Mutagenetix > Incidental Mutation

Incidental Mutation 'R4505:Prb1a'

331968

Institutional Source

Beutler Lab

Gene Symbol

Prb1a

Ensembl Gene

ENSMUSG00000067543

Gene Name

proline-rich protein BstNI subfamily 1A

Synonyms

Prb1, proline-rich proteoglycan 2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R4505 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

132183758-132187484 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 132184533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 367 (R367*)

Ref Sequence

ENSEMBL: ENSMUSP00000085159 (fasta)

Gene Model

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

AlphaFold

Q91X93

Predicted Effect

probably null
Transcript: ENSMUST00000087853
AA Change: R367*

SMART Domains

Protein: ENSMUSP00000085159
Gene: ENSMUSG00000067543
AA Change: R367*

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: 97.3%
20x: 95.3%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,152,445 (GRCm39)	I1367N	probably damaging	Het
Acbd4	A	G	11: 102,995,605 (GRCm39)		probably benign	Het
Adarb2	A	T	13: 8,747,727 (GRCm39)	S428C	probably damaging	Het
Atl3	T	A	19: 7,498,184 (GRCm39)	D193E	probably benign	Het
Bhlhe22	T	C	3: 18,109,123 (GRCm39)	S58P	probably benign	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Cylc2	C	G	4: 51,229,651 (GRCm39)	T331R	unknown	Het
Epha10	A	G	4: 124,809,480 (GRCm39)		probably benign	Het
Farp2	A	T	1: 93,546,732 (GRCm39)	N917I	probably damaging	Het
Fbh1	A	G	2: 11,753,828 (GRCm39)	V838A	possibly damaging	Het
Fras1	T	A	5: 96,929,207 (GRCm39)	N3870K	probably damaging	Het
Gm6632	C	T	5: 59,211,821 (GRCm39)		noncoding transcript	Het
Gpr20	T	C	15: 73,568,321 (GRCm39)	T23A	probably benign	Het
Grb14	A	C	2: 64,852,912 (GRCm39)	V26G	probably damaging	Het
H2-T5	A	T	17: 36,472,372 (GRCm39)		probably benign	Het
Itgb4	G	A	11: 115,874,087 (GRCm39)		silent	Het
Jak1	T	C	4: 101,011,800 (GRCm39)	T1101A	probably benign	Het
Kcnq3	A	T	15: 65,867,191 (GRCm39)	Y817*	probably null	Het
Krtcap2	A	G	3: 89,153,563 (GRCm39)		probably benign	Het
Lhx5	C	A	5: 120,578,073 (GRCm39)	H298N	possibly damaging	Het
Lrig3	C	T	10: 125,849,216 (GRCm39)	P979S	probably benign	Het
Map3k13	A	G	16: 21,740,928 (GRCm39)	S752G	probably benign	Het
Map4	T	C	9: 109,861,253 (GRCm39)	S206P	probably benign	Het
Mon2	A	G	10: 122,845,494 (GRCm39)	S1405P	probably damaging	Het
Mvb12a	G	T	8: 71,996,103 (GRCm39)	A86S	probably benign	Het
Or5p62	T	C	7: 107,771,175 (GRCm39)	I259V	probably benign	Het
Or8a1b	C	T	9: 37,622,760 (GRCm39)	V272I	probably benign	Het
Pithd1	T	C	4: 135,706,144 (GRCm39)	N37S	probably benign	Het
Piwil4	T	C	9: 14,637,259 (GRCm39)	T352A	probably damaging	Het
Psmb4	A	C	3: 94,793,456 (GRCm39)	Y142D	probably damaging	Het
Ptprs	T	C	17: 56,758,678 (GRCm39)	N181S	possibly damaging	Het
Rcbtb2	T	C	14: 73,411,345 (GRCm39)	L370P	probably damaging	Het
Ric8a	A	G	7: 140,438,429 (GRCm39)	I223V	probably benign	Het
Runx1t1	G	T	4: 13,889,676 (GRCm39)	C535F	probably damaging	Het
Samd4b	A	G	7: 28,106,925 (GRCm39)	M329T	probably benign	Het
Serpinb9g	T	A	13: 33,670,546 (GRCm39)	F11L	probably damaging	Het
Slc25a51	C	T	4: 45,399,768 (GRCm39)	V141M	probably benign	Het
Sp110	T	G	1: 85,516,894 (GRCm39)	Q201P	probably damaging	Het
Taar3	A	G	10: 23,825,471 (GRCm39)	I6V	possibly damaging	Het
Tjp2	T	C	19: 24,086,195 (GRCm39)	T776A	possibly damaging	Het
Tmc1	C	T	19: 20,845,738 (GRCm39)	V162I	probably benign	Het
Upf1	G	A	8: 70,790,216 (GRCm39)	R637C	probably damaging	Het
Ush2a	A	G	1: 188,460,793 (GRCm39)	T2685A	possibly damaging	Het
Vmn2r102	C	T	17: 19,880,845 (GRCm39)	T62I	probably benign	Het
Vps13c	A	T	9: 67,846,316 (GRCm39)	Q2128L	probably benign	Het
Zfp26	T	C	9: 20,353,561 (GRCm39)	E76G	probably benign	Het
Zfp28	T	C	7: 6,397,160 (GRCm39)	S532P	probably damaging	Het

Other mutations in Prb1a

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL00670:Prb1a	APN	6	132,184,109 (GRCm39)	utr 3 prime	probably benign
IGL01017:Prb1a	APN	6	132,184,194 (GRCm39)	missense	unknown
R0369:Prb1a	UTSW	6	132,184,620 (GRCm39)	nonsense	probably null
R1500:Prb1a	UTSW	6	132,184,439 (GRCm39)	missense	unknown
R1544:Prb1a	UTSW	6	132,186,424 (GRCm39)	critical splice acceptor site	probably null
R1544:Prb1a	UTSW	6	132,186,423 (GRCm39)	critical splice acceptor site	probably null
R1559:Prb1a	UTSW	6	132,185,507 (GRCm39)	missense	unknown
R2142:Prb1a	UTSW	6	132,184,166 (GRCm39)	missense	unknown
R2655:Prb1a	UTSW	6	132,187,425 (GRCm39)	missense	unknown
R4065:Prb1a	UTSW	6	132,184,658 (GRCm39)	missense	unknown
R5925:Prb1a	UTSW	6	132,187,475 (GRCm39)	missense	unknown
R6391:Prb1a	UTSW	6	132,184,139 (GRCm39)	missense	unknown
R6525:Prb1a	UTSW	6	132,184,467 (GRCm39)	missense	unknown
R6745:Prb1a	UTSW	6	132,186,383 (GRCm39)	splice site	probably null
R7192:Prb1a	UTSW	6	132,184,335 (GRCm39)	missense	unknown
R7536:Prb1a	UTSW	6	132,184,184 (GRCm39)	missense	unknown
R8483:Prb1a	UTSW	6	132,185,398 (GRCm39)	missense	unknown
R9139:Prb1a	UTSW	6	132,185,306 (GRCm39)	missense	unknown
R9365:Prb1a	UTSW	6	132,184,201 (GRCm39)	missense	unknown
R9559:Prb1a	UTSW	6	132,184,388 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCCTTGTTGGTTACCAGGTC -3'
(R):5'- TCAGCCTGGATACCAACAAGG -3'

Sequencing Primer
(F):5'- CAGGTCTTGGGGGTCCCTG -3'
(R):5'- TATGCCTGGAAACCAACAAGG -3'

Posted On

2015-07-21