Incidental Mutation 'IGL02517:Prcc'
ID296808
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: 0.919) question?
Stock #IGL02517
Quality Score
Status
Chromosome3
Chromosomal Location87858903-87885608 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 87869677 bp
ZygosityHeterozygous
Amino Acid Change Serine to Asparagine at position 330 (S330N)
Ref Sequence ENSEMBL: ENSMUSP00000005015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005015]
Predicted Effect probably damaging
Transcript: ENSMUST00000005015
AA Change: S330N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000005015
Gene: ENSMUSG00000004895
AA Change: S330N

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,958,868 E1899G probably damaging Het
Acnat2 A T 4: 49,380,639 C228* probably null Het
Acnat2 T G 4: 49,380,647 M244L possibly damaging Het
Adam24 T C 8: 40,680,179 S229P probably damaging Het
Alpk3 T C 7: 81,077,895 S258P probably benign Het
Atad2b A G 12: 5,018,037 T1012A probably benign Het
C4b A T 17: 34,734,408 S1034T probably benign Het
Cd300ld2 T A 11: 115,010,423 H277L possibly damaging Het
Chrna4 C T 2: 181,029,133 V277I probably benign Het
Col3a1 A G 1: 45,325,803 probably null Het
Dpep2 C T 8: 105,988,756 V369M probably damaging Het
Eml2 T A 7: 19,206,130 N815K probably damaging Het
Enpp3 A G 10: 24,809,848 probably benign Het
Git1 T C 11: 77,499,587 V86A probably benign Het
Hivep2 C T 10: 14,131,182 P1175S probably benign Het
Hydin T C 8: 110,566,972 I3517T probably benign Het
Ift172 T A 5: 31,253,648 probably null Het
Jmy A G 13: 93,452,808 I647T probably benign Het
Kifap3 T A 1: 163,825,871 probably benign Het
Lama3 G A 18: 12,537,858 probably null Het
Lipa A C 19: 34,494,122 I351S possibly damaging Het
Ltbp2 G T 12: 84,785,317 A1631D probably benign Het
Masp2 A G 4: 148,614,020 I519M probably damaging Het
Mfsd6 A G 1: 52,663,277 Het
Numa1 T G 7: 102,012,009 D1846E probably benign Het
Olfr12 A T 1: 92,620,461 Y185F probably benign Het
Olfr1440 A T 19: 12,394,901 I213F probably benign Het
Olfr745 A G 14: 50,643,201 T301A probably benign Het
Olfr918 T C 9: 38,672,913 Y177C probably damaging Het
Olfr968 T G 9: 39,772,504 T99P probably damaging Het
Oog3 A T 4: 144,159,350 I226K probably damaging Het
Pkdcc T C 17: 83,223,866 S435P probably damaging Het
Ppm1g A G 5: 31,208,081 Y70H probably damaging Het
Ror2 A T 13: 53,118,840 L251Q probably damaging Het
Scn11a A G 9: 119,792,398 L651P probably damaging Het
Skint6 A T 4: 112,948,540 probably benign Het
Slc23a4 A G 6: 34,954,982 F186L probably benign Het
Slc30a8 A T 15: 52,335,134 D325V probably benign Het
Son C T 16: 91,655,211 T282M possibly damaging Het
Tas2r118 A T 6: 23,969,892 F57I probably damaging Het
Tcf7l1 A G 6: 72,629,983 S447P probably benign Het
Thsd1 T A 8: 22,243,438 V167E probably damaging Het
Tle3 T C 9: 61,414,781 V696A probably damaging Het
Tmem67 A T 4: 12,069,463 I405K possibly damaging Het
Tmem71 A C 15: 66,541,617 V202G probably benign Het
Trim6 T C 7: 104,232,357 probably benign Het
Trip12 A G 1: 84,743,814 probably benign Het
Ubr1 A C 2: 120,864,373 C1693G possibly damaging Het
Ush2a G A 1: 188,915,998 R4600H probably damaging Het
Vil1 A G 1: 74,426,692 I547M probably benign Het
Vmn1r219 A T 13: 23,163,096 I152L probably benign Het
Vmn1r26 A G 6: 58,009,142 F21L possibly damaging Het
Vmn2r45 T A 7: 8,483,186 K368* probably null Het
Vmn2r68 C T 7: 85,221,945 W710* probably null Het
Zfp808 T A 13: 62,173,218 *754R probably null Het
Zyg11b C T 4: 108,266,318 E151K probably damaging Het
Other mutations in Prcc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00421:Prcc APN 3 87872208 critical splice donor site probably null
IGL01314:Prcc APN 3 87870080 missense probably damaging 0.99
IGL01511:Prcc APN 3 87872241 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 On2015-04-16