Incidental Mutation 'R0787:Ppp1r7'
ID 76883
Institutional Source Beutler Lab
Gene Symbol Ppp1r7
Ensembl Gene ENSMUSG00000026275
Gene Name protein phosphatase 1, regulatory (inhibitor) subunit 7
Synonyms 2310014J01Rik, SDS22
MMRRC Submission 038967-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R0787 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 93342854-93373489 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93364956 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 326 (T326A)
Ref Sequence ENSEMBL: ENSMUSP00000027494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027494]
AlphaFold Q3UM45
Predicted Effect probably damaging
Transcript: ENSMUST00000027494
AA Change: T326A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027494
Gene: ENSMUSG00000026275
AA Change: T326A

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 noncoding transcript
Transcript: ENSMUST00000082455
Meta Mutation Damage Score 0.2209 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 96.9%
  • 20x: 93.4%
Validation Efficiency 100% (56/56)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001F09Rik A T 14: 43,345,493 (GRCm38) probably null Het
Abca8a T A 11: 110,042,988 (GRCm38) Y1197F possibly damaging Het
Abcc2 T C 19: 43,798,516 (GRCm38) probably null Het
Adamts16 A T 13: 70,738,829 (GRCm38) C979S probably damaging Het
Agap2 T A 10: 127,085,150 (GRCm38) D523E unknown Het
Ankfy1 T A 11: 72,760,296 (GRCm38) I1024N probably damaging Het
Ankrd13c A G 3: 157,994,678 (GRCm38) S379G probably null Het
Arhgap40 T C 2: 158,547,790 (GRCm38) S625P probably benign Het
Armc12 G C 17: 28,538,766 (GRCm38) A291P probably damaging Het
Armc9 A G 1: 86,202,505 (GRCm38) N524D probably damaging Het
Col12a1 G T 9: 79,638,485 (GRCm38) T2305K probably damaging Het
Cyp2c54 T C 19: 40,047,635 (GRCm38) N277S probably benign Het
Czib T A 4: 107,890,129 (GRCm38) L6Q probably damaging Het
E130311K13Rik A T 3: 63,920,298 (GRCm38) V129E probably benign Het
Ehbp1l1 T C 19: 5,722,668 (GRCm38) D79G possibly damaging Het
Epb41l1 A G 2: 156,494,090 (GRCm38) E58G probably damaging Het
Fam217b T A 2: 178,420,909 (GRCm38) V222E probably benign Het
Fat1 T A 8: 45,040,555 (GRCm38) Y3913N probably damaging Het
Fgd4 A G 16: 16,423,901 (GRCm38) probably benign Het
Hltf A T 3: 20,106,446 (GRCm38) D759V probably damaging Het
Hsp90ab1 ACTTCTT ACTT 17: 45,569,499 (GRCm38) probably benign Het
Isg15 C T 4: 156,199,939 (GRCm38) R44H probably benign Het
Itga4 C T 2: 79,279,153 (GRCm38) T232I probably benign Het
Kntc1 C A 5: 123,796,104 (GRCm38) H1399Q probably benign Het
Lig1 A C 7: 13,299,069 (GRCm38) K499Q probably benign Het
Lrrn3 C A 12: 41,454,231 (GRCm38) C29F probably damaging Het
Mtmr10 T C 7: 64,300,615 (GRCm38) I136T possibly damaging Het
Naip1 A G 13: 100,426,096 (GRCm38) Y854H probably benign Het
Or6c201 T C 10: 129,133,526 (GRCm38) N81D possibly damaging Het
Pcdh9 G A 14: 93,886,757 (GRCm38) A659V possibly damaging Het
Phf20l1 T A 15: 66,615,630 (GRCm38) probably benign Het
Phgdh A G 3: 98,334,549 (GRCm38) V83A probably damaging Het
Pik3r1 A T 13: 101,690,523 (GRCm38) M326K probably benign Het
Pirb A T 7: 3,717,638 (GRCm38) L287Q probably benign Het
Pkd1l2 T C 8: 117,076,177 (GRCm38) D235G possibly damaging Het
Pkhd1l1 C A 15: 44,529,264 (GRCm38) P1665Q probably damaging Het
