Incidental Mutation 'IGL01314:Prcc'
ID 73789
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prcc
Ensembl Gene ENSMUSG00000004895
Gene Name papillary renal cell carcinoma (translocation-associated)
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.925) question?
Stock # IGL01314
Quality Score
Status
Chromosome 3
Chromosomal Location 87766210-87792869 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87777387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 196 (N196Y)
Ref Sequence ENSEMBL: ENSMUSP00000005015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005015]
AlphaFold Q9EQC8
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
Adamts12 C T 15: 11,071,939 (GRCm39) A161V probably benign Het
Bptf A T 11: 106,945,679 (GRCm39) V2520E probably damaging Het
C87436 T C 6: 86,434,837 (GRCm39) F395S probably damaging Het
Capn1 T C 19: 6,040,014 (GRCm39) probably benign Het
Ceacam5 T A 7: 17,481,181 (GRCm39) Y309* probably null Het
Clasp2 A G 9: 113,735,195 (GRCm39) D1011G possibly damaging Het
Csmd3 A G 15: 47,713,151 (GRCm39) Y1608H probably damaging Het
Dcaf1 T C 9: 106,711,390 (GRCm39) I77T probably benign Het
Dcdc2a T C 13: 25,286,587 (GRCm39) L170P probably damaging Het
Ddx28 A G 8: 106,737,212 (GRCm39) F282S probably damaging Het
Egf A G 3: 129,479,909 (GRCm39) I497T probably benign Het
Emsy A G 7: 98,242,662 (GRCm39) V1159A probably benign Het
Hk3 C A 13: 55,154,876 (GRCm39) probably benign Het
Htt A G 5: 35,036,200 (GRCm39) D2049G probably benign Het
Inpp5d C A 1: 87,611,472 (GRCm39) S45* probably null Het
Irf8 A G 8: 121,480,119 (GRCm39) Y119C probably damaging Het
Klk1b4 T C 7: 43,860,600 (GRCm39) probably null Het
Macf1 A G 4: 123,380,513 (GRCm39) S1273P probably damaging Het
Man2c1 A T 9: 57,049,103 (GRCm39) H867L probably benign Het
Mgat4e T C 1: 134,469,187 (GRCm39) T286A probably damaging Het
Mug2 T C 6: 122,058,238 (GRCm39) F1267L possibly damaging Het
Necab1 T A 4: 15,005,079 (GRCm39) E128D probably damaging Het
Or10ak9 G A 4: 118,726,328 (GRCm39) V117I probably benign Het
Pds5a A G 5: 65,772,637 (GRCm39) V1322A probably benign Het
Poc1b C T 10: 98,965,503 (GRCm39) T144I probably damaging Het
Psma5 G A 3: 108,187,111 (GRCm39) V237M possibly damaging Het
Rap1gds1 A G 3: 138,756,322 (GRCm39) L11P probably damaging Het
Rapgef3 A G 15: 97,646,104 (GRCm39) F132S probably damaging Het
Rgs13 T G 1: 144,047,179 (GRCm39) D14A probably benign Het
Rlig1 A C 10: 100,409,473 (GRCm39) D313E probably damaging Het
Stxbp4 A G 11: 90,512,475 (GRCm39) probably benign Het
Tcerg1 C A 18: 42,706,374 (GRCm39) A1017D probably damaging Het
Tent5c T C 3: 100,380,490 (GRCm39) K89E probably benign Het
Tmem79 T C 3: 88,239,883 (GRCm39) I276V possibly damaging Het
Tmem94 C A 11: 115,680,835 (GRCm39) H113N probably damaging Het
Vil1 G A 1: 74,467,397 (GRCm39) D715N probably damaging Het
Vmn2r96 A G 17: 18,803,226 (GRCm39) T187A probably benign Het
Zfhx4 T A 3: 5,478,154 (GRCm39) S3590T probably damaging Het
Other mutations in Prcc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00421:Prcc APN 3 87,779,515 (GRCm39) critical splice donor site probably null
IGL01511:Prcc APN 3 87,779,548 (GRCm39) missense probably damaging 1.00
IGL02517:Prcc APN 3 87,776,984 (GRCm39) missense probably damaging 1.00
R4375:Prcc UTSW 3 87,774,714 (GRCm39) missense probably damaging 1.00
R4376:Prcc UTSW 3 87,774,714 (GRCm39) missense probably damaging 1.00
R4377:Prcc UTSW 3 87,774,714 (GRCm39) missense probably damaging 1.00
R5015:Prcc UTSW 3 87,779,560 (GRCm39) missense probably damaging 1.00
R6050:Prcc UTSW 3 87,777,191 (GRCm39) missense probably damaging 0.99
R6259:Prcc UTSW 3 87,769,454 (GRCm39) missense possibly damaging 0.64
R7255:Prcc UTSW 3 87,777,398 (GRCm39) missense probably damaging 0.98
R7347:Prcc UTSW 3 87,776,988 (GRCm39) missense possibly damaging 0.89
R7825:Prcc UTSW 3 87,777,052 (GRCm39) missense possibly damaging 0.47
R8966:Prcc UTSW 3 87,792,232 (GRCm39) missense probably damaging 1.00
R9269:Prcc UTSW 3 87,777,038 (GRCm39) missense probably damaging 0.99
R9491:Prcc UTSW 3 87,774,671 (GRCm39) missense probably benign 0.01
Posted On 2013-10-07