Incidental Mutation 'IGL02739:Ppp1r42'
ID 305790
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp1r42
Ensembl Gene ENSMUSG00000025916
Gene Name protein phosphatase 1, regulatory subunit 42
Synonyms 1700011J18Rik, 4930418G15Rik, Lrrc67
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02739
Quality Score
Status
Chromosome 1
Chromosomal Location 10038849-10079361 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 10039078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 347 (K347N)
Ref Sequence ENSEMBL: ENSMUSP00000027049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027049] [ENSMUST00000124874] [ENSMUST00000130102] [ENSMUST00000185184]
AlphaFold Q8R1Z4
Predicted Effect probably benign
Transcript: ENSMUST00000027049
AA Change: K347N

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000027049
Gene: ENSMUSG00000025916
AA Change: K347N

DomainStartEndE-ValueType
Pfam:LRR_8 50 106 2.5e-8 PFAM
Pfam:LRR_4 72 114 2.3e-11 PFAM
low complexity region 146 164 N/A INTRINSIC
low complexity region 184 201 N/A INTRINSIC
low complexity region 243 259 N/A INTRINSIC
low complexity region 323 332 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124874
SMART Domains Protein: ENSMUSP00000115309
Gene: ENSMUSG00000025916

DomainStartEndE-ValueType
Pfam:LRR_8 50 106 2e-8 PFAM
Pfam:LRR_6 71 94 5.9e-3 PFAM
Pfam:LRR_4 72 117 3.8e-11 PFAM
Pfam:LRR_8 72 128 1.3e-8 PFAM
Pfam:LRR_1 73 93 3.4e-3 PFAM
Pfam:LRR_6 145 172 2.2e-3 PFAM
low complexity region 184 201 N/A INTRINSIC
low complexity region 243 259 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130102
SMART Domains Protein: ENSMUSP00000115030
Gene: ENSMUSG00000025916

DomainStartEndE-ValueType
Pfam:LRR_6 49 68 4.4e-2 PFAM
Pfam:LRR_8 50 106 2.3e-8 PFAM
Pfam:LRR_6 71 95 6.8e-3 PFAM
Pfam:LRR_4 72 116 6.9e-11 PFAM
Pfam:LRR_8 72 128 1.5e-8 PFAM
Pfam:LRR_1 73 93 5.1e-3 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147000
Predicted Effect probably benign
Transcript: ENSMUST00000185184
SMART Domains Protein: ENSMUSP00000138827
Gene: ENSMUSG00000099032

