Mutagenetix > Incidental Mutation

Incidental Mutation 'R4348:Prb1b'

328399

Institutional Source

Beutler Lab

Gene Symbol

Prb1b

Ensembl Gene

ENSMUSG00000107874

Gene Name

proline-rich protein BstNI subfamily 1B

Synonyms

MP5, Prpmp5

MMRRC Submission

041103-MU

Accession Numbers

Essential gene?

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

Stock #

R4348 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

132288553-132291706 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 132290624 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 25 (Y25S)

Ref Sequence

ENSEMBL: ENSMUSP00000047347 (fasta)

Gene Model

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

AlphaFold

E9PXN1

Predicted Effect

unknown
Transcript: ENSMUST00000048686
AA Change: Y25S

SMART Domains

Protein: ENSMUSP00000047347
Gene: ENSMUSG00000107874
AA Change: Y25S

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
Aass	A	G	6: 23,113,738 (GRCm39)	F235L	probably benign	Het
Adamts1	T	A	16: 85,599,234 (GRCm39)	D122V	probably benign	Het
Adcy6	A	T	15: 98,502,041 (GRCm39)	V191E	probably benign	Het
Cngb3	G	A	4: 19,396,688 (GRCm39)	R347Q	probably damaging	Het
Cntnap4	T	A	8: 113,480,554 (GRCm39)	C334S	probably damaging	Het
D7Ertd443e	ACCTAGGAGGTCCT	ACCT	7: 133,950,682 (GRCm39)		probably null	Het
Dnah12	T	A	14: 26,536,498 (GRCm39)	M2138K	possibly damaging	Het
Ebf2	T	C	14: 67,476,871 (GRCm39)	I138T	probably damaging	Het
Ect2l	A	G	10: 18,012,736 (GRCm39)	S784P	probably damaging	Het
Emilin2	T	C	17: 71,587,726 (GRCm39)	M129V	probably benign	Het
Enah	A	T	1: 181,749,985 (GRCm39)	S266T	possibly damaging	Het
Fhip1b	A	G	7: 105,034,556 (GRCm39)	V422A	probably damaging	Het
Garem2	G	A	5: 30,310,366 (GRCm39)	R26H	possibly damaging	Het
Gfy	T	C	7: 44,827,040 (GRCm39)	E352G	probably benign	Het
Gpatch11	T	C	17: 79,148,446 (GRCm39)	L128P	probably damaging	Het
Inava	C	T	1: 136,153,946 (GRCm39)	V180I	probably damaging	Het
Kcns3	T	C	12: 11,141,382 (GRCm39)	N439S	possibly damaging	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Mbd1	G	T	18: 74,407,487 (GRCm39)	R199L	probably damaging	Het
Mbd5	T	A	2: 49,146,339 (GRCm39)	M183K	probably benign	Het
Mecom	C	A	3: 30,020,887 (GRCm39)	V452L	possibly damaging	Het
Nckap1l	A	G	15: 103,395,246 (GRCm39)	T909A	probably damaging	Het
Ntrk2	A	G	13: 59,026,073 (GRCm39)	K464E	probably damaging	Het
Orc1	C	T	4: 108,450,649 (GRCm39)	T127I	probably damaging	Het
Pcdh17	T	C	14: 84,685,060 (GRCm39)	I509T	probably damaging	Het
Pcsk7	G	A	9: 45,830,646 (GRCm39)	A475T	probably damaging	Het
Prdm16	A	G	4: 154,561,124 (GRCm39)	V136A	probably benign	Het
Ptch1	C	T	13: 63,682,143 (GRCm39)	R537H	probably damaging	Het
Ptpn13	T	A	5: 103,717,592 (GRCm39)	S1879R	probably damaging	Het
Rasgrp3	A	T	17: 75,818,975 (GRCm39)	Q388L	probably benign	Het
Rnf31	AAC	A	14: 55,838,555 (GRCm39)		probably null	Het
Rnf38	A	T	4: 44,149,100 (GRCm39)	N82K	possibly damaging	Het
Smco3	T	A	6: 136,808,692 (GRCm39)	T61S	possibly damaging	Het
Ssx2ip	T	C	3: 146,138,245 (GRCm39)	V364A	probably benign	Het
Ttn	A	G	2: 76,595,109 (GRCm39)	I20347T	possibly damaging	Het
Vmn2r120	A	T	17: 57,829,466 (GRCm39)	F477Y	possibly damaging	Het
Wee1	A	G	7: 109,730,165 (GRCm39)	H423R	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCCTAGCTTCGAGTTCTTCCAG -3'
(R):5'- ATGTCTCCCTGAAGTTGTGG -3'

Sequencing Primer
(F):5'- GCCCTGCTGTAAAGTCAATG -3'
(R):5'- TCTCCCTGAAGTTGTGGTAATG -3'

Posted On

2015-07-07