Incidental Mutation 'IGL03224:Ppp1r3f'
ID413747
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp1r3f
Ensembl Gene ENSMUSG00000039556
Gene Nameprotein phosphatase 1, regulatory (inhibitor) subunit 3F
SynonymsDXImx48e, RF3, Sfc15
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.031) question?
Stock #IGL03224
Quality Score
Status
ChromosomeX
Chromosomal Location7557296-7574283 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 7560582 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 480 (V480A)
Ref Sequence ENSEMBL: ENSMUSP00000122903 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115742] [ENSMUST00000150787]
Predicted Effect probably benign
Transcript: ENSMUST00000115742
AA Change: V479A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000111407
Gene: ENSMUSG00000039556
AA Change: V479A

DomainStartEndE-ValueType
low complexity region 9 37 N/A INTRINSIC
low complexity region 66 96 N/A INTRINSIC
Pfam:CBM_21 147 283 5.6e-30 PFAM
low complexity region 296 316 N/A INTRINSIC
low complexity region 330 343 N/A INTRINSIC
low complexity region 569 580 N/A INTRINSIC
low complexity region 585 599 N/A INTRINSIC
transmembrane domain 776 798 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123090
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126170
Predicted Effect unknown
Transcript: ENSMUST00000132788
AA Change: V158A
SMART Domains Protein: ENSMUSP00000116002
Gene: ENSMUSG00000039556
AA Change: V158A

DomainStartEndE-ValueType
low complexity region 249 260 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142447
Predicted Effect probably benign
Transcript: ENSMUST00000150787
AA Change: V480A

PolyPhen 2 Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000122903
Gene: ENSMUSG00000039556
AA Change: V480A

DomainStartEndE-ValueType
low complexity region 9 37 N/A INTRINSIC
low complexity region 66 96 N/A INTRINSIC
Pfam:CBM_21 149 283 1.3e-29 PFAM
low complexity region 296 316 N/A INTRINSIC
low complexity region 330 343 N/A INTRINSIC
low complexity region 570 581 N/A INTRINSIC
low complexity region 586 600 N/A INTRINSIC
transmembrane domain 777 799 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that has been identified as one of several type-1 protein phosphatase (PP1) regulatory subunits. One or two of these subunits, together with the well-conserved catalytic subunit, can form the PP1 holoenzyme, where the regulatory subunit functions to regulate substrate specificity and/or targeting to a particular cellular compartment. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624J02Rik A G 7: 118,792,553 probably benign Het
Ash1l T C 3: 89,035,268 probably benign Het
Capn10 T G 1: 92,939,324 V92G probably damaging Het
Cntn2 A G 1: 132,523,042 C532R probably damaging Het
Csf1r T C 18: 61,112,062 F233L probably damaging Het
Cts6 T C 13: 61,201,733 D82G probably damaging Het
Cym T C 3: 107,218,732 S72G possibly damaging Het
Cyp4a29 T A 4: 115,247,050 M105K probably damaging Het
Dhx35 T C 2: 158,857,132 probably benign Het
Dnah5 C A 15: 28,459,154 D4506E probably damaging Het
Dok5 T C 2: 170,832,887 F139L possibly damaging Het
Dync2h1 T C 9: 7,076,235 D2974G probably benign Het
Frem3 C T 8: 80,613,463 T795I probably damaging Het
Ints6l A G X: 56,497,927 T525A probably damaging Het
Lrp1b T C 2: 41,471,031 T587A possibly damaging Het
Meikin A G 11: 54,398,460 M220V probably benign Het
Mmp12 T A 9: 7,350,002 probably benign Het
Mpp7 T C 18: 7,403,269 D347G probably benign Het
Myo3b A G 2: 70,349,939 Y1190C probably benign Het
Myo5c A G 9: 75,278,243 K963E probably benign Het
Nipbl T C 15: 8,293,085 D2614G probably damaging Het
Prkcb A T 7: 122,516,924 K209* probably null Het
Rasgef1a A G 6: 118,089,806 probably benign Het
Ryr3 A T 2: 112,954,336 C233* probably null Het
Scn8a A G 15: 101,035,639 R1534G probably damaging Het
Slitrk3 A T 3: 73,049,930 L503H possibly damaging Het
Spag17 A G 3: 100,010,840 K380E possibly damaging Het
Spata31d1a A G 13: 59,701,026 V1096A possibly damaging Het
Synrg C T 11: 84,039,666 T1278M possibly damaging Het
Teddm1a G T 1: 153,892,017 V76F possibly damaging Het
Troap A G 15: 99,081,877 T365A probably benign Het
Other mutations in Ppp1r3f
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4449:Ppp1r3f UTSW X 7560336 missense probably damaging 1.00
FR4548:Ppp1r3f UTSW X 7560336 missense probably damaging 1.00
FR4737:Ppp1r3f UTSW X 7560336 missense probably damaging 1.00
FR4976:Ppp1r3f UTSW X 7560336 missense probably damaging 1.00
LCD18:Ppp1r3f UTSW X 7560336 missense probably damaging 1.00
R1446:Ppp1r3f UTSW X 7560363 missense probably damaging 1.00
Posted On2016-08-02