Mutagenetix > Incidental Mutation

Incidental Mutation 'R1559:Prb1a'

170490

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

039598-MU

Accession Numbers

Essential gene?

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

Stock #

R1559 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132183758-132187484 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 132185507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 42 (Y42F)

Ref Sequence

ENSEMBL: ENSMUSP00000085159 (fasta)

Gene Model

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

AlphaFold

Q91X93

Predicted Effect

unknown
Transcript: ENSMUST00000087853
AA Change: Y42F

SMART Domains

Protein: ENSMUSP00000085159
Gene: ENSMUSG00000067543
AA Change: Y42F

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.0%
20x: 84.8%

Validation Efficiency

95% (73/77)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,349,180 (GRCm39)	W3585R	probably null	Het
Ajm1	G	T	2: 25,467,043 (GRCm39)	S956*	probably null	Het
Babam1	G	C	8: 71,850,424 (GRCm39)	E18Q	probably damaging	Het
Bcan	G	T	3: 87,901,519 (GRCm39)	S394R	probably damaging	Het
Birc6	T	A	17: 74,999,232 (GRCm39)	F4653L	probably damaging	Het
Camsap2	A	T	1: 136,209,832 (GRCm39)	H559Q	probably benign	Het
Cars2	G	T	8: 11,580,430 (GRCm39)		probably null	Het
Ccdc93	T	A	1: 121,389,712 (GRCm39)		probably benign	Het
Ccna2	C	A	3: 36,624,879 (GRCm39)		probably benign	Het
Cdc6	T	A	11: 98,803,037 (GRCm39)	L326I	probably damaging	Het
Cdh23	A	T	10: 60,255,478 (GRCm39)		probably benign	Het
Cenpe	T	A	3: 134,976,661 (GRCm39)	S2423T	probably benign	Het
Cftr	A	G	6: 18,225,936 (GRCm39)	M295V	probably benign	Het
Cxcl2	A	G	5: 91,051,871 (GRCm39)	H23R	probably benign	Het
Cyp4a12b	A	G	4: 115,291,181 (GRCm39)	T370A	probably damaging	Het
Daam2	A	G	17: 49,803,148 (GRCm39)		probably benign	Het
Dclk3	T	C	9: 111,298,276 (GRCm39)	F607L	probably damaging	Het
Des	T	G	1: 75,337,230 (GRCm39)	S57A	probably benign	Het
Drd1	A	T	13: 54,206,964 (GRCm39)	S410T	probably damaging	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Fanci	T	C	7: 79,082,941 (GRCm39)	L639P	probably damaging	Het
Fancm	A	G	12: 65,140,463 (GRCm39)	E395G	probably benign	Het
Grik3	A	G	4: 125,601,790 (GRCm39)	D889G	probably benign	Het
Heyl	A	G	4: 123,135,192 (GRCm39)	S62G	probably damaging	Het
Hmox1	C	T	8: 75,826,577 (GRCm39)	P267L	probably damaging	Het
Ifi213	A	C	1: 173,394,784 (GRCm39)	S584A	probably benign	Het
Il12rb2	G	T	6: 67,333,576 (GRCm39)	F234L	probably benign	Het
Il4i1	T	A	7: 44,488,811 (GRCm39)	S233T	probably damaging	Het
Itga4	A	G	2: 79,146,032 (GRCm39)	S745G	probably benign	Het
Kalrn	T	A	16: 33,830,918 (GRCm39)	I734F	possibly damaging	Het
Klk1b16	T	C	7: 43,790,425 (GRCm39)	I200T	probably benign	Het
Lrrc4c	T	A	2: 97,461,117 (GRCm39)	M581K	probably benign	Het
M6pr	A	T	6: 122,292,033 (GRCm39)	I122L	probably benign	Het
Magi3	T	C	3: 103,954,169 (GRCm39)		probably benign	Het
Mybpc2	T	G	7: 44,163,111 (GRCm39)	T480P	probably benign	Het
Or14c44	T	C	7: 86,061,575 (GRCm39)	S43P	probably benign	Het
Or1j17	A	G	2: 36,578,770 (GRCm39)	Y252C	probably damaging	Het
Or51ab3	A	T	7: 103,201,372 (GRCm39)	I127F	possibly damaging	Het
Or8g23	T	C	9: 38,971,437 (GRCm39)	N175S	probably benign	Het
Pcx	T	A	19: 4,669,114 (GRCm39)	I704N	probably damaging	Het
Pde3a	G	T	6: 141,404,824 (GRCm39)	A350S	probably damaging	Het
Ppox	A	T	1: 171,107,580 (GRCm39)		probably benign	Het
Rsph4a	T	A	10: 33,785,727 (GRCm39)	V546E	probably damaging	Het
Saxo4	T	C	19: 10,458,770 (GRCm39)	T87A	probably benign	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Sh3tc1	A	G	5: 35,860,693 (GRCm39)		probably null	Het
Slc22a2	T	C	17: 12,803,298 (GRCm39)	F44S	probably damaging	Het
Slco6c1	T	A	1: 97,026,223 (GRCm39)	D334V	probably damaging	Het
Smim19	T	C	8: 22,953,352 (GRCm39)	D105G	probably damaging	Het
Smpdl3a	A	G	10: 57,683,588 (GRCm39)	T233A	probably damaging	Het
St8sia5	G	A	18: 77,299,460 (GRCm39)		probably null	Het
Stk32a	C	A	18: 43,376,149 (GRCm39)	Q73K	probably benign	Het
Tmem129	G	T	5: 33,815,100 (GRCm39)		probably null	Het
Traf3ip3	A	T	1: 192,860,599 (GRCm39)	L441Q	probably damaging	Het
Ttn	C	T	2: 76,731,305 (GRCm39)		probably benign	Het
Unc45b	T	C	11: 82,808,672 (GRCm39)	S253P	possibly damaging	Het
Vars2	A	G	17: 35,977,150 (GRCm39)		probably benign	Het
Vmn2r51	C	T	7: 9,836,372 (GRCm39)	M136I	possibly damaging	Het
Vmn2r51	A	G	7: 9,836,373 (GRCm39)	M136T	possibly damaging	Het
Zfp595	T	C	13: 67,465,127 (GRCm39)	I379V	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
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

Predicted Primers

PCR Primer
(F):5'- GGGTCTCTGAGGACCTCCATGTAG -3'
(R):5'- CGAATGACCGTTTCTCCACTTCTGA -3'

Sequencing Primer
(F):5'- TGAGAACCTCCCTGTGGTG -3'
(R):5'- AGGAAATCCTTTTTGCACAGC -3'

Posted On

2014-04-13