Mutagenetix > Incidental Mutations

Incidental Mutation 'R2655:Prb1'

476526

Institutional Source

Beutler Lab

Gene Symbol

Prb1

Ensembl Gene

ENSMUSG00000067543

Gene Name

proline-rich protein BstNI subfamily 1

Synonyms

proline-rich proteoglycan 2

MMRRC Submission

040430-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R2655 (G1)

Quality Score

139

Status

Not validated

Chromosome

Chromosomal Location

132206795-132210521 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 132210462 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Glutamic Acid at position 19 (Q19E)

Ref Sequence

ENSEMBL: ENSMUSP00000085159 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087853]

Predicted Effect

unknown
Transcript: ENSMUST00000087853
AA Change: Q19E

SMART Domains

Protein: ENSMUSP00000085159
Gene: ENSMUSG00000067543
AA Change: Q19E

Domain	Start	End	E-Value	Type
Pfam:Pro-rich	1	118	6.7e-33	PFAM
Pfam:Pro-rich	115	195	4e-13	PFAM
Pfam:Pro-rich	191	269	2.6e-13	PFAM
Pfam:Pro-rich	229	305	1.2e-10	PFAM
Pfam:Pro-rich	264	342	3.3e-11	PFAM
Pfam:Pro-rich	302	366	7.6e-12	PFAM
Pfam:Pro-rich	338	403	7.5e-11	PFAM
Pfam:Pro-rich	357	434	1.3e-10	PFAM
Pfam:Pro-rich	394	454	1.9e-11	PFAM
Pfam:Pro-rich	430	498	8.8e-12	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot5	T	A	12: 84,075,876	S411R	probably benign	Het
Adamts12	A	T	15: 11,065,088	N20Y	possibly damaging	Het
Bbs9	G	A	9: 22,504,052	E91K	probably damaging	Het
Casp4	C	A	9: 5,322,894	L57I	possibly damaging	Het
Cat	T	C	2: 103,471,846	K169E	probably damaging	Het
Cav1	A	G	6: 17,339,360	Y148C	probably damaging	Het
Cep112	T	C	11: 108,437,201		probably benign	Het
Chaf1b	T	C	16: 93,891,511	S165P	probably damaging	Het
Crat	A	G	2: 30,402,691	S115P	probably damaging	Het
Eif2b1	A	G	5: 124,576,854	S120P	probably damaging	Het
Epor	A	G	9: 21,960,720	S236P	probably damaging	Het
Ggt1	T	A	10: 75,581,385	Y5*	probably null	Het
Igfbpl1	T	C	4: 45,816,289	T179A	probably damaging	Het
Ighv14-4	T	G	12: 114,176,448	Y114S	probably damaging	Het
Ipcef1	T	C	10: 6,979,657	I29V	probably benign	Het
Junb	A	G	8: 84,977,508	S308P	probably damaging	Het
Kcnh5	T	C	12: 75,114,540	E198G	probably damaging	Het
Ltbp1	G	A	17: 75,005,983	R33H	possibly damaging	Het
Map3k20	C	A	2: 72,433,420	T471K	probably damaging	Het
Nr2c2	C	T	6: 92,163,138	R464W	probably damaging	Het
Olfr642	T	C	7: 104,049,431	M308V	probably benign	Het
Olfr955	A	T	9: 39,470,628	S33T	probably benign	Het
Patj	T	C	4: 98,437,450	V508A	possibly damaging	Het
Pkd1	T	C	17: 24,576,490	V2319A	probably damaging	Het
Pnpla7	A	G	2: 25,052,318	Y83C	probably damaging	Het
Rasa3	T	C	8: 13,595,373	T189A	possibly damaging	Het
Reck	T	A	4: 43,938,966	D777E	probably benign	Het
Rfx6	A	G	10: 51,693,777		probably benign	Het
Serpinb13	A	G	1: 107,000,427	D259G	probably damaging	Het
Slit2	G	A	5: 48,189,575	R253Q	possibly damaging	Het
Slu7	A	G	11: 43,440,648	E203G	probably benign	Het
Syt4	A	T	18: 31,443,544	D252E	probably benign	Het
Tpte	A	G	8: 22,311,278		probably null	Het
Ttc25	T	A	11: 100,553,579	W237R	probably damaging	Het
Ttll7	A	G	3: 146,947,621	Y729C	probably damaging	Het
Usp35	T	A	7: 97,312,147	T691S	probably benign	Het
Vmn1r211	A	G	13: 22,852,416	V27A	probably benign	Het
Vmn2r72	T	C	7: 85,751,269	T191A	possibly damaging	Het
Vwa5b1	C	T	4: 138,594,303	G393D	probably damaging	Het

Other mutations in Prb1

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL00670:Prb1	APN	6	132207146	utr 3 prime	probably benign
IGL01017:Prb1	APN	6	132207231	missense	unknown
R0369:Prb1	UTSW	6	132207657	nonsense	probably null
R1500:Prb1	UTSW	6	132207476	missense	unknown
R1544:Prb1	UTSW	6	132209460	critical splice acceptor site	probably null
R1544:Prb1	UTSW	6	132209461	critical splice acceptor site	probably null
R1559:Prb1	UTSW	6	132208544	missense	unknown
R2142:Prb1	UTSW	6	132207203	missense	unknown
R4065:Prb1	UTSW	6	132207695	missense	unknown
R4505:Prb1	UTSW	6	132207570	nonsense	probably null
R5925:Prb1	UTSW	6	132210512	missense	unknown
R6391:Prb1	UTSW	6	132207176	missense	unknown
R6525:Prb1	UTSW	6	132207504	missense	unknown
R6745:Prb1	UTSW	6	132209420	splice site	probably null
R7192:Prb1	UTSW	6	132207372	missense	unknown
R7536:Prb1	UTSW	6	132207221	missense	unknown

Predicted Primers

Posted On

2017-05-11