Incidental Mutation 'R0690:Ptpdc1'
ID 61364
Institutional Source Beutler Lab
Gene Symbol Ptpdc1
Ensembl Gene ENSMUSG00000038042
Gene Name protein tyrosine phosphatase domain containing 1
Synonyms
MMRRC Submission 038875-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0690 (G1)
Quality Score 199
Status Validated
Chromosome 13
Chromosomal Location 48731348-48779140 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48740381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 289 (I289T)
Ref Sequence ENSEMBL: ENSMUSP00000047374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035824] [ENSMUST00000222028] [ENSMUST00000223025]
AlphaFold Q6NZK8
Predicted Effect probably benign
Transcript: ENSMUST00000035824
AA Change: I289T

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000047374
Gene: ENSMUSG00000038042
AA Change: I289T

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: ENSMUST00000221887
Predicted Effect probably benign
Transcript: ENSMUST00000222028
AA Change: I350T

PolyPhen 2 Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000223025
Meta Mutation Damage Score 0.1681 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 97% (87/90)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,860,634 (GRCm39) probably benign Het
Abi3 T C 11: 95,724,460 (GRCm39) probably benign Het
Adam2 T C 14: 66,295,095 (GRCm39) N250S probably damaging Het
Agbl4 T A 4: 111,514,585 (GRCm39) I532K probably benign Het
Agrn T G 4: 156,258,910 (GRCm39) E905A probably damaging Het
Ahi1 A G 10: 20,846,742 (GRCm39) probably benign Het
Aifm2 A G 10: 61,562,231 (GRCm39) N89S probably benign Het
Arsj C T 3: 126,231,833 (GRCm39) T193I probably damaging Het
Ascc2 T A 11: 4,632,933 (GRCm39) V702E probably damaging Het
Avpr1b T C 1: 131,528,019 (GRCm39) S181P probably damaging Het
Bcl7a G A 5: 123,490,003 (GRCm39) V56I possibly damaging Het
Cd160 T A 3: 96,713,102 (GRCm39) D54V probably damaging Het
Celsr2 C A 3: 108,322,293 (GRCm39) R173M probably damaging Het
Cfap57 A G 4: 118,426,924 (GRCm39) probably benign Het
Cfap69 G A 5: 5,713,951 (GRCm39) T27I probably damaging Het
Chaf1b T C 16: 93,696,905 (GRCm39) probably benign Het
Cldn8 C T 16: 88,359,527 (GRCm39) V133M probably damaging Het
Col2a1 A T 15: 97,878,073 (GRCm39) V954E unknown Het
Col6a4 T C 9: 105,905,386 (GRCm39) probably benign Het
Col6a6 T C 9: 105,586,685 (GRCm39) M1779V probably benign Het
Coq8b A G 7: 26,941,674 (GRCm39) E253G probably benign Het
Ctse T C 1: 131,602,516 (GRCm39) probably benign Het
Cyp2c29 T A 19: 39,298,170 (GRCm39) N238K probably benign Het
Dcaf1 T A 9: 106,723,848 (GRCm39) probably benign Het
Dcc A T 18: 71,942,275 (GRCm39) probably benign Het
Dkk1 A G 19: 30,526,745 (GRCm39) F12S probably benign Het
Dnah6 A G 6: 73,106,457 (GRCm39) V1760A probably benign Het
Fam117b G A 1: 59,997,512 (GRCm39) S288N possibly damaging Het
Fam216a A T 5: 122,505,709 (GRCm39) M110K probably damaging Het
Frem3 T A 8: 81,340,581 (GRCm39) I958N possibly damaging Het
Gab1 T A 8: 81,526,745 (GRCm39) N118Y probably damaging Het
Gda T A 19: 21,387,251 (GRCm39) I251L probably benign Het
Gli2 C A 1: 118,772,190 (GRCm39) R505L probably damaging Het
Gm5093 A T 17: 46,750,664 (GRCm39) I121N possibly damaging Het
Gpnmb C T 6: 49,024,949 (GRCm39) S327L probably benign Het
Gpr156 T A 16: 37,812,503 (GRCm39) Y280N probably damaging Het
