Incidental Mutation 'IGL01314:Prcc'
ID73789
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prcc
Ensembl Gene ENSMUSG00000004895
Gene Namepapillary renal cell carcinoma (translocation-associated)
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.921) question?
Stock #IGL01314
Quality Score
Status
Chromosome3
Chromosomal Location87858903-87885608 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 87870080 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Tyrosine at position 196 (N196Y)
Ref Sequence ENSEMBL: ENSMUSP00000005015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005015]
Predicted Effect probably damaging
Transcript: ENSMUST00000005015
AA Change: N196Y

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000005015
Gene: ENSMUSG00000004895
AA Change: N196Y

DomainStartEndE-ValueType
low complexity region 8 27 N/A INTRINSIC
low complexity region 42 95 N/A INTRINSIC
low complexity region 101 136 N/A INTRINSIC
low complexity region 229 258 N/A INTRINSIC
Pfam:PRCC 275 490 7.2e-62 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may play a role in pre-mRNA splicing. Chromosomal translocations (X;1)(p11;q21) that result in fusion of this gene to TFE3 (GeneID 7030) have been associated with papillary renal cell carcinoma. A PRCC-TFE3 fusion protein is expressed in affected carcinomas and is likely associated with altered gene transactivation. This fusion protein has also been associated with disruption of the cell cycle.[provided by RefSeq, Aug 2010]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430F08Rik A C 10: 100,573,611 D313E probably damaging Het
Adamts12 C T 15: 11,071,853 A161V probably benign Het
Bptf A T 11: 107,054,853 V2520E probably damaging Het
C87436 T C 6: 86,457,855 F395S probably damaging Het
Capn1 T C 19: 5,989,984 probably benign Het
Ceacam5 T A 7: 17,747,256 Y309* probably null Het
Clasp2 A G 9: 113,906,127 D1011G possibly damaging Het
Csmd3 A G 15: 47,849,755 Y1608H probably damaging Het
Dcaf1 T C 9: 106,834,191 I77T probably benign Het
Dcdc2a T C 13: 25,102,604 L170P probably damaging Het
Ddx28 A G 8: 106,010,580 F282S probably damaging Het
Egf A G 3: 129,686,260 I538T probably benign Het
Emsy A G 7: 98,593,455 V1159A probably benign Het
Fam46c T C 3: 100,473,174 K89E probably benign Het
Hk3 C A 13: 55,007,063 probably benign Het
Htt A G 5: 34,878,856 D2049G probably benign Het
Inpp5d C A 1: 87,683,750 S308* probably null Het
Irf8 A G 8: 120,753,380 Y119C probably damaging Het
Klk1b4 T C 7: 44,211,176 probably null Het
Macf1 A G 4: 123,486,720 S1367P probably damaging Het
Man2c1 A T 9: 57,141,819 H966L probably benign Het
Mgat4e T C 1: 134,541,449 T286A probably damaging Het
Mug2 T C 6: 122,081,279 F1267L possibly damaging Het
Necab1 T A 4: 15,005,079 E128D probably damaging Het
Olfr1331 G A 4: 118,869,131 V117I probably benign Het
Pds5a A G 5: 65,615,294 V1322A probably benign Het
Poc1b C T 10: 99,129,641 T144I probably damaging Het
Psma5 G A 3: 108,279,795 V237M possibly damaging Het
Rap1gds1 A G 3: 139,050,561 L11P probably damaging Het
Rapgef3 A G 15: 97,748,223 F132S probably damaging Het
Rgs13 T G 1: 144,171,441 D14A probably benign Het
Stxbp4 A G 11: 90,621,649 probably benign Het
Tcerg1 C A 18: 42,573,309 A1017D probably damaging Het
Tmem79 T C 3: 88,332,576 I276V possibly damaging Het
Tmem94 C A 11: 115,790,009 H113N probably damaging Het
Vil1 G A 1: 74,428,238 D715N probably damaging Het
Vmn2r96 A G 17: 18,582,964 T187A probably benign Het
Zfhx4 T A 3: 5,413,094 S3590T probably damaging Het
Other mutations in Prcc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00421:Prcc APN 3 87872208 unclassified probably null
IGL01511:Prcc APN 3 87872241 missense probably damaging 1.00
IGL02517:Prcc APN 3 87869677 missense probably damaging 1.00
R4375:Prcc UTSW 3 87867407 missense probably damaging 1.00
R4376:Prcc UTSW 3 87867407 missense probably damaging 1.00
R4377:Prcc UTSW 3 87867407 missense probably damaging 1.00
R5015:Prcc UTSW 3 87872253 missense probably damaging 1.00
R6050:Prcc UTSW 3 87869884 missense probably damaging 0.99
R6259:Prcc UTSW 3 87862147 missense possibly damaging 0.64
Posted OnOct 07, 2013