Mutagenetix > Incidental Mutation

Incidental Mutation 'R5925:Prb1a'

461787

Institutional Source

Beutler Lab

Gene Symbol

Prb1a

Ensembl Gene

ENSMUSG00000067543

Gene Name

proline-rich protein BstNI subfamily 1A

Synonyms

Prb1, proline-rich proteoglycan 2

MMRRC Submission

044120-MU

Accession Numbers

Essential gene?

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

Stock #

R5925 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

132183758-132187484 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132187475 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 2 (L2P)

Ref Sequence

ENSEMBL: ENSMUSP00000085159 (fasta)

Gene Model

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

AlphaFold

Q91X93

Predicted Effect

unknown
Transcript: ENSMUST00000087853
AA Change: L2P

SMART Domains

Protein: ENSMUSP00000085159
Gene: ENSMUSG00000067543
AA Change: L2P

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: 99.8%
3x: 99.4%
10x: 97.4%
20x: 91.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	C	T	5: 66,147,735 (GRCm39)	W16*	probably null	Het
Abca8a	T	C	11: 109,948,049 (GRCm39)	D985G	probably damaging	Het
Afp	T	A	5: 90,645,147 (GRCm39)	C188S	probably damaging	Het
Ank2	A	C	3: 126,726,612 (GRCm39)	L894R	probably benign	Het
Antxr1	A	G	6: 87,289,344 (GRCm39)	I60T	probably damaging	Het
Bltp2	T	C	11: 78,175,064 (GRCm39)	V1733A	probably benign	Het
Ccdc187	A	G	2: 26,183,593 (GRCm39)	S136P	probably benign	Het
Cep95	T	C	11: 106,703,227 (GRCm39)	S393P	probably benign	Het
Cyfip2	T	C	11: 46,098,263 (GRCm39)	Y1053C	probably damaging	Het
Diaph1	A	G	18: 38,024,988 (GRCm39)	V491A	unknown	Het
Dync2i1	A	T	12: 116,197,014 (GRCm39)	F448I	possibly damaging	Het
Ehf	T	C	2: 103,097,338 (GRCm39)		probably null	Het
Eif2b5	C	T	16: 20,326,874 (GRCm39)	H99Y	probably benign	Het
Exosc10	C	A	4: 148,657,819 (GRCm39)	T655K	probably benign	Het
Flg	A	T	3: 93,186,706 (GRCm39)	I53F	probably damaging	Het
Hc	T	A	2: 34,920,462 (GRCm39)	D628V	possibly damaging	Het
Lmo4	A	T	3: 143,900,252 (GRCm39)	N83K	probably benign	Het
Lrp4	A	T	2: 91,342,029 (GRCm39)	T1881S	probably benign	Het
Malt1	T	A	18: 65,564,439 (GRCm39)	L66Q	possibly damaging	Het
Map3k3	T	C	11: 106,040,376 (GRCm39)	S314P	probably benign	Het
Mpzl3	G	T	9: 44,973,412 (GRCm39)	K50N	probably damaging	Het
Nbeal2	G	T	9: 110,458,948 (GRCm39)	Q1992K	probably benign	Het
Nlrp14	T	A	7: 106,785,860 (GRCm39)	N645K	probably benign	Het
Or2g1	T	C	17: 38,106,482 (GRCm39)	I49T	probably benign	Het
Or6c76b	A	G	10: 129,692,744 (GRCm39)	D119G	probably damaging	Het
Pcdha1	T	A	18: 37,063,724 (GRCm39)	D129E	probably damaging	Het
Rhbdf1	A	G	11: 32,162,906 (GRCm39)	Y454H	probably benign	Het
Satb2	C	T	1: 56,836,097 (GRCm39)	A565T	possibly damaging	Het
Sh3pxd2a	A	T	19: 47,256,051 (GRCm39)	L889Q	probably damaging	Het
Sis	T	C	3: 72,828,713 (GRCm39)		probably null	Het
Slc35e2	T	C	4: 155,696,084 (GRCm39)	V157A	probably damaging	Het
Slc35f3	T	C	8: 127,115,946 (GRCm39)	V291A	probably benign	Het
Snph	T	C	2: 151,436,151 (GRCm39)	D190G	probably damaging	Het
Tpd52l1	T	C	10: 31,208,943 (GRCm39)	H170R	probably benign	Het
Trav18	A	G	14: 54,069,152 (GRCm39)	T65A	probably benign	Het
Trip12	G	A	1: 84,726,974 (GRCm39)	Q9*	probably null	Het
Ttn	C	T	2: 76,632,592 (GRCm39)	C12408Y	probably damaging	Het
Ttn	T	C	2: 76,639,355 (GRCm39)	D13806G	probably damaging	Het
Unc79	G	C	12: 103,091,989 (GRCm39)		probably null	Het
Vmn2r81	T	C	10: 79,083,637 (GRCm39)	S4P	probably damaging	Het
Zfp37	G	A	4: 62,109,450 (GRCm39)	T576I	possibly damaging	Het
Zfp39	A	T	11: 58,782,099 (GRCm39)	L221Q	possibly damaging	Het
Zgrf1	A	G	3: 127,366,853 (GRCm39)	H744R	possibly 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
R4505:Prb1a	UTSW	6	132,184,533 (GRCm39)	nonsense	probably null
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'- CTGTCCTCTACACACAAGGC -3'
(R):5'- ATCCTGCTAGGCTAAAGTCCC -3'

Sequencing Primer
(F):5'- CTGTAAACTACAACATACTCTCTTGC -3'
(R):5'- CTGCTAGGCTAAAGTCCCAAAGAAG -3'

Posted On

2017-02-28