Incidental Mutation 'IGL02931:Ptpdc1'
ID 364130
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptpdc1
Ensembl Gene ENSMUSG00000038042
Gene Name protein tyrosine phosphatase domain containing 1
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02931
Quality Score
Status
Chromosome 13
Chromosomal Location 48731348-48779140 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 48744095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152409 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035824] [ENSMUST00000222028] [ENSMUST00000223025]
AlphaFold Q6NZK8
Predicted Effect probably benign
Transcript: ENSMUST00000035824
SMART Domains Protein: ENSMUSP00000047374
Gene: ENSMUSG00000038042

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 benign
Transcript: ENSMUST00000222028
Predicted Effect probably benign
Transcript: ENSMUST00000223025
Coding Region Coverage
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 G A 11: 7,029,012 (GRCm39) R254Q probably benign Het
Adgrv1 T C 13: 81,727,833 (GRCm39) Y269C probably damaging Het
Apol7a C A 15: 77,277,650 (GRCm39) E33* probably null Het
Arhgap29 T C 3: 121,786,509 (GRCm39) V358A probably benign Het
B3galt1 T C 2: 67,948,728 (GRCm39) S148P probably damaging Het
BC061237 A G 14: 44,740,779 (GRCm39) N60D possibly damaging Het
Bcl9l C T 9: 44,412,047 (GRCm39) P11L probably damaging Het
Ccdc89 A C 7: 90,076,110 (GRCm39) K107Q probably benign Het
Col27a1 T C 4: 63,249,663 (GRCm39) probably benign Het
Col5a2 T C 1: 45,424,225 (GRCm39) D1067G probably damaging Het
Col9a2 A T 4: 120,910,389 (GRCm39) R511S probably benign Het
Disp3 G A 4: 148,333,658 (GRCm39) S1060F possibly damaging Het
Dusp8 T C 7: 141,636,667 (GRCm39) T308A probably benign Het
Ern1 T C 11: 106,314,266 (GRCm39) N178S probably damaging Het
Gas6 C A 8: 13,527,136 (GRCm39) C204F probably damaging Het
Gga1 T C 15: 78,777,522 (GRCm39) S558P possibly damaging Het
Gli1 T C 10: 127,168,279 (GRCm39) T525A probably benign Het
Gse1 A G 8: 121,304,808 (GRCm39) probably benign Het
Hmcn1 G A 1: 150,532,958 (GRCm39) S3075L probably benign Het
Hnf4a G A 2: 163,408,037 (GRCm39) probably benign Het
Htt A T 5: 35,034,097 (GRCm39) E1894D probably damaging Het
Kcnh8 G A 17: 53,263,650 (GRCm39) E716K probably benign Het
Kntc1 A G 5: 123,937,874 (GRCm39) Y1524C probably damaging Het
Krtap9-5 A G 11: 99,839,931 (GRCm39) T211A unknown Het
Lin54 T C 5: 100,628,180 (GRCm39) I8V possibly damaging Het
Lipe A G 7: 25,082,760 (GRCm39) probably benign Het
Lpin2 T A 17: 71,545,678 (GRCm39) V508E probably damaging Het
Lrrc9 C A 12: 72,500,923 (GRCm39) H216Q probably damaging Het
Lrrn1 T C 6: 107,544,709 (GRCm39) L169P probably damaging Het
Map9 C A 3: 82,284,428 (GRCm39) T334K possibly damaging Het
Msantd5f1 G A 4: 73,605,602 (GRCm39) A338T probably damaging Het
Mst1 A T 9: 107,961,841 (GRCm39) probably null Het
Mtor T A 4: 148,549,421 (GRCm39) F602I probably benign Het
Mylpf T A 7: 126,812,798 (GRCm39) D98E probably benign Het
Naca C A 10: 127,883,551 (GRCm39) Q2059K probably damaging Het
Nefh G A 11: 4,891,356 (GRCm39) T421I possibly damaging Het
Nlrp4g T A 9: 124,348,940 (GRCm38) noncoding transcript Het
Npat C T 9: 53,482,341 (GRCm39) Q1350* probably null Het
Oaz3 T C 3: 94,342,287 (GRCm39) N123S probably benign Het
Patj A G 4: 98,299,410 (GRCm39) probably benign Het
Pgap6 T A 17: 26,336,923 (GRCm39) F280L probably benign Het
Piezo1 A C 8: 123,210,258 (GRCm39) D2224E probably damaging Het
Pnpla7 A T 2: 24,905,241 (GRCm39) I610F possibly damaging Het
Psapl1 A T 5: 36,362,233 (GRCm39) D275V probably damaging Het
Rac2 T C 15: 78,454,947 (GRCm39) E31G possibly damaging Het
Sdhc T C 1: 170,971,124 (GRCm39) probably benign Het
Smim23 G T 11: 32,770,667 (GRCm39) P80T probably damaging Het
Snupn C T 9: 56,864,364 (GRCm39) T21I probably benign Het
Tjp2 A G 19: 24,073,996 (GRCm39) V1097A probably benign Het
Ttc16 A G 2: 32,661,939 (GRCm39) Y164H probably damaging Het
Txlnb A G 10: 17,703,730 (GRCm39) E296G probably damaging Het
Ube2l6 G A 2: 84,633,195 (GRCm39) V34M probably damaging Het
Vwf A C 6: 125,592,931 (GRCm39) S764R possibly damaging Het
Zfand3 A G 17: 30,411,611 (GRCm39) S146G probably benign Het
Zfp280d T G 9: 72,203,307 (GRCm39) F18L probably benign 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
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
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
Posted On 2015-12-18