Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00670:Prb1a'

27567

Institutional Source

Australian Phenomics Network (link to record)

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: 0.050) question?

Stock #

IGL00670

Quality Score

Status

Chromosome

Chromosomal Location

132183758-132187484 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to T at 132184109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000085159 (fasta)

Gene Model

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

AlphaFold

Q91X93

Predicted Effect

probably benign
Transcript: ENSMUST00000087853

SMART Domains

Protein: ENSMUSP00000085159
Gene: ENSMUSG00000067543

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	T	6: 142,633,007 (GRCm39)	L245Q	probably damaging	Het
Abcd3	A	T	3: 121,569,333 (GRCm39)	V333D	probably damaging	Het
Aff2	T	A	X: 68,588,199 (GRCm39)	M122K	possibly damaging	Het
Car10	C	T	11: 93,195,483 (GRCm39)		probably benign	Het
Cyp2d26	T	A	15: 82,675,942 (GRCm39)	M257L	probably benign	Het
Cyp2j5	T	G	4: 96,522,512 (GRCm39)	D354A	probably benign	Het
Fam228b	T	C	12: 4,814,081 (GRCm39)	K59E	probably damaging	Het
Fndc3c1	T	C	X: 105,489,383 (GRCm39)	D346G	probably benign	Het
Med14	G	A	X: 12,620,428 (GRCm39)	A95V	probably damaging	Het
Med23	T	C	10: 24,764,482 (GRCm39)	L155P	probably damaging	Het
Mrps31	A	G	8: 22,919,206 (GRCm39)	D312G	probably damaging	Het
Ppp1r3a	A	T	6: 14,719,059 (GRCm39)	N618K	probably benign	Het
Slc5a4a	A	T	10: 75,999,567 (GRCm39)	I210F	probably damaging	Het
Tasor2	A	T	13: 3,635,241 (GRCm39)	I522N	probably benign	Het
Ttn	A	T	2: 76,657,335 (GRCm39)		probably benign	Het

Other mutations in Prb1a

Allele	Source	Chr	Coord	Type	Predicted Effect
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
R4505:Prb1a	UTSW	6	132,184,533 (GRCm39)	nonsense	probably null
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

Posted On

2013-04-17