Incidental Mutation 'R4376:Prcc'
| ID |
325091 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prcc
|
| Ensembl Gene |
ENSMUSG00000004895 |
| Gene Name |
papillary renal cell carcinoma (translocation-associated) |
| Synonyms |
|
| MMRRC Submission |
041120-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.925)
|
| Stock # |
R4376 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
87766210-87792869 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87774714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 363
(Y363H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005015
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005015]
|
| AlphaFold |
Q9EQC8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005015
AA Change: Y363H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000005015
Gene: ENSMUSG00000004895
AA Change: Y363H
| 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 |
|
| Meta Mutation Damage Score |
0.3963 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
A |
G |
10: 14,314,238 (GRCm39) |
S683P |
probably benign |
Het |
| Adgrg6 |
G |
A |
10: 14,344,794 (GRCm39) |
T53M |
probably damaging |
Het |
| Atp10d |
T |
C |
5: 72,454,318 (GRCm39) |
L189P |
probably damaging |
Het |
| Csf1 |
T |
A |
3: 107,664,055 (GRCm39) |
T38S |
probably damaging |
Het |
| Eaf2 |
A |
G |
16: 36,620,998 (GRCm39) |
L184P |
unknown |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fam83e |
A |
T |
7: 45,373,317 (GRCm39) |
S228C |
probably damaging |
Het |
| Gon4l |
C |
A |
3: 88,814,694 (GRCm39) |
P1888T |
probably benign |
Het |
| Kit |
T |
C |
5: 75,801,159 (GRCm39) |
I515T |
probably benign |
Het |
| Kmt2c |
C |
T |
5: 25,520,324 (GRCm39) |
V1929I |
probably benign |
Het |
| Marchf11 |
A |
G |
15: 26,309,532 (GRCm39) |
E62G |
probably damaging |
Het |
| Mlh3 |
C |
A |
12: 85,305,972 (GRCm39) |
R1175L |
probably benign |
Het |
| Mrps2 |
T |
C |
2: 28,358,871 (GRCm39) |
S67P |
probably benign |
Het |
| Nlrp12 |
A |
G |
7: 3,289,576 (GRCm39) |
L312P |
possibly damaging |
Het |
| Or13f5 |
A |
T |
4: 52,826,195 (GRCm39) |
N266I |
possibly damaging |
Het |
| Or4c122 |
T |
C |
2: 89,079,589 (GRCm39) |
R150G |
possibly damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,105,280 (GRCm39) |
I245N |
possibly damaging |
Het |
| Pank1 |
C |
T |
19: 34,855,104 (GRCm39) |
V4I |
probably benign |
Het |
| Pdia4 |
G |
A |
6: 47,775,326 (GRCm39) |
R495W |
probably damaging |
Het |
| Pfn4 |
T |
A |
12: 4,820,182 (GRCm39) |
D10E |
probably damaging |
Het |
| Plce1 |
T |
C |
19: 38,693,891 (GRCm39) |
|
probably null |
Het |
| Pole |
T |
A |
5: 110,485,071 (GRCm39) |
I395K |
possibly damaging |
Het |
| Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
| Rictor |
T |
C |
15: 6,816,448 (GRCm39) |
V1240A |
probably benign |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| Steep1 |
C |
A |
X: 36,087,812 (GRCm39) |
C206F |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Tsnaxip1 |
C |
A |
8: 106,568,433 (GRCm39) |
C372* |
probably null |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
|
| Other mutations in Prcc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTTAATCCCGAGCACAG -3'
(R):5'- TCTGCCTGGATAGTACCCATG -3'
Sequencing Primer
(F):5'- TTGAACACAGTCCGTAGCTG -3'
(R):5'- CCATGAGGGAGCTGCAGG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation