Mutagenetix > Incidental Mutation

Incidental Mutation 'R7320:Ppfibp1'

568131

Institutional Source

Beutler Lab

Gene Symbol

Ppfibp1

Ensembl Gene

ENSMUSG00000016487

Gene Name

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

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.771) question?

Stock #

R7320 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

146888487-147032025 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 146978053 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 25 (A25V)

Ref Sequence

ENSEMBL: ENSMUSP00000107250 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016631] [ENSMUST00000111623] [ENSMUST00000203730] [ENSMUST00000204660]

AlphaFold

Q8C8U0

Predicted Effect

probably damaging
Transcript: ENSMUST00000016631
AA Change: A25V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000016631
Gene: ENSMUSG00000016487
AA Change: A25V

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 damaging
Transcript: ENSMUST00000111623
AA Change: A25V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107250
Gene: ENSMUSG00000016487
AA Change: A25V

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

probably damaging
Transcript: ENSMUST00000203730
AA Change: A25V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000204660
AA Change: A25V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144887
Gene: ENSMUSG00000016487
AA Change: A25V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	T	A	3: 108,464,303	K650*	probably null	Het
Abcc3	A	G	11: 94,367,645	I458T	probably benign	Het
Adam29	A	G	8: 55,872,714	I235T	possibly damaging	Het
AF529169	A	G	9: 89,601,626	S573P	probably benign	Het
Afap1	G	A	5: 35,948,223	V174I	probably damaging	Het
Ak8	A	T	2: 28,812,992	D456V	probably damaging	Het
Alb	T	C	5: 90,464,987		probably null	Het
Alox12	C	T	11: 70,254,472	A92T	probably benign	Het
Arhgap23	T	C	11: 97,451,545	S218P	probably benign	Het
Blm	G	A	7: 80,455,354	Q1389*	probably null	Het
C1ql4	A	T	15: 99,087,724	V2E	unknown	Het
Casp12	A	G	9: 5,348,897		probably null	Het
Ccdc73	A	T	2: 104,999,176	I1065F	possibly damaging	Het
Ccdc83	C	T	7: 90,224,034	G371D	probably damaging	Het
Cfap65	A	G	1: 74,926,604	S416P	probably damaging	Het
Cftr	T	A	6: 18,319,013	C1351S	probably damaging	Het
Clcn4	A	T	7: 7,291,828	H311Q	probably benign	Het
Cldn13	T	G	5: 134,915,020	I104L	probably benign	Het
Cul9	A	G	17: 46,510,909	V1880A	possibly damaging	Het
Ddx17	A	T	15: 79,531,904	D407E	probably damaging	Het
Ddx28	G	A	8: 106,011,325	P34S	probably damaging	Het
Dnah5	A	T	15: 28,270,470	N973Y	probably null	Het
Dock10	A	G	1: 80,549,704		probably null	Het
Dock3	T	C	9: 106,895,524	D510G	probably benign	Het
Dst	T	A	1: 34,191,094	D2589E	probably benign	Het
E2f7	T	C	10: 110,764,130	Y249H	not run	Het
Eef2kmt	T	C	16: 5,250,509	Y69C	possibly damaging	Het
Erlin1	T	C	19: 44,059,065	Y139C	probably damaging	Het
Exog	G	T	9: 119,462,478	V274L	possibly damaging	Het
Fam83e	G	A	7: 45,722,472	V98M	probably benign	Het
Fras1	C	T	5: 96,709,886	T2013I	probably benign	Het
Gart	G	T	16: 91,621,681	A970E	probably benign	Het
