Incidental Mutation 'R6900:Ppp1r16a'
ID 538504
Institutional Source Beutler Lab
Gene Symbol Ppp1r16a
Ensembl Gene ENSMUSG00000033819
Gene Name protein phosphatase 1, regulatory subunit 16A
Synonyms 2900084E10Rik, R75527, Mypt3
MMRRC Submission 044994-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R6900 (G1)
Quality Score 195.009
Status Validated
Chromosome 15
Chromosomal Location 76555843-76579119 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76575923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 96 (S96G)
Ref Sequence ENSEMBL: ENSMUSP00000155515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037551] [ENSMUST00000135388] [ENSMUST00000150399] [ENSMUST00000229679] [ENSMUST00000231028]
AlphaFold Q923M0
Predicted Effect probably damaging
Transcript: ENSMUST00000037551
AA Change: S96G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037356
Gene: ENSMUSG00000033819
AA Change: S96G

DomainStartEndE-ValueType
ANK 70 99 2.5e3 SMART
ANK 103 132 3.41e-3 SMART
ANK 136 165 2.66e-5 SMART
ANK 231 260 2.58e-3 SMART
ANK 264 293 4.03e-5 SMART
low complexity region 323 346 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000135388
AA Change: S96G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect possibly damaging
Transcript: ENSMUST00000150399
AA Change: S96G

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123458
Gene: ENSMUSG00000033819
AA Change: S96G

