Incidental Mutation 'R3082:Ppp1r18'
ID 265506
Institutional Source Beutler Lab
Gene Symbol Ppp1r18
Ensembl Gene ENSMUSG00000034595
Gene Name protein phosphatase 1, regulatory subunit 18
Synonyms 2310014H01Rik
MMRRC Submission 040572-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # R3082 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 36176485-36186488 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36184742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 131 (D131G)
Ref Sequence ENSEMBL: ENSMUSP00000140652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113814] [ENSMUST00000122899] [ENSMUST00000127442] [ENSMUST00000144382] [ENSMUST00000187690] [ENSMUST00000190496]
AlphaFold Q8BQ30
Predicted Effect probably damaging
Transcript: ENSMUST00000113814
AA Change: D559G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109445
Gene: ENSMUSG00000034595
AA Change: D559G

DomainStartEndE-ValueType
Pfam:Phostensin_N 28 117 1.3e-42 PFAM
low complexity region 138 154 N/A INTRINSIC
low complexity region 353 365 N/A INTRINSIC
Pfam:Phostensin 417 541 7.7e-49 PFAM
low complexity region 560 573 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000122899
AA Change: D559G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120343
Gene: ENSMUSG00000034595
AA Change: D559G

DomainStartEndE-ValueType
Pfam:Phostensin_N 28 117 1.3e-42 PFAM
low complexity region 138 154 N/A INTRINSIC
low complexity region 353 365 N/A INTRINSIC
Pfam:Phostensin 417 541 7.7e-49 PFAM
low complexity region 560 573 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000127442
AA Change: D559G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115753
Gene: ENSMUSG00000034595
AA Change: D559G

DomainStartEndE-ValueType
Pfam:Phostensin_N 27 117 1.5e-39 PFAM
low complexity region 138 154 N/A INTRINSIC
low complexity region 353 365 N/A INTRINSIC
Pfam:Phostensin 417 540 6.9e-34 PFAM
low complexity region 560 573 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000144382
AA Change: D559G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116100
Gene: ENSMUSG00000034595
AA Change: D559G

DomainStartEndE-ValueType
Pfam:Phostensin_N 28 117 1.3e-42 PFAM
low complexity region 138 154 N/A INTRINSIC
low complexity region 353 365 N/A INTRINSIC
Pfam:Phostensin 417 541 7.7e-49 PFAM
low complexity region 560 573 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000187690
AA Change: D559G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141094
Gene: ENSMUSG00000034595
AA Change: D559G

DomainStartEndE-ValueType
Pfam:Phostensin_N 28 117 1.3e-42 PFAM
low complexity region 138 154 N/A INTRINSIC
low complexity region 353 365 N/A INTRINSIC
Pfam:Phostensin 417 541 7.7e-49 PFAM
low complexity region 560 573 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000190496
AA Change: D131G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140652
Gene: ENSMUSG00000034595
AA Change: D131G

