Incidental Mutation 'R9628:Ppp6r1'
ID 725280
Institutional Source Beutler Lab
Gene Symbol Ppp6r1
Ensembl Gene ENSMUSG00000052296
Gene Name protein phosphatase 6, regulatory subunit 1
Synonyms B430201G11Rik, Saps1, Pp6r1, 2010309P17Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # R9628 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 4634494-4661949 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 4636112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 782 (A782V)
Ref Sequence ENSEMBL: ENSMUSP00000066736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055085] [ENSMUST00000064099] [ENSMUST00000205360] [ENSMUST00000205402] [ENSMUST00000206610]
AlphaFold Q7TSI3
Predicted Effect probably benign
Transcript: ENSMUST00000055085
SMART Domains Protein: ENSMUSP00000060237
Gene: ENSMUSG00000045282

DomainStartEndE-ValueType
transmembrane domain 21 40 N/A INTRINSIC
Pfam:YhhN 47 217 1.2e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000064099
AA Change: A782V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000066736
Gene: ENSMUSG00000052296
AA Change: A782V

DomainStartEndE-ValueType
low complexity region 16 36 N/A INTRINSIC
Pfam:SAPS 128 378 4.6e-69 PFAM
Pfam:SAPS 372 519 1.8e-39 PFAM
low complexity region 525 536 N/A INTRINSIC
low complexity region 618 639 N/A INTRINSIC
low complexity region 669 681 N/A INTRINSIC
low complexity region 692 707 N/A INTRINSIC
low complexity region 842 855 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000205360
Predicted Effect probably benign
Transcript: ENSMUST00000205402
Predicted Effect probably benign
Transcript: ENSMUST00000206610
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein phosphatase regulatory subunits, such as SAPS1, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS1 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg7 T C 16: 56,553,193 (GRCm39) N635D probably damaging Het
Ankrd13c G C 3: 157,653,313 (GRCm39) K50N probably benign Het
Arhgef38 T C 3: 132,838,025 (GRCm39) Y635C unknown Het
Avl9 T A 6: 56,713,460 (GRCm39) Y239* probably null Het
C2cd3 T A 7: 100,097,961 (GRCm39) H1449Q Het
Ccdc141 G A 2: 76,844,838 (GRCm39) P1410S probably damaging Het
Ccz1 G A 5: 143,925,043 (GRCm39) T471M possibly damaging Het
Cdh26 T C 2: 178,083,213 (GRCm39) S27P Het
Cdk11b T G 4: 155,734,154 (GRCm39) D756E unknown Het
Celsr3 C A 9: 108,703,559 (GRCm39) S14* probably null Het
Cntrob T C 11: 69,213,782 (GRCm39) T3A possibly damaging Het
Cracd A G 5: 77,004,923 (GRCm39) E428G unknown Het
Csde1 T C 3: 102,962,825 (GRCm39) V738A probably benign Het
Dazap1 T C 10: 80,118,999 (GRCm39) Y230H unknown Het
Dip2a A G 10: 76,142,993 (GRCm39) I264T probably damaging Het
Dleu7 C A 14: 62,530,144 (GRCm39) A86S possibly damaging Het
Dnmbp T A 19: 43,858,646 (GRCm39) D132V probably damaging Het
Dppa4 T C 16: 48,111,672 (GRCm39) V219A probably benign Het
Dsg1c T A 18: 20,397,373 (GRCm39) I27N probably damaging Het
Egr4 T C 6: 85,489,292 (GRCm39) Y256C probably benign Het
Ess2 A T 16: 17,720,757 (GRCm39) M363K probably damaging Het
Fam124a A G 14: 62,825,010 (GRCm39) E168G probably damaging Het
Gata4 T C 14: 63,478,545 (GRCm39) Y18C probably damaging Het
Gckr C A 5: 31,457,934 (GRCm39) A147D probably damaging Het
H1f8 G A 6: 115,924,700 (GRCm39) V69I probably damaging Het
Hook1 T C 4: 95,901,560 (GRCm39) L506P probably damaging Het
Hormad2 G A 11: 4,377,372 (GRCm39) P22L probably damaging Het
Larp1b T C 3: 40,916,103 (GRCm39) probably null Het
Ldhb T C 6: 142,439,862 (GRCm39) E226G probably damaging Het
Lpar5 T G 6: 125,058,948 (GRCm39) V223G probably damaging Het
Lrrc37a A G 11: 103,394,330 (GRCm39) V365A probably benign Het
Lrrtm3 T C 10: 63,923,776 (GRCm39) K464E probably damaging Het
Ly75 A G 2: 60,158,285 (GRCm39) I1000T probably damaging Het
Myo1d C A 11: 80,448,296 (GRCm39) G943V possibly damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nphp4 T C 4: 152,568,966 (GRCm39) L35P probably damaging Het