Gga2	T	A	7: 122,002,103	H259L	probably benign	Het
Glis3	C	A	19: 28,531,598	V329F	probably damaging	Het
Gm6356	T	A	14: 6,972,923	N53I	probably damaging	Het
Golgb1	C	A	16: 36,915,951	C1894*	probably null	Het
Ifi203	T	C	1: 173,929,167	N350S	unknown	Het
Isy1	T	A	6: 87,833,706	R55S	unknown	Het
Itsn1	A	T	16: 91,839,699	D678V	unknown	Het
Lhcgr	T	A	17: 88,742,078	R673S	probably benign	Het
Lnx2	C	A	5: 147,020,133	R601L	possibly damaging	Het
Map4	A	G	9: 110,081,517	T1093A	probably benign	Het
Mink1	A	G	11: 70,599,073	K92E	probably benign	Het
Moxd1	A	G	10: 24,301,465	I560V	probably benign	Het
Mrc2	C	A	11: 105,329,235	D327E	possibly damaging	Het
Notch2	A	G	3: 98,131,327	E1262G	possibly damaging	Het
Olfr1025-ps1	A	T	2: 85,918,374	I150F	probably benign	Het
Olfr1052	GTACTTTTT	GT	2: 86,297,994		probably null	Het
Olfr123	T	A	17: 37,796,357	N304K	probably benign	Het
Olfr1298	A	G	2: 111,645,952	L15S	probably benign	Het
Olfr1434	G	A	19: 12,283,816	G256D	possibly damaging	Het
Olfr1477	T	A	19: 13,503,180	M279K	possibly damaging	Het
Olfr653	C	A	7: 104,580,438	S264*	probably null	Het
Olfr785	A	T	10: 129,409,785	T140S	possibly damaging	Het
Pcbp2	T	A	15: 102,473,347	V5E	probably damaging	Het
Pcp4l1	G	A	1: 171,174,465	A42V	possibly damaging	Het
Pgghg	A	T	7: 140,943,040	Y104F	probably benign	Het
Plscr2	T	C	9: 92,291,140		probably null	Het
Ptgfr	C	T	3: 151,835,397	G158D	probably benign	Het
Ptgs2	T	C	1: 150,102,695	F186S	probably damaging	Het
Ptpn14	A	G	1: 189,832,759	E181G	probably benign	Het
Rpgrip1	A	G	14: 52,131,216	K291E	possibly damaging	Het
Rtn4rl1	T	C	11: 75,194,296		probably null	Het
Sema3b	T	A	9: 107,600,942	M415L	probably benign	Het
Sh3bp4	A	G	1: 89,145,494	E688G	probably damaging	Het
Slco6c1	G	A	1: 97,128,162	R5C	possibly damaging	Het
Slmap	A	G	14: 26,460,072	F369L	possibly damaging	Het
Sphk2	T	C	7: 45,712,470	N181S	possibly damaging	Het
Sqor	A	G	2: 122,799,810	T235A	probably benign	Het
St13	A	G	15: 81,389,653	L80P	probably damaging	Het
St3gal6	A	G	16: 58,493,711	Y20H	probably benign	Het
Sun1	T	G	5: 139,248,484	Y899D	probably damaging	Het
Synm	C	T	7: 67,735,380	E845K	possibly damaging	Het
Tg	A	T	15: 66,694,784	D1227V	possibly damaging	Het
Thbs1	A	G	2: 118,114,957	N306D	possibly damaging	Het
Tmcc3	A	T	10: 94,578,495	N51Y	possibly damaging	Het
Usp4	A	G	9: 108,388,306	D856G	probably benign	Het
Vil1	G	A	1: 74,418,444	A79T	probably damaging	Het
Vmn1r119	T	A	7: 21,012,346	H37L	probably damaging	Het
Vmn2r110	A	T	17: 20,596,054	M69K	probably benign	Het
Wdr78	A	T	4: 103,050,187	I634N	possibly damaging	Het
Ywhaq	A	G	12: 21,394,981	L221P	probably damaging	Het
Zfp142	G	A	1: 74,570,008	Q1543*	probably null	Het
Zfp384	T	A	6: 125,024,830	M146K	possibly damaging	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
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
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

PCR Primer
(F):5'- GGCCTTTTCATTAAGCATCAAACC -3'
(R):5'- CACTTCTGCTGTTGAATCTGG -3'

Sequencing Primer
(F):5'- GCATCAAACCATTCATATTTACTGTC -3'
(R):5'- GGGATCTGGCATCTCAATCC -3'

Posted On

2019-06-26