Incidental Mutation 'R8341:Ppp1r7'
ID 644869
Institutional Source Beutler Lab
Gene Symbol Ppp1r7
Ensembl Gene ENSMUSG00000026275
Gene Name protein phosphatase 1, regulatory subunit 7
Synonyms SDS22, 2310014J01Rik
MMRRC Submission 067865-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.932) question?
Stock # R8341 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 93271350-93295344 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 93274000 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 59 (D59N)
Ref Sequence ENSEMBL: ENSMUSP00000027494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027493] [ENSMUST00000027494] [ENSMUST00000128253] [ENSMUST00000185498]
AlphaFold Q3UM45
Predicted Effect probably benign
Transcript: ENSMUST00000027493
SMART Domains Protein: ENSMUSP00000027493
Gene: ENSMUSG00000026274

DomainStartEndE-ValueType
PAS 119 186 3.87e-8 SMART
PAS 333 400 3.08e-2 SMART
low complexity region 907 918 N/A INTRINSIC
low complexity region 1043 1054 N/A INTRINSIC
S_TKc 1059 1311 8.16e-79 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000027494
AA Change: D59N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027494
Gene: ENSMUSG00000026275
AA Change: D59N

DomainStartEndE-ValueType
low complexity region 23 39 N/A INTRINSIC
LRR 98 119 1.32e-5 SMART
LRR 120 141 4.37e-6 SMART
LRR 142 163 6.42e-4 SMART
LRR 164 185 9.73e-4 SMART
LRR 186 207 3.74e-5 SMART
LRR 208 229 4.68e-6 SMART
LRR 230 251 1.04e-3 SMART
LRR 252 273 1.98e-4 SMART
LRR 274 295 2.01e-5 SMART
LRR 296 317 1.45e-2 SMART
LRRcap 337 355 2.67e-4 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000124279
Gene: ENSMUSG00000026275
AA Change: D43N

DomainStartEndE-ValueType
low complexity region 1 24 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128253
Predicted Effect probably benign
Transcript: ENSMUST00000185498
SMART Domains Protein: ENSMUSP00000140544
Gene: ENSMUSG00000026275

