Mutagenetix > Incidental Mutation

Incidental Mutation 'R5295:Prb1c'

405355

Institutional Source

Beutler Lab

Gene Symbol

Prb1c

Ensembl Gene

ENSMUSG00000030143

Gene Name

proline-rich protein BstNI subfamily 1C

Synonyms

Gm8882

MMRRC Submission

042878-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R5295 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

132338068-132341097 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 132338840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 126 (Q126P)

Ref Sequence

ENSEMBL: ENSMUSP00000079660 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080849]

AlphaFold

E9Q7E4

Predicted Effect

unknown
Transcript: ENSMUST00000080849
AA Change: Q126P

SMART Domains

Protein: ENSMUSP00000079660
Gene: ENSMUSG00000030143
AA Change: Q126P

Domain	Start	End	E-Value	Type
Pfam:Pro-rich	1	118	2.2e-32	PFAM
Pfam:Pro-rich	155	228	6.3e-14	PFAM
Pfam:Pro-rich	211	277	5.8e-10	PFAM

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	C	T	18: 65,438,109 (GRCm39)	E1095K	probably damaging	Het
Alpl	T	C	4: 137,476,919 (GRCm39)	T245A	probably benign	Het
Ank2	T	C	3: 126,825,832 (GRCm39)	H378R	probably damaging	Het
Arhgef1	G	A	7: 24,618,777 (GRCm39)		probably null	Het
Atp5f1c	T	C	2: 10,073,544 (GRCm39)	R10G	possibly damaging	Het
Cbln3	T	C	14: 56,120,920 (GRCm39)		probably null	Het
Ccr10	C	T	11: 101,065,111 (GRCm39)	V140M	possibly damaging	Het
Cep135	T	A	5: 76,741,051 (GRCm39)	H42Q	possibly damaging	Het
Commd5	C	A	15: 76,785,152 (GRCm39)	T183K	possibly damaging	Het
Dnajc16	T	C	4: 141,495,239 (GRCm39)	E493G	possibly damaging	Het
Ears2	T	C	7: 121,647,421 (GRCm39)	R288G	probably damaging	Het
Elovl4	G	A	9: 83,662,714 (GRCm39)	P273L	possibly damaging	Het
Fam186b	T	A	15: 99,181,755 (GRCm39)	I148F	probably damaging	Het
Fryl	T	C	5: 73,270,134 (GRCm39)	Y79C	probably damaging	Het
Gad1-ps	A	G	10: 99,280,751 (GRCm39)		noncoding transcript	Het
Gm14325	G	A	2: 177,474,777 (GRCm39)	H102Y	possibly damaging	Het
Ighv1-77	T	A	12: 115,825,528 (GRCm39)	S104C	probably damaging	Het
Kcnv1	T	C	15: 44,977,987 (GRCm39)	D17G	unknown	Het
Lmtk3	G	A	7: 45,440,722 (GRCm39)	D243N	probably damaging	Het
Lrrc7	T	A	3: 157,876,376 (GRCm39)	K571N	probably damaging	Het
Lsm7	T	C	10: 80,690,454 (GRCm39)	E32G	probably damaging	Het
Ly6f	A	G	15: 75,143,488 (GRCm39)	Q65R	probably benign	Het
Perm1	T	C	4: 156,301,975 (GRCm39)	L173P	probably benign	Het
Plvap	T	C	8: 71,964,314 (GRCm39)	Q16R	probably benign	Het
Prl7d1	A	T	13: 27,893,230 (GRCm39)	V227D	probably damaging	Het
Prss54	T	C	8: 96,291,106 (GRCm39)	T165A	probably damaging	Het
Psrc1	A	G	3: 108,293,675 (GRCm39)	I195V	probably benign	Het
Rnf123	AT	ATT	9: 107,941,202 (GRCm39)		probably null	Het
Rnf213	A	T	11: 119,331,642 (GRCm39)	T2284S	probably benign	Het
Serpina3c	T	C	12: 104,114,637 (GRCm39)	E333G	probably damaging	Het
Serpinb6c	A	G	13: 34,077,800 (GRCm39)	F190S	probably damaging	Het
Sfmbt1	G	A	14: 30,495,986 (GRCm39)	D90N	probably damaging	Het
Tdh	T	C	14: 63,733,558 (GRCm39)	Y110C	probably damaging	Het
Tdrd9	T	A	12: 112,018,346 (GRCm39)	L1255*	probably null	Het
Trim41	TTCCTCCTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCCTCCTCC	11: 48,707,084 (GRCm39)		probably benign	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Zbtb2	T	C	10: 4,318,508 (GRCm39)	K506R	probably damaging	Het
Zmiz1	T	C	14: 25,656,771 (GRCm39)	L800P	probably damaging	Het
Znhit6	A	G	3: 145,306,248 (GRCm39)	D251G	probably benign	Het

Other mutations in Prb1c

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02797:Prb1c	APN	6	132,340,008 (GRCm39)	critical splice acceptor site	probably null
IGL02961:Prb1c	APN	6	132,338,371 (GRCm39)	missense	unknown
R0334:Prb1c	UTSW	6	132,341,021 (GRCm39)	missense	unknown
R1167:Prb1c	UTSW	6	132,338,553 (GRCm39)	missense	unknown
R1635:Prb1c	UTSW	6	132,339,969 (GRCm39)	critical splice donor site	probably null
R3956:Prb1c	UTSW	6	132,338,814 (GRCm39)	missense	unknown
R4734:Prb1c	UTSW	6	132,338,891 (GRCm39)	missense	unknown
R5275:Prb1c	UTSW	6	132,338,840 (GRCm39)	missense	unknown
R5506:Prb1c	UTSW	6	132,338,819 (GRCm39)	missense	unknown
R5580:Prb1c	UTSW	6	132,338,432 (GRCm39)	missense	unknown
R5975:Prb1c	UTSW	6	132,339,036 (GRCm39)	missense	unknown
R6503:Prb1c	UTSW	6	132,338,655 (GRCm39)	nonsense	probably null
R8110:Prb1c	UTSW	6	132,338,531 (GRCm39)	missense	unknown
R8714:Prb1c	UTSW	6	132,341,051 (GRCm39)	missense	unknown
R8931:Prb1c	UTSW	6	132,338,897 (GRCm39)	missense
R9054:Prb1c	UTSW	6	132,338,856 (GRCm39)	missense	unknown
R9526:Prb1c	UTSW	6	132,338,891 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTGGTTTCCAGGCCTAGGAG -3'
(R):5'- TTTCCAAAACCACCTCCTGGAG -3'

Sequencing Primer
(F):5'- TTTCCAGGCCTAGGAGGTC -3'
(R):5'- GACCTCCCAGTTCTGATGAAAATG -3'

Posted On

2016-07-22