Incidental Mutation 'R6119:Ppp1r16b'
ID 485642
Institutional Source Beutler Lab
Gene Symbol Ppp1r16b
Ensembl Gene ENSMUSG00000037754
Gene Name protein phosphatase 1, regulatory subunit 16B
Synonyms C130078N17Rik, Wdt4, ANKRD4
MMRRC Submission 044429-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6119 (G1)
Quality Score 169.009
Status Validated
Chromosome 2
Chromosomal Location 158508653-158608254 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 158593047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 209 (I209V)
Ref Sequence ENSEMBL: ENSMUSP00000099405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045503] [ENSMUST00000052927] [ENSMUST00000103116] [ENSMUST00000145073]
AlphaFold Q8VHQ3
Predicted Effect probably benign
Transcript: ENSMUST00000045503
AA Change: I209V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000039540
Gene: ENSMUSG00000037754
AA Change: I209V

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 probably benign
Transcript: ENSMUST00000052927
AA Change: I209V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000062615
Gene: ENSMUSG00000037754
AA Change: I209V

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 probably benign
Transcript: ENSMUST00000103116
AA Change: I209V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000099405
Gene: ENSMUSG00000037754
AA Change: I209V

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: I151V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117310
Gene: ENSMUSG00000037754
AA Change: I151V