Gria4 A G 9: 4,427,071 (GRCm39) Y790H probably damaging Het
Guf1 C A 5: 69,723,695 (GRCm39) probably null Het
H6pd T C 4: 150,067,030 (GRCm39) E452G possibly damaging Het
Herc1 T A 9: 66,294,120 (GRCm39) Y487* probably null Het
Ifi30 T A 8: 71,217,593 (GRCm39) probably benign Het
Klf13 G A 7: 63,587,819 (GRCm39) A159V possibly damaging Het
Med11 T A 11: 70,344,052 (GRCm39) M124K possibly damaging Het
Myom3 A G 4: 135,515,737 (GRCm39) probably benign Het
Nat2 A T 8: 67,954,456 (GRCm39) I189F probably damaging Het
Nhlrc4 C G 17: 26,162,658 (GRCm39) G30R probably damaging Het
Nkx3-2 G A 5: 41,919,470 (GRCm39) R173C probably damaging Het
Nox3 T C 17: 3,745,839 (GRCm39) N23S probably damaging Het
Npr2 A T 4: 43,646,991 (GRCm39) Y708F probably damaging Het
Nsun2 A G 13: 69,777,661 (GRCm39) N409S probably benign Het
Nucb2 T C 7: 116,135,086 (GRCm39) probably benign Het
Or13a26 T C 7: 140,284,700 (GRCm39) F179L possibly damaging Het
Or5be3 A G 2: 86,864,226 (GRCm39) F113S probably damaging Het
Or8b12 T C 9: 37,657,513 (GRCm39) F28L probably benign Het
Orai2 A T 5: 136,190,453 (GRCm39) V52D probably damaging Het
Pcyox1 A T 6: 86,371,424 (GRCm39) M154K probably damaging Het
Pik3r4 C A 9: 105,531,175 (GRCm39) T492K possibly damaging Het
Pmpca T A 2: 26,281,109 (GRCm39) Y150N probably damaging Het
Ppp1r12b G T 1: 134,803,820 (GRCm39) S446R probably damaging Het
Pyroxd2 A G 19: 42,716,081 (GRCm39) probably benign Het
Qrfpr G A 3: 36,243,708 (GRCm39) T131M probably damaging Het
Rab33b A G 3: 51,400,838 (GRCm39) Y104C probably damaging Het
Rad54l G T 4: 115,956,947 (GRCm39) probably benign Het
Rad9a A T 19: 4,247,359 (GRCm39) probably null Het
Slc1a5 A T 7: 16,520,829 (GRCm39) M233L probably benign Het
Slc47a2 C T 11: 61,233,330 (GRCm39) V67I possibly damaging Het
Slco1a5 T A 6: 142,214,004 (GRCm39) Y39F probably benign Het
Slfn5 T C 11: 82,852,229 (GRCm39) V785A probably damaging Het
Sp6 C T 11: 96,912,370 (GRCm39) P28S possibly damaging Het
Sptbn5 A G 2: 119,893,156 (GRCm39) probably null Het
Sry ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG Y: 2,662,944 (GRCm39) probably benign Het
St8sia1 A G 6: 142,774,980 (GRCm39) W200R probably damaging Het
Stxbp1 C A 2: 32,690,707 (GRCm39) probably benign Het
Syne1 A G 10: 4,983,138 (GRCm39) probably benign Het
Thbs3 T A 3: 89,127,472 (GRCm39) I371N possibly damaging Het
Tll1 C T 8: 64,527,324 (GRCm39) S399N probably damaging Het
Tmem209 A C 6: 30,505,833 (GRCm39) C114G probably null Het
Tmem25 C T 9: 44,706,811 (GRCm39) probably benign Het
Tmem8b T C 4: 43,674,562 (GRCm39) I282T possibly damaging Het
Trdmt1 T A 2: 13,549,391 (GRCm39) H18L probably benign Het
Trim63 A G 4: 134,043,716 (GRCm39) T60A probably benign Het
Trpv2 T C 11: 62,475,502 (GRCm39) probably null Het
Ubr2 A T 17: 47,249,579 (GRCm39) I1591K probably damaging Het
Use1 A T 8: 71,819,709 (GRCm39) probably benign Het
Zfp850 A T 7: 27,684,642 (GRCm39) C35S possibly 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
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
R5894:Ptpdc1 UTSW 13 48,743,798 (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'- ATCCTGATTCTCGAACTCGGCCAC -3'
(R):5'- GCAACAAGAATGACTGCTGACCAAG -3'

Sequencing Primer
(F):5'- CAGTGGGGTTAAACGGGTC -3'
(R):5'- GCTGACCAAGCAATTATATTTGTTCG -3'
Posted On 2013-07-30