Mutagenetix > Incidental Mutation

Incidental Mutation 'R4035:Ppfibp1'

475319

Institutional Source

Beutler Lab

Gene Symbol

Ppfibp1

Ensembl Gene

ENSMUSG00000016487

Gene Name

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

Synonyms

MMRRC Submission

041613-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.801) question?

Stock #

R4035 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

146888487-147032025 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 146996836 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 97 (K97E)

Ref Sequence

ENSEMBL: ENSMUSP00000122515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016631] [ENSMUST00000111623] [ENSMUST00000154221] [ENSMUST00000204660]

AlphaFold

Q8C8U0

Predicted Effect

probably benign
Transcript: ENSMUST00000016631

SMART Domains

Protein: ENSMUSP00000016631
Gene: ENSMUSG00000016487

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 benign
Transcript: ENSMUST00000111623

SMART Domains

Protein: ENSMUSP00000107250
Gene: ENSMUSG00000016487

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: ENSMUST00000126774

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133825

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149203

Predicted Effect

probably damaging
Transcript: ENSMUST00000154221
AA Change: K97E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122515
Gene: ENSMUSG00000016487
AA Change: K97E

Domain	Start	End	E-Value	Type
coiled coil region	7	196	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204660

SMART Domains

Protein: ENSMUSP00000144887
Gene: ENSMUSG00000016487

Domain	Start	End	E-Value	Type
low complexity region	1	13	N/A	INTRINSIC
coiled coil region	99	130	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205056

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (51/51)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	G	6: 124,356,920	F34L	probably benign	Het
Abcb8	A	G	5: 24,400,621	S168G	probably benign	Het
Ano5	A	G	7: 51,566,485		probably benign	Het
Api5	C	T	2: 94,425,613	R243Q	possibly damaging	Het
Bhlhe41	A	G	6: 145,863,028	S353P	probably benign	Het
Ccdc88c	G	A	12: 100,930,524	A1389V	possibly damaging	Het
Cep350	T	C	1: 155,959,795	T52A	probably benign	Het
Coro2b	A	G	9: 62,425,789		probably benign	Het
Ctcf	A	T	8: 105,664,157	E132V	possibly damaging	Het
Cwf19l2	A	T	9: 3,456,803	H712L	probably benign	Het
Cxcl2	A	T	5: 90,904,413	Q87L	possibly damaging	Het
D3Ertd254e	T	G	3: 36,164,840	H337Q	possibly damaging	Het
Dopey1	T	C	9: 86,494,433	V240A	probably damaging	Het
Etfdh	C	T	3: 79,613,711	V294I	probably benign	Het
Fnip2	C	T	3: 79,479,501	V973I	probably benign	Het
Fyco1	T	C	9: 123,801,283	T1286A	probably benign	Het
Gbp10	T	A	5: 105,224,458	E145D	possibly damaging	Het
Gm13084	T	A	4: 143,810,456	D435V	probably benign	Het
Gsdme	A	T	6: 50,229,448	N138K	possibly damaging	Het
Hcn4	A	G	9: 58,843,889	D266G	probably benign	Het
Henmt1	T	C	3: 108,958,685	V199A	probably damaging	Het
Hmcn2	A	T	2: 31,336,612	K200*	probably null	Het
Hmgcr	C	G	13: 96,651,063	L852F	probably damaging	Het
Ifi203	T	A	1: 173,929,474		probably benign	Het
Isl2	A	G	9: 55,542,470	S119G	probably benign	Het
Krba1	A	G	6: 48,411,680	N538D	probably damaging	Het
Lcorl	A	T	5: 45,734,041	N323K	possibly damaging	Het
Mfsd2b	A	G	12: 4,870,578	S80P	probably damaging	Het
Ndst4	C	T	3: 125,438,736	T318M	probably damaging	Het
Nlrp4f	T	C	13: 65,194,007	N608S	probably benign	Het
Nolc1	GCA	GCACCA	19: 46,081,358		probably benign	Het
Olfr212	A	G	6: 116,516,629	N284S	possibly damaging	Het
Olfr878	G	A	9: 37,918,641		probably benign	Het
Osbpl2	G	A	2: 180,161,560	R475H	probably damaging	Het
Prpsap1	A	T	11: 116,473,008	M263K	probably benign	Het
Prtg	G	T	9: 72,842,709	E132*	probably null	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Rttn	T	C	18: 88,995,653	V482A	probably benign	Het
Samsn1	A	G	16: 75,909,185	M1T	probably null	Het
Scel	A	G	14: 103,530,004	N33S	probably damaging	Het
Sema4g	A	T	19: 45,001,414	Y644F	probably damaging	Het
Slc39a10	G	A	1: 46,812,074	T752M	probably damaging	Het
Snx27	T	C	3: 94,524,244	D281G	probably damaging	Het
Spesp1	T	A	9: 62,273,036	I197L	probably benign	Het
Srsf4	C	T	4: 131,900,102		probably benign	Het
Tpgs1	A	G	10: 79,669,365		probably null	Het
Trpc2	G	A	7: 102,084,504	S220N	probably damaging	Het
Ttk	C	A	9: 83,854,837	P450T	possibly damaging	Het
Ttn	T	G	2: 76,909,821	Q3458P	probably benign	Het
Ube2z	A	G	11: 96,061,067	F152L	probably damaging	Het
Utp20	C	T	10: 88,762,806	V103I	probably benign	Het
Zfa-ps	T	A	10: 52,544,540		noncoding transcript	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
IGL02711:Ppfibp1	APN	6	147026238	nonsense	probably null
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
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

Predicted Primers

Posted On

2017-04-14