DomainStartEndE-ValueType
Pfam:Phostensin 1 113 3.6e-43 PFAM
low complexity region 132 145 N/A INTRINSIC
Meta Mutation Damage Score 0.0868 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (44/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein phosphatase-1 (PP1; see MIM 176875) interacts with regulatory subunits that target the enzyme to different cellular locations and change its activity toward specific substrates. Phostensin is a regulatory subunit that targets PP1 to F-actin (see MIM 102610) cytoskeleton (Kao et al., 2007 [PubMed 17374523]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 A G 10: 106,859,576 (GRCm39) V341A possibly damaging Het
Adam11 T C 11: 102,660,943 (GRCm39) probably benign Het
Aox1 G T 1: 58,322,759 (GRCm39) probably benign Het
Cdh6 T C 15: 13,044,838 (GRCm39) D428G probably damaging Het
Cep63 T C 9: 102,479,696 (GRCm39) T339A probably benign Het
Clcn1 T C 6: 42,267,112 (GRCm39) Y66H probably damaging Het
Cpsf2 C G 12: 101,955,069 (GRCm39) S280C probably damaging Het
Dcaf6 G T 1: 165,250,421 (GRCm39) probably benign Het
Ddx39a T A 8: 84,449,335 (GRCm39) N344K possibly damaging Het
Dvl1 T C 4: 155,932,316 (GRCm39) V42A possibly damaging Het
Ep400 A G 5: 110,841,096 (GRCm39) probably benign Het
Epb41l5 C T 1: 119,536,992 (GRCm39) V300I probably damaging Het
Fbln1 T G 15: 85,149,454 (GRCm39) I617S probably benign Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Grin3a G A 4: 49,665,243 (GRCm39) R1131W probably benign Het
Incenp T A 19: 9,861,143 (GRCm39) M480L unknown Het
Ints13 G T 6: 146,476,205 (GRCm39) Q99K possibly damaging Het
L2hgdh C T 12: 69,768,858 (GRCm39) D85N probably benign Het
Lct A G 1: 128,215,345 (GRCm39) Y1744H probably damaging Het
Macf1 T C 4: 123,255,236 (GRCm39) probably null Het
Mpdz A T 4: 81,203,695 (GRCm39) probably benign Het
Naa15 T C 3: 51,367,471 (GRCm39) L498P probably damaging Het
Naip6 T A 13: 100,452,925 (GRCm39) E45D probably benign Het
Nedd4l T A 18: 65,312,049 (GRCm39) N405K probably benign Het
Or4l15 A G 14: 50,198,161 (GRCm39) Y123H probably damaging Het
Or8u10 C T 2: 85,916,053 (GRCm39) V23I probably benign Het
Pitpnc1 A G 11: 107,103,350 (GRCm39) S250P possibly damaging Het
Prdm5 A G 6: 65,913,069 (GRCm39) D206G probably damaging Het
Pygl A G 12: 70,244,303 (GRCm39) F455S probably damaging Het
Rictor A T 15: 6,804,338 (GRCm39) Y565F probably benign Het
Ryr1 T C 7: 28,745,071 (GRCm39) N3852D probably damaging Het
S1pr5 A T 9: 21,156,286 (GRCm39) C47S probably damaging Het
Serpinf2 T C 11: 75,328,354 (GRCm39) R65G probably benign Het
Slfn14 C T 11: 83,167,519 (GRCm39) W665* probably null Het
Smu1 T C 4: 40,745,567 (GRCm39) D251G probably damaging Het
Spata18 A G 5: 73,836,423 (GRCm39) probably benign Het
Tex19.2 A G 11: 121,007,557 (GRCm39) V297A probably benign Het
Tmem131l A G 3: 83,816,457 (GRCm39) probably null Het
Trim9 T C 12: 70,301,887 (GRCm39) R584G possibly damaging Het
Trpm7 A T 2: 126,686,342 (GRCm39) N295K possibly damaging Het
Ugt2a3 A G 5: 87,473,534 (GRCm39) V461A probably benign Het
Vmn1r45 A T 6: 89,910,724 (GRCm39) M82K probably benign Het
Other mutations in Ppp1r18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02285:Ppp1r18 APN 17 36,178,148 (GRCm39) missense probably damaging 1.00
IGL03188:Ppp1r18 APN 17 36,178,857 (GRCm39) missense possibly damaging 0.94
IGL03339:Ppp1r18 APN 17 36,178,938 (GRCm39) missense probably benign 0.00
R0098:Ppp1r18 UTSW 17 36,178,888 (GRCm39) missense probably benign 0.31
R0098:Ppp1r18 UTSW 17 36,178,888 (GRCm39) missense probably benign 0.31
R0310:Ppp1r18 UTSW 17 36,184,603 (GRCm39) splice site probably benign
R1569:Ppp1r18 UTSW 17 36,179,595 (GRCm39) missense probably damaging 1.00
R1903:Ppp1r18 UTSW 17 36,184,738 (GRCm39) missense probably damaging 0.98
R3038:Ppp1r18 UTSW 17 36,179,274 (GRCm39) missense probably damaging 1.00
R4513:Ppp1r18 UTSW 17 36,179,196 (GRCm39) missense probably damaging 0.98
R5301:Ppp1r18 UTSW 17 36,179,237 (GRCm39) missense probably benign 0.00
R5415:Ppp1r18 UTSW 17 36,178,511 (GRCm39) missense probably benign 0.00
R5482:Ppp1r18 UTSW 17 36,184,771 (GRCm39) missense probably damaging 1.00
R5707:Ppp1r18 UTSW 17 36,178,128 (GRCm39) start codon destroyed probably null 0.99
R6235:Ppp1r18 UTSW 17 36,184,769 (GRCm39) missense probably damaging 1.00
R7062:Ppp1r18 UTSW 17 36,179,103 (GRCm39) missense probably damaging 0.99
R7620:Ppp1r18 UTSW 17 36,178,191 (GRCm39) missense probably benign 0.03
R7767:Ppp1r18 UTSW 17 36,178,176 (GRCm39) missense probably damaging 1.00
R7993:Ppp1r18 UTSW 17 36,184,718 (GRCm39) missense probably benign
R8736:Ppp1r18 UTSW 17 36,184,711 (GRCm39) missense probably benign
R9416:Ppp1r18 UTSW 17 36,184,743 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- GGTCCCCTAGTAATGAACTTTCC -3'
(R):5'- ACGAGGGAGCTCTGGTTTTC -3'

Sequencing Primer
(F):5'- AGTAATGAACTTTCCTCCTCTCC -3'
(R):5'- CAAATCTGGAGATCCCATGTGTAC -3'
Posted On 2015-02-05