Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02458:Ppfibp2'

294513

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

Cclp1, liprin beta 2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02458

Quality Score

Status

Chromosome

Chromosomal Location

107595207-107748583 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107742964 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 775 (Q775L)

Ref Sequence

ENSEMBL: ENSMUSP00000042574 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000040056
AA Change: Q775L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000042574
Gene: ENSMUSG00000036528
AA Change: Q775L

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 damaging
Transcript: ENSMUST00000098134
AA Change: Q764L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095738
Gene: ENSMUSG00000036528
AA Change: Q764L

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

possibly damaging
Transcript: ENSMUST00000208159
AA Change: Q20L

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	T	8: 40,753,807	I37L	probably benign	Het
Alpk1	A	G	3: 127,681,319		probably null	Het
Ankrd33	T	C	15: 101,116,607	F8L	probably damaging	Het
Avil	A	G	10: 127,016,353	K669R	probably benign	Het
Bcor	G	T	X: 12,048,510	L1165I	probably damaging	Het
C7	A	G	15: 5,059,389		probably benign	Het
Cc2d2a	A	G	5: 43,718,554	I958V	probably benign	Het
Cenpe	A	T	3: 135,230,108	K435*	probably null	Het
Chrna7	G	A	7: 63,106,094	L235F	probably damaging	Het
Col6a3	C	A	1: 90,779,197	V2065L	unknown	Het
Copb1	A	T	7: 114,246,785	N183K	probably benign	Het
Cpn2	G	A	16: 30,260,835	A16V	probably benign	Het
Cul1	A	G	6: 47,525,608	K769E	possibly damaging	Het
Ddx58	A	G	4: 40,229,536	S83P	probably damaging	Het
Deup1	C	T	9: 15,592,360	V302M	probably benign	Het
Dnah17	T	C	11: 118,036,350	K3871E	probably damaging	Het
Dnah6	A	G	6: 73,027,448	V3844A	probably benign	Het
Dnah7a	A	T	1: 53,618,328	L763*	probably null	Het
Donson	A	T	16: 91,681,176	W461R	probably damaging	Het
Dpp10	T	C	1: 123,341,689	I664V	probably benign	Het
Dusp8	T	A	7: 142,082,747	T369S	probably benign	Het
Dync2h1	A	T	9: 7,117,422	L56Q	probably damaging	Het
Ecd	A	T	14: 20,324,477	S532T	probably benign	Het
Frg2f1	G	A	4: 119,530,957	T115I	probably damaging	Het
Gpatch2l	A	G	12: 86,288,961		probably benign	Het
Gtf3c2	T	A	5: 31,159,523		probably null	Het
Haghl	T	C	17: 25,783,496		probably benign	Het
Hoxc8	A	T	15: 102,992,749	N208I	probably damaging	Het
Igf2	T	C	7: 142,654,048	D115G	probably benign	Het
Jag2	T	A	12: 112,915,993	D385V	probably damaging	Het
Laptm4b	A	G	15: 34,258,742	H54R	probably benign	Het
Lrp2	A	G	2: 69,521,773	S640P	probably damaging	Het
Map3k8	A	C	18: 4,334,660	V328G	probably damaging	Het
Mfsd13a	A	G	19: 46,372,247	E388G	probably damaging	Het
Ms4a13	G	A	19: 11,171,928	T168I	probably benign	Het
Mtg1	C	A	7: 140,150,172	Q294K	probably benign	Het
Myh3	C	T	11: 67,096,940	A1413V	possibly damaging	Het
Neo1	A	T	9: 58,893,867		probably benign	Het
Ogfod3	T	C	11: 121,200,923	E119G	probably benign	Het
Olfr1250	A	G	2: 89,657,348	L31P	probably damaging	Het
Olfr1331	A	G	4: 118,869,300	N173S	possibly damaging	Het
Olfr331	A	T	11: 58,502,247	M109K	probably benign	Het
Olfr800	A	T	10: 129,660,606	I267F	probably benign	Het
Olfr988	G	A	2: 85,353,662	T88I	probably benign	Het
Parvb	G	T	15: 84,303,434	D248Y	probably damaging	Het
Pcdh11x	A	T	X: 120,400,618	H586L	possibly damaging	Het
Phactr2	T	C	10: 13,261,828	E120G	probably damaging	Het
Rcbtb1	A	G	14: 59,229,994	Y427C	probably damaging	Het
Rftn2	A	T	1: 55,211,192	C131*	probably null	Het
Rps6ka2	A	G	17: 7,289,003	D474G	probably benign	Het
Rsbn1l	T	C	5: 20,951,736	E17G	probably damaging	Het
Ryr2	T	C	13: 11,705,699	M2688V	probably benign	Het
Slc22a18	C	A	7: 143,492,837		probably benign	Het
Smarcc1	A	G	9: 110,132,126		probably benign	Het
Soat2	T	C	15: 102,162,115	V451A	probably damaging	Het
Sptlc2	A	T	12: 87,309,893		probably benign	Het
Tada1	C	T	1: 166,392,634	L308F	probably damaging	Het
Tango2	A	T	16: 18,310,867		probably null	Het
Tbc1d15	A	T	10: 115,229,206	V158D	probably damaging	Het
Tcrg-V3	A	G	13: 19,243,253	Y102C	probably damaging	Het
Tmx2	A	T	2: 84,673,244		probably benign	Het
Tpte	T	A	8: 22,305,858	I79K	probably benign	Het
Trav6-1	A	G	14: 52,638,742	I40V	probably benign	Het
Ubash3a	T	C	17: 31,231,481	S377P	possibly damaging	Het
Vmn2r7	T	C	3: 64,693,025	D575G	probably damaging	Het
Vps41	A	G	13: 18,853,479	D704G	possibly damaging	Het
Vwa5a	T	C	9: 38,726,963	S261P	possibly damaging	Het
Zc3hav1	A	G	6: 38,340,329	V112A	probably damaging	Het

