Incidental Mutation 'R6050:Prcc'
ID 483492
Institutional Source Beutler Lab
Gene Symbol Prcc
Ensembl Gene ENSMUSG00000004895
Gene Name papillary renal cell carcinoma (translocation-associated)
Synonyms
MMRRC Submission 044218-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.925) question?
Stock # R6050 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 87766210-87792869 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 87777191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 261 (T261I)
Ref Sequence ENSEMBL: ENSMUSP00000005015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005015]
AlphaFold Q9EQC8
Predicted Effect probably damaging
Transcript: ENSMUST00000005015
AA Change: T261I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000005015
Gene: ENSMUSG00000004895
AA Change: T261I

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Ahdc1 A G 4: 132,793,202 (GRCm39) D1481G possibly damaging Het
Ak9 A G 10: 41,265,108 (GRCm39) E955G possibly damaging Het
Aox3 T C 1: 58,219,814 (GRCm39) F1138S possibly damaging Het
Bbs2 T A 8: 94,819,160 (GRCm39) N70Y probably damaging Het
BC048679 T C 7: 81,145,339 (GRCm39) I70V possibly damaging Het
Catspere2 G A 1: 177,931,490 (GRCm39) A470T unknown Het
Ccdc141 G T 2: 76,842,075 (GRCm39) A1452E probably benign Het
Celsr1 T C 15: 85,814,812 (GRCm39) D1883G probably benign Het
Clhc1 A G 11: 29,511,397 (GRCm39) I280M possibly damaging Het
Cmtr1 G T 17: 29,901,108 (GRCm39) K678N probably damaging Het
Daam2 T C 17: 49,793,530 (GRCm39) D329G possibly damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Duox1 C T 2: 122,149,956 (GRCm39) P116S probably benign Het
Fcf1 G A 12: 85,029,017 (GRCm39) C154Y probably damaging Het
Frem2 T C 3: 53,560,433 (GRCm39) N1358S probably damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Gtf3c3 T C 1: 54,445,229 (GRCm39) I608M probably benign Het
Gzf1 G A 2: 148,526,158 (GRCm39) D210N possibly damaging Het
Ift140 C T 17: 25,309,979 (GRCm39) R1129C probably damaging Het
Lias A G 5: 65,551,315 (GRCm39) I83V possibly damaging Het
Mlh3 T C 12: 85,287,620 (GRCm39) T1342A possibly damaging Het
Mn1 A G 5: 111,567,263 (GRCm39) Y411C probably damaging Het
Mrps21 C T 3: 95,770,200 (GRCm39) R43H probably benign Het
Ncam2 C T 16: 81,240,054 (GRCm39) Q172* probably null Het
Notch3 T C 17: 32,362,501 (GRCm39) T1375A probably benign Het
Oga A C 19: 45,753,919 (GRCm39) S652A possibly damaging Het
Ovol3 T A 7: 29,933,819 (GRCm39) Y101F probably benign Het
Pcbp4 T C 9: 106,339,422 (GRCm39) V45A probably benign Het
Plec T C 15: 76,072,458 (GRCm39) E709G probably damaging Het
Psg25 A G 7: 18,260,403 (GRCm39) V165A probably benign Het
Rfk C T 19: 17,376,896 (GRCm39) P133S probably benign Het
Scaf8 C T 17: 3,218,383 (GRCm39) T251M unknown Het
Sec14l2 T C 11: 4,061,477 (GRCm39) D67G probably benign Het
Smtnl1 A G 2: 84,641,797 (GRCm39) I441T probably damaging Het
Tbce C T 13: 14,173,019 (GRCm39) V471I possibly damaging Het
Tnip1 G A 11: 54,808,703 (GRCm39) R495C probably damaging Het
Trbv19 A G 6: 41,155,944 (GRCm39) K105R probably benign Het
Ttc5 T A 14: 51,010,744 (GRCm39) N229I probably damaging Het
Ush2a T C 1: 188,689,521 (GRCm39) F5028L probably benign Het
Vmn2r24 T C 6: 123,792,691 (GRCm39) S673P probably damaging Het
Zfp780b A T 7: 27,663,727 (GRCm39) I276N probably damaging Het
Other mutations in Prcc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00421:Prcc APN 3 87,779,515 (GRCm39) critical splice donor site probably null
IGL01314:Prcc APN 3 87,777,387 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- CCGCCATCTTAAACTCAAGGGG -3'
(R):5'- AAAGAGACTAACAGGTTGCTCC -3'

Sequencing Primer
(F):5'- GAAAGCTGGTTCTGGTTC -3'
(R):5'- AGGTTGCTCCTGCCCCATG -3'
Posted On 2017-07-14