Mutagenetix > Incidental Mutation

Incidental Mutation 'R6277:Ppfibp1'

507707

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: 0.801) question?

Stock #

R6277 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146888487-147032025 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 147005924 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 228 (D228E)

Ref Sequence

ENSEMBL: ENSMUSP00000122515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016631] [ENSMUST00000111623] [ENSMUST00000136837] [ENSMUST00000154221]

AlphaFold

Q8C8U0

Predicted Effect

probably benign
Transcript: ENSMUST00000016631
AA Change: D342E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000016631
Gene: ENSMUSG00000016487
AA Change: D342E

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
AA Change: D353E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000107250
Gene: ENSMUSG00000016487
AA Change: D353E

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

probably benign
Transcript: ENSMUST00000136837

SMART Domains

Protein: ENSMUSP00000114340
Gene: ENSMUSG00000016487

Domain	Start	End	E-Value	Type
low complexity region	14	29	N/A	INTRINSIC
low complexity region	129	145	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149203

Predicted Effect

probably benign
Transcript: ENSMUST00000154221
AA Change: D228E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000122515
Gene: ENSMUSG00000016487
AA Change: D228E

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

Predicted Effect

unknown
Transcript: ENSMUST00000155415
AA Change: D34E

SMART Domains

Protein: ENSMUSP00000121270
Gene: ENSMUSG00000016487
AA Change: D34E

Domain	Start	End	E-Value	Type
low complexity region	38	51	N/A	INTRINSIC
low complexity region	119	134	N/A	INTRINSIC
low complexity region	233	249	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204028

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.2%

Validation Efficiency

96% (70/73)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,663,694	Y105H	possibly damaging	Het
4921539E11Rik	A	T	4: 103,231,471	Y179*	probably null	Het
Abca7	G	C	10: 80,006,158	V1042L	probably benign	Het
Adck5	C	A	15: 76,593,263	T99K	possibly damaging	Het
Adcy5	A	G	16: 35,289,526	T823A	probably benign	Het
Adra1d	G	T	2: 131,561,163	R336S	probably damaging	Het
Arhgap39	A	T	15: 76,735,137	M749K	probably damaging	Het
Arid4a	A	G	12: 71,039,891	R168G	possibly damaging	Het
Atxn10	A	G	15: 85,391,692	T317A	probably benign	Het
Bicc1	T	C	10: 71,027,901	K22E	possibly damaging	Het
Cacna1b	T	G	2: 24,730,796	T281P	probably damaging	Het
Ccdc174	A	T	6: 91,880,291	Q26L	probably damaging	Het
Celf3	T	C	3: 94,485,365	C124R	probably damaging	Het
Cfap44	A	G	16: 44,437,306	E1068G	probably benign	Het
Crybg1	T	A	10: 43,997,259	E1284D	probably benign	Het
Dcbld2	T	A	16: 58,451,756	Y392N	probably damaging	Het
Dcbld2	C	T	16: 58,465,503	P675L	probably damaging	Het
Dnah12	A	T	14: 26,770,482	H1193L	probably damaging	Het
Ern2	A	G	7: 122,186,107	F16L	probably benign	Het
Fam163b	G	T	2: 27,112,751	T78N	probably benign	Het
Fbxw21	A	T	9: 109,145,555	I299K	possibly damaging	Het
Foxg1	A	G	12: 49,385,516	N344S	probably benign	Het
Git2	A	G	5: 114,733,247	I202T	probably damaging	Het
Gm11595	G	T	11: 99,772,684	P57T	unknown	Het
Gm11639	G	C	11: 105,010,322	E4422D	possibly damaging	Het
Gm12258	G	A	11: 58,854,287	V15M	probably damaging	Het
Gm13119	A	G	4: 144,363,653	E421G	probably damaging	Het
Gm15056	C	T	8: 20,900,898	G40S	probably damaging	Het
Gm960	G	T	19: 4,627,222	S466*	probably null	Het
Gnal	C	A	18: 67,213,072	H274Q	probably damaging	Het
Hormad2	A	T	11: 4,421,583		probably null	Het
Ighv7-2	A	G	12: 113,912,467	I6T	probably benign	Het
Irf9	A	G	14: 55,607,652	D323G	probably benign	Het
Klhl23	G	T	2: 69,833,752	D482Y	probably damaging	Het
Lama4	A	G	10: 39,106,010	N1745S	probably damaging	Het
Lct	T	A	1: 128,304,237	Y625F	probably benign	Het
Lrrc26	T	C	2: 25,290,104	V39A	probably benign	Het
Mllt6	G	A	11: 97,673,948	A527T	probably damaging	Het
Mrgprb4	T	A	7: 48,198,901	D93V	probably benign	Het
Nlrp5	A	G	7: 23,421,455	D698G	probably damaging	Het
Olfr62	T	A	4: 118,666,323	S269T	probably benign	Het
Pacsin1	T	A	17: 27,705,995		probably null	Het
Padi3	A	T	4: 140,791,161		probably null	Het
Pcdha8	T	C	18: 36,994,358	I631T	probably damaging	Het
Pkn3	G	A	2: 30,082,945	G315D	possibly damaging	Het
Prag1	G	T	8: 36,146,591	R1099L	probably damaging	Het
Prr36	A	G	8: 4,214,746		probably benign	Het
Prrc2c	A	G	1: 162,714,314	S369P	probably benign	Het
Ptprn2	A	G	12: 116,876,180	D441G	probably benign	Het
Slc9c1	G	A	16: 45,606,841		probably benign	Het
Slit1	G	A	19: 41,600,509	T1513I	possibly damaging	Het
Smcr8	C	T	11: 60,778,809	T261M	probably benign	Het
Spata17	G	A	1: 187,193,954	R60*	probably null	Het
Speer4f1	A	G	5: 17,476,243	R40G	probably damaging	Het
Spns3	A	G	11: 72,529,640	V340A	possibly damaging	Het
Srgap3	T	C	6: 112,739,383	I595V	probably benign	Het
Srms	G	A	2: 181,206,245	A489V	possibly damaging	Het
St3gal4	T	C	9: 35,053,262	N169S	probably damaging	Het
Taar5	T	A	10: 23,971,271	V189E	probably damaging	Het
Tbc1d32	G	A	10: 56,195,429	P333L	probably benign	Het
Tet3	G	T	6: 83,368,084	Y1790*	probably null	Het
Ticrr	T	A	7: 79,694,696	H1436Q	probably benign	Het
Ubl7	C	T	9: 57,923,272	L334F	possibly damaging	Het
Unc13a	A	G	8: 71,666,639		probably null	Het
Unc13c	T	C	9: 73,699,169	D1303G	probably damaging	Het
Vmn2r114	A	G	17: 23,290,980	L842P	possibly damaging	Het
Vps35	G	T	8: 85,261,228	Q765K	possibly damaging	Het
Zfp72	G	T	13: 74,372,524	S145*	probably null	Het
Zgrf1	C	T	3: 127,598,812	A1327V	possibly damaging	Het
Zkscan6	T	A	11: 65,828,157	S334R	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
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
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

PCR Primer
(F):5'- TTGCTTATACTTTGGCTGGCAC -3'
(R):5'- AGCTACCAGAATAGACCAGTGG -3'

Sequencing Primer
(F):5'- CTGGCACTATAGCTCAGTGGTACAG -3'
(R):5'- CCAGTGGGTAATACTGCTGG -3'

Posted On

2018-03-15