Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01295:Ppfibp2'

73095

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppfibp2

Ensembl Gene

ENSMUSG00000036528

Gene Name

PTPRF interacting protein, binding protein 2 (liprin beta 2)

Synonyms

liprin beta 2, Cclp1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01295

Quality Score

Status

Chromosome

Chromosomal Location

107194414-107347790 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 107346746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146504 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040056] [ENSMUST00000052438] [ENSMUST00000098134] [ENSMUST00000208159] [ENSMUST00000208217]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000040056

SMART Domains

Protein: ENSMUSP00000042574
Gene: ENSMUSG00000036528

Domain	Start	End	E-Value	Type
Pfam:Integrase_DNA	192	256	3.4e-24	PFAM
low complexity region	357	374	N/A	INTRINSIC
SAM	561	628	1.86e-12	SMART
SAM	633	699	4.07e-9	SMART
SAM	721	793	9.22e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000052438

SMART Domains

Protein: ENSMUSP00000050061
Gene: ENSMUSG00000048065

Domain	Start	End	E-Value	Type
Pfam:FAD_binding_6	19	126	5e-37	PFAM
Pfam:NAD_binding_6	163	242	9.7e-8	PFAM
Pfam:NAD_binding_1	168	276	6.8e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098134

SMART Domains

Protein: ENSMUSP00000095738
Gene: ENSMUSG00000036528

Domain	Start	End	E-Value	Type
PDB:3QH9\|A	185	265	2e-26	PDB
low complexity region	357	374	N/A	INTRINSIC
SAM	550	617	1.86e-12	SMART
SAM	622	688	4.07e-9	SMART
SAM	710	782	9.22e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000208159