Nptx2 G A 5: 144,490,261 (GRCm39) R230H probably benign Het
Ntsr1 G A 2: 180,183,274 (GRCm39) R328H probably damaging Het
Or1e25 G A 11: 73,493,864 (GRCm39) V153I probably benign Het
Or4c111 A G 2: 88,843,670 (GRCm39) V246A probably damaging Het
Or8b1 T G 9: 38,399,871 (GRCm39) L182R probably benign Het
Padi6 G A 4: 140,464,626 (GRCm39) T201I probably damaging Het
Plscr4 C T 9: 92,354,985 (GRCm39) T13I possibly damaging Het
Rab18 G A 18: 6,788,647 (GRCm39) V205M probably benign Het
Rhobtb1 T C 10: 69,106,653 (GRCm39) V468A probably damaging Het
Rhox8 GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT X: 36,966,991 (GRCm39) probably benign Het
Scaf11 A T 15: 96,317,398 (GRCm39) I722N probably benign Het
Slc17a4 A G 13: 24,089,512 (GRCm39) V135A possibly damaging Het
Slc30a5 A G 13: 100,961,422 (GRCm39) probably null Het
Slc5a6 T C 5: 31,197,746 (GRCm39) Y321C probably benign Het
Spag7 A T 11: 70,555,186 (GRCm39) D178E probably benign Het
Swsap1 T G 9: 21,867,172 (GRCm39) S39A Het
Tank A G 2: 61,483,876 (GRCm39) T441A probably benign Het
Tor1aip1 C A 1: 155,893,320 (GRCm39) G276* probably null Het
Usp47 G A 7: 111,705,999 (GRCm39) M1220I probably benign Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn2r35 A G 7: 7,815,702 (GRCm39) V489A probably benign Het
Wif1 T C 10: 120,932,549 (GRCm39) V309A possibly damaging Het
Xpo4 T C 14: 57,842,630 (GRCm39) N434D probably damaging Het
Zfp462 A T 4: 55,009,423 (GRCm39) H463L probably benign Het
Other mutations in Ppp6r1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01883:Ppp6r1 APN 7 4,642,986 (GRCm39) splice site probably null
IGL02232:Ppp6r1 APN 7 4,636,341 (GRCm39) missense probably damaging 0.98
IGL02674:Ppp6r1 APN 7 4,649,812 (GRCm39) missense probably damaging 1.00
IGL02887:Ppp6r1 APN 7 4,645,211 (GRCm39) missense probably damaging 1.00
IGL02990:Ppp6r1 APN 7 4,646,022 (GRCm39) missense possibly damaging 0.83
IGL03135:Ppp6r1 APN 7 4,645,159 (GRCm39) missense possibly damaging 0.90
IGL03399:Ppp6r1 APN 7 4,646,251 (GRCm39) missense probably damaging 1.00
R0375:Ppp6r1 UTSW 7 4,636,286 (GRCm39) missense probably benign 0.00
R0412:Ppp6r1 UTSW 7 4,645,213 (GRCm39) missense probably damaging 0.98
R0760:Ppp6r1 UTSW 7 4,642,722 (GRCm39) missense probably benign 0.00
R0883:Ppp6r1 UTSW 7 4,642,709 (GRCm39) missense possibly damaging 0.89
R1478:Ppp6r1 UTSW 7 4,643,377 (GRCm39) splice site probably null
R1515:Ppp6r1 UTSW 7 4,646,257 (GRCm39) missense probably damaging 0.97
R1768:Ppp6r1 UTSW 7 4,636,691 (GRCm39) critical splice donor site probably null
R1772:Ppp6r1 UTSW 7 4,645,030 (GRCm39) missense probably benign 0.00
R4017:Ppp6r1 UTSW 7 4,636,743 (GRCm39) missense probably benign 0.07
R4519:Ppp6r1 UTSW 7 4,644,045 (GRCm39) splice site probably null
R4795:Ppp6r1 UTSW 7 4,644,053 (GRCm39) missense possibly damaging 0.66
R4849:Ppp6r1 UTSW 7 4,646,206 (GRCm39) missense probably damaging 1.00
R5214:Ppp6r1 UTSW 7 4,646,176 (GRCm39) missense probably benign 0.00
R5416:Ppp6r1 UTSW 7 4,642,747 (GRCm39) missense possibly damaging 0.96
R5643:Ppp6r1 UTSW 7 4,636,771 (GRCm39) missense probably benign 0.30
R5765:Ppp6r1 UTSW 7 4,645,207 (GRCm39) missense possibly damaging 0.67
R6126:Ppp6r1 UTSW 7 4,646,376 (GRCm39) missense possibly damaging 0.48
R6854:Ppp6r1 UTSW 7 4,635,395 (GRCm39) missense probably benign 0.02
R6932:Ppp6r1 UTSW 7 4,636,291 (GRCm39) missense possibly damaging 0.84
R7011:Ppp6r1 UTSW 7 4,649,825 (GRCm39) missense probably damaging 1.00
R7486:Ppp6r1 UTSW 7 4,642,899 (GRCm39) missense probably benign 0.17
R7500:Ppp6r1 UTSW 7 4,639,129 (GRCm39) missense probably benign 0.04
R7982:Ppp6r1 UTSW 7 4,646,157 (GRCm39) missense probably benign 0.00
R8769:Ppp6r1 UTSW 7 4,644,289 (GRCm39) missense probably benign
X0062:Ppp6r1 UTSW 7 4,643,306 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TTTAGGTGCCATTGTCCAAAAC -3'
(R):5'- GCAAAGTAGCAGAGCCCTTG -3'

Sequencing Primer
(F):5'- GATACAAGGACACAGGAGCTC -3'
(R):5'- GGGTGAGCTAAGCCATACCTTTC -3'
Posted On 2022-09-12