Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02711:Ppfibp1'

304575

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppfibp1

Ensembl Gene

ENSMUSG00000016487

Gene Name

PTPRF interacting protein, binding protein 1 (liprin beta 1)

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.801) question?

Stock #

IGL02711

Quality Score

Status

Chromosome

Chromosomal Location

146888487-147032025 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 147026238 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 794 (Y794*)

Ref Sequence

ENSEMBL: ENSMUSP00000107250 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016631] [ENSMUST00000111623]

AlphaFold

Q8C8U0

Predicted Effect

probably null
Transcript: ENSMUST00000016631
AA Change: Y783*

SMART Domains

Protein: ENSMUSP00000016631
Gene: ENSMUSG00000016487
AA Change: Y783*

Domain	Start	End	E-Value	Type
low complexity region	1	13	N/A	INTRINSIC
PDB:3QH9\|A	180	256	3e-8	PDB
low complexity region	345	358	N/A	INTRINSIC
low complexity region	426	441	N/A	INTRINSIC
low complexity region	530	546	N/A	INTRINSIC
SAM	603	670	3.06e-13	SMART
SAM	675	741	2.39e-15	SMART
SAM	763	835	7.91e-7	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000111623
AA Change: Y794*

SMART Domains

Protein: ENSMUSP00000107250
Gene: ENSMUSG00000016487
AA Change: Y794*

Domain	Start	End	E-Value	Type
low complexity region	1	13	N/A	INTRINSIC
PDB:3QH9\|A	180	256	3e-8	PDB
low complexity region	272	284	N/A	INTRINSIC
low complexity region	356	369	N/A	INTRINSIC
low complexity region	437	452	N/A	INTRINSIC
low complexity region	541	557	N/A	INTRINSIC
SAM	614	681	3.06e-13	SMART
SAM	686	752	2.39e-15	SMART
SAM	774	846	7.91e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123902

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205044

Meta Mutation Damage Score

0.9755

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein was found to interact with S100A4, a calcium-binding protein related to tumor invasiveness and metastasis. In vitro experiment demonstrated that the interaction inhibited the phosphorylation of this protein by protein kinase C and protein kinase CK2. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	T	5: 8,723,245		probably null	Het
Adamts10	T	A	17: 33,538,272	M400K	probably damaging	Het
Adamts17	G	A	7: 67,052,040		probably benign	Het
Adh5	A	G	3: 138,454,673	K323E	probably damaging	Het
Angptl2	T	C	2: 33,228,243	W10R	probably benign	Het
Arhgap15	T	C	2: 44,116,662	F264L	possibly damaging	Het
Atp6v1g3	T	A	1: 138,283,681	L33Q	probably damaging	Het
Baz2b	A	T	2: 59,917,505		probably benign	Het
BC027072	T	C	17: 71,749,382	D1100G	probably benign	Het
Capn11	A	G	17: 45,632,415	F611S	probably damaging	Het
Cep152	T	A	2: 125,563,942	T1557S	possibly damaging	Het
Cep76	A	T	18: 67,638,336	S75R	probably benign	Het
Cps1	A	G	1: 67,212,517		probably benign	Het
Dbf4	G	T	5: 8,408,235	A199E	probably benign	Het
Gldc	C	T	19: 30,145,146		probably null	Het
Hspa14	G	A	2: 3,502,520	A117V	probably benign	Het
Igkv4-80	G	A	6: 69,016,817	P30L	probably damaging	Het
Itga2b	A	T	11: 102,465,725	W292R	possibly damaging	Het
Kansl1	A	T	11: 104,335,575	S982T	probably damaging	Het
Klhdc7b	A	T	15: 89,388,043	K1043*	probably null	Het
Kmt2a	A	T	9: 44,824,523		probably benign	Het
Krt86	T	C	15: 101,473,662	Y38H	probably damaging	Het
Lingo4	T	C	3: 94,403,393	I546T	probably benign	Het
Lrrk1	A	G	7: 66,330,767	S222P	probably damaging	Het
Lrrk2	T	C	15: 91,685,822	V178A	possibly damaging	Het
Maml2	T	C	9: 13,620,063	V191A	probably benign	Het
Msh3	T	C	13: 92,351,311	T133A	probably damaging	Het
Nck1	T	C	9: 100,508,620	D12G	probably damaging	Het
Nox4	T	C	7: 87,396,868	Y572H	probably damaging	Het
Nqo1	A	T	8: 107,392,931	L30Q	probably damaging	Het
Olfr994	A	T	2: 85,430,739	V30E	probably damaging	Het
Oxr1	A	G	15: 41,653,671		probably benign	Het
Pcdhb10	A	C	18: 37,412,726	D285A	possibly damaging	Het
Pclo	A	G	5: 14,522,308	N569S	unknown	Het
Ripor3	T	G	2: 168,006,280		probably benign	Het
Rpe65	C	A	3: 159,622,877	H441N	possibly damaging	Het
St14	A	G	9: 31,089,900	V845A	probably benign	Het
Tmem116	T	A	5: 121,487,741		probably benign	Het
Tnfrsf11b	A	T	15: 54,256,136	D147E	probably benign	Het
Ttn	C	A	2: 76,730,122	G27566*	probably null	Het
Zscan18	G	T	7: 12,775,117		probably benign	Het

