Incidental Mutation 'R5894:Ptpdc1'
ID 457407
Institutional Source Beutler Lab
Gene Symbol Ptpdc1
Ensembl Gene ENSMUSG00000038042
Gene Name protein tyrosine phosphatase domain containing 1
Synonyms
MMRRC Submission 043238-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5894 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 48731348-48779140 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48743798 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 201 (F201S)
Ref Sequence ENSEMBL: ENSMUSP00000152771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035824] [ENSMUST00000222028] [ENSMUST00000223025]
AlphaFold Q6NZK8
Predicted Effect probably damaging
Transcript: ENSMUST00000035824
AA Change: F140S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047374
Gene: ENSMUSG00000038042
AA Change: F140S

DomainStartEndE-ValueType
Pfam:DSPc 102 243 1.1e-13 PFAM
Pfam:Y_phosphatase 144 242 8.9e-10 PFAM
low complexity region 598 610 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221424
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221947
Predicted Effect probably damaging
Transcript: ENSMUST00000222028
AA Change: F201S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000223025
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.4%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a centrosomal mitotic phosphatase. This protein has been implicated in centrosomal duplication and cytokinesis. In addition, knockdown of expression levels in non-cycling cells results in extra long cilia, suggesting that this protein may function in regulating cilia length independent of a function in cell cycle control. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik T A 3: 146,356,680 (GRCm39) E76V probably benign Het
Adcy2 A T 13: 68,773,971 (GRCm39) I1024N probably damaging Het
Agr2 A C 12: 36,045,509 (GRCm39) probably benign Het
Alpk2 T A 18: 65,414,143 (GRCm39) H1991L probably damaging Het
Amotl2 T A 9: 102,602,371 (GRCm39) M448K possibly damaging Het
Ankhd1 T A 18: 36,780,577 (GRCm39) F1876L probably damaging Het
Arl14 T C 3: 69,130,009 (GRCm39) V52A probably benign Het
Atp6v1b2 T A 8: 69,560,218 (GRCm39) probably null Het
Bmal2 A G 6: 146,724,732 (GRCm39) T409A possibly damaging Het
Bpifb4 G A 2: 153,782,852 (GRCm39) R19H possibly damaging Het
Cdh9 T A 15: 16,832,186 (GRCm39) L358I possibly damaging Het
Ces2h T G 8: 105,745,658 (GRCm39) I460M probably benign Het
Cog2 T C 8: 125,272,006 (GRCm39) Y507H probably benign Het
Crlf3 T A 11: 79,948,678 (GRCm39) R256W probably damaging Het
Csdc2 T A 15: 81,832,881 (GRCm39) F96I probably damaging Het
Csk A C 9: 57,535,958 (GRCm39) I264S probably damaging Het
Cyp2c29 G C 19: 39,318,833 (GRCm39) A438P possibly damaging Het
Ddx43 G A 9: 78,324,016 (GRCm39) G449D probably damaging Het
Fbxw18 G T 9: 109,529,235 (GRCm39) A106E possibly damaging Het
Fchsd2 C T 7: 100,840,959 (GRCm39) T156I probably benign Het
Frs2 T A 10: 116,917,011 (GRCm39) probably benign Het
Gm57858 C T 3: 36,074,124 (GRCm39) E342K possibly damaging Het