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
Meta Mutation Damage Score 0.0742 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.2%
Validation Efficiency 100% (53/53)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C T 7: 27,265,138 (GRCm39) R97* probably null Het
4930544D05Rik G A 11: 70,507,317 (GRCm39) A121T probably damaging Het
Abtb2 A T 2: 103,532,655 (GRCm39) E484D probably benign Het
Ankk1 A T 9: 49,338,183 (GRCm39) W37R possibly damaging Het
Arhgap11a C A 2: 113,664,695 (GRCm39) M529I probably benign Het
Btd G A 14: 31,363,065 (GRCm39) probably benign Het
Ddx47 T C 6: 135,000,318 (GRCm39) I438T probably benign Het
Dnhd1 A G 7: 105,358,647 (GRCm39) T3379A probably benign Het
Dusp3 A G 11: 101,871,495 (GRCm39) probably benign Het
Dync1h1 A G 12: 110,594,440 (GRCm39) K1289E possibly damaging Het
Egf A T 3: 129,530,421 (GRCm39) I247N probably benign Het
Erich1 A G 8: 14,083,692 (GRCm39) L126P probably benign Het
Fat3 T A 9: 16,287,864 (GRCm39) H553L possibly damaging Het
Gdpgp1 T C 7: 79,888,740 (GRCm39) L257P probably damaging Het
Gimap8 T C 6: 48,635,888 (GRCm39) I551T possibly damaging Het
Gnptab C A 10: 88,267,257 (GRCm39) D449E probably damaging Het
Grb10 T C 11: 11,883,551 (GRCm39) D513G probably damaging Het
Grin1 T G 2: 25,195,170 (GRCm39) D283A probably damaging Het
Gtf2i A T 5: 134,315,911 (GRCm39) probably null Het
Ip6k3 A G 17: 27,367,599 (GRCm39) V199A possibly damaging Het
Kif17 T A 4: 138,015,643 (GRCm39) Y405* probably null Het
Lair1 T C 7: 4,031,895 (GRCm39) M71V probably benign Het
Mamdc2 G A 19: 23,330,679 (GRCm39) T376M probably damaging Het
Msra G A 14: 64,678,183 (GRCm39) R38C probably damaging Het
Mthfd1 A T 12: 76,350,447 (GRCm39) I462F probably damaging Het
Nbr1 A G 11: 101,457,938 (GRCm39) probably null Het
Neb A G 2: 52,110,943 (GRCm39) M181T probably benign Het
Noxo1 A G 17: 24,915,545 (GRCm39) probably benign Het
Optn C A 2: 5,026,134 (GRCm39) probably null Het
Or10ag58 A T 2: 87,265,733 (GRCm39) K301* probably null Het
Or4c103 A G 2: 88,513,935 (GRCm39) I47T probably damaging Het
Or5k17 A T 16: 58,746,895 (GRCm39) I13N possibly damaging Het
Or6c215 G A 10: 129,637,689 (GRCm39) A235V probably damaging Het
Or6c215 C A 10: 129,637,690 (GRCm39) A235S probably damaging Het
Pclo A G 5: 14,727,033 (GRCm39) probably benign Het
Prss12 A G 3: 123,283,258 (GRCm39) I517V possibly damaging Het
Pwwp3a A G 10: 80,064,865 (GRCm39) K32E probably benign Het
Ripor2 C T 13: 24,798,627 (GRCm39) probably benign Het
Rmnd5b A G 11: 51,516,536 (GRCm39) S274P probably benign Het
Sftpa1 T A 14: 40,854,509 (GRCm39) I32N probably damaging Het
Slc2a12 T A 10: 22,541,246 (GRCm39) I367N probably damaging Het
Sorcs1 T C 19: 50,276,532 (GRCm39) D340G probably damaging Het
Synj1 T C 16: 90,735,877 (GRCm39) K1359E probably benign Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Tcf12 T A 9: 71,775,547 (GRCm39) E421V probably damaging Het
Tecta A T 9: 42,284,371 (GRCm39) F905I probably benign Het
Tmem106a T A 11: 101,474,576 (GRCm39) C58* probably null Het
Tmem131l A T 3: 83,805,689 (GRCm39) F1585I probably damaging Het
Tnks2 T C 19: 36,856,752 (GRCm39) S208P possibly damaging Het
Trim50 A G 5: 135,382,274 (GRCm39) N42S probably benign Het
Tsc22d2 T A 3: 58,367,674 (GRCm39) probably benign Het
Ttll3 T A 6: 113,371,702 (GRCm39) L23H probably damaging Het
Vmn1r10 A G 6: 57,091,218 (GRCm39) Y270C probably benign Het
Ypel3 T C 7: 126,377,537 (GRCm39) V74A possibly damaging Het
Zfp677 A G 17: 21,618,070 (GRCm39) T376A possibly damaging Het
Other mutations in Ppp1r16b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00813:Ppp1r16b APN 2 158,598,885 (GRCm39) missense probably damaging 1.00
IGL01024:Ppp1r16b APN 2 158,582,736 (GRCm39) splice site probably benign
IGL01080:Ppp1r16b APN 2 158,599,092 (GRCm39) missense probably damaging 0.99
IGL02106:Ppp1r16b APN 2 158,588,451 (GRCm39) missense possibly damaging 0.51
IGL03084:Ppp1r16b APN 2 158,603,413 (GRCm39) nonsense probably null
R0037:Ppp1r16b UTSW 2 158,599,129 (GRCm39) missense probably damaging 0.98
R0037:Ppp1r16b UTSW 2 158,599,129 (GRCm39) missense probably damaging 0.98
R0190:Ppp1r16b UTSW 2 158,537,983 (GRCm39) missense probably damaging 1.00
R0294:Ppp1r16b UTSW 2 158,588,523 (GRCm39) missense probably damaging 1.00
R1735:Ppp1r16b UTSW 2 158,603,415 (GRCm39) missense possibly damaging 0.94
R1746:Ppp1r16b UTSW 2 158,588,585 (GRCm39) critical splice donor site probably null
R1847:Ppp1r16b UTSW 2 158,603,355 (GRCm39) missense probably damaging 0.99
R2297:Ppp1r16b UTSW 2 158,603,286 (GRCm39) missense possibly damaging 0.88
R2509:Ppp1r16b UTSW 2 158,603,383 (GRCm39) missense possibly damaging 0.87
R2923:Ppp1r16b UTSW 2 158,598,877 (GRCm39) missense probably damaging 1.00
R3907:Ppp1r16b UTSW 2 158,603,410 (GRCm39) missense probably benign 0.00
R4344:Ppp1r16b UTSW 2 158,591,106 (GRCm39) missense probably damaging 1.00
R4373:Ppp1r16b UTSW 2 158,603,685 (GRCm39) missense probably damaging 1.00
R4423:Ppp1r16b UTSW 2 158,599,174 (GRCm39) missense probably benign 0.00
R4424:Ppp1r16b UTSW 2 158,599,174 (GRCm39) missense probably benign 0.00
R4425:Ppp1r16b UTSW 2 158,599,174 (GRCm39) missense probably benign 0.00
R4623:Ppp1r16b UTSW 2 158,603,383 (GRCm39) missense possibly damaging 0.87
R5436:Ppp1r16b UTSW 2 158,599,253 (GRCm39) intron probably benign
R6029:Ppp1r16b UTSW 2 158,597,137 (GRCm39) missense possibly damaging 0.74
R6816:Ppp1r16b UTSW 2 158,603,595 (GRCm39) missense probably benign 0.00
R6941:Ppp1r16b UTSW 2 158,538,068 (GRCm39) missense probably damaging 1.00
R7048:Ppp1r16b UTSW 2 158,599,174 (GRCm39) missense probably benign 0.00
R7101:Ppp1r16b UTSW 2 158,603,683 (GRCm39) missense probably damaging 1.00
R7255:Ppp1r16b UTSW 2 158,603,311 (GRCm39) missense probably benign 0.41
R7490:Ppp1r16b UTSW 2 158,603,388 (GRCm39) missense probably damaging 0.99
R8300:Ppp1r16b UTSW 2 158,588,571 (GRCm39) missense probably damaging 0.98
R8359:Ppp1r16b UTSW 2 158,603,295 (GRCm39) missense probably benign
R8677:Ppp1r16b UTSW 2 158,593,098 (GRCm39) missense probably damaging 1.00
R8678:Ppp1r16b UTSW 2 158,598,942 (GRCm39) missense probably damaging 1.00
R8678:Ppp1r16b UTSW 2 158,593,098 (GRCm39) missense probably damaging 1.00
R8679:Ppp1r16b UTSW 2 158,593,098 (GRCm39) missense probably damaging 1.00
R8711:Ppp1r16b UTSW 2 158,603,286 (GRCm39) missense possibly damaging 0.88
R8755:Ppp1r16b UTSW 2 158,593,098 (GRCm39) missense probably damaging 1.00
R8756:Ppp1r16b UTSW 2 158,593,098 (GRCm39) missense probably damaging 1.00
R8758:Ppp1r16b UTSW 2 158,593,098 (GRCm39) missense probably damaging 1.00
R9610:Ppp1r16b UTSW 2 158,537,998 (GRCm39) missense probably damaging 1.00
R9611:Ppp1r16b UTSW 2 158,537,998 (GRCm39) missense probably damaging 1.00
X0064:Ppp1r16b UTSW 2 158,593,047 (GRCm39) missense probably benign 0.00
Z1177:Ppp1r16b UTSW 2 158,603,734 (GRCm39) missense probably damaging 1.00
Z1177:Ppp1r16b UTSW 2 158,603,354 (GRCm39) missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- ACATTTGTGCCCTGGGTGAC -3'
(R):5'- TATATTCCAGGAGCAGCAGGG -3'

Sequencing Primer
(F):5'- TGACTGGCAGACTCTGACGAG -3'
(R):5'- GCCCAAGGTCTCAAGTGTATAG -3'
Posted On 2017-08-16