DomainStartEndE-ValueType
low complexity region 9 19 N/A INTRINSIC
LRR 54 75 5.6e-8 SMART
LRR 76 97 1.9e-8 SMART
LRR 98 119 2.6e-6 SMART
LRR 120 141 4.1e-6 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (57/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein subunit that regulates the activity of the serine/threonine phosphatase, protein phosphatase-1. The encoded protein is required for completion of the mitotic cycle and for targeting protein phosphatase-1 to mitotic kinetochores. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,845,876 (GRCm39) I915F probably damaging Het
Adam11 C A 11: 102,667,362 (GRCm39) H641N probably damaging Het
Amfr A G 8: 94,725,806 (GRCm39) S192P probably damaging Het
Ano9 T A 7: 140,682,247 (GRCm39) N676I possibly damaging Het
Arfgef1 C T 1: 10,224,553 (GRCm39) V1428I probably benign Het
B3gnt9 C T 8: 105,980,497 (GRCm39) R297H probably benign Het
Bace2 C T 16: 97,158,108 (GRCm39) A36V possibly damaging Het
C1s1 C T 6: 124,508,115 (GRCm39) A625T probably damaging Het
Camkmt T C 17: 85,747,008 (GRCm39) L251P probably damaging Het
Ceacam15 C A 7: 16,405,928 (GRCm39) V208F probably benign Het
Clp1 T C 2: 84,554,117 (GRCm39) K351E probably damaging Het
Csmd3 T C 15: 47,561,547 (GRCm39) Y1343C Het
Cubn C A 2: 13,433,535 (GRCm39) G1125V probably damaging Het
Dpp4 C T 2: 62,178,234 (GRCm39) V633I probably benign Het
Eif2ak1 A T 5: 143,821,755 (GRCm39) D357V probably benign Het
Fez1 T C 9: 36,787,605 (GRCm39) M370T possibly damaging Het
Frk G A 10: 34,462,279 (GRCm39) E257K probably damaging Het
Gm7579 T A 7: 141,765,856 (GRCm39) C87* probably null Het
Henmt1 T C 3: 108,865,908 (GRCm39) V211A probably damaging Het
Hspg2 C G 4: 137,246,290 (GRCm39) P1023A possibly damaging Het
Ints9 T A 14: 65,273,863 (GRCm39) V556E probably benign Het
Itprid2 A T 2: 79,488,062 (GRCm39) K715I probably damaging Het
Klhl41 T C 2: 69,500,868 (GRCm39) S110P probably benign Het
Klrk1 T C 6: 129,599,663 (GRCm39) probably benign Het
Kmt2e A T 5: 23,704,451 (GRCm39) S1215C probably damaging Het
Lyn T C 4: 3,743,304 (GRCm39) probably null Het
Map2k5 T A 9: 63,246,380 (GRCm39) N116Y probably damaging Het
Map3k13 G T 16: 21,740,334 (GRCm39) E554* probably null Het
Map6 A G 7: 98,917,647 (GRCm39) E140G possibly damaging Het
Mpv17 A C 5: 31,311,447 (GRCm39) probably null Het
Myo1c C T 11: 75,562,253 (GRCm39) P883S probably benign Het
Myo7b T C 18: 32,116,979 (GRCm39) M914V probably benign Het
Olfm2 C T 9: 20,583,918 (GRCm39) probably null Het
Or2b4 G A 17: 38,116,543 (GRCm39) C169Y probably damaging Het
Osbpl7 T G 11: 96,950,989 (GRCm39) L612R probably damaging Het
Polq A T 16: 36,892,133 (GRCm39) M2012L possibly damaging Het
Ppp4r3c2 A T X: 88,798,322 (GRCm39) K718M probably damaging Het
Ptbp1 A C 10: 79,699,045 (GRCm39) E534D probably benign Het
Qser1 A G 2: 104,619,820 (GRCm39) Y241H probably damaging Het
Rbx1 T C 15: 81,358,078 (GRCm39) L88P probably damaging Het
Rft1 T C 14: 30,411,838 (GRCm39) L462P probably damaging Het
Serpinb9f T A 13: 33,511,290 (GRCm39) L77* probably null Het
Shisa9 T C 16: 11,815,015 (GRCm39) M221T possibly damaging Het
Slc12a2 T G 18: 58,012,281 (GRCm39) F135V possibly damaging Het
Slc23a1 C T 18: 35,755,588 (GRCm39) G436E probably damaging Het
Slc44a2 T C 9: 21,253,495 (GRCm39) F88L probably benign Het
Snx21 A G 2: 164,633,805 (GRCm39) E197G probably damaging Het
Srarp T C 4: 141,160,707 (GRCm39) D42G possibly damaging Het
St6galnac1 T A 11: 116,659,714 (GRCm39) M200L probably benign Het
Stambpl1 A T 19: 34,211,401 (GRCm39) Q154L probably benign Het
Szt2 G T 4: 118,250,033 (GRCm39) R492S possibly damaging Het
Thbs3 G A 3: 89,132,698 (GRCm39) R880Q probably benign Het
Tnks A T 8: 35,340,199 (GRCm39) L473H probably damaging Het
Ttc4 A G 4: 106,522,893 (GRCm39) S342P probably benign Het
Uckl1 T A 2: 181,211,512 (GRCm39) M463L probably benign Het
Unc80 T C 1: 66,688,192 (GRCm39) S2397P possibly damaging Het
Vmn2r73 T A 7: 85,507,128 (GRCm39) H728L probably benign Het
Vsig10l T C 7: 43,113,378 (GRCm39) V110A probably damaging Het
Zgrf1 T A 3: 127,354,564 (GRCm39) L61* probably null Het
Zswim5 A G 4: 116,843,989 (GRCm39) Y1009C probably damaging Het
Other mutations in Ppp1r7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00819:Ppp1r7 APN 1 93,273,978 (GRCm39) missense probably benign 0.00
IGL01475:Ppp1r7 APN 1 93,288,540 (GRCm39) splice site probably benign
R0787:Ppp1r7 UTSW 1 93,292,678 (GRCm39) missense probably damaging 1.00
R1827:Ppp1r7 UTSW 1 93,288,518 (GRCm39) missense probably benign 0.03
R2392:Ppp1r7 UTSW 1 93,282,063 (GRCm39) missense probably benign 0.03
R2869:Ppp1r7 UTSW 1 93,285,585 (GRCm39) critical splice donor site probably null
R2869:Ppp1r7 UTSW 1 93,285,585 (GRCm39) critical splice donor site probably null
R2870:Ppp1r7 UTSW 1 93,285,585 (GRCm39) critical splice donor site probably null
R2870:Ppp1r7 UTSW 1 93,285,585 (GRCm39) critical splice donor site probably null
R2872:Ppp1r7 UTSW 1 93,285,585 (GRCm39) critical splice donor site probably null
R2872:Ppp1r7 UTSW 1 93,285,585 (GRCm39) critical splice donor site probably null
R2873:Ppp1r7 UTSW 1 93,285,585 (GRCm39) critical splice donor site probably null
R5299:Ppp1r7 UTSW 1 93,280,348 (GRCm39) missense probably benign
R5388:Ppp1r7 UTSW 1 93,280,312 (GRCm39) missense probably damaging 0.99
R7528:Ppp1r7 UTSW 1 93,282,123 (GRCm39) nonsense probably null
R7856:Ppp1r7 UTSW 1 93,278,068 (GRCm39) missense possibly damaging 0.68
R7935:Ppp1r7 UTSW 1 93,273,904 (GRCm39) missense probably damaging 1.00
R8204:Ppp1r7 UTSW 1 93,292,733 (GRCm39) missense possibly damaging 0.50
R8678:Ppp1r7 UTSW 1 93,280,364 (GRCm39) missense probably benign 0.22
R8772:Ppp1r7 UTSW 1 93,282,150 (GRCm39) missense probably benign 0.04
R8946:Ppp1r7 UTSW 1 93,288,536 (GRCm39) critical splice donor site probably null
R9123:Ppp1r7 UTSW 1 93,285,497 (GRCm39) missense probably benign 0.27
R9367:Ppp1r7 UTSW 1 93,279,262 (GRCm39) missense probably damaging 1.00
RF007:Ppp1r7 UTSW 1 93,274,011 (GRCm39) critical splice donor site probably null
Z1088:Ppp1r7 UTSW 1 93,280,310 (GRCm39) missense probably damaging 1.00
Z1176:Ppp1r7 UTSW 1 93,282,076 (GRCm39) missense possibly damaging 0.49
Predicted Primers PCR Primer
(F):5'- GTTCCTCACATTGTCACATGAAG -3'
(R):5'- CAGAAATGGACCCACTGTACTC -3'

Sequencing Primer
(F):5'- CCTCACATTGTCACATGAAGTAGATG -3'
(R):5'- TGGACCCACTGTACTCATAAAC -3'
Posted On 2020-09-02