Incidental Mutation 'IGL00421:Prcc'
ID6850
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 #IGL00421
Quality Score
Status
Chromosome3
Chromosomal Location87858903-87885608 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 87872208 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000005015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005015]
Predicted Effect probably null
Transcript: ENSMUST00000005015
SMART Domains Protein: ENSMUSP00000005015
Gene: ENSMUSG00000004895

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8 T C 17: 32,317,280 Y53C probably damaging Het
Ampd3 C T 7: 110,803,147 R453C probably benign Het
Apob A C 12: 8,010,197 D2860A probably damaging Het
Arhgef1 C A 7: 24,908,359 R52S possibly damaging Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
Cacna1i A T 15: 80,382,019 D1569V probably damaging Het
Clic6 A T 16: 92,499,308 E285D probably damaging Het
Dok5 T G 2: 170,829,956 probably null Het
Gm10436 A T 12: 88,177,112 D310E probably benign Het
Gpr89 A G 3: 96,898,523 F24S probably damaging Het
Grsf1 T C 5: 88,670,278 D84G probably damaging Het
Kif27 T C 13: 58,343,889 K479E probably damaging Het
Mx2 A T 16: 97,544,478 N32I probably damaging Het
Myo16 G T 8: 10,438,889 V687F probably damaging Het
Nlrp3 A G 11: 59,565,943 D977G probably damaging Het
Nol6 A T 4: 41,123,374 V97E possibly damaging Het
Pcdh15 T A 10: 74,185,345 Y130* probably null Het
Pnpla7 T A 2: 24,976,315 probably null Het
Sbf2 A C 7: 110,375,832 probably benign Het
Secisbp2l C A 2: 125,743,856 V859F probably damaging Het
Sptbn2 C A 19: 4,724,705 Q129K possibly damaging Het
Srrm2 G A 17: 23,812,478 S295N probably benign Het
Tacr3 A C 3: 134,854,821 I174L probably benign Het
Tchp A C 5: 114,708,733 D27A probably benign Het
Usp31 A T 7: 121,648,650 V1190D probably damaging Het
Zfp462 A G 4: 55,023,576 T2122A probably benign Het
Other mutations in Prcc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01314:Prcc APN 3 87870080 missense probably damaging 0.99
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
R7255:Prcc UTSW 3 87870091 missense probably damaging 0.98
R7347:Prcc UTSW 3 87869681 missense possibly damaging 0.89
R7825:Prcc UTSW 3 87869745 missense possibly damaging 0.47
Posted On2012-04-20