Grid2ip A T 5: 143,374,666 (GRCm39) T922S probably damaging Het
Grm1 A G 10: 10,955,999 (GRCm39) L95P probably damaging Het
Ift140 T C 17: 25,252,893 (GRCm39) V348A possibly damaging Het
Insr A G 8: 3,224,869 (GRCm39) S200P possibly damaging Het
Ints12 A T 3: 132,804,319 (GRCm39) D102V probably damaging Het
Kank1 A G 19: 25,401,564 (GRCm39) D1057G probably damaging Het
Kng1 T A 16: 22,892,113 (GRCm39) D225E probably benign Het
Lama1 A T 17: 68,086,042 (GRCm39) probably null Het
Lpin2 A G 17: 71,553,929 (GRCm39) D882G probably benign Het
Lrp1b A T 2: 41,388,233 (GRCm39) F464Y probably benign Het
Musk G A 4: 58,373,583 (GRCm39) C836Y probably damaging Het
Mx1 C T 16: 97,255,406 (GRCm39) D216N probably damaging Het
Ndrg3 A T 2: 156,770,698 (GRCm39) N350K probably benign Het
Oas3 G A 5: 120,895,019 (GRCm39) P990L probably damaging Het
Or4c111 T A 2: 88,844,399 (GRCm39) N3I probably damaging Het
Or4c12b T C 2: 89,647,557 (GRCm39) S296P possibly damaging Het
Or6c2 A G 10: 129,362,357 (GRCm39) D87G probably damaging Het
Otoa T C 7: 120,721,092 (GRCm39) L369P probably damaging Het
Plcg2 A G 8: 118,231,088 (GRCm39) T57A probably damaging Het
Prune2 A T 19: 17,098,755 (GRCm39) T1420S possibly damaging Het
Rnf214 A G 9: 45,777,916 (GRCm39) V630A probably damaging Het
Rxrb T A 17: 34,254,718 (GRCm39) I181N probably damaging Het
Scrib T C 15: 75,939,581 (GRCm39) N69S probably damaging Het
Scyl2 A G 10: 89,476,681 (GRCm39) S815P probably benign Het
Sgcd A G 11: 47,246,028 (GRCm39) V58A probably damaging Het
Slc13a3 C T 2: 165,266,543 (GRCm39) V374I probably benign Het
Slc22a4 A T 11: 53,888,341 (GRCm39) I229N probably benign Het
Slc44a5 A G 3: 153,962,210 (GRCm39) Y381C probably damaging Het
Sohlh1 A G 2: 25,734,679 (GRCm39) S205P possibly damaging Het
Spata20 T C 11: 94,374,444 (GRCm39) M308V probably damaging Het
Stag3 T G 5: 138,297,100 (GRCm39) I550R probably damaging Het
Tac2 A G 10: 127,561,971 (GRCm39) E25G possibly damaging Het
Tars2 T C 3: 95,654,964 (GRCm39) probably null Het
Tefm G A 11: 80,031,057 (GRCm39) R60C probably damaging Het
Trem3 T C 17: 48,565,483 (GRCm39) V179A probably benign Het
Trim37 G T 11: 87,092,266 (GRCm39) D692Y probably damaging Het
Trpc4ap T C 2: 155,508,133 (GRCm39) T173A probably benign Het
Unc13c C T 9: 73,600,486 (GRCm39) probably null Het
Usp18 A G 6: 121,238,456 (GRCm39) K201R probably benign Het
Usp35 T A 7: 96,962,284 (GRCm39) Y524F probably damaging Het
Usp53 A G 3: 122,752,734 (GRCm39) F208L probably damaging Het
Vmn1r80 A T 7: 11,927,654 (GRCm39) I255F probably damaging Het
Vstm2a A T 11: 16,211,483 (GRCm39) I98F probably benign Het
Wdfy4 T A 14: 32,855,317 (GRCm39) I766F possibly damaging Het
Wdr17 T A 8: 55,149,335 (GRCm39) Y55F probably damaging Het
Xpot T C 10: 121,449,551 (GRCm39) K172R probably damaging Het
Other mutations in Ptpdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00161:Ptpdc1 APN 13 48,740,534 (GRCm39) missense possibly damaging 0.80
IGL01410:Ptpdc1 APN 13 48,740,080 (GRCm39) missense probably damaging 0.99
