Incidental Mutation 'R5896:Ppp1r9a'
ID 457511
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 044095-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.499) question?
Stock # R5896 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 4902917-5165661 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5159648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 1062 (K1062E)
Ref Sequence ENSEMBL: ENSMUSP00000046906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035813] [ENSMUST00000175889] [ENSMUST00000176263] [ENSMUST00000177153] [ENSMUST00000177456]
AlphaFold H3BJD6
Predicted Effect probably damaging
Transcript: ENSMUST00000035813
AA Change: K1062E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046906
Gene: ENSMUSG00000032827
AA Change: K1062E

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 benign
Transcript: ENSMUST00000175889
SMART Domains Protein: ENSMUSP00000135629
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
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: 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 damaging
Transcript: ENSMUST00000177456
AA Change: K1259E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134943
Gene: ENSMUSG00000032827
AA Change: K1259E

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 0.0885 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.3%
  • 20x: 91.5%
Validation Efficiency 99% (86/87)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik A T 16: 88,504,321 (GRCm39) S159T probably damaging Het
2610028H24Rik T A 10: 76,288,664 (GRCm39) M53K probably benign Het
3425401B19Rik G A 14: 32,383,632 (GRCm39) Q778* probably null Het
Abhd16a T A 17: 35,310,701 (GRCm39) probably benign Het
Acp6 A G 3: 97,075,810 (GRCm39) K226R probably benign Het
Ankfy1 A G 11: 72,650,811 (GRCm39) D998G probably damaging Het
Apbb1 G T 7: 105,223,432 (GRCm39) P60T probably damaging Het
Apol9a T A 15: 77,288,705 (GRCm39) I221F probably benign Het
Arhgap29 A G 3: 121,805,736 (GRCm39) E947G possibly damaging Het
B430218F22Rik A T 13: 118,523,934 (GRCm39) probably benign Het
Carmil3 ACCCCC ACCCCCCC 14: 55,741,456 (GRCm39) probably null Het
Ccdc69 C T 11: 54,943,716 (GRCm39) probably null Het
Ccdc93 G T 1: 121,390,849 (GRCm39) V274L possibly damaging Het
Cdc25a A G 9: 109,713,433 (GRCm39) D191G probably benign Het
Cimip2a A T 2: 25,110,578 (GRCm39) M129L probably benign Het
Cmya5 A G 13: 93,182,373 (GRCm39) probably null Het
Crebzf TGGAGGAGGAGGAGGAGGA TGGAGGAGGAGGAGGA 7: 90,092,479 (GRCm39) probably benign Het
Csde1 T C 3: 102,947,859 (GRCm39) probably benign Het
Ctdp1 A G 18: 80,502,003 (GRCm39) L177P probably damaging Het
Dnah5 T A 15: 28,272,206 (GRCm39) H1003Q probably benign Het
Epb41l2 T A 10: 25,369,494 (GRCm39) N604K probably damaging Het
Fig4 T A 10: 41,130,881 (GRCm39) N465Y possibly damaging Het
Gemin7 G A 7: 19,299,223 (GRCm39) S124F probably damaging Het
Gli3 G A 13: 15,900,765 (GRCm39) R1384K probably benign Het
Gm12258 G A 11: 58,750,457 (GRCm39) C544Y probably damaging Het
Grm1 C T 10: 10,956,294 (GRCm39) probably benign Het
H2-T15 T A 17: 36,367,236 (GRCm39) M329L probably benign Het
