Incidental Mutation 'R6321:Ppp1r9a'
ID 510341
Institutional Source Beutler Lab
Gene Symbol Ppp1r9a
Ensembl Gene ENSMUSG00000032827
Gene Name protein phosphatase 1, regulatory (inhibitor) subunit 9A
Synonyms A230094E16Rik, Neurabin I, 2810430P21Rik, neurabin-I, NRB, 4930518N04Rik
MMRRC Submission 044418-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.626) question?
Stock # R6321 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 4902917-5165661 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5115151 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 789 (E789G)
Ref Sequence ENSEMBL: ENSMUSP00000135629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035813] [ENSMUST00000175889] [ENSMUST00000176263] [ENSMUST00000176729] [ENSMUST00000177153] [ENSMUST00000177456]
AlphaFold H3BJD6
Predicted Effect probably damaging
Transcript: ENSMUST00000035813
AA Change: E789G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046906
Gene: ENSMUSG00000032827
AA Change: E789G

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 damaging
Transcript: ENSMUST00000175889
AA Change: E789G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135629
Gene: ENSMUSG00000032827
AA Change: E789G

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 damaging
Transcript: ENSMUST00000176263
AA Change: E811G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134937
Gene: ENSMUSG00000032827
AA Change: E811G

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 damaging
Transcript: ENSMUST00000177153
AA Change: E789G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135485
Gene: ENSMUSG00000032827
AA Change: E789G

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 damaging
Transcript: ENSMUST00000177456
AA Change: E789G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000134943
Gene: ENSMUSG00000032827
AA Change: E789G

