Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02434:Prb1b'

293200

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prb1b

Ensembl Gene

ENSMUSG00000107874

Gene Name

proline-rich protein BstNI subfamily 1B

Synonyms

MP5, Prpmp5

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.171) question?

Stock #

IGL02434

Quality Score

Status

Chromosome

Chromosomal Location

132288553-132291706 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 132289339 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 162 (R162W)

Ref Sequence

ENSEMBL: ENSMUSP00000047347 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048686]

AlphaFold

E9PXN1

Predicted Effect

unknown
Transcript: ENSMUST00000048686
AA Change: R162W

SMART Domains

Protein: ENSMUSP00000047347
Gene: ENSMUSG00000107874
AA Change: R162W

Domain	Start	End	E-Value	Type
Pfam:Pro-rich	1	136	2.2e-36	PFAM
Pfam:Pro-rich	84	169	6.1e-17	PFAM
Pfam:Pro-rich	131	182	2.5e-10	PFAM
Pfam:Pro-rich	171	228	4.7e-10	PFAM
Pfam:Pro-rich	222	290	1.1e-11	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	C	A	15: 72,992,930 (GRCm39)	G525V	probably damaging	Het
Agxt2	T	C	15: 10,358,686 (GRCm39)	S2P	possibly damaging	Het
Atg2b	C	T	12: 105,605,466 (GRCm39)	V339I	probably benign	Het
Btc	T	A	5: 91,510,186 (GRCm39)	I136F	probably damaging	Het
Cemip	A	T	7: 83,604,492 (GRCm39)	M850K	probably damaging	Het
Cfap54	T	A	10: 92,902,616 (GRCm39)	T179S	probably benign	Het
Chd7	T	C	4: 8,752,145 (GRCm39)	L214P	probably benign	Het
Garnl3	T	A	2: 32,944,217 (GRCm39)	N114I	probably damaging	Het
Gm10010	G	T	6: 128,177,433 (GRCm39)		noncoding transcript	Het
Gstcd	A	G	3: 132,701,963 (GRCm39)		probably benign	Het
Htr2b	A	G	1: 86,038,492 (GRCm39)	V38A	probably benign	Het
Hyal4	G	A	6: 24,763,857 (GRCm39)	W339*	probably null	Het
Ifnb1	A	G	4: 88,440,755 (GRCm39)	V86A	probably damaging	Het
Itpr1	A	G	6: 108,466,883 (GRCm39)		probably null	Het
Jag1	T	C	2: 136,929,075 (GRCm39)	S794G	probably benign	Het
Kdm5c	T	A	X: 151,016,558 (GRCm39)	M1K	probably null	Het
Lct	A	G	1: 128,231,527 (GRCm39)	V774A	probably damaging	Het
Man2a2	G	A	7: 80,009,388 (GRCm39)	A822V	probably damaging	Het
Med14	A	T	X: 12,612,063 (GRCm39)	D371E	possibly damaging	Het
Nrcam	A	G	12: 44,637,026 (GRCm39)		probably benign	Het
Or14j10	T	A	17: 37,935,467 (GRCm39)	N20Y	possibly damaging	Het
Or52e18	A	T	7: 104,609,279 (GRCm39)	M220K	probably benign	Het
Or52e18	A	T	7: 104,609,281 (GRCm39)	Y219*	probably null	Het
Pitpnm1	C	T	19: 4,153,377 (GRCm39)	R178W	probably benign	Het
Prkcg	A	G	7: 3,367,406 (GRCm39)	I324V	probably benign	Het
Prr30	A	T	14: 101,435,804 (GRCm39)	C253S	possibly damaging	Het
Ptgis	A	T	2: 167,082,262 (GRCm39)		probably null	Het
Rab11fip3	C	T	17: 26,287,809 (GRCm39)	A115T	possibly damaging	Het
Reps2	C	T	X: 161,309,253 (GRCm39)		probably null	Het
Rev3l	A	G	10: 39,698,587 (GRCm39)	D1028G	probably damaging	Het
Rsbn1l	T	C	5: 21,124,732 (GRCm39)	R357G	probably damaging	Het
Scn5a	A	G	9: 119,362,859 (GRCm39)	L587P	possibly damaging	Het
Tanc2	C	T	11: 105,670,868 (GRCm39)	T155I	probably benign	Het
Tfb2m	A	G	1: 179,359,700 (GRCm39)		probably benign	Het
Tfpi	A	G	2: 84,282,892 (GRCm39)		probably benign	Het
Tg	T	C	15: 66,636,191 (GRCm39)	S593P	probably damaging	Het
Unc13c	T	C	9: 73,839,910 (GRCm39)	S314G	probably benign	Het

Other mutations in Prb1b

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01392:Prb1b	APN	6	132,289,383 (GRCm39)	missense	unknown
IGL02259:Prb1b	APN	6	132,289,637 (GRCm39)	missense	unknown
IGL03238:Prb1b	APN	6	132,289,308 (GRCm39)	missense	unknown
R0971:Prb1b	UTSW	6	132,290,618 (GRCm39)	missense	unknown
R1900:Prb1b	UTSW	6	132,291,661 (GRCm39)	missense	unknown
R3800:Prb1b	UTSW	6	132,289,657 (GRCm39)	missense	unknown
R3951:Prb1b	UTSW	6	132,289,657 (GRCm39)	missense	unknown
R3952:Prb1b	UTSW	6	132,289,657 (GRCm39)	missense	unknown
R3981:Prb1b	UTSW	6	132,289,657 (GRCm39)	missense	unknown
R4083:Prb1b	UTSW	6	132,289,657 (GRCm39)	missense	unknown
R4348:Prb1b	UTSW	6	132,290,624 (GRCm39)	missense	unknown
R4351:Prb1b	UTSW	6	132,290,624 (GRCm39)	missense	unknown
R4352:Prb1b	UTSW	6	132,290,624 (GRCm39)	missense	unknown
R4353:Prb1b	UTSW	6	132,290,624 (GRCm39)	missense	unknown
R6190:Prb1b	UTSW	6	132,289,692 (GRCm39)	missense	unknown
R7001:Prb1b	UTSW	6	132,289,527 (GRCm39)	missense	unknown
R9023:Prb1b	UTSW	6	132,289,174 (GRCm39)	frame shift	probably null
R9028:Prb1b	UTSW	6	132,289,618 (GRCm39)	missense	unknown
R9193:Prb1b	UTSW	6	132,288,996 (GRCm39)	missense	unknown
R9256:Prb1b	UTSW	6	132,288,972 (GRCm39)	missense	unknown
R9388:Prb1b	UTSW	6	132,289,437 (GRCm39)	missense	unknown
R9644:Prb1b	UTSW	6	132,289,218 (GRCm39)	missense	unknown

Posted On

2015-04-16