Incidental Mutation 'IGL00421:Prcc'
| ID |
6850 |
| 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)
|
| Stock # |
IGL00421
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
87766210-87792869 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 87779515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005015
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005015]
|
| AlphaFold |
Q9EQC8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000005015
|
| SMART Domains |
Protein: ENSMUSP00000005015
Gene: ENSMUSG00000004895
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8 |
T |
C |
17: 32,536,254 (GRCm39) |
Y53C |
probably damaging |
Het |
| Ampd3 |
C |
T |
7: 110,402,354 (GRCm39) |
R453C |
probably benign |
Het |
| Apob |
A |
C |
12: 8,060,197 (GRCm39) |
D2860A |
probably damaging |
Het |
| Arhgef1 |
C |
A |
7: 24,607,784 (GRCm39) |
R52S |
possibly damaging |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Cacna1i |
A |
T |
15: 80,266,220 (GRCm39) |
D1569V |
probably damaging |
Het |
| Clic6 |
A |
T |
16: 92,296,196 (GRCm39) |
E285D |
probably damaging |
Het |
| Dok5 |
T |
G |
2: 170,671,876 (GRCm39) |
|
probably null |
Het |
| Gpr89 |
A |
G |
3: 96,805,839 (GRCm39) |
F24S |
probably damaging |
Het |
| Grsf1 |
T |
C |
5: 88,818,137 (GRCm39) |
D84G |
probably damaging |
Het |
| Kif27 |
T |
C |
13: 58,491,703 (GRCm39) |
K479E |
probably damaging |
Het |
| Mx2 |
A |
T |
16: 97,345,678 (GRCm39) |
N32I |
probably damaging |
Het |
| Myo16 |
G |
T |
8: 10,488,889 (GRCm39) |
V687F |
probably damaging |
Het |
| Nlrp3 |
A |
G |
11: 59,456,769 (GRCm39) |
D977G |
probably damaging |
Het |
| Nol6 |
A |
T |
4: 41,123,374 (GRCm39) |
V97E |
possibly damaging |
Het |
| Pcdh15 |
T |
A |
10: 74,021,177 (GRCm39) |
Y130* |
probably null |
Het |
| Pnpla7 |
T |
A |
2: 24,866,327 (GRCm39) |
|
probably null |
Het |
| Pramel51 |
A |
T |
12: 88,143,882 (GRCm39) |
D310E |
probably benign |
Het |
| Sbf2 |
A |
C |
7: 109,975,039 (GRCm39) |
|
probably benign |
Het |
| Secisbp2l |
C |
A |
2: 125,585,776 (GRCm39) |
V859F |
probably damaging |
Het |
| Sptbn2 |
C |
A |
19: 4,774,733 (GRCm39) |
Q129K |
possibly damaging |
Het |
| Srrm2 |
G |
A |
17: 24,031,452 (GRCm39) |
S295N |
probably benign |
Het |
| Tacr3 |
A |
C |
3: 134,560,582 (GRCm39) |
I174L |
probably benign |
Het |
| Tchp |
A |
C |
5: 114,846,794 (GRCm39) |
D27A |
probably benign |
Het |
| Usp31 |
A |
T |
7: 121,247,873 (GRCm39) |
V1190D |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,023,576 (GRCm39) |
T2122A |
probably benign |
Het |
|
| Other mutations in Prcc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation