Mutagenetix > Incidental Mutation

Incidental Mutation 'R4734:Prb1c'

359149

Institutional Source

Beutler Lab

Gene Symbol

Prb1c

Ensembl Gene

ENSMUSG00000030143

Gene Name

proline-rich protein BstNI subfamily 1C

Synonyms

Gm8882

MMRRC Submission

041961-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R4734 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

132361041-132364134 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 132361928 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 109 (N109I)

Ref Sequence

ENSEMBL: ENSMUSP00000079660 (fasta)

Gene Model

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

AlphaFold

E9Q7E4

Predicted Effect

unknown
Transcript: ENSMUST00000080849
AA Change: N109I

SMART Domains

Protein: ENSMUSP00000079660
Gene: ENSMUSG00000030143
AA Change: N109I

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,470,904 (GRCm38)	M1V	probably null	Het
Abcb11	T	A	2: 69,323,962 (GRCm38)	T87S	possibly damaging	Het
Arap3	A	G	18: 37,996,275 (GRCm38)	V210A	probably benign	Het
Avl9	T	C	6: 56,736,494 (GRCm38)	S246P	probably damaging	Het
Ccdc88a	A	G	11: 29,482,720 (GRCm38)	K222R	probably benign	Het
Cdhr18	T	C	14: 13,845,292 (GRCm38)	N540S	probably benign	Het
Cfap96	A	T	8: 45,970,417 (GRCm38)	M86K	possibly damaging	Het
Chsy3	C	A	18: 59,179,413 (GRCm38)	F319L	probably benign	Het
Coro2b	T	C	9: 62,426,578 (GRCm38)	T345A	probably benign	Het
Cpb1	A	G	3: 20,263,712 (GRCm38)	V216A	probably benign	Het
Cyp2c65	A	G	19: 39,072,334 (GRCm38)	I213V	probably benign	Het
Dcaf15	A	G	8: 84,097,728 (GRCm38)	C586R	probably benign	Het
Ddr2	T	A	1: 169,998,088 (GRCm38)	E314D	probably benign	Het
Dennd5a	C	T	7: 109,896,336 (GRCm38)	R1196H	probably damaging	Het
Dnah9	G	A	11: 65,834,115 (GRCm38)	A4404V	probably damaging	Het
Dpf2	A	G	19: 5,906,999 (GRCm38)		probably null	Het
Eif2ak4	A	T	2: 118,422,087 (GRCm38)	H302L	probably damaging	Het
Eif2d	G	T	1: 131,165,152 (GRCm38)	R399L	probably damaging	Het
Fat2	A	G	11: 55,311,468 (GRCm38)	V260A	probably benign	Het
Fhod3	T	A	18: 25,028,135 (GRCm38)	Y575N	probably benign	Het
Fscb	T	C	12: 64,474,470 (GRCm38)	E74G	possibly damaging	Het
Gdpd2	G	A	X: 100,734,193 (GRCm38)	M243I	possibly damaging	Het
Glra1	C	A	11: 55,536,384 (GRCm38)	D42Y	probably damaging	Het
Gnl2	T	C	4: 125,041,018 (GRCm38)	F156L	probably benign	Het
Gpr37	C	A	6: 25,689,086 (GRCm38)	R4L	possibly damaging	Het
Hectd4	A	T	5: 121,341,977 (GRCm38)	H2892L	possibly damaging	Het
Helb	T	C	10: 120,084,849 (GRCm38)	D1063G	probably benign	Het
Htr2c	A	G	X: 147,193,797 (GRCm38)	T163A	probably benign	Het
Impact	T	A	18: 12,985,289 (GRCm38)	H188Q	probably damaging	Het
Kirrel1	C	T	3: 87,089,151 (GRCm38)	M380I	probably null	Het
Lnx2	C	T	5: 147,029,137 (GRCm38)	G391R	probably damaging	Het
Lrrc19	T	C	4: 94,638,349 (GRCm38)	I324V	probably benign	Het
Lrrcc1	G	T	3: 14,562,285 (GRCm38)	Q458H	probably damaging	Het
Maml3	A	T	3: 51,689,875 (GRCm38)	D483E	probably damaging	Het
Mef2c	T	A	13: 83,662,629 (GRCm38)	*467R	probably null	Het
Mms19	T	A	19: 41,944,558 (GRCm38)	S1031C	probably damaging	Het
Myt1l	T	C	12: 29,919,926 (GRCm38)	I143T	possibly damaging	Het
Nuggc	T	C	14: 65,623,230 (GRCm38)	Y426H	probably damaging	Het
Oit3	A	T	10: 59,424,082 (GRCm38)	C500S	probably damaging	Het
Oog2	T	C	4: 144,196,451 (GRCm38)	S429P	probably benign	Het
Or4d1	T	A	11: 87,914,190 (GRCm38)	T239S	probably damaging	Het
Or51f1	A	G	7: 102,856,979 (GRCm38)	I101T	probably damaging	Het
Or5p1	A	T	7: 108,317,752 (GRCm38)	N286I	probably damaging	Het
Or5p51	T	C	7: 107,845,428 (GRCm38)	I102V	probably benign	Het
Pcnt	T	C	10: 76,437,206 (GRCm38)	D93G	probably benign	Het
Pdia5	A	T	16: 35,456,513 (GRCm38)	M95K	probably benign	Het
Pdzrn4	A	T	15: 92,770,252 (GRCm38)	R762*	probably null	Het
Piezo1	G	T	8: 122,498,206 (GRCm38)	Q654K	probably damaging	Het
Ppil3	A	G	1: 58,431,269 (GRCm38)	Y141H	probably benign	Het
Rassf8	G	T	6: 145,815,540 (GRCm38)	K197N	probably benign	Het
Ryr2	T	C	13: 11,737,753 (GRCm38)	Q1894R	probably damaging	Het
Ryr3	T	A	2: 112,910,502 (GRCm38)	N487Y	probably damaging	Het
Scn5a	T	C	9: 119,539,538 (GRCm38)	Y307C	probably damaging	Het
Sdad1	C	T	5: 92,304,977 (GRCm38)	R134Q	possibly damaging	Het
Shroom1	C	T	11: 53,465,233 (GRCm38)	S370F	probably damaging	Het
Slc29a3	A	G	10: 60,716,326 (GRCm38)	V313A	probably benign	Het
Slc2a9	C	A	5: 38,382,099 (GRCm38)	G353C	probably damaging	Het
Snx33	T	A	9: 56,925,901 (GRCm38)	T295S	possibly damaging	Het
Spata31d1b	G	A	13: 59,718,358 (GRCm38)	V1107M	probably damaging	Het
Supt6	T	C	11: 78,224,683 (GRCm38)	D761G	probably benign	Het
Tfeb	T	C	17: 47,785,862 (GRCm38)	V18A	probably benign	Het
Thap12	G	T	7: 98,715,954 (GRCm38)	C443F	probably damaging	Het
Thap12	T	A	7: 98,715,955 (GRCm38)	C443*	probably null	Het
Tmem67	T	C	4: 12,063,158 (GRCm38)	D496G	probably benign	Het
Trappc8	G	A	18: 20,841,572 (GRCm38)	R900*	probably null	Het
Trim9	T	C	12: 70,248,273 (GRCm38)	N688D	probably damaging	Het
Trmt1l	A	T	1: 151,442,637 (GRCm38)	I80L	probably benign	Het
Trpm5	C	A	7: 143,082,785 (GRCm38)	V472L	probably benign	Het
Tspear	C	T	10: 77,864,695 (GRCm38)	L120F	probably damaging	Het
Ttc9b	G	A	7: 27,656,018 (GRCm38)	V238M	probably benign	Het
Usp20	A	G	2: 31,019,824 (GRCm38)	I819V	probably benign	Het
Vmn2r102	T	A	17: 19,677,533 (GRCm38)	V270E	probably damaging	Het
Vmn2r63	C	T	7: 42,928,120 (GRCm38)	M331I	probably benign	Het
Zc3h18	A	T	8: 122,383,643 (GRCm38)	D77V	probably damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 105,483,744 (GRCm38)		probably null	Het

