Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01511:Prcc'

89230

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: 0.929) question?

Stock #

IGL01511

Quality Score

Status

Chromosome

Chromosomal Location

87766210-87792869 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 87779548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 162 (D162A)

Ref Sequence

ENSEMBL: ENSMUSP00000005015 (fasta)

Gene Model

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

AlphaFold

Q9EQC8

Predicted Effect

probably damaging
Transcript: ENSMUST00000005015
AA Change: D162A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000005015
Gene: ENSMUSG00000004895
AA Change: D162A

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,135,136 (GRCm39)	D216E	probably benign	Het
Abcc4	C	A	14: 118,836,753 (GRCm39)	L669F	probably benign	Het
Adam29	C	T	8: 56,324,456 (GRCm39)	G666D	probably damaging	Het
Adat2	T	G	10: 13,435,982 (GRCm39)	M109R	probably null	Het
Atf3	T	A	1: 190,903,693 (GRCm39)	T178S	probably benign	Het
Birc6	T	A	17: 74,933,998 (GRCm39)	Y2522*	probably null	Het
Ccr8	G	A	9: 119,923,691 (GRCm39)	G269R	probably damaging	Het
Ces1a	G	T	8: 93,771,726 (GRCm39)	P24T	probably damaging	Het
Chrna4	C	T	2: 180,670,461 (GRCm39)	V432I	probably benign	Het
Commd8	A	G	5: 72,322,722 (GRCm39)	V65A	probably benign	Het
Cyp2j13	A	G	4: 95,965,552 (GRCm39)	F52L	possibly damaging	Het
Desi1	T	A	15: 81,886,789 (GRCm39)	K45*	probably null	Het
Dmbt1	T	A	7: 130,718,457 (GRCm39)	M1552K	possibly damaging	Het
Dna2	G	A	10: 62,791,093 (GRCm39)	M197I	possibly damaging	Het
Dnah7a	A	C	1: 53,458,754 (GRCm39)	L3795V	probably damaging	Het
Dnai4	T	C	4: 102,905,558 (GRCm39)	D741G	possibly damaging	Het
Fam221b	T	C	4: 43,660,135 (GRCm39)		probably null	Het
Fbxw18	A	T	9: 109,517,889 (GRCm39)	S366T	possibly damaging	Het
Fzd8	A	G	18: 9,213,293 (GRCm39)	Y125C	unknown	Het
Gcsam	T	C	16: 45,436,315 (GRCm39)	Y11H	probably damaging	Het
Gucy2f	G	T	X: 140,944,730 (GRCm39)	D410E	probably damaging	Het
Hdac3	C	T	18: 38,085,648 (GRCm39)	A53T	probably benign	Het
Lamp2	A	G	X: 37,520,752 (GRCm39)	L244P	probably damaging	Het
Lrrk1	A	T	7: 65,915,198 (GRCm39)	F1630Y	possibly damaging	Het
M1ap	C	A	6: 83,005,393 (GRCm39)	D434E	probably benign	Het
Mcmbp	A	G	7: 128,308,888 (GRCm39)	Y378H	probably damaging	Het
Mvb12a	T	A	8: 71,997,946 (GRCm39)	V120E	probably damaging	Het
Nbeal2	A	C	9: 110,458,302 (GRCm39)	W2063G	probably damaging	Het
Neto1	A	C	18: 86,414,033 (GRCm39)	H9P	possibly damaging	Het
Nmu	C	T	5: 76,488,668 (GRCm39)	V126M	probably damaging	Het
Odf2	T	C	2: 29,804,321 (GRCm39)		probably benign	Het
Or2y15	A	G	11: 49,351,043 (GRCm39)	E179G	probably damaging	Het
Pdzrn3	T	C	6: 101,130,217 (GRCm39)	H533R	possibly damaging	Het
Pikfyve	G	T	1: 65,298,028 (GRCm39)	E1586*	probably null	Het
Plcb3	C	A	19: 6,933,211 (GRCm39)	R970L	probably damaging	Het
Plxna3	A	G	X: 73,378,914 (GRCm39)	E686G	probably damaging	Het
Polrmt	T	A	10: 79,575,985 (GRCm39)	Y586F	probably benign	Het
Ppt1	T	A	4: 122,748,218 (GRCm39)	F225I	probably damaging	Het
Ripor1	T	C	8: 106,346,562 (GRCm39)		probably benign	Het
Rnaseh1	A	G	12: 28,709,008 (GRCm39)	H263R	probably damaging	Het
Rnf19b	T	A	4: 128,974,211 (GRCm39)	S490R	probably damaging	Het
Slc15a2	T	A	16: 36,605,088 (GRCm39)	T23S	probably damaging	Het
Slc34a1	T	C	13: 24,003,121 (GRCm39)		probably null	Het
Slc35f4	T	C	14: 49,536,334 (GRCm39)	M434V	probably benign	Het
Slc52a3	C	T	2: 151,846,564 (GRCm39)	T175I	probably benign	Het
Slc5a2	C	T	7: 127,869,794 (GRCm39)	T409M	probably benign	Het
Tbc1d24	A	G	17: 24,400,892 (GRCm39)	S108P	probably benign	Het
Thnsl2	T	G	6: 71,116,777 (GRCm39)	Q125P	probably benign	Het
Ttc13	T	C	8: 125,403,110 (GRCm39)	D672G	probably damaging	Het
Ttn	G	T	2: 76,584,089 (GRCm39)	H14013N	possibly damaging	Het
Unc5a	T	C	13: 55,152,629 (GRCm39)	F792L	probably damaging	Het
Vac14	T	C	8: 111,439,430 (GRCm39)	V669A	possibly damaging	Het
Vmn1r13	A	T	6: 57,187,314 (GRCm39)	M158L	probably benign	Het
Vmn1r220	A	T	13: 23,368,384 (GRCm39)	V104D	probably damaging	Het
Zfp738	A	T	13: 67,831,520 (GRCm39)		probably null	Het
Zscan5b	A	C	7: 6,234,421 (GRCm39)	H149P	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
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

2013-12-03