Predicted Effect

probably benign
Transcript: ENSMUST00000208217

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. The encoded protein is a beta liprin and plays a role in axon guidance and neuronal synapse development by recruiting LAR protein-tyrosine phosphatases to the plasma membrane. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	T	14: 32,383,893 (GRCm39)	L691I	possibly damaging	Het
Ano7	A	G	1: 93,308,200 (GRCm39)	D77G	probably benign	Het
Apol10b	A	T	15: 77,469,796 (GRCm39)	V127E	probably damaging	Het
Apol11b	G	A	15: 77,522,219 (GRCm39)	T26M	probably damaging	Het
Atn1	T	C	6: 124,726,239 (GRCm39)	E80G	probably damaging	Het
Carmil2	T	C	8: 106,422,148 (GRCm39)	M1139T	probably benign	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Celf5	G	T	10: 81,302,914 (GRCm39)		probably benign	Het
Chd6	G	A	2: 160,830,290 (GRCm39)		probably benign	Het
Col12a1	A	T	9: 79,551,208 (GRCm39)	V2136E	probably damaging	Het
Col4a1	G	T	8: 11,286,075 (GRCm39)		probably benign	Het
Dph1	A	G	11: 75,071,775 (GRCm39)		probably benign	Het
Dvl2	G	T	11: 69,900,410 (GRCm39)	V735F	possibly damaging	Het
Eif3b	A	G	5: 140,427,495 (GRCm39)	I709V	possibly damaging	Het
Elp5	C	T	11: 69,859,296 (GRCm39)		probably benign	Het
Exd1	A	T	2: 119,360,560 (GRCm39)		probably benign	Het
Fbxl4	C	A	4: 22,427,348 (GRCm39)	R530S	probably benign	Het
Fmo4	A	T	1: 162,626,693 (GRCm39)	D284E	probably damaging	Het
Fn3krp	A	G	11: 121,312,380 (GRCm39)	Y31C	probably damaging	Het
Galnt14	G	T	17: 73,811,914 (GRCm39)	Q436K	probably benign	Het
Gm5114	A	T	7: 39,057,241 (GRCm39)	W793R	probably damaging	Het
Gm9376	T	G	14: 118,505,059 (GRCm39)	S164A	possibly damaging	Het
Gtf2ird2	G	A	5: 134,221,603 (GRCm39)	D69N	probably damaging	Het
Hfm1	A	C	5: 107,065,472 (GRCm39)	M69R	possibly damaging	Het
Ighv9-1	A	C	12: 114,057,619 (GRCm39)	S94A	probably damaging	Het
Ikzf2	C	T	1: 69,617,146 (GRCm39)	R67H	probably benign	Het
Ipcef1	A	T	10: 6,850,642 (GRCm39)	F316L	probably damaging	Het
Kdsr	A	G	1: 106,683,187 (GRCm39)	V62A	possibly damaging	Het
Kif23	A	T	9: 61,839,411 (GRCm39)	C279S	possibly damaging	Het
Klf5	C	T	14: 99,539,157 (GRCm39)	T110I	probably benign	Het
Klhl25	T	A	7: 75,515,620 (GRCm39)	H175Q	probably benign	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Nfatc4	T	C	14: 56,069,962 (GRCm39)	V710A	probably benign	Het
Optn	G	A	2: 5,037,967 (GRCm39)	T409I	possibly damaging	Het
Or10j3b	A	T	1: 173,043,440 (GRCm39)	Y74F	probably damaging	Het
Or52a5	C	T	7: 103,427,448 (GRCm39)	V35I	probably benign	Het
Pabpc2	T	A	18: 39,907,082 (GRCm39)	Y116N	probably damaging	Het
Pafah1b1	G	T	11: 74,574,473 (GRCm39)	R238S	probably damaging	Het
Pdzd9	C	T	7: 120,267,618 (GRCm39)	G66R	probably damaging	Het
Pih1d1	T	C	7: 44,809,388 (GRCm39)	L285P	probably damaging	Het
Pirb	G	A	7: 3,720,405 (GRCm39)	P323S	probably damaging	Het
Pkd1l1	A	G	11: 8,883,685 (GRCm39)	F396L	possibly damaging	Het
Pla2g4d	G	A	2: 120,112,207 (GRCm39)	T108M	probably damaging	Het
Plin3	T	C	17: 56,586,814 (GRCm39)	Y411C	probably damaging	Het
Prrc2c	T	C	1: 162,510,061 (GRCm39)	S995G	probably damaging	Het
Ptf1a	T	C	2: 19,451,429 (GRCm39)	I253T	probably damaging	Het
Ptprb	A	G	10: 116,198,553 (GRCm39)	I1684V	probably benign	Het
Ptprk	G	A	10: 28,351,174 (GRCm39)	V556I	probably benign	Het
Rffl	A	T	11: 82,709,283 (GRCm39)	C47S	probably damaging	Het
Rnf17	C	T	14: 56,700,521 (GRCm39)	Q569*	probably null	Het
Shprh	A	G	10: 11,059,612 (GRCm39)	E1121G	probably damaging	Het
Slc1a5	A	G	7: 16,529,787 (GRCm39)	D402G	probably damaging	Het
Slc24a3	G	A	2: 145,458,634 (GRCm39)		probably null	Het
Slc2a13	T	A	15: 91,234,335 (GRCm39)		probably null	Het
Slc30a8	A	T	15: 52,169,955 (GRCm39)	N61Y	possibly damaging	Het
Slitrk6	A	T	14: 110,988,868 (GRCm39)	S280T	possibly damaging	Het
Smad2	G	A	18: 76,435,501 (GRCm39)	A365T	probably benign	Het
Tcp10b	C	T	17: 13,299,047 (GRCm39)	P367S	probably damaging	Het
Tdp1	A	G	12: 99,857,929 (GRCm39)	N163D	probably benign	Het
Thbs1	A	G	2: 117,948,808 (GRCm39)	D488G	possibly damaging	Het
Trappc12	C	T	12: 28,796,761 (GRCm39)	S257N	probably damaging	Het
Treml1	T	C	17: 48,672,627 (GRCm39)		probably benign	Het
Ugt2b36	A	G	5: 87,228,744 (GRCm39)	V234A	probably damaging	Het
Vmn2r86	T	G	10: 130,288,895 (GRCm39)	H202P	probably damaging	Het
Vmn2r87	C	A	10: 130,307,878 (GRCm39)	V787F	probably damaging	Het
Wbp2nl	T	A	15: 82,190,619 (GRCm39)	M129K	probably damaging	Het
Zdhhc15	T	C	X: 103,588,519 (GRCm39)		probably null	Het