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 0.1088 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 100% (52/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik T C 7: 131,257,006 (GRCm38) probably null Het
Actbl2 G T 13: 111,255,381 (GRCm38) M83I probably damaging Het
Adgra2 T A 8: 27,114,162 (GRCm38) M460K probably benign Het
Aldh16a1 G A 7: 45,149,765 (GRCm38) A31V probably damaging Het
Ank2 T C 3: 126,946,938 (GRCm38) probably benign Het
Arrdc4 C A 7: 68,749,045 (GRCm38) D8Y probably benign Het
Auts2 A G 5: 131,466,115 (GRCm38) Y110H probably damaging Het
Blnk A T 19: 40,934,459 (GRCm38) Y405N probably damaging Het
Capsl T C 15: 9,461,769 (GRCm38) F84L probably damaging Het
Cenpl T C 1: 161,074,895 (GRCm38) S46P probably benign Het
Chd1l G A 3: 97,587,167 (GRCm38) A399V probably damaging Het
Chrnd C T 1: 87,192,229 (GRCm38) R90C probably damaging Het
Cyfip2 A T 11: 46,291,520 (GRCm38) M37K probably benign Het
Dnah11 T C 12: 118,142,292 (GRCm38) E625G possibly damaging Het
Dnah5 T G 15: 28,372,411 (GRCm38) V2936G probably damaging Het
Dock9 A G 14: 121,546,021 (GRCm38) M2055T probably damaging Het
Epb41l2 A T 10: 25,468,128 (GRCm38) R274S probably damaging Het
Erich3 A T 3: 154,727,502 (GRCm38) H371L probably damaging Het
Evi5l C A 8: 4,203,080 (GRCm38) P454T probably benign Het
Gm10549 C A 18: 33,464,305 (GRCm38) probably benign Het
Gm11595 G A 11: 99,772,555 (GRCm38) R100C unknown Het
Golgb1 T A 16: 36,918,197 (GRCm38) C2299* probably null Het
Heca G C 10: 17,915,243 (GRCm38) probably null Het
Hecw1 C T 13: 14,522,829 (GRCm38) A9T probably benign Het
Hs3st6 T A 17: 24,758,568 (GRCm38) W341R probably damaging Het
Kidins220 C T 12: 25,057,534 (GRCm38) S1571L probably benign Het
Klk9 A G 7: 43,794,308 (GRCm38) E82G probably damaging Het
Ltbp3 C A 19: 5,745,657 (GRCm38) H180Q probably benign Het
Mecom A G 3: 29,980,592 (GRCm38) Y502H probably damaging Het
Mfsd2a A G 4: 122,949,372 (GRCm38) V372A probably benign Het
Mrgprd A G 7: 145,322,142 (GRCm38) D250G probably benign Het
Muc2 A G 7: 141,700,828 (GRCm38) D191G probably benign Het
Myl10 G C 5: 136,697,971 (GRCm38) V70L probably benign Het
Naip6 C A 13: 100,300,401 (GRCm38) S538I probably benign Het
Olfr1312 A G 2: 112,042,768 (GRCm38) V88A probably benign Het
Olfr692 A G 7: 105,368,902 (GRCm38) Y192C probably damaging Het
Pnpla6 T C 8: 3,544,015 (GRCm38) V1342A probably benign Het
Prkdc A G 16: 15,714,919 (GRCm38) T1471A probably benign Het
Scarb1 T A 5: 125,304,331 (GRCm38) S50C probably damaging Het
Slc4a8 C T 15: 100,789,164 (GRCm38) T283M probably damaging Het
Smc2 C A 4: 52,462,814 (GRCm38) D601E probably benign Het
Snx6 C A 12: 54,752,013 (GRCm38) V221F probably damaging Het
Spag17 A C 3: 100,088,427 (GRCm38) K1794T probably benign Het
Tpo A G 12: 30,103,108 (GRCm38) W416R probably damaging Het
Ttc13 C A 8: 124,683,191 (GRCm38) K427N probably damaging Het
Upf3a A T 8: 13,787,466 (GRCm38) N137I possibly damaging Het
Ush2a C T 1: 188,849,046 (GRCm38) Q3708* probably null Het
Zbtb17 G A 4: 141,463,383 (GRCm38) G171S probably benign Het
Zfp451 A G 1: 33,813,735 (GRCm38) F33L probably damaging Het
Zfp454 A G 11: 50,873,049 (GRCm38) F408L probably damaging Het
Zfp639 T C 3: 32,517,088 (GRCm38) Y40H probably damaging Het
Other mutations in Ppp1r9a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00480:Ppp1r9a APN 6 5,158,195 (GRCm38) missense possibly damaging 0.72
IGL00796:Ppp1r9a APN 6 5,157,014 (GRCm38) missense probably benign 0.37
IGL00906:Ppp1r9a APN 6 5,157,023 (GRCm38) missense possibly damaging 0.62
IGL01662:Ppp1r9a APN 6 5,115,322 (GRCm38) missense probably damaging 1.00
IGL01695:Ppp1r9a APN 6 5,064,003 (GRCm38) missense probably damaging 1.00
IGL01807:Ppp1r9a APN 6 5,158,248 (GRCm38) nonsense probably null
IGL02126:Ppp1r9a APN 6 5,156,229 (GRCm38) missense probably damaging 1.00
IGL02423:Ppp1r9a APN 6 4,906,537 (GRCm38) missense probably benign 0.25
IGL03343:Ppp1r9a APN 6 5,046,015 (GRCm38) missense probably damaging 1.00
IGL03365:Ppp1r9a APN 6 5,110,993 (GRCm38) splice site probably benign
R0545:Ppp1r9a UTSW 6 5,115,357 (GRCm38) missense probably benign 0.45
R1126:Ppp1r9a UTSW 6 4,906,795 (GRCm38) missense possibly damaging 0.93
R1137:Ppp1r9a UTSW 6 5,159,697 (GRCm38) missense possibly damaging 0.46
R1443:Ppp1r9a UTSW 6 5,057,557 (GRCm38) missense probably damaging 1.00
