Incidental Mutation 'R1387:Ptpdc1'
ID 162451
Institutional Source Beutler Lab
Gene Symbol Ptpdc1
Ensembl Gene ENSMUSG00000038042
Gene Name protein tyrosine phosphatase domain containing 1
Synonyms
MMRRC Submission 039449-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1387 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 48731348-48779140 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 48739796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 545 (V545E)
Ref Sequence ENSEMBL: ENSMUSP00000152771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035824] [ENSMUST00000222028] [ENSMUST00000223025]
AlphaFold Q6NZK8
Predicted Effect possibly damaging
Transcript: ENSMUST00000035824
AA Change: V484E

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000047374
Gene: ENSMUSG00000038042
AA Change: V484E

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 possibly damaging
Transcript: ENSMUST00000222028
AA Change: V545E

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000223025
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.1%
  • 20x: 88.4%
Validation Efficiency 99% (82/83)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610303G11Rik T A 9: 98,068,812 (GRCm39) noncoding transcript Het
4930447C04Rik C A 12: 72,962,208 (GRCm39) R52L probably benign Het
Abca13 C T 11: 9,632,085 (GRCm39) Q5002* probably null Het
Acacb T C 5: 114,338,573 (GRCm39) I761T probably benign Het
Acap3 G T 4: 155,983,937 (GRCm39) L134F probably benign Het
Adamtsl1 T C 4: 86,293,230 (GRCm39) probably benign Het
Adgrv1 A G 13: 81,641,295 (GRCm39) V3278A possibly damaging Het
Agxt2 T C 15: 10,380,696 (GRCm39) Y196H probably damaging Het
Akap13 T C 7: 75,235,941 (GRCm39) V172A probably damaging Het
Aqp8 A G 7: 123,065,891 (GRCm39) I229V probably benign Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
Brd10 A G 19: 29,700,853 (GRCm39) I812T probably benign Het
Cacng8 T C 7: 3,463,672 (GRCm39) S275P possibly damaging Het
Catsperg1 T C 7: 28,906,289 (GRCm39) Y138C probably damaging Het
Ccdc93 T G 1: 121,418,918 (GRCm39) L491R probably damaging Het
Cntnap2 T C 6: 47,084,848 (GRCm39) V1103A probably benign Het
Col12a1 C T 9: 79,588,657 (GRCm39) probably benign Het
Col6a3 A G 1: 90,750,138 (GRCm39) probably benign Het
Csf2rb2 C T 15: 78,182,414 (GRCm39) A6T probably damaging Het
Cyp2j5 T A 4: 96,522,522 (GRCm39) S351C probably damaging Het
Cyth1 A G 11: 118,073,172 (GRCm39) probably benign Het
Dock2 A G 11: 34,223,309 (GRCm39) probably benign Het
Duoxa1 T A 2: 122,134,468 (GRCm39) I262F possibly damaging Het
Dync2h1 T C 9: 7,125,816 (GRCm39) D1930G probably benign Het
Eeig1 T C 2: 32,455,635 (GRCm39) S254P possibly damaging Het
Eno1 C T 4: 150,332,590 (GRCm39) probably benign Het
Fam98a T A 17: 75,845,264 (GRCm39) H494L unknown Het
Fcamr C A 1: 130,732,379 (GRCm39) T122K possibly damaging Het
Foxq1 A G 13: 31,743,288 (GRCm39) D130G probably damaging Het
Glb1 T A 9: 114,249,431 (GRCm39) W5R probably damaging Het
Gm17661 GA GAA 2: 90,917,709 (GRCm38) noncoding transcript Het
Gm5431 T A 11: 48,785,842 (GRCm39) R178W possibly damaging Het
