Mutagenetix > Incidental Mutation

Incidental Mutation 'R4860:Ppfibp1'

472663

Institutional Source

Beutler Lab

Gene Symbol

Ppfibp1

Ensembl Gene

ENSMUSG00000016487

Gene Name

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

Synonyms

MMRRC Submission

042471-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.798) question?

Stock #

R4860 (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 146990514 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 91 (T91A)

Ref Sequence

ENSEMBL: ENSMUSP00000144887 (fasta)

Gene Model

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

AlphaFold

Q8C8U0

Predicted Effect

probably benign
Transcript: ENSMUST00000016631
AA Change: T91A

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

SMART Domains

Protein: ENSMUSP00000016631
Gene: ENSMUSG00000016487
AA Change: T91A

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: T91A

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

SMART Domains

Protein: ENSMUSP00000107250
Gene: ENSMUSG00000016487
AA Change: T91A

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 benign
Transcript: ENSMUST00000154221

SMART Domains

Protein: ENSMUSP00000122515
Gene: ENSMUSG00000016487

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

Predicted Effect

probably benign
Transcript: ENSMUST00000204660
AA Change: T91A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000144887
Gene: ENSMUSG00000016487
AA Change: T91A

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

Meta Mutation Damage Score

0.0789

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.3%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 72,455,423	S466P	possibly damaging	Het
1700061G19Rik	A	G	17: 56,888,655	N684S	probably benign	Het
4930435E12Rik	A	G	16: 38,828,145	S201P	probably damaging	Het
Ablim1	T	C	19: 57,079,866	T267A	probably damaging	Het
Acap2	A	T	16: 31,103,499	L724Q	possibly damaging	Het
Adcy4	T	C	14: 55,781,927	T89A	possibly damaging	Het
Agrp	T	C	8: 105,567,368	E41G	probably benign	Het
Akr1d1	G	A	6: 37,564,491	V308M	probably damaging	Het
Ap1m2	C	T	9: 21,309,674	R54Q	probably benign	Het
Arhgap45	T	A	10: 80,027,066	V692E	probably damaging	Het
Arid5b	G	T	10: 68,243,095	N137K	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
BC048679	T	C	7: 81,495,720	N27D	probably benign	Het
Ccdc78	A	G	17: 25,788,700	N237S	probably benign	Het
Cd46	G	A	1: 195,062,396	L345F	possibly damaging	Het
Cngb3	A	T	4: 19,425,569	N459I	possibly damaging	Het
Ctnnd2	A	G	15: 30,881,167	E731G	probably damaging	Het
Ctsh	A	G	9: 90,054,548	E26G	probably benign	Het
Cul1	G	T	6: 47,517,146	K464N	probably benign	Het
Cul1	T	A	6: 47,517,191	S479R	probably damaging	Het
Dcaf5	A	T	12: 80,340,232	D373E	probably benign	Het
Ddx58	G	T	4: 40,210,000	S644R	probably damaging	Het
Dhcr7	A	G	7: 143,840,500	Q126R	probably benign	Het
Dok2	T	C	14: 70,777,516	F228L	probably damaging	Het
Dpep3	T	G	8: 105,976,189	I314L	probably benign	Het
Eps8	A	G	6: 137,514,295	F362L	probably damaging	Het
Espn	G	T	4: 152,138,846	R250S	probably damaging	Het
Faf1	A	C	4: 109,742,896	N163H	probably damaging	Het
Fam198b	C	A	3: 79,936,674	S36*	probably null	Het
Fam71e2	C	T	7: 4,757,469		probably null	Het
