Incidental Mutation 'R2085:Ppp1r16a'
ID 230291
Institutional Source Beutler Lab
Gene Symbol Ppp1r16a
Ensembl Gene ENSMUSG00000033819
Gene Name protein phosphatase 1, regulatory subunit 16A
Synonyms 2900084E10Rik, R75527, Mypt3
MMRRC Submission 040090-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R2085 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 76555843-76579119 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 76577796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 303 (D303E)
Ref Sequence ENSEMBL: ENSMUSP00000155515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023203] [ENSMUST00000037551] [ENSMUST00000135388] [ENSMUST00000150399] [ENSMUST00000229679] [ENSMUST00000229734] [ENSMUST00000229140] [ENSMUST00000231028]
AlphaFold Q923M0
Predicted Effect probably benign
Transcript: ENSMUST00000023203
SMART Domains Protein: ENSMUSP00000023203
Gene: ENSMUSG00000022546

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 83 484 7.8e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000037551
AA Change: D303E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000037356
Gene: ENSMUSG00000033819
AA Change: D303E

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 noncoding transcript
Transcript: ENSMUST00000127674
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129396
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134449
Predicted Effect probably damaging
Transcript: ENSMUST00000135388
AA Change: D303E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000150399
AA Change: M236K

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000123458
Gene: ENSMUSG00000033819
AA Change: M236K

DomainStartEndE-ValueType
ANK 70 99 2.5e3 SMART
ANK 103 132 3.41e-3 SMART
ANK 136 165 2.66e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140730
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138951
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143274
Predicted Effect probably benign
Transcript: ENSMUST00000229679
Predicted Effect probably benign
Transcript: ENSMUST00000229734
Predicted Effect probably benign
Transcript: ENSMUST00000156920
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229340
Predicted Effect probably benign
Transcript: ENSMUST00000229140
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230283
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229856
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228987
Predicted Effect probably benign
Transcript: ENSMUST00000231028
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230482
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810408A11Rik G T 11: 69,791,198 (GRCm39) T127K possibly damaging Het
A2m T G 6: 121,653,918 (GRCm39) I1417S probably damaging Het
Acad10 A G 5: 121,787,523 (GRCm39) I142T possibly damaging Het
Adprm T A 11: 66,932,678 (GRCm39) D77V probably damaging Het
Apob C T 12: 8,062,240 (GRCm39) T3574I probably damaging Het
Bahcc1 A G 11: 120,178,908 (GRCm39) K2489R probably damaging Het
Bub1b A G 2: 118,452,676 (GRCm39) E443G possibly damaging Het
Cd9 A T 6: 125,440,734 (GRCm39) probably null Het
Cgnl1 G A 9: 71,538,160 (GRCm39) T1194M probably damaging Het
Clec9a T C 6: 129,387,274 (GRCm39) V43A probably benign Het
Col11a1 C T 3: 113,951,791 (GRCm39) R1074C probably damaging Het
Dpep3 A G 8: 106,701,346 (GRCm39) V401A probably damaging Het
Duox2 G T 2: 122,111,448 (GRCm39) H1417N probably damaging Het
Efhb C T 17: 53,733,937 (GRCm39) probably null Het
F2r T C 13: 95,741,418 (GRCm39) N39S probably benign Het
Fcamr T C 1: 130,739,335 (GRCm39) F212L probably damaging Het
Galt G A 4: 41,758,162 (GRCm39) R309Q probably damaging Het
Gas2l2 C A 11: 83,318,209 (GRCm39) A167S probably benign Het
Hecw1 A T 13: 14,438,672 (GRCm39) F904I possibly damaging Het
Herc2 C A 7: 55,862,713 (GRCm39) H4127Q possibly damaging Het
Hipk1 T C 3: 103,657,670 (GRCm39) T805A probably benign Het
Hivep1 A G 13: 42,337,226 (GRCm39) E2435G probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hivep2 C A 10: 14,015,273 (GRCm39) C1813* probably null Het
Hyal4 C T 6: 24,755,749 (GRCm39) probably benign Het
Inpp4b A G 8: 82,678,903 (GRCm39) Y311C probably damaging Het
Itih4 A G 14: 30,614,280 (GRCm39) Y410C possibly damaging Het
Lama2 A T 10: 27,080,837 (GRCm39) C995* probably null Het
Lingo4 C A 3: 94,309,552 (GRCm39) D163E probably damaging Het
Malt1 A G 18: 65,606,218 (GRCm39) D642G probably damaging Het
Mbd4 T A 6: 115,825,918 (GRCm39) M358L probably benign Het
Mbd5 T A 2: 49,169,323 (GRCm39) F1498Y possibly damaging Het
Me1 T C 9: 86,495,607 (GRCm39) Q280R probably damaging Het
Megf9 T C 4: 70,367,004 (GRCm39) H326R probably damaging Het
Nid2 G A 14: 19,828,111 (GRCm39) G516S probably benign Het
Or13p10 T C 4: 118,523,301 (GRCm39) S196P probably damaging Het
Or1e1 T C 11: 73,245,247 (GRCm39) S223P possibly damaging Het
Or4k1 T A 14: 50,377,580 (GRCm39) N172I probably damaging Het
Or5h18 C T 16: 58,848,232 (GRCm39) V13I probably benign Het
Or8b1c A G 9: 38,384,223 (GRCm39) Y60C probably damaging Het
Polr2j T C 5: 136,145,625 (GRCm39) F7L probably damaging Het
Prickle2 T C 6: 92,353,345 (GRCm39) E763G probably damaging Het
Rdh11 T C 12: 79,229,556 (GRCm39) Y239C possibly damaging Het
Sdhaf3 A G 6: 6,956,048 (GRCm39) R8G probably benign Het
Sgk2 T C 2: 162,854,890 (GRCm39) S305P probably damaging Het
Sptbn2 A G 19: 4,788,587 (GRCm39) S1189G probably benign Het
Stab2 A G 10: 86,790,023 (GRCm39) L581P probably damaging Het
Tifab T C 13: 56,324,110 (GRCm39) Q111R probably damaging Het
Ubr3 C T 2: 69,784,108 (GRCm39) R775C probably damaging Het
Usp17lb T A 7: 104,489,622 (GRCm39) Q434L possibly damaging Het
Wdr46 G T 17: 34,160,425 (GRCm39) E135* probably null Het
Zfp318 T A 17: 46,720,590 (GRCm39) probably null Het
Zfp874a T A 13: 67,590,967 (GRCm39) H239L probably damaging Het
Zscan29 A T 2: 121,000,427 (GRCm39) L60* probably null 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
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
R6900:Ppp1r16a UTSW 15 76,575,923 (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'- TAAGGACCATGATGGCTGGG -3'
(R):5'- GTCTCAACAAGCGGACAGTG -3'

Sequencing Primer
(F):5'- TAGGTTCCGGGCTCTCACTAG -3'
(R):5'- CGGACAGTGACCACAGCAG -3'
Posted On 2014-09-18