Prr22 A T 17: 56,771,072 (GRCm38) Y75F possibly damaging Het
Ptov1 A C 7: 44,865,470 (GRCm38) probably null Het
Rasal2 A G 1: 157,158,696 (GRCm38) S766P probably damaging Het
Shmt1 T C 11: 60,792,976 (GRCm38) T337A probably benign Het
St5 G T 7: 109,525,620 (GRCm38) R1068S possibly damaging Het
Tbc1d4 A T 14: 101,449,209 (GRCm38) I1168N probably damaging Het
Tecpr2 T C 12: 110,946,343 (GRCm38) V1126A probably benign Het
Tep1 A T 14: 50,829,230 (GRCm38) S2304T possibly damaging Het
Tiam1 C A 16: 89,789,561 (GRCm38) R1446M probably damaging Het
Tmem87a T C 2: 120,370,484 (GRCm38) I425V probably benign Het
Ubr3 T C 2: 69,951,421 (GRCm38) probably benign Het
Ubxn7 T A 16: 32,381,763 (GRCm38) probably benign Het
Vmn2r13 A G 5: 109,156,847 (GRCm38) S573P probably damaging Het
Wdfy3 A T 5: 101,957,388 (GRCm38) V191E probably damaging Het
Zdhhc3 A T 9: 123,083,623 (GRCm38) C153* probably null Het
Zfp407 A T 18: 84,209,022 (GRCm38) V2154D probably damaging Het
Zfp407 A G 18: 84,209,346 (GRCm38) V2046A probably benign Het
Zfr T A 15: 12,140,548 (GRCm38) I227N unknown Het
Other mutations in Ppp1r7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00819:Ppp1r7 APN 1 93,346,256 (GRCm38) missense probably benign 0.00
IGL01475:Ppp1r7 APN 1 93,360,818 (GRCm38) splice site probably benign
R1827:Ppp1r7 UTSW 1 93,360,796 (GRCm38) missense probably benign 0.03
R2392:Ppp1r7 UTSW 1 93,354,341 (GRCm38) missense probably benign 0.03
R2869:Ppp1r7 UTSW 1 93,357,863 (GRCm38) critical splice donor site probably null
R2869:Ppp1r7 UTSW 1 93,357,863 (GRCm38) critical splice donor site probably null
R2870:Ppp1r7 UTSW 1 93,357,863 (GRCm38) critical splice donor site probably null
R2870:Ppp1r7 UTSW 1 93,357,863 (GRCm38) critical splice donor site probably null
R2872:Ppp1r7 UTSW 1 93,357,863 (GRCm38) critical splice donor site probably null
R2872:Ppp1r7 UTSW 1 93,357,863 (GRCm38) critical splice donor site probably null
R2873:Ppp1r7 UTSW 1 93,357,863 (GRCm38) critical splice donor site probably null
R5299:Ppp1r7 UTSW 1 93,352,626 (GRCm38) missense probably benign
R5388:Ppp1r7 UTSW 1 93,352,590 (GRCm38) missense probably damaging 0.99
R7528:Ppp1r7 UTSW 1 93,354,401 (GRCm38) nonsense probably null
R7856:Ppp1r7 UTSW 1 93,350,346 (GRCm38) missense possibly damaging 0.68
R7935:Ppp1r7 UTSW 1 93,346,182 (GRCm38) missense probably damaging 1.00
R8204:Ppp1r7 UTSW 1 93,365,011 (GRCm38) missense possibly damaging 0.50
R8341:Ppp1r7 UTSW 1 93,346,278 (GRCm38) missense probably benign
R8678:Ppp1r7 UTSW 1 93,352,642 (GRCm38) missense probably benign 0.22
R8772:Ppp1r7 UTSW 1 93,354,428 (GRCm38) missense probably benign 0.04
R8946:Ppp1r7 UTSW 1 93,360,814 (GRCm38) critical splice donor site probably null
R9123:Ppp1r7 UTSW 1 93,357,775 (GRCm38) missense probably benign 0.27
R9367:Ppp1r7 UTSW 1 93,351,540 (GRCm38) missense probably damaging 1.00
RF007:Ppp1r7 UTSW 1 93,346,289 (GRCm38) critical splice donor site probably null
Z1088:Ppp1r7 UTSW 1 93,352,588 (GRCm38) missense probably damaging 1.00
Z1176:Ppp1r7 UTSW 1 93,354,354 (GRCm38) missense possibly damaging 0.49
Predicted Primers PCR Primer
(F):5'- TGACTCCAGTTAGTGTAGGAGCAGG -3'
(R):5'- ATGGTGTGTAGCATCACAGGCCAG -3'

Sequencing Primer
(F):5'- TCACTGTGCTGCTAAAAGGC -3'
(R):5'- ACTGTTGGTATAGTGACGACATC -3'
Posted On 2013-10-16