Hps4 C T 5: 112,517,351 (GRCm39) T246I probably benign Het
Ifngr2 A T 16: 91,358,653 (GRCm39) E284D possibly damaging Het
Impdh2 A G 9: 108,441,165 (GRCm39) T148A probably benign Het
Irx3 T C 8: 92,527,763 (GRCm39) S36G probably benign Het
Itga5 T A 15: 103,259,514 (GRCm39) K667N probably benign Het
Itgad G A 7: 127,773,188 (GRCm39) C15Y probably benign Het
Ly75 T G 2: 60,213,490 (GRCm39) E29A probably benign Het
Magi1 T A 6: 93,685,180 (GRCm39) S506C probably damaging Het
Map4 G A 9: 109,901,702 (GRCm39) V781M possibly damaging Het
Med23 T C 10: 24,778,043 (GRCm39) L797P probably damaging Het
Naip1 C T 13: 100,559,636 (GRCm39) G1123R probably benign Het
Ncor1 G T 11: 62,274,016 (GRCm39) P55Q probably damaging Het
Odr4 A T 1: 150,256,111 (GRCm39) N211K probably benign Het
Ofcc1 T A 13: 40,334,060 (GRCm39) I344F probably benign Het
Or4a74 C A 2: 89,439,667 (GRCm39) V260F probably damaging Het
Or4d5 A T 9: 40,012,189 (GRCm39) M199K probably damaging Het
Or5d35 A G 2: 87,855,465 (GRCm39) Y133C probably damaging Het
Or5k1 G A 16: 58,618,095 (GRCm39) T38I probably damaging Het
Otub2 C T 12: 103,369,687 (GRCm39) probably benign Het
Parva A G 7: 112,143,960 (GRCm39) M83V probably benign Het
Pcdha8 T A 18: 37,126,572 (GRCm39) N351K probably benign Het
Pcdhb5 T A 18: 37,455,732 (GRCm39) L704* probably null Het
Pkd1l3 T A 8: 110,353,468 (GRCm39) L683H probably damaging Het
Plekhn1 C T 4: 156,308,331 (GRCm39) R288H probably benign Het
Polr2a A T 11: 69,627,086 (GRCm39) N1457K probably damaging Het
Ppp1r12b A G 1: 134,693,719 (GRCm39) S981P probably damaging Het
Ptpre A T 7: 135,276,007 (GRCm39) T498S probably benign Het
Pus7l C T 15: 94,427,332 (GRCm39) probably null Het
Rptn C T 3: 93,305,639 (GRCm39) Q991* probably null Het
Rsu1 T G 2: 13,229,170 (GRCm39) E76A probably damaging Het
Septin11 T A 5: 93,304,824 (GRCm39) F214I probably damaging Het
Slc1a7 G T 4: 107,869,587 (GRCm39) A551S probably benign Het
Slc45a2 T A 15: 11,000,941 (GRCm39) Y13* probably null Het
Slc7a14 T G 3: 31,311,719 (GRCm39) L100F probably damaging Het
Slit3 A G 11: 35,598,932 (GRCm39) E1512G probably damaging Het
Stat5a A G 11: 100,767,883 (GRCm39) Q458R possibly damaging Het
Svep1 T C 4: 58,084,906 (GRCm39) T1811A possibly damaging Het
Tarbp1 A G 8: 127,179,667 (GRCm39) F624L probably benign Het
Tfeb T G 17: 48,070,433 (GRCm39) probably null Het
Tnxb G A 17: 34,891,126 (GRCm39) G490R probably damaging Het
Tra2b T C 16: 22,077,953 (GRCm39) Y32C probably damaging Het
Trpv4 C T 5: 114,760,708 (GRCm39) probably benign Het
Uvrag A T 7: 98,637,414 (GRCm39) L138* probably null Het
Vwf A T 6: 125,655,725 (GRCm39) probably null Het
Wdr47 G A 3: 108,526,322 (GRCm39) D282N probably damaging Het
Xirp2 A G 2: 67,340,290 (GRCm39) N844D possibly damaging Het
Xirp2 A G 2: 67,339,042 (GRCm39) M428V probably benign Het
Znfx1 G A 2: 166,880,920 (GRCm39) T288I 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
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'- AACATAGTGTGGTGGTTTCCTC -3'
(R):5'- CCGCCTACAATGGTGTTATCCC -3'

Sequencing Primer
(F):5'- GTGGTGGTTTCCTCATCATAAAC -3'
(R):5'- ACAATGGTGTTATCCCATCAATTTC -3'
Posted On 2017-02-15