Gys2 C T 6: 142,407,009 (GRCm39) V116M probably benign Het
Hif1a C T 12: 73,989,066 (GRCm39) T651I possibly damaging Het
Itgb5 T A 16: 33,720,885 (GRCm39) Y3* probably null Het
Kank3 A G 17: 34,035,205 (GRCm39) N7S possibly damaging Het
Kdm2b G T 5: 123,018,331 (GRCm39) H981Q probably damaging Het
Kdm6a C T X: 18,120,235 (GRCm39) probably benign Het
Kif1a A T 1: 92,983,672 (GRCm39) probably benign Het
Knl1 T A 2: 118,901,211 (GRCm39) S971T possibly damaging Het
Lcn6 T C 2: 25,567,149 (GRCm39) V50A possibly damaging Het
Llgl2 G T 11: 115,743,958 (GRCm39) V762F probably damaging Het
Lpcat4 T C 2: 112,075,021 (GRCm39) F342L probably benign Het
Lrp2 C A 2: 69,287,262 (GRCm39) G3725V probably damaging Het
Map1b T C 13: 99,569,158 (GRCm39) T1188A unknown Het
Mecp2 G A X: 73,079,394 (GRCm39) P362S possibly damaging Het
Mideas C A 12: 84,199,705 (GRCm39) R1005L probably damaging Het
Mmp13 T A 9: 7,282,033 (GRCm39) F445Y possibly damaging Het
Myo5b G T 18: 74,777,272 (GRCm39) probably benign Het
Myo7b A G 18: 32,116,805 (GRCm39) probably benign Het
Nadk2 C A 15: 9,106,870 (GRCm39) L384I possibly damaging Het
Napg A G 18: 63,119,283 (GRCm39) I98V possibly damaging Het
Ncoa1 G T 12: 4,324,790 (GRCm39) N1041K probably benign Het
Nmu A T 5: 76,497,992 (GRCm39) C64* probably null Het
Nobox T A 6: 43,284,132 (GRCm39) K13M probably damaging Het
Nos1 T C 5: 118,091,848 (GRCm39) probably benign Het
Nrg2 A G 18: 36,329,792 (GRCm39) V141A probably damaging Het
Or1b1 T G 2: 36,994,880 (GRCm39) I261L probably benign Het
Or2aj5 T C 16: 19,424,777 (GRCm39) I214V probably damaging Het
Or55b4 T A 7: 102,133,911 (GRCm39) I139L probably benign Het
Phldb2 C T 16: 45,646,357 (GRCm39) E71K possibly damaging Het
Pik3r4 T A 9: 105,521,490 (GRCm39) Y19N probably damaging Het
Pkhd1 A C 1: 20,625,447 (GRCm39) probably benign Het
Pogk G T 1: 166,227,707 (GRCm39) P148Q possibly damaging Het
Pten G T 19: 32,775,496 (GRCm39) A79S probably benign Het
Qdpr G C 5: 45,607,480 (GRCm39) probably benign Het
Rhbdd3 T A 11: 5,054,121 (GRCm39) H83Q probably damaging Het
Rnf6 A G 5: 146,148,055 (GRCm39) V321A probably benign Het
Rtf1 T A 2: 119,536,126 (GRCm39) probably null Het
Serpina10 C T 12: 103,594,500 (GRCm39) V240I probably benign Het
Siah2 A G 3: 58,598,935 (GRCm39) V101A possibly damaging Het
Taok3 A G 5: 117,344,720 (GRCm39) K46R probably damaging Het
Tcaf2 A C 6: 42,601,512 (GRCm39) L849R probably damaging Het
Upf3a T C 8: 13,842,118 (GRCm39) F178S probably damaging Het
Vmn1r218 G A 13: 23,321,478 (GRCm39) G195D probably damaging Het
Vmn2r59 A G 7: 41,695,521 (GRCm39) V297A probably damaging Het
Vmn2r70 T A 7: 85,207,969 (GRCm39) Q836L probably benign Het
Zfp473 A G 7: 44,382,365 (GRCm39) V655A probably benign Het
Zic5 A G 14: 122,696,897 (GRCm39) S573P unknown 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
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'- TTCAGCACTCAGTTCAGGCTGC -3'
(R):5'- ACGAGCCATTGCTACATGCCAC -3'

Sequencing Primer
(F):5'- AACTGCGCCTTAGGACTG -3'
(R):5'- TTGCTACATGCCACCAACTC -3'
Posted On 2014-03-17