Incidental Mutation 'R5482:Ppp1r18'
ID 434408
Institutional Source Beutler Lab
Gene Symbol Ppp1r18
Ensembl Gene ENSMUSG00000034595
Gene Name protein phosphatase 1, regulatory subunit 18
Synonyms 2310014H01Rik
MMRRC Submission 043043-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # R5482 (G1)
Quality Score 137
Status Validated
Chromosome 17
Chromosomal Location 36176485-36186488 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 36184771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 141 (E141K)
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: E569K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109445
Gene: ENSMUSG00000034595
AA Change: E569K

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: E569K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120343
Gene: ENSMUSG00000034595
AA Change: E569K

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: E569K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115753
Gene: ENSMUSG00000034595
AA Change: E569K

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: E569K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116100
Gene: ENSMUSG00000034595
AA Change: E569K

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: E569K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141094
Gene: ENSMUSG00000034595
AA Change: E569K

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: E141K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140652
Gene: ENSMUSG00000034595
AA Change: E141K

DomainStartEndE-ValueType
Pfam:Phostensin 1 113 3.6e-43 PFAM
low complexity region 132 145 N/A INTRINSIC
Meta Mutation Damage Score 0.1060 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.4%
  • 10x: 94.5%
  • 20x: 87.6%
Validation Efficiency 99% (68/69)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230109A22Rik T C 15: 25,139,036 (GRCm39) noncoding transcript Het
Abca15 T C 7: 119,968,370 (GRCm39) L801P probably damaging Het
Acap3 A G 4: 155,984,613 (GRCm39) D212G probably benign Het
Acsl6 G A 11: 54,217,964 (GRCm39) D166N probably damaging Het
Acy1 T C 9: 106,311,838 (GRCm39) probably benign Het
Adgrl3 A G 5: 81,942,360 (GRCm39) N1368S probably damaging Het
Akap5 T C 12: 76,375,600 (GRCm39) I344T probably benign Het
Aplp1 A G 7: 30,139,600 (GRCm39) F399S probably damaging Het
Arap3 A G 18: 38,107,727 (GRCm39) S1302P possibly damaging Het
Bik T G 15: 83,428,335 (GRCm39) V121G probably damaging Het
Birc6 A T 17: 74,948,777 (GRCm39) M3069L possibly damaging Het
Birc6 A G 17: 74,969,685 (GRCm39) T4237A probably damaging Het
Btn2a2 T C 13: 23,670,557 (GRCm39) N59D probably benign Het
Cabyr A G 18: 12,884,496 (GRCm39) S328G possibly damaging Het
Cfap57 C T 4: 118,426,838 (GRCm39) G1067R probably benign Het
Cryl1 A T 14: 57,550,469 (GRCm39) F132I probably damaging Het
Dipk1a C G 5: 108,057,529 (GRCm39) C343S probably damaging Het
Dnah8 G A 17: 31,019,521 (GRCm39) E3865K probably damaging Het
Dock3 G A 9: 106,855,937 (GRCm39) R741* probably null Het
Fsip2 C T 2: 82,815,654 (GRCm39) L3796F possibly damaging Het
Gm10722 A C 9: 3,001,041 (GRCm39) Y39S probably benign Het
Gm5535 C A 2: 144,016,492 (GRCm39) noncoding transcript Het
Gmcl1 A T 6: 86,695,055 (GRCm39) M202K probably damaging Het
Hecw2 T A 1: 53,965,360 (GRCm39) M489L probably benign Het
Lrrk1 A G 7: 65,980,418 (GRCm39) I254T probably benign Het
Lrrn3 G A 12: 41,502,386 (GRCm39) L644F probably benign Het
Lrrn3 A C 12: 41,502,387 (GRCm39) C643W probably damaging Het
Nr2f6 A T 8: 71,827,182 (GRCm39) I373N probably damaging Het
Nt5dc3 A G 10: 86,647,395 (GRCm39) Y130C probably damaging Het
Or5b12 T C 19: 12,897,269 (GRCm39) T135A probably damaging Het
Or6c3 T C 10: 129,308,947 (GRCm39) Y129H probably benign Het
Otogl T A 10: 107,657,802 (GRCm39) I1043F probably damaging Het
Padi3 G A 4: 140,523,154 (GRCm39) T302I probably damaging Het
Pcdhgb5 A G 18: 37,864,585 (GRCm39) N127D probably damaging Het
Pign A G 1: 105,474,435 (GRCm39) F876L probably benign Het
Pip5k1c A G 10: 81,128,897 (GRCm39) E2G probably damaging Het
Ralbp1 A C 17: 66,168,563 (GRCm39) Y247* probably null Het
Ripply2 A G 9: 86,897,620 (GRCm39) E8G possibly damaging Het
Rufy3 TAAGCA TA 5: 88,785,191 (GRCm39) probably null Het
Skint2 T G 4: 112,483,076 (GRCm39) C160W probably damaging Het
Sun2 C T 15: 79,621,712 (GRCm39) R172Q probably benign Het
Syna A G 5: 134,588,028 (GRCm39) L307P possibly damaging Het
Tlcd3b A G 7: 126,426,660 (GRCm39) T78A possibly damaging Het
Trappc12 T C 12: 28,741,324 (GRCm39) K795R probably damaging Het
Trmt9b A T 8: 36,979,203 (GRCm39) M269L probably benign Het
Ttll11 A G 2: 35,642,418 (GRCm39) S638P probably damaging Het
Usp2 G A 9: 44,000,480 (GRCm39) probably null Het
Vmn2r26 A T 6: 124,038,285 (GRCm39) E620V possibly damaging Het
Wdr36 A T 18: 32,974,957 (GRCm39) H103L probably benign Het
Wnt5b T C 6: 119,423,392 (GRCm39) T78A probably benign Het
Zc2hc1b C T 10: 13,029,270 (GRCm39) R146Q probably damaging 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
R3082:Ppp1r18 UTSW 17 36,184,742 (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
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 2016-10-06