DomainStartEndE-ValueType
ANK 70 99 2.5e3 SMART
ANK 103 132 3.41e-3 SMART
ANK 136 165 2.66e-5 SMART
Predicted Effect silent
Transcript: ENSMUST00000156920
Predicted Effect probably benign
Transcript: ENSMUST00000229679
Predicted Effect probably benign
Transcript: ENSMUST00000231028
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
Validation Efficiency 100% (32/32)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Myosin light chain kinase and phosphatase (MLCP) complexes control the phosphorylation states of regulatory myosin light chains, which is crucial for muscle and intracellular movement. MLCPs typically contain a catalytic protein phosphatase 1 (PP1c) subunit, a myosin phosphatase targeting (MYPT) subunit, and another smaller subunit. The protein encoded by this gene represents an MYPT subunit, which is responsible for directing PP1c to its intended targets. However, while other MYPTs result in PP1c activation after becoming phosphorylated, the encoded protein is phosphorylated by protein kinase A and then inhibits the catalytic activity of PP1c. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 T C 8: 78,037,491 (GRCm39) D579G probably damaging Het
Cc2d2b A G 19: 40,813,518 (GRCm39) S1333G probably null Het
Cep250 A G 2: 155,838,190 (GRCm39) probably null Het
Chd3 T C 11: 69,245,271 (GRCm39) D1149G possibly damaging Het
Dnah7a A G 1: 53,701,510 (GRCm39) L215P probably damaging Het
Fbn2 T C 18: 58,209,903 (GRCm39) M993V probably benign Het
Ggt5 A T 10: 75,446,371 (GRCm39) Q523L possibly damaging Het
Hcn1 A G 13: 117,793,363 (GRCm39) N205S probably benign Het
Htr1b A T 9: 81,513,623 (GRCm39) I328N probably damaging Het
Itgav T A 2: 83,633,591 (GRCm39) F980Y probably damaging Het
Kbtbd2 A G 6: 56,757,008 (GRCm39) S243P probably damaging Het
Kcnd2 A G 6: 21,216,587 (GRCm39) N97S probably damaging Het
Kifbp T C 10: 62,394,908 (GRCm39) Y578C probably damaging Het
Lars1 T C 18: 42,367,675 (GRCm39) K468E probably benign Het
Map3k1 T C 13: 111,890,350 (GRCm39) N1283S probably benign Het
Mapk8ip3 A T 17: 25,128,097 (GRCm39) probably null Het
Mroh2b A G 15: 4,938,469 (GRCm39) I253V probably benign Het
Nup98 A G 7: 101,835,169 (GRCm39) F228S probably damaging Het
Or4k1 A T 14: 50,377,295 (GRCm39) V267E possibly damaging Het
Pdzd2 A G 15: 12,374,123 (GRCm39) F2004S probably benign Het
Pkhd1 A T 1: 20,604,925 (GRCm39) L1130Q probably benign Het
Pparg G T 6: 115,449,949 (GRCm39) R286L possibly damaging Het
Psg29 C T 7: 16,938,857 (GRCm39) Q44* probably null Het
Rgs22 A G 15: 36,010,893 (GRCm39) F1227S possibly damaging Het
Saxo1 T C 4: 86,363,571 (GRCm39) D304G possibly damaging Het
Sec14l1 T C 11: 117,008,049 (GRCm39) Y12H probably damaging Het
Sh3bp4 A G 1: 89,073,489 (GRCm39) N779S probably benign Het
Sin3a T C 9: 57,014,858 (GRCm39) V693A probably damaging Het
Teddm1b G A 1: 153,750,956 (GRCm39) C255Y probably benign Het
Ttk T A 9: 83,754,083 (GRCm39) S819T probably damaging Het
Zfp362 C T 4: 128,679,808 (GRCm39) C273Y probably damaging Het
Other mutations in Ppp1r16a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01393:Ppp1r16a APN 15 76,578,744 (GRCm39) missense probably benign
IGL01449:Ppp1r16a APN 15 76,578,494 (GRCm39) unclassified probably benign
IGL02128:Ppp1r16a APN 15 76,578,178 (GRCm39) missense probably benign
IGL02331:Ppp1r16a APN 15 76,575,200 (GRCm39) missense probably benign
R0057:Ppp1r16a UTSW 15 76,574,999 (GRCm39) unclassified probably benign
R0060:Ppp1r16a UTSW 15 76,574,999 (GRCm39) unclassified probably benign
R0113:Ppp1r16a UTSW 15 76,574,999 (GRCm39) unclassified probably benign
R0114:Ppp1r16a UTSW 15 76,574,999 (GRCm39) unclassified probably benign
R0244:Ppp1r16a UTSW 15 76,574,999 (GRCm39) unclassified probably benign
R0352:Ppp1r16a UTSW 15 76,574,999 (GRCm39) unclassified probably benign
R0646:Ppp1r16a UTSW 15 76,574,999 (GRCm39) unclassified probably benign
R0652:Ppp1r16a UTSW 15 76,574,999 (GRCm39) unclassified probably benign
R0722:Ppp1r16a UTSW 15 76,577,869 (GRCm39) nonsense probably null
R0744:Ppp1r16a UTSW 15 76,577,869 (GRCm39) nonsense probably null
R0833:Ppp1r16a UTSW 15 76,577,869 (GRCm39) nonsense probably null
R0834:Ppp1r16a UTSW 15 76,577,869 (GRCm39) nonsense probably null
R0835:Ppp1r16a UTSW 15 76,577,869 (GRCm39) nonsense probably null
R0836:Ppp1r16a UTSW 15 76,577,869 (GRCm39) nonsense probably null
R0885:Ppp1r16a UTSW 15 76,577,869 (GRCm39) nonsense probably null
R0942:Ppp1r16a UTSW 15 76,578,211 (GRCm39) missense probably damaging 0.98
R1061:Ppp1r16a UTSW 15 76,577,869 (GRCm39) nonsense probably null
R1168:Ppp1r16a UTSW 15 76,577,869 (GRCm39) nonsense probably null
R1170:Ppp1r16a UTSW 15 76,577,869 (GRCm39) nonsense probably null
R1171:Ppp1r16a UTSW 15 76,577,869 (GRCm39) nonsense probably null
R1503:Ppp1r16a UTSW 15 76,578,599 (GRCm39) missense probably benign
R1572:Ppp1r16a UTSW 15 76,577,869 (GRCm39) nonsense probably null
R1914:Ppp1r16a UTSW 15 76,577,268 (GRCm39) missense probably damaging 1.00
R1915:Ppp1r16a UTSW 15 76,577,268 (GRCm39) missense probably damaging 1.00
R2085:Ppp1r16a UTSW 15 76,577,796 (GRCm39) missense probably damaging 0.99
R4823:Ppp1r16a UTSW 15 76,577,393 (GRCm39) unclassified probably benign
R5153:Ppp1r16a UTSW 15 76,578,596 (GRCm39) nonsense probably null
R5443:Ppp1r16a UTSW 15 76,578,846 (GRCm39) missense possibly damaging 0.95
R5481:Ppp1r16a UTSW 15 76,575,221 (GRCm39) missense probably damaging 1.00
R7165:Ppp1r16a UTSW 15 76,575,104 (GRCm39) missense probably damaging 1.00
R7686:Ppp1r16a UTSW 15 76,578,783 (GRCm39) missense probably benign 0.37
R8138:Ppp1r16a UTSW 15 76,575,921 (GRCm39) missense probably damaging 1.00
R9150:Ppp1r16a UTSW 15 76,575,054 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- ATCTCTGGAGACACGGACAG -3'
(R):5'- CTCGAGCATTGACATCAGCC -3'

Sequencing Primer
(F):5'- CACGGACAGTGTTGTTCATTTC -3'
(R):5'- ACTCCTGCAGGCACTCACCTG -3'
Posted On 2018-11-06