Mutagenetix > Incidental Mutation

Incidental Mutation 'R9491:Prcc'

716919

Institutional Source

Beutler Lab

Gene Symbol

Prcc

Ensembl Gene

ENSMUSG00000004895

Gene Name

papillary renal cell carcinoma (translocation-associated)

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.929) question?

Stock #

R9491 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87766210-87792869 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87774671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 377 (V377A)

Ref Sequence

ENSEMBL: ENSMUSP00000005015 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005015]

AlphaFold

Q9EQC8

Predicted Effect

probably benign
Transcript: ENSMUST00000005015
AA Change: V377A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000005015
Gene: ENSMUSG00000004895
AA Change: V377A

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy1	G	A	9: 106,312,994 (GRCm39)	T142I	probably damaging	Het
Adcy9	T	C	16: 4,236,052 (GRCm39)	E453G	probably damaging	Het
Ank3	A	C	10: 69,838,339 (GRCm39)		probably null	Het
Asmt	G	A	X: 169,108,405 (GRCm39)	G103D	possibly damaging	Het
Cap2	C	T	13: 46,791,366 (GRCm39)	P290S	possibly damaging	Het
Cfap43	A	T	19: 47,800,505 (GRCm39)		probably null	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Clstn1	T	C	4: 149,731,929 (GRCm39)	S950P	probably damaging	Het
Cluap1	G	A	16: 3,758,732 (GRCm39)	R398Q	probably benign	Het
Cmbl	G	T	15: 31,582,119 (GRCm39)	V39L	probably benign	Het
Dapk1	A	G	13: 60,877,369 (GRCm39)	D536G	probably benign	Het
Ddx3y	T	A	Y: 1,279,465 (GRCm39)	D133V	probably benign	Het
Duox1	T	A	2: 122,156,907 (GRCm39)	S525T	probably benign	Het
Eif2s2	T	C	2: 154,734,630 (GRCm39)		probably benign	Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Gadd45a	A	T	6: 67,012,730 (GRCm39)	D137E	probably benign	Het
Gmppa	A	G	1: 75,415,602 (GRCm39)	D120G	probably damaging	Het
Gpr156	A	T	16: 37,825,704 (GRCm39)	R640S	probably benign	Het
Grik1	A	T	16: 87,746,995 (GRCm39)	M414K		Het
Gtse1	C	T	15: 85,755,734 (GRCm39)	P466L	probably damaging	Het
H6pd	T	A	4: 150,080,366 (GRCm39)	N160Y	probably benign	Het
Hectd4	T	G	5: 121,452,981 (GRCm39)	L496R	probably damaging	Het
Hnrnpk	G	T	13: 58,541,050 (GRCm39)	Q441K	probably benign	Het
Incenp	T	C	19: 9,854,141 (GRCm39)	K637E	unknown	Het
Irgc	C	T	7: 24,132,349 (GRCm39)	R156H	probably benign	Het
Kazn	C	T	4: 141,845,436 (GRCm39)	A383T		Het
Lmln	A	G	16: 32,890,358 (GRCm39)	E169G	possibly damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mdfic	T	A	6: 15,799,852 (GRCm39)	C326*	probably null	Het
Ncoa1	T	A	12: 4,340,912 (GRCm39)	D840V	probably benign	Het
Nkd1	A	G	8: 89,300,875 (GRCm39)	D81G	probably benign	Het
Or5an1c	T	C	19: 12,218,606 (GRCm39)	T140A	probably benign	Het
Or8c10	T	C	9: 38,278,971 (GRCm39)	V33A	possibly damaging	Het
Parp4	G	A	14: 56,832,828 (GRCm39)	E384K	probably damaging	Het
Pcdhgb4	T	A	18: 37,854,895 (GRCm39)	L430H	probably damaging	Het
Pdgfrb	A	G	18: 61,212,056 (GRCm39)	Y861C	probably damaging	Het
Pheta1	G	A	5: 121,991,051 (GRCm39)	A138T	probably benign	Het
Pipox	T	A	11: 77,772,359 (GRCm39)	Y337F	probably benign	Het
Prrg2	T	A	7: 44,706,218 (GRCm39)	Y133F	probably damaging	Het
Ptchd3	T	C	11: 121,733,813 (GRCm39)	V901A	probably damaging	Het
Rgl1	A	G	1: 152,424,869 (GRCm39)	L335P	probably damaging	Het
Setx	T	A	2: 29,037,835 (GRCm39)	M1440K	probably benign	Het
Smchd1	A	G	17: 71,667,020 (GRCm39)		probably null	Het
Tbpl2	T	C	2: 23,986,532 (GRCm39)	I6V	probably benign	Het
Tdrd12	T	A	7: 35,188,689 (GRCm39)	H516L		Het
Tmem8b	C	T	4: 43,673,938 (GRCm39)	R190C	probably damaging	Het
Tpmt	A	T	13: 47,180,752 (GRCm39)	S196T	probably benign	Het
Trp63	A	G	16: 25,695,472 (GRCm39)	N478S	unknown	Het
Vstm5	T	G	9: 15,168,586 (GRCm39)	I50S	probably damaging	Het
Wdhd1	A	T	14: 47,505,616 (GRCm39)	C285*	probably null	Het
Zdhhc23	A	C	16: 43,794,062 (GRCm39)	V204G	probably benign	Het
Zfp653	T	A	9: 21,969,622 (GRCm39)	K215*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TGCTTAATCCCGAGCACAG -3'
(R):5'- TGCCTGGATAGTACCCATGAGG -3'

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

Posted On

2022-07-18