Other mutations in Ppfibp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00426:Ppfibp2	APN	7	107,308,012 (GRCm39)	missense	probably damaging	1.00
IGL00429:Ppfibp2	APN	7	107,296,801 (GRCm39)	missense	probably benign	0.18
IGL00785:Ppfibp2	APN	7	107,337,094 (GRCm39)	missense	probably benign
IGL00821:Ppfibp2	APN	7	107,329,083 (GRCm39)	missense	probably damaging	1.00
IGL01361:Ppfibp2	APN	7	107,343,508 (GRCm39)	splice site	probably null
IGL02115:Ppfibp2	APN	7	107,338,525 (GRCm39)	unclassified	probably benign
IGL02323:Ppfibp2	APN	7	107,337,836 (GRCm39)	missense	probably damaging	1.00
IGL02458:Ppfibp2	APN	7	107,342,171 (GRCm39)	missense	probably damaging	1.00
IGL02731:Ppfibp2	APN	7	107,345,629 (GRCm39)	missense	possibly damaging	0.92
IGL03343:Ppfibp2	APN	7	107,337,126 (GRCm39)	nonsense	probably null
R0142:Ppfibp2	UTSW	7	107,343,384 (GRCm39)	missense	probably damaging	1.00
R0555:Ppfibp2	UTSW	7	107,328,381 (GRCm39)	missense	probably damaging	1.00
R0630:Ppfibp2	UTSW	7	107,337,806 (GRCm39)	critical splice acceptor site	probably null
R1374:Ppfibp2	UTSW	7	107,285,195 (GRCm39)	splice site	probably benign
R1668:Ppfibp2	UTSW	7	107,329,099 (GRCm39)	missense	probably damaging	1.00
R1731:Ppfibp2	UTSW	7	107,339,796 (GRCm39)	missense	probably damaging	1.00
R1830:Ppfibp2	UTSW	7	107,236,504 (GRCm39)	missense	probably damaging	1.00
R1902:Ppfibp2	UTSW	7	107,345,585 (GRCm39)	missense	probably damaging	1.00
R2061:Ppfibp2	UTSW	7	107,338,437 (GRCm39)	missense	probably damaging	1.00
R2929:Ppfibp2	UTSW	7	107,296,858 (GRCm39)	missense	probably damaging	0.99
R3777:Ppfibp2	UTSW	7	107,328,396 (GRCm39)	missense	probably benign	0.00
R3778:Ppfibp2	UTSW	7	107,328,396 (GRCm39)	missense	probably benign	0.00
R4839:Ppfibp2	UTSW	7	107,342,192 (GRCm39)	missense	probably damaging	1.00
R4879:Ppfibp2	UTSW	7	107,328,390 (GRCm39)	missense	probably benign	0.01
R5643:Ppfibp2	UTSW	7	107,337,097 (GRCm39)	missense	probably damaging	1.00
R5773:Ppfibp2	UTSW	7	107,285,079 (GRCm39)	missense	possibly damaging	0.74
R6255:Ppfibp2	UTSW	7	107,280,969 (GRCm39)	missense	probably damaging	0.96
R6356:Ppfibp2	UTSW	7	107,280,976 (GRCm39)	missense	probably benign	0.01
R6843:Ppfibp2	UTSW	7	107,326,938 (GRCm39)	missense	probably benign	0.00
R6889:Ppfibp2	UTSW	7	107,337,188 (GRCm39)	missense	possibly damaging	0.94
R7051:Ppfibp2	UTSW	7	107,316,925 (GRCm39)	missense	probably damaging	1.00
R7194:Ppfibp2	UTSW	7	107,322,187 (GRCm39)	critical splice donor site	probably null
R7654:Ppfibp2	UTSW	7	107,337,818 (GRCm39)	missense	probably damaging	0.99
R7678:Ppfibp2	UTSW	7	107,315,873 (GRCm39)	missense	probably damaging	0.98
R7895:Ppfibp2	UTSW	7	107,320,524 (GRCm39)	splice site	probably null
R8385:Ppfibp2	UTSW	7	107,296,894 (GRCm39)	missense	probably benign	0.44
R8434:Ppfibp2	UTSW	7	107,327,957 (GRCm39)	critical splice donor site	probably null
R8691:Ppfibp2	UTSW	7	107,346,785 (GRCm39)	missense	probably damaging	0.99
R8695:Ppfibp2	UTSW	7	107,285,063 (GRCm39)	splice site	probably benign
R8700:Ppfibp2	UTSW	7	107,345,602 (GRCm39)	missense	possibly damaging	0.94
R8755:Ppfibp2	UTSW	7	107,343,432 (GRCm39)	missense	probably damaging	1.00
R9172:Ppfibp2	UTSW	7	107,337,525 (GRCm39)	nonsense	probably null
R9182:Ppfibp2	UTSW	7	107,308,053 (GRCm39)	missense	possibly damaging	0.72
R9355:Ppfibp2	UTSW	7	107,322,169 (GRCm39)	missense	probably benign	0.00
R9545:Ppfibp2	UTSW	7	107,337,504 (GRCm39)	missense	probably damaging	1.00
R9688:Ppfibp2	UTSW	7	107,318,448 (GRCm39)	missense	probably benign	0.02
RF022:Ppfibp2	UTSW	7	107,296,817 (GRCm39)	missense	probably damaging	1.00
Z1177:Ppfibp2	UTSW	7	107,342,257 (GRCm39)	missense	possibly damaging	0.85

Posted On

2013-10-07