Other mutations in Ppfibp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00426:Ppfibp2	APN	7	107708805	missense	probably damaging	1.00
IGL00429:Ppfibp2	APN	7	107697594	missense	probably benign	0.18
IGL00785:Ppfibp2	APN	7	107737887	missense	probably benign
IGL00821:Ppfibp2	APN	7	107729876	missense	probably damaging	1.00
IGL01295:Ppfibp2	APN	7	107747539	unclassified	probably benign
IGL01361:Ppfibp2	APN	7	107744301	splice site	probably null
IGL02115:Ppfibp2	APN	7	107739318	unclassified	probably benign
IGL02323:Ppfibp2	APN	7	107738629	missense	probably damaging	1.00
IGL02731:Ppfibp2	APN	7	107746422	missense	possibly damaging	0.92
IGL03343:Ppfibp2	APN	7	107737919	nonsense	probably null
R0142:Ppfibp2	UTSW	7	107744177	missense	probably damaging	1.00
R0555:Ppfibp2	UTSW	7	107729174	missense	probably damaging	1.00
R0630:Ppfibp2	UTSW	7	107738599	critical splice acceptor site	probably null
R1374:Ppfibp2	UTSW	7	107685988	splice site	probably benign
R1668:Ppfibp2	UTSW	7	107729892	missense	probably damaging	1.00
R1731:Ppfibp2	UTSW	7	107740589	missense	probably damaging	1.00
R1830:Ppfibp2	UTSW	7	107637297	missense	probably damaging	1.00
R1902:Ppfibp2	UTSW	7	107746378	missense	probably damaging	1.00
R2061:Ppfibp2	UTSW	7	107739230	missense	probably damaging	1.00
R2929:Ppfibp2	UTSW	7	107697651	missense	probably damaging	0.99
R3777:Ppfibp2	UTSW	7	107729189	missense	probably benign	0.00
R3778:Ppfibp2	UTSW	7	107729189	missense	probably benign	0.00
R4839:Ppfibp2	UTSW	7	107742985	missense	probably damaging	1.00
R4879:Ppfibp2	UTSW	7	107729183	missense	probably benign	0.01
R5643:Ppfibp2	UTSW	7	107737890	missense	probably damaging	1.00
R5773:Ppfibp2	UTSW	7	107685872	missense	possibly damaging	0.74
R6255:Ppfibp2	UTSW	7	107681762	missense	probably damaging	0.96
R6356:Ppfibp2	UTSW	7	107681769	missense	probably benign	0.01
R6843:Ppfibp2	UTSW	7	107727731	missense	probably benign	0.00
R6889:Ppfibp2	UTSW	7	107737981	missense	possibly damaging	0.94
R7051:Ppfibp2	UTSW	7	107717718	missense	probably damaging	1.00
R7194:Ppfibp2	UTSW	7	107722980	critical splice donor site	probably null
R7654:Ppfibp2	UTSW	7	107738611	missense	probably damaging	0.99
R7678:Ppfibp2	UTSW	7	107716666	missense	probably damaging	0.98
R7895:Ppfibp2	UTSW	7	107721317	splice site	probably null
R8385:Ppfibp2	UTSW	7	107697687	missense	probably benign	0.44
R8434:Ppfibp2	UTSW	7	107728750	critical splice donor site	probably null
R8691:Ppfibp2	UTSW	7	107747578	missense	probably damaging	0.99
R8695:Ppfibp2	UTSW	7	107685856	splice site	probably benign
R8700:Ppfibp2	UTSW	7	107746395	missense	possibly damaging	0.94
R8755:Ppfibp2	UTSW	7	107744225	missense	probably damaging	1.00
R9172:Ppfibp2	UTSW	7	107738318	nonsense	probably null
R9182:Ppfibp2	UTSW	7	107708846	missense	possibly damaging	0.72
R9355:Ppfibp2	UTSW	7	107722962	missense	probably benign	0.00
R9545:Ppfibp2	UTSW	7	107738297	missense	probably damaging	1.00
R9688:Ppfibp2	UTSW	7	107719241	missense	probably benign	0.02
RF022:Ppfibp2	UTSW	7	107697610	missense	probably damaging	1.00
Z1177:Ppfibp2	UTSW	7	107743050	missense	possibly damaging	0.85

Posted On

2015-04-16