R1484:Ppp1r9a UTSW 6 5,113,712 (GRCm38) nonsense probably null
R1545:Ppp1r9a UTSW 6 5,156,242 (GRCm38) critical splice donor site probably null
R1627:Ppp1r9a UTSW 6 4,906,168 (GRCm38) missense possibly damaging 0.50
R1672:Ppp1r9a UTSW 6 5,143,491 (GRCm38) critical splice donor site probably null
R1826:Ppp1r9a UTSW 6 5,111,060 (GRCm38) splice site probably benign
R1834:Ppp1r9a UTSW 6 5,113,710 (GRCm38) missense probably damaging 0.98
R1874:Ppp1r9a UTSW 6 4,906,348 (GRCm38) missense possibly damaging 0.87
R2224:Ppp1r9a UTSW 6 5,154,074 (GRCm38) missense probably benign
R2227:Ppp1r9a UTSW 6 5,154,074 (GRCm38) missense probably benign
R2898:Ppp1r9a UTSW 6 4,906,558 (GRCm38) missense probably benign 0.01
R3606:Ppp1r9a UTSW 6 5,113,674 (GRCm38) missense possibly damaging 0.90
R3732:Ppp1r9a UTSW 6 4,906,259 (GRCm38) unclassified probably benign
R3927:Ppp1r9a UTSW 6 5,057,531 (GRCm38) missense probably damaging 1.00
R4631:Ppp1r9a UTSW 6 4,906,537 (GRCm38) missense possibly damaging 0.62
R4682:Ppp1r9a UTSW 6 4,905,477 (GRCm38) missense possibly damaging 0.48
R4766:Ppp1r9a UTSW 6 5,157,016 (GRCm38) missense probably benign 0.11
R5197:Ppp1r9a UTSW 6 5,156,177 (GRCm38) missense probably damaging 1.00
R5217:Ppp1r9a UTSW 6 5,115,367 (GRCm38) missense probably damaging 1.00
R5493:Ppp1r9a UTSW 6 5,159,702 (GRCm38) missense probably damaging 0.99
R5790:Ppp1r9a UTSW 6 5,134,363 (GRCm38) intron probably benign
R5828:Ppp1r9a UTSW 6 5,158,200 (GRCm38) missense probably damaging 1.00
R5896:Ppp1r9a UTSW 6 5,159,648 (GRCm38) missense probably damaging 1.00
R5930:Ppp1r9a UTSW 6 5,157,002 (GRCm38) critical splice acceptor site probably null
R5990:Ppp1r9a UTSW 6 5,134,660 (GRCm38) missense probably benign 0.05
R6017:Ppp1r9a UTSW 6 4,906,363 (GRCm38) missense probably benign 0.18
R6122:Ppp1r9a UTSW 6 4,905,509 (GRCm38) missense probably damaging 1.00
R6164:Ppp1r9a UTSW 6 5,110,715 (GRCm38) intron probably benign
R6175:Ppp1r9a UTSW 6 4,905,639 (GRCm38) nonsense probably null
R6188:Ppp1r9a UTSW 6 5,158,113 (GRCm38) nonsense probably null
R6233:Ppp1r9a UTSW 6 5,077,610 (GRCm38) missense probably damaging 1.00
R6449:Ppp1r9a UTSW 6 5,057,458 (GRCm38) missense probably benign 0.44
R6454:Ppp1r9a UTSW 6 4,905,827 (GRCm38) missense probably damaging 1.00
R6527:Ppp1r9a UTSW 6 5,045,949 (GRCm38) missense probably damaging 1.00
R7053:Ppp1r9a UTSW 6 4,905,670 (GRCm38) missense probably damaging 1.00
R7233:Ppp1r9a UTSW 6 5,134,804 (GRCm38) missense probably benign
R7238:Ppp1r9a UTSW 6 5,159,716 (GRCm38) missense probably damaging 1.00
R7438:Ppp1r9a UTSW 6 5,115,378 (GRCm38) missense probably damaging 0.99
R7497:Ppp1r9a UTSW 6 4,905,775 (GRCm38) missense probably damaging 1.00
R7666:Ppp1r9a UTSW 6 5,143,238 (GRCm38) missense probably benign 0.00
R7698:Ppp1r9a UTSW 6 4,906,430 (GRCm38) missense probably benign
R7850:Ppp1r9a UTSW 6 4,905,894 (GRCm38) missense possibly damaging 0.77
R8029:Ppp1r9a UTSW 6 5,057,518 (GRCm38) missense possibly damaging 0.76
R8392:Ppp1r9a UTSW 6 5,143,491 (GRCm38) critical splice donor site probably null
R8411:Ppp1r9a UTSW 6 5,057,568 (GRCm38) missense probably damaging 1.00
R8431:Ppp1r9a UTSW 6 5,115,456 (GRCm38) missense probably benign 0.01
R8699:Ppp1r9a UTSW 6 5,115,474 (GRCm38) missense probably benign 0.00
R8708:Ppp1r9a UTSW 6 5,115,196 (GRCm38) missense probably damaging 1.00
R9039:Ppp1r9a UTSW 6 5,134,657 (GRCm38) missense probably benign 0.00
R9096:Ppp1r9a UTSW 6 4,906,012 (GRCm38) missense probably damaging 1.00
R9097:Ppp1r9a UTSW 6 4,906,012 (GRCm38) missense probably damaging 1.00
R9131:Ppp1r9a UTSW 6 5,134,106 (GRCm38) missense possibly damaging 0.86
R9279:Ppp1r9a UTSW 6 5,113,757 (GRCm38) missense probably damaging 1.00
R9512:Ppp1r9a UTSW 6 5,115,364 (GRCm38) missense probably damaging 0.99
R9512:Ppp1r9a UTSW 6 5,113,681 (GRCm38) missense probably benign 0.27
R9567:Ppp1r9a UTSW 6 5,157,004 (GRCm38) missense probably benign 0.34
R9672:Ppp1r9a UTSW 6 5,007,889 (GRCm38) missense unknown
R9687:Ppp1r9a UTSW 6 4,905,978 (GRCm38) missense probably damaging 1.00
R9715:Ppp1r9a UTSW 6 5,045,936 (GRCm38) missense probably damaging 0.96
RF007:Ppp1r9a UTSW 6 4,906,657 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCATGAGCTCTGGATGCAC -3'
(R):5'- AACCTGGGTCCCATTTTGC -3'

Sequencing Primer
(F):5'- AAAGATGTCTTTTCACTTGTTGCC -3'
(R):5'- TGCTTTAGTAGTCTGAACACCTC -3'
Posted On 2018-04-02