IGL02931:Ptpdc1 APN 13 48,744,095 (GRCm39) splice site probably benign
IGL03180:Ptpdc1 APN 13 48,739,553 (GRCm39) missense probably damaging 1.00
PIT4519001:Ptpdc1 UTSW 13 48,736,632 (GRCm39) missense probably benign 0.29
PIT4687001:Ptpdc1 UTSW 13 48,739,766 (GRCm39) missense probably benign 0.15
R0014:Ptpdc1 UTSW 13 48,740,395 (GRCm39) nonsense probably null
R0244:Ptpdc1 UTSW 13 48,739,456 (GRCm39) missense probably benign 0.00
R0420:Ptpdc1 UTSW 13 48,742,595 (GRCm39) critical splice donor site probably null
R0690:Ptpdc1 UTSW 13 48,740,381 (GRCm39) missense probably benign 0.33
R0946:Ptpdc1 UTSW 13 48,740,286 (GRCm39) missense probably damaging 1.00
R1076:Ptpdc1 UTSW 13 48,740,286 (GRCm39) missense probably damaging 1.00
R1387:Ptpdc1 UTSW 13 48,739,796 (GRCm39) missense possibly damaging 0.85
R1459:Ptpdc1 UTSW 13 48,740,173 (GRCm39) missense possibly damaging 0.62
R1688:Ptpdc1 UTSW 13 48,739,700 (GRCm39) missense probably benign 0.28
R1732:Ptpdc1 UTSW 13 48,740,021 (GRCm39) missense probably benign 0.00
R2097:Ptpdc1 UTSW 13 48,746,135 (GRCm39) critical splice acceptor site probably null
R2570:Ptpdc1 UTSW 13 48,739,539 (GRCm39) missense probably benign 0.02
R3950:Ptpdc1 UTSW 13 48,742,670 (GRCm39) missense probably damaging 1.00
R4260:Ptpdc1 UTSW 13 48,733,234 (GRCm39) missense probably benign 0.33
R5194:Ptpdc1 UTSW 13 48,740,265 (GRCm39) missense possibly damaging 0.91
R5271:Ptpdc1 UTSW 13 48,744,174 (GRCm39) missense probably damaging 1.00
R5934:Ptpdc1 UTSW 13 48,739,845 (GRCm39) missense probably benign 0.08
R6894:Ptpdc1 UTSW 13 48,744,114 (GRCm39) missense probably benign 0.21
R7056:Ptpdc1 UTSW 13 48,740,466 (GRCm39) missense possibly damaging 0.65
R7436:Ptpdc1 UTSW 13 48,740,142 (GRCm39) missense probably benign 0.01
R7719:Ptpdc1 UTSW 13 48,739,766 (GRCm39) missense probably benign 0.15
R7827:Ptpdc1 UTSW 13 48,733,264 (GRCm39) missense probably damaging 1.00
R7969:Ptpdc1 UTSW 13 48,740,577 (GRCm39) missense probably damaging 1.00
R7986:Ptpdc1 UTSW 13 48,746,046 (GRCm39) missense probably damaging 1.00
R8330:Ptpdc1 UTSW 13 48,751,390 (GRCm39) missense probably benign 0.00
R8500:Ptpdc1 UTSW 13 48,739,759 (GRCm39) nonsense probably null
R8687:Ptpdc1 UTSW 13 48,740,136 (GRCm39) missense possibly damaging 0.90
R8874:Ptpdc1 UTSW 13 48,744,168 (GRCm39) missense probably damaging 1.00
R9130:Ptpdc1 UTSW 13 48,739,655 (GRCm39) missense probably benign 0.04
R9284:Ptpdc1 UTSW 13 48,740,167 (GRCm39) missense probably benign 0.04
R9290:Ptpdc1 UTSW 13 48,740,221 (GRCm39) missense probably benign 0.02
R9309:Ptpdc1 UTSW 13 48,736,607 (GRCm39) missense probably benign 0.00
R9359:Ptpdc1 UTSW 13 48,740,030 (GRCm39) missense probably benign 0.38
R9369:Ptpdc1 UTSW 13 48,736,722 (GRCm39) missense possibly damaging 0.95
R9661:Ptpdc1 UTSW 13 48,739,610 (GRCm39) missense probably benign 0.34
Predicted Primers PCR Primer
(F):5'- GGCACTAACTGAATGGAGCC -3'
(R):5'- CGGGCAGTGAAGAGCTGATTTC -3'

Sequencing Primer
(F):5'- GCACTAACTGAATGGAGCCTTTTTAC -3'
(R):5'- GCTGATTTCATATAAAAGTTTGAGGG -3'
Posted On 2017-02-15