Mutagenetix > Incidental Mutation

Incidental Mutation 'R4377:Prcc'

325130

Institutional Source

Beutler Lab

Gene Symbol

Prcc

Ensembl Gene

ENSMUSG00000004895

Gene Name

papillary renal cell carcinoma (translocation-associated)

Synonyms

MMRRC Submission

041676-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.925) question?

Stock #

R4377 (G1)

Quality Score

225

Status

Validated

Chromosome

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: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (57/58)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck5	A	G	15: 76,478,535 (GRCm39)		probably benign	Het
Arhgap22	A	G	14: 33,091,467 (GRCm39)	M681V	probably damaging	Het
Armh4	T	A	14: 50,007,893 (GRCm39)	T527S	probably damaging	Het
Atp10d	T	C	5: 72,454,318 (GRCm39)	L189P	probably damaging	Het
BC034090	A	G	1: 155,108,196 (GRCm39)	C384R	probably benign	Het
Ccdc180	T	A	4: 45,941,877 (GRCm39)	L1380Q	probably damaging	Het
Cd209c	T	C	8: 4,004,635 (GRCm39)		noncoding transcript	Het
Cenpp	A	G	13: 49,647,907 (GRCm39)		probably benign	Het
Csf1	T	A	3: 107,664,055 (GRCm39)	T38S	probably damaging	Het
Csn1s2a	T	C	5: 87,923,680 (GRCm39)	V12A	probably benign	Het
Dapk1	A	G	13: 60,867,498 (GRCm39)	D235G	probably benign	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Frmd3	T	A	4: 74,046,535 (GRCm39)		probably null	Het
Gart	G	A	16: 91,430,982 (GRCm39)	A360V	probably benign	Het
Gm7251	T	A	13: 49,958,676 (GRCm39)		noncoding transcript	Het
Gon4l	C	A	3: 88,814,694 (GRCm39)	P1888T	probably benign	Het
Hk1	C	A	10: 62,151,319 (GRCm39)	K10N	probably damaging	Het
Itgal	A	G	7: 126,927,453 (GRCm39)	Y981C	probably benign	Het
Kcp	C	T	6: 29,493,202 (GRCm39)	C107Y	probably damaging	Het
Kdm2a	C	T	19: 4,379,082 (GRCm39)	V138M	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
Krt33a	T	C	11: 99,903,253 (GRCm39)	E263G	possibly damaging	Het
Mark2	T	C	19: 7,268,054 (GRCm39)	I50V	possibly damaging	Het
Mug2	G	T	6: 122,047,966 (GRCm39)		probably null	Het
Mvk	A	G	5: 114,591,022 (GRCm39)		probably benign	Het
Myh6	T	A	14: 55,199,565 (GRCm39)	I249F	probably damaging	Het
Naa15	T	C	3: 51,355,786 (GRCm39)	I229T	possibly damaging	Het
Napb	A	C	2: 148,574,184 (GRCm39)		probably null	Het
Ncoa3	T	G	2: 165,896,417 (GRCm39)	L440R	possibly damaging	Het
Or52ae7	T	C	7: 103,119,278 (GRCm39)	S11P	probably damaging	Het
Or8g52	T	A	9: 39,631,103 (GRCm39)	F193L	probably benign	Het
Osbpl8	T	A	10: 111,105,280 (GRCm39)	I245N	possibly damaging	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
Plekha5	T	C	6: 140,525,191 (GRCm39)	Y376H	probably damaging	Het
Pole	T	A	5: 110,485,071 (GRCm39)	I395K	possibly damaging	Het
Ptprc	A	T	1: 137,995,663 (GRCm39)	M982K	probably benign	Het
Ptpro	T	A	6: 137,357,264 (GRCm39)	F252I	probably benign	Het
Pusl1	A	G	4: 155,975,037 (GRCm39)	V188A	probably benign	Het
Rad54l2	A	G	9: 106,570,421 (GRCm39)	S1300P	probably benign	Het
Rpl11	G	A	4: 135,778,454 (GRCm39)		probably benign	Het
Rtel1	T	A	2: 180,997,589 (GRCm39)	H1104Q	probably damaging	Het
Setbp1	T	C	18: 78,903,137 (GRCm39)	R177G	probably damaging	Het
Skint6	T	C	4: 113,093,715 (GRCm39)	T143A	possibly 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
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Zfp583	A	G	7: 6,320,680 (GRCm39)	S111P	possibly damaging	Het
Zmiz1	T	C	14: 25,636,434 (GRCm39)	S140P	probably damaging	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
R4376: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'- GCCTTGTGCTTAATCCCGAG -3'
(R):5'- CTGCCTGGATAGTACCCATGAG -3'

Sequencing Primer
(F):5'- TTGAACACAGTCCGTAGCTG -3'
(R):5'- CCATGAGGGAGCTGCAGG -3'

Posted On

2015-07-06