DomainStartEndE-ValueType
low complexity region 3 23 N/A INTRINSIC
HLH 54 106 1.49e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192299
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene can interact with gamma-tubulin and PP1 phosphatase, a regulator of centrosome separation. The encoded protein is a positive regulator of PP1 phosphatase and thus plays a role in the control of centrosome integrity. [provided by RefSeq, Feb 2017]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 77,026,364 (GRCm39) C887S possibly damaging Het
Adamdec1 C A 14: 68,807,605 (GRCm39) E352* probably null Het
Bglap2 A T 3: 88,285,319 (GRCm39) probably null Het
Bsn A T 9: 107,989,745 (GRCm39) H2002Q probably benign Het
Chtop T A 3: 90,409,557 (GRCm39) Q165L possibly damaging Het
Clcn1 A T 6: 42,263,714 (GRCm39) probably null Het
Ctsr T C 13: 61,309,658 (GRCm39) T184A probably benign Het
Defb36 T C 2: 152,446,439 (GRCm39) L11P unknown Het
Dock8 A G 19: 25,165,852 (GRCm39) E1912G probably damaging Het
Dpp3 A G 19: 4,973,756 (GRCm39) Y106H probably damaging Het
Epas1 A G 17: 87,112,710 (GRCm39) T103A probably damaging Het
Epcam A T 17: 87,947,922 (GRCm39) T131S probably benign Het
Fam169a A G 13: 97,230,563 (GRCm39) probably benign Het
Gh T A 11: 106,192,559 (GRCm39) probably benign Het
Kif20a A T 18: 34,761,996 (GRCm39) K399* probably null Het
Lrp1b A G 2: 41,388,227 (GRCm39) I466T probably damaging Het
Nlk A G 11: 78,465,677 (GRCm39) V409A probably benign Het
Nomo1 A G 7: 45,693,731 (GRCm39) probably null Het
Nr2c1 T A 10: 93,992,834 (GRCm39) M16K probably damaging Het
Nxph2 A T 2: 23,289,912 (GRCm39) Q88L probably benign Het
Or51a39 A G 7: 102,363,521 (GRCm39) I33T possibly damaging Het
Pkdrej T A 15: 85,703,895 (GRCm39) R680S probably benign Het
Pkhd1l1 A T 15: 44,404,346 (GRCm39) N2325I probably benign Het
Pnliprp2 T C 19: 58,748,941 (GRCm39) probably null Het
Prtg T C 9: 72,758,867 (GRCm39) V407A possibly damaging Het
Psmb8 C A 17: 34,419,728 (GRCm39) S194* probably null Het
Rnf214 T C 9: 45,780,772 (GRCm39) I406V probably benign Het
Rreb1 C T 13: 38,077,797 (GRCm39) S3L probably damaging Het
Sdad1 C T 5: 92,437,931 (GRCm39) A539T probably benign Het
Sema3a A G 5: 13,501,128 (GRCm39) Y57C probably damaging Het
Susd5 A G 9: 113,925,101 (GRCm39) E328G possibly damaging Het
Syngr3 T C 17: 24,905,372 (GRCm39) T175A probably damaging Het
Tcf20 T A 15: 82,740,281 (GRCm39) Q390L probably damaging Het
Tex15 A G 8: 34,071,721 (GRCm39) T2423A possibly damaging Het
Tlr1 T C 5: 65,084,469 (GRCm39) N36S probably benign Het
Uchl4 C T 9: 64,142,819 (GRCm39) T100M probably damaging Het
Uhrf1 A G 17: 56,612,129 (GRCm39) K11R probably benign Het
Vps13b T A 15: 35,880,046 (GRCm39) D3040E probably damaging Het
Wdr62 A T 7: 29,941,885 (GRCm39) Y640* probably null Het
Zkscan17 T G 11: 59,394,352 (GRCm39) E83A probably damaging Het
Other mutations in Ppp1r42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01469:Ppp1r42 APN 1 10,073,458 (GRCm39) critical splice donor site probably null
G1patch:Ppp1r42 UTSW 1 10,069,732 (GRCm39) missense probably damaging 1.00
R0920:Ppp1r42 UTSW 1 10,069,750 (GRCm39) missense probably damaging 1.00
R1829:Ppp1r42 UTSW 1 10,070,311 (GRCm39) missense probably benign 0.00
R2151:Ppp1r42 UTSW 1 10,073,572 (GRCm39) missense probably benign 0.10
R2909:Ppp1r42 UTSW 1 10,073,637 (GRCm39) intron probably benign
R4828:Ppp1r42 UTSW 1 10,069,636 (GRCm39) missense probably benign
R4863:Ppp1r42 UTSW 1 10,073,611 (GRCm39) intron probably benign
R5384:Ppp1r42 UTSW 1 10,069,660 (GRCm39) missense probably damaging 1.00
R5394:Ppp1r42 UTSW 1 10,069,630 (GRCm39) missense probably damaging 1.00
R6725:Ppp1r42 UTSW 1 10,069,732 (GRCm39) missense probably damaging 1.00
R7343:Ppp1r42 UTSW 1 10,039,082 (GRCm39) missense probably benign
R7556:Ppp1r42 UTSW 1 10,065,408 (GRCm39) missense probably benign 0.01
R8722:Ppp1r42 UTSW 1 10,055,894 (GRCm39) missense probably benign 0.15
R9477:Ppp1r42 UTSW 1 10,055,854 (GRCm39) missense probably damaging 1.00
R9612:Ppp1r42 UTSW 1 10,039,067 (GRCm39) missense possibly damaging 0.79
R9668:Ppp1r42 UTSW 1 10,073,563 (GRCm39) missense probably benign 0.42
R9752:Ppp1r42 UTSW 1 10,073,674 (GRCm39) intron probably benign
Z1177:Ppp1r42 UTSW 1 10,069,652 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16