Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02259:Prb1b'

286668

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 #

IGL02259

Quality Score

Status

Chromosome

Chromosomal Location

132288553-132291706 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 132289637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 62 (D62E)

Ref Sequence

ENSEMBL: ENSMUSP00000047347 (fasta)

Gene Model

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

AlphaFold

E9PXN1

Predicted Effect

unknown
Transcript: ENSMUST00000048686
AA Change: D62E

SMART Domains

Protein: ENSMUSP00000047347
Gene: ENSMUSG00000107874
AA Change: D62E

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ang6	A	G	14: 44,239,363 (GRCm39)	F122L	probably benign	Het
Atm	A	T	9: 53,429,794 (GRCm39)		probably benign	Het
Ccsap	G	A	8: 124,572,166 (GRCm39)	T112M	possibly damaging	Het
Cd63	T	C	10: 128,747,843 (GRCm39)	S113P	probably benign	Het
Cntnap5c	T	C	17: 58,341,857 (GRCm39)	F183L	probably damaging	Het
Cux1	T	A	5: 136,355,687 (GRCm39)	S321C	probably damaging	Het
Cyp2ab1	G	A	16: 20,131,897 (GRCm39)	T281I	probably damaging	Het
Cyp2c40	A	C	19: 39,792,246 (GRCm39)	C233G	probably benign	Het
Dnah8	T	C	17: 30,978,588 (GRCm39)	I2955T	probably benign	Het
Drc7	A	G	8: 95,782,733 (GRCm39)	T33A	probably benign	Het
Gigyf2	T	A	1: 87,339,559 (GRCm39)	Y481N	probably damaging	Het
Gsap	A	T	5: 21,391,398 (GRCm39)	E13V	probably benign	Het
Ifna4	A	G	4: 88,760,293 (GRCm39)	K66E	probably damaging	Het
Kif14	T	A	1: 136,427,840 (GRCm39)	M1103K	probably benign	Het
Kif6	A	T	17: 50,202,919 (GRCm39)		probably benign	Het
Lsm14a	G	T	7: 34,070,558 (GRCm39)	P113T	probably damaging	Het
Med12l	T	A	3: 59,153,264 (GRCm39)	N1096K	probably damaging	Het
Med13	C	A	11: 86,248,327 (GRCm39)	G9W	possibly damaging	Het
Minar1	A	T	9: 89,484,412 (GRCm39)	H328Q	possibly damaging	Het
Nbr1	G	A	11: 101,468,816 (GRCm39)	A639T	probably damaging	Het
Nid2	G	T	14: 19,818,277 (GRCm39)		probably null	Het
Numa1	A	G	7: 101,636,955 (GRCm39)	D22G	possibly damaging	Het
Or13p10	G	A	4: 118,523,634 (GRCm39)	V307I	probably benign	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Phkg2	A	G	7: 127,181,458 (GRCm39)		probably benign	Het
Plcb4	T	C	2: 135,752,166 (GRCm39)		probably null	Het
Plch1	C	T	3: 63,630,170 (GRCm39)		probably null	Het
Prl8a1	A	C	13: 27,766,089 (GRCm39)	V2G	probably benign	Het
Spata31	T	C	13: 65,069,297 (GRCm39)	S482P	possibly damaging	Het
Tbc1d4	A	G	14: 101,703,166 (GRCm39)	C760R	probably damaging	Het
Tgs1	A	G	4: 3,604,743 (GRCm39)	N722D	probably damaging	Het
Tmcc2	T	C	1: 132,288,898 (GRCm39)	D28G	probably benign	Het
Zfp457	C	T	13: 67,444,471 (GRCm39)	A11T	possibly damaging	Het
Zfp879	T	C	11: 50,729,255 (GRCm39)	S48G	probably benign	Het

Other mutations in Prb1b

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01392:Prb1b	APN	6	132,289,383 (GRCm39)	missense	unknown
IGL02434:Prb1b	APN	6	132,289,339 (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