Incidental Mutation 'IGL02106:Ppp1r16b'
ID279978
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp1r16b
Ensembl Gene ENSMUSG00000037754
Gene Nameprotein phosphatase 1, regulatory (inhibitor) subunit 16B
SynonymsC130078N17Rik, Wdt4, ANKRD4
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02106
Quality Score
Status
Chromosome2
Chromosomal Location158665398-158766334 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 158746531 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 112 (N112S)
Ref Sequence ENSEMBL: ENSMUSP00000099405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045503] [ENSMUST00000052927] [ENSMUST00000103116] [ENSMUST00000145073]
Predicted Effect possibly damaging
Transcript: ENSMUST00000045503
AA Change: N112S

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000039540
Gene: ENSMUSG00000037754
AA Change: N112S

DomainStartEndE-ValueType
low complexity region 22 39 N/A INTRINSIC
low complexity region 46 55 N/A INTRINSIC
ANK 67 96 5.69e2 SMART
ANK 100 129 5.04e-6 SMART
ANK 133 162 1.76e-5 SMART
ANK 228 257 4.43e-2 SMART
ANK 261 290 1.38e-3 SMART
low complexity region 301 314 N/A INTRINSIC
low complexity region 327 342 N/A INTRINSIC
low complexity region 504 517 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000052927
AA Change: N112S

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000062615
Gene: ENSMUSG00000037754
AA Change: N112S

DomainStartEndE-ValueType
low complexity region 22 39 N/A INTRINSIC
low complexity region 46 55 N/A INTRINSIC
ANK 67 96 5.69e2 SMART
ANK 100 129 5.04e-6 SMART
ANK 133 162 1.76e-5 SMART
ANK 228 257 4.43e-2 SMART
ANK 261 290 1.38e-3 SMART
low complexity region 301 314 N/A INTRINSIC
low complexity region 327 342 N/A INTRINSIC
low complexity region 504 517 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000103116
AA Change: N112S

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099405
Gene: ENSMUSG00000037754
AA Change: N112S

DomainStartEndE-ValueType
low complexity region 22 39 N/A INTRINSIC
low complexity region 46 55 N/A INTRINSIC
ANK 67 96 5.69e2 SMART
ANK 100 129 5.04e-6 SMART
ANK 133 162 1.76e-5 SMART
ANK 228 257 4.43e-2 SMART
ANK 261 290 1.38e-3 SMART
low complexity region 301 314 N/A INTRINSIC
low complexity region 327 342 N/A INTRINSIC
low complexity region 504 517 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129902
Predicted Effect probably benign
Transcript: ENSMUST00000145073
AA Change: N54S

PolyPhen 2 Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000117310
Gene: ENSMUSG00000037754
AA Change: N54S

