
AA Change: K1174*

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
Meta Mutation Damage Score 0.9754 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 98% (61/62)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,331,850 (GRCm39) I88F possibly damaging Het
4930407I10Rik T C 15: 81,943,471 (GRCm39) S28P probably benign Het
a A T 2: 154,889,602 (GRCm39) N56I probably damaging Het
Apoe C A 7: 19,432,305 (GRCm39) probably benign Het
Aspm C A 1: 139,406,977 (GRCm39) R1955S possibly damaging Het
Boc G A 16: 44,319,911 (GRCm39) L358F possibly damaging Het
Cadm2 A T 16: 66,612,195 (GRCm39) probably null Het
Ccdc183 T C 2: 25,499,764 (GRCm39) E384G probably benign Het
Ccl12 A G 11: 81,993,943 (GRCm39) T67A probably damaging Het
Cep120 T C 18: 53,857,529 (GRCm39) D312G probably benign Het
Cmya5 A G 13: 93,229,952 (GRCm39) V1712A possibly damaging Het
Cmya5 A G 13: 93,233,784 (GRCm39) S435P possibly damaging Het
Dmbt1 A T 7: 130,699,361 (GRCm39) N997Y probably damaging Het
Dock2 T A 11: 34,453,396 (GRCm39) I86F probably damaging Het
Duox1 A G 2: 122,150,275 (GRCm39) Q168R probably benign Het
Epb41l4a T A 18: 33,965,718 (GRCm39) I370L probably benign Het
Erc2 T A 14: 28,039,208 (GRCm39) D950E probably damaging Het
Exoc6b A G 6: 84,832,479 (GRCm39) V405A probably damaging Het
F13a1 T C 13: 37,209,752 (GRCm39) D71G probably benign Het
Fam151a A T 4: 106,602,696 (GRCm39) Y205F possibly damaging Het
Fcnb C A 2: 27,969,202 (GRCm39) R165M possibly damaging Het
Fndc3a C T 14: 72,827,401 (GRCm39) V50I probably damaging Het
Gm13276 C T 4: 88,704,096 (GRCm39) Q51* probably null Het
Grik1 T C 16: 87,852,959 (GRCm39) T75A probably benign Het
Grip2 A G 6: 91,740,514 (GRCm39) L1015P probably damaging Het
Hnrnpk A G 13: 58,541,967 (GRCm39) F339L probably benign Het
Iqgap3 A G 3: 88,006,200 (GRCm39) D537G probably benign Het
Kars1 C T 8: 112,735,113 (GRCm39) probably null Het
Kpna7 G T 5: 144,929,654 (GRCm39) N390K probably damaging Het
Krt36 A T 11: 99,993,246 (GRCm39) S410T probably benign Het
Lingo4 A G 3: 94,310,157 (GRCm39) E365G probably damaging Het
Liph T C 16: 21,803,018 (GRCm39) D17G probably benign Het
Lmbrd1 C A 1: 24,750,626 (GRCm39) N166K probably benign Het
Lypd9 T C 11: 58,337,182 (GRCm39) E97G probably benign Het
Nup155 T C 15: 8,139,059 (GRCm39) S44P probably damaging Het
Or2m12 A G 16: 19,105,307 (GRCm39) M62T probably damaging Het
Or4a72 A T 2: 89,405,538 (GRCm39) C177* probably null Het
Or5a3 A G 19: 12,399,974 (GRCm39) I100M probably benign Het
Pcdhga6 T C 18: 37,841,324 (GRCm39) V348A probably benign Het
Phc3 G A 3: 30,991,198 (GRCm39) Q295* probably null Het
Phyh A G 2: 4,932,301 (GRCm39) E129G probably damaging Het
Polb A G 8: 23,137,463 (GRCm39) S96P probably damaging Het
Ppp1r9b C T 11: 94,882,662 (GRCm39) R97W probably damaging Het
Pttg1ip T C 10: 77,418,342 (GRCm39) probably null Het
Pygm G A 19: 6,447,967 (GRCm39) probably null Het
Rgs20 GGAGAGAG GGAGAG 1: 5,091,106 (GRCm39) probably null Het
Rlf T C 4: 121,027,963 (GRCm39) H111R probably damaging Het
Rmdn3 A G 2: 118,969,831 (GRCm39) probably null Het
Ror2 T A 13: 53,265,347 (GRCm39) T570S probably damaging Het
Sel1l3 A C 5: 53,313,061 (GRCm39) I542R possibly damaging Het
Serpinb3d A G 1: 107,006,237 (GRCm39) F284L probably damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc38a2 A G 15: 96,590,397 (GRCm39) probably null Het
Spata31e2 T A 1: 26,724,784 (GRCm39) Y132F probably damaging Het
Spata31h1 A G 10: 82,121,091 (GRCm39) I3973T probably damaging Het
Tet2 T C 3: 133,186,087 (GRCm39) S1117G probably benign Het
Trav15-1-dv6-1 C T 14: 53,797,414 (GRCm39) A21V probably damaging Het
Tsr3 G T 17: 25,460,835 (GRCm39) D234Y probably null Het
Vmn1r220 A T 13: 23,368,084 (GRCm39) L204H probably damaging Het
Vmn1r3 A T 4: 3,185,017 (GRCm39) S97T probably damaging Het
Zfp599 A G 9: 22,161,286 (GRCm39) F293S probably damaging Het
Zfp983 A G 17: 21,877,935 (GRCm39) Y46C 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
R1834:Ppp1r9a UTSW 6 5,113,710 (GRCm39) missense probably damaging 0.98
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
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'- TTCCATCTACCAGAATCAGATAGG -3'
(R):5'- CAACCATGTCAGGTGCTAAAAG -3'

Sequencing Primer
(F):5'- CAGCTCTTGTAACTTGAGAA -3'
(R):5'- TAGCACAGACGAAGCATTCTTTAC -3'
Posted On 2018-02-27