Other mutations in Prb1c

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02797:Prb1c	APN	6	132,363,045 (GRCm38)	critical splice acceptor site	probably null
IGL02961:Prb1c	APN	6	132,361,408 (GRCm38)	missense	unknown
R0334:Prb1c	UTSW	6	132,364,058 (GRCm38)	missense	unknown
R1167:Prb1c	UTSW	6	132,361,590 (GRCm38)	missense	unknown
R1635:Prb1c	UTSW	6	132,363,006 (GRCm38)	critical splice donor site	probably null
R3956:Prb1c	UTSW	6	132,361,851 (GRCm38)	missense	unknown
R5275:Prb1c	UTSW	6	132,361,877 (GRCm38)	missense	unknown
R5295:Prb1c	UTSW	6	132,361,877 (GRCm38)	missense	unknown
R5506:Prb1c	UTSW	6	132,361,856 (GRCm38)	missense	unknown
R5580:Prb1c	UTSW	6	132,361,469 (GRCm38)	missense	unknown
R5975:Prb1c	UTSW	6	132,362,073 (GRCm38)	missense	unknown
R6503:Prb1c	UTSW	6	132,361,692 (GRCm38)	nonsense	probably null
R8110:Prb1c	UTSW	6	132,361,568 (GRCm38)	missense	unknown
R8714:Prb1c	UTSW	6	132,364,088 (GRCm38)	missense	unknown
R8931:Prb1c	UTSW	6	132,361,934 (GRCm38)	missense
R9054:Prb1c	UTSW	6	132,361,893 (GRCm38)	missense	unknown
R9526:Prb1c	UTSW	6	132,361,928 (GRCm38)	missense	unknown

Predicted Primers

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

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

Posted On

2015-11-11