DomainStartEndE-ValueType
ANK 9 38 5.69e2 SMART
ANK 42 71 5.04e-6 SMART
ANK 75 104 1.76e-5 SMART
Blast:ANK 149 190 5e-18 BLAST
low complexity region 201 214 N/A INTRINSIC
low complexity region 227 242 N/A INTRINSIC
low complexity region 404 417 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is membrane-associated and contains five ankyrin repeats, a protein phosphatase-1-interacting domain, and a carboxy-terminal CAAX box domain. Synthesis of the encoded protein is inhibited by transforming growth factor beta-1. The protein may bind to the membrane through its CAAX box domain and may act as a signaling molecule through interaction with protein phosphatase-1. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and grossly normal with no detectable defects in thymopoiesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl9l A G 9: 44,509,199 N1264D probably benign Het
Bmyc A G 2: 25,707,070 K49E probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Ceacam2 A G 7: 25,530,741 S147P probably benign Het
Cep152 G T 2: 125,602,936 probably null Het
Cnbd1 G T 4: 18,894,993 P250T possibly damaging Het
Col6a4 A G 9: 106,063,105 C1209R possibly damaging Het
Coro1c T C 5: 113,852,273 T116A probably benign Het
Ddx46 A G 13: 55,677,603 probably benign Het
Dnaaf5 T C 5: 139,151,513 I207T probably damaging Het
Erap1 A G 13: 74,646,639 D139G probably benign Het
Fbxw22 A T 9: 109,402,019 I121N possibly damaging Het
Fcmr T C 1: 130,875,135 S162P probably benign Het
Gadl1 A G 9: 115,937,157 probably benign Het
Gli2 T A 1: 118,836,735 S1229C probably benign Het
Gm10717 A T 9: 3,026,287 Y195F probably damaging Het
Gne T C 4: 44,037,306 N692D probably damaging Het
Knl1 A G 2: 119,072,008 T1397A possibly damaging Het
Lama3 C A 18: 12,468,314 A1016E probably damaging Het
Lhfpl2 A G 13: 94,191,911 D160G probably benign Het
Lmtk2 T A 5: 144,175,951 V1163E probably benign Het
Lrrtm2 G T 18: 35,212,815 S478* probably null Het
Nfatc2ip T C 7: 126,390,564 probably null Het
Nlrp12 A G 7: 3,233,944 I775T probably benign Het
Npr1 A G 3: 90,464,858 F216L probably benign Het
Olfr1451 G T 19: 12,999,565 S193I possibly damaging Het
Olfr206 T A 16: 59,345,024 N226Y probably benign Het
Olfr734 A T 14: 50,320,160 L225H probably damaging Het
Pkd1l1 C A 11: 8,833,800 G2052C probably damaging Het
Prr11 A G 11: 87,103,315 probably benign Het
Scap A G 9: 110,381,656 probably benign Het
Sirt1 C T 10: 63,335,829 R191Q probably damaging Het
Slc38a6 A C 12: 73,350,546 S321R possibly damaging Het
Sp140 T C 1: 85,643,219 V460A probably benign Het
Spdye4c A T 2: 128,592,666 K54N possibly damaging Het
Spta1 T A 1: 174,203,294 N947K probably benign Het
Srgap1 A G 10: 121,785,693 V965A possibly damaging Het
Tmem209 A C 6: 30,508,660 probably null Het
Trim37 A T 11: 87,201,404 K123* probably null Het
Trio T C 15: 27,744,158 T2563A possibly damaging Het
Utrn A T 10: 12,413,973 S734T possibly damaging Het
Vars2 A G 17: 35,664,621 probably benign Het
Xrn1 G A 9: 95,977,805 E417K probably benign Het
Yeats2 T A 16: 20,193,220 V515E possibly damaging Het
Other mutations in Ppp1r16b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00813:Ppp1r16b APN 2 158756965 missense probably damaging 1.00
IGL01024:Ppp1r16b APN 2 158740816 splice site probably benign
IGL01080:Ppp1r16b APN 2 158757172 missense probably damaging 0.99
IGL03084:Ppp1r16b APN 2 158761493 nonsense probably null
R0037:Ppp1r16b UTSW 2 158757209 missense probably damaging 0.98
R0037:Ppp1r16b UTSW 2 158757209 missense probably damaging 0.98
R0190:Ppp1r16b UTSW 2 158696063 missense probably damaging 1.00
R0294:Ppp1r16b UTSW 2 158746603 missense probably damaging 1.00
R1735:Ppp1r16b UTSW 2 158761495 missense possibly damaging 0.94
R1746:Ppp1r16b UTSW 2 158746665 critical splice donor site probably null
R1847:Ppp1r16b UTSW 2 158761435 missense probably damaging 0.99
R2297:Ppp1r16b UTSW 2 158761366 missense possibly damaging 0.88
R2509:Ppp1r16b UTSW 2 158761463 missense possibly damaging 0.87
R2923:Ppp1r16b UTSW 2 158756957 missense probably damaging 1.00
R3907:Ppp1r16b UTSW 2 158761490 missense probably benign 0.00
R4344:Ppp1r16b UTSW 2 158749186 missense probably damaging 1.00
R4373:Ppp1r16b UTSW 2 158761765 missense probably damaging 1.00
R4423:Ppp1r16b UTSW 2 158757254 missense probably benign 0.00
R4424:Ppp1r16b UTSW 2 158757254 missense probably benign 0.00
R4425:Ppp1r16b UTSW 2 158757254 missense probably benign 0.00
R4623:Ppp1r16b UTSW 2 158761463 missense possibly damaging 0.87
R5436:Ppp1r16b UTSW 2 158757333 intron probably benign
R6029:Ppp1r16b UTSW 2 158755217 missense possibly damaging 0.74
R6119:Ppp1r16b UTSW 2 158751127 missense probably benign 0.00
R6816:Ppp1r16b UTSW 2 158761675 missense probably benign 0.00
R6941:Ppp1r16b UTSW 2 158696148 missense probably damaging 1.00
R7048:Ppp1r16b UTSW 2 158757254 missense probably benign 0.00
R7101:Ppp1r16b UTSW 2 158761763 missense probably damaging 1.00
R7255:Ppp1r16b UTSW 2 158761391 missense probably benign 0.41
R7490:Ppp1r16b UTSW 2 158761468 missense probably damaging 0.99
X0064:Ppp1r16b UTSW 2 158751127 missense probably benign 0.00
Z1177:Ppp1r16b UTSW 2 158761434 missense probably benign 0.18
Z1177:Ppp1r16b UTSW 2 158761814 missense probably damaging 1.00
Posted On2015-04-16