Other mutations in Ppfibp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01063:Ppfibp1	APN	6	147029697	missense	probably benign	0.07
IGL02644:Ppfibp1	APN	6	147022440	missense	probably damaging	1.00
IGL02737:Ppfibp1	APN	6	147027308	missense	probably damaging	1.00
IGL02745:Ppfibp1	APN	6	147022354	unclassified	probably benign
IGL03120:Ppfibp1	APN	6	146998169	missense	probably benign	0.00
IGL03300:Ppfibp1	APN	6	147030327	missense	probably damaging	1.00
R0114:Ppfibp1	UTSW	6	146998233	missense	probably benign	0.04
R0480:Ppfibp1	UTSW	6	147019031	splice site	probably null
R0699:Ppfibp1	UTSW	6	147026222	missense	probably damaging	0.99
R1515:Ppfibp1	UTSW	6	147027432	missense	probably benign
R1830:Ppfibp1	UTSW	6	147022259	critical splice donor site	probably null
R1858:Ppfibp1	UTSW	6	146990592	missense	probably benign	0.06
R2160:Ppfibp1	UTSW	6	147027453	missense	probably damaging	0.98
R2389:Ppfibp1	UTSW	6	147022171	missense	probably damaging	1.00
R2517:Ppfibp1	UTSW	6	146992444	missense	probably damaging	1.00
R3882:Ppfibp1	UTSW	6	146998221	missense	possibly damaging	0.67
R4035:Ppfibp1	UTSW	6	146996836	missense	probably damaging	0.99
R4202:Ppfibp1	UTSW	6	147029581	missense	probably damaging	1.00
R4205:Ppfibp1	UTSW	6	147029581	missense	probably damaging	1.00
R4420:Ppfibp1	UTSW	6	147026238	nonsense	probably null
R4860:Ppfibp1	UTSW	6	146990514	missense	probably benign	0.01
R4860:Ppfibp1	UTSW	6	146990514	missense	probably benign	0.01
R4974:Ppfibp1	UTSW	6	147030419	utr 3 prime	probably benign
R5163:Ppfibp1	UTSW	6	147022131	splice site	probably null
R5180:Ppfibp1	UTSW	6	147027321	missense	probably damaging	1.00
R5388:Ppfibp1	UTSW	6	146996840	missense	probably damaging	1.00
R5388:Ppfibp1	UTSW	6	147016330	missense	probably damaging	1.00
R5458:Ppfibp1	UTSW	6	147012435	intron	probably benign
R5479:Ppfibp1	UTSW	6	147030150	critical splice donor site	probably null
R5631:Ppfibp1	UTSW	6	146996860	missense	probably damaging	1.00
R6277:Ppfibp1	UTSW	6	147005924	missense	probably benign	0.01
R6577:Ppfibp1	UTSW	6	146999655	splice site	probably null
R6602:Ppfibp1	UTSW	6	146978221	missense	possibly damaging	0.62
R7320:Ppfibp1	UTSW	6	146978053	missense	probably damaging	1.00
R7440:Ppfibp1	UTSW	6	147019503	missense	probably benign	0.01
R7455:Ppfibp1	UTSW	6	147016350	missense	probably damaging	1.00
R7710:Ppfibp1	UTSW	6	146996405	missense	probably benign	0.00
R8379:Ppfibp1	UTSW	6	147030345	missense	probably damaging	1.00
R8439:Ppfibp1	UTSW	6	147000950	missense	possibly damaging	0.94
R8692:Ppfibp1	UTSW	6	146990515	missense	probably benign	0.00
R8913:Ppfibp1	UTSW	6	147022449	missense	probably damaging	0.99
R8926:Ppfibp1	UTSW	6	147019488	missense	probably damaging	1.00
R8943:Ppfibp1	UTSW	6	147019183	critical splice donor site	probably null
R9166:Ppfibp1	UTSW	6	147019482	missense	probably damaging	1.00
R9372:Ppfibp1	UTSW	6	146996809	missense	probably damaging	1.00
R9800:Ppfibp1	UTSW	6	147016271	missense	probably benign

Posted On

2015-04-16