Fcho1	C	T	8: 71,710,481	V635I	probably benign	Het
Gm7579	G	A	7: 142,211,908	C17Y	unknown	Het
Gm996	T	C	2: 25,578,753	Y382C	probably damaging	Het
Gpx8	G	T	13: 113,045,508	Y130*	probably null	Het
Gvin1	A	T	7: 106,163,436	Y609N	possibly damaging	Het
Hectd4	T	A	5: 121,305,818	M30K	probably benign	Het
Iqub	T	C	6: 24,450,842	D586G	probably damaging	Het
Klhl25	T	C	7: 75,867,050	I568T	probably benign	Het
Larp6	A	G	9: 60,737,810	E411G	probably damaging	Het
Lepr	A	C	4: 101,789,337	I822L	probably benign	Het
Lrig3	C	A	10: 126,011,052	D896E	probably benign	Het
Lrp1	C	T	10: 127,553,824	G3114D	probably damaging	Het
Macf1	A	T	4: 123,486,750	Y1263N	probably damaging	Het
Mapk10	T	C	5: 102,990,619	D180G	probably damaging	Het
Matr3	T	A	18: 35,581,640	V113E	probably damaging	Het
Mbd4	A	T	6: 115,848,926	F368Y	possibly damaging	Het
Mcpt8	G	A	14: 56,082,280	R238W	probably benign	Het
Mcrip2	G	T	17: 25,864,647	T86N	possibly damaging	Het
Mink1	A	G	11: 70,611,592	N1043S	probably damaging	Het
Muc4	G	A	16: 32,754,616	G1497R	probably benign	Het
Muc4	T	A	16: 32,754,625	S1500T	probably benign	Het
Nbeal2	G	A	9: 110,635,194	T1128I	probably benign	Het
Nrg2	T	A	18: 36,196,547	Y205F	probably damaging	Het
Nubp2	A	G	17: 24,884,456	M149T	probably benign	Het
Olfr1062	T	C	2: 86,422,957	T240A	probably damaging	Het
Olfr462	T	A	11: 87,889,225	M224L	probably damaging	Het
Olfr974	G	T	9: 39,942,504	M81I	probably benign	Het
Pax3	A	G	1: 78,192,456	I191T	possibly damaging	Het
Pdcd5	T	C	7: 35,643,710	N137D	possibly damaging	Het
Pik3c2a	G	A	7: 116,340,156	A1649V	probably damaging	Het
Pkhd1l1	T	C	15: 44,537,378	S2183P	possibly damaging	Het
Plekho1	T	A	3: 95,988,993	Q388L	possibly damaging	Het
Ptger4	G	T	15: 5,242,606	N177K	probably benign	Het
Reln	A	G	5: 21,901,751	F3207S	probably benign	Het
Ripk4	C	T	16: 97,751,536	R194H	probably damaging	Het
Rnf112	A	T	11: 61,452,744	C112S	possibly damaging	Het
Rprd1b	T	G	2: 158,074,935	Y278*	probably null	Het
Sel1l	A	G	12: 91,831,602	L140P	probably damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc38a3	A	G	9: 107,655,064	V423A	probably damaging	Het
Slitrk6	T	C	14: 110,751,883	T131A	probably damaging	Het
Slmap	A	T	14: 26,460,209	V323E	probably benign	Het
Smim6	T	C	11: 115,913,504	V39A	probably benign	Het
Sorbs1	T	C	19: 40,337,005	T382A	probably benign	Het
Sparc	G	A	11: 55,399,211	T218I	possibly damaging	Het
Steap1	A	T	5: 5,736,589	F283I	probably damaging	Het
Stil	A	G	4: 115,038,474	T586A	probably benign	Het
Tbce	T	A	13: 14,019,795	D93V	probably damaging	Het
Tcf12	C	T	9: 71,858,840	G504S	probably null	Het
Tle4	A	T	19: 14,464,345	I435K	probably benign	Het
Tmem245	A	G	4: 56,899,164	F254S	probably damaging	Het
Tmem251	A	T	12: 102,744,055		probably benign	Het
Tubgcp3	T	C	8: 12,649,722	K377R	probably benign	Het
Ush2a	A	T	1: 188,553,275	T2003S	probably benign	Het
Usp53	A	G	3: 122,961,363	S32P	possibly damaging	Het
Vmn1r78	T	A	7: 12,152,756	L98Q	probably damaging	Het
Vmn2r116	A	C	17: 23,401,803	Q837P	probably benign	Het
Vmn2r3	T	C	3: 64,275,601	I226V	probably benign	Het
Vmn2r84	T	A	10: 130,385,843	D836V	probably damaging	Het
Vps13d	A	G	4: 145,087,161	F165L	probably benign	Het
Vstm4	A	G	14: 32,863,785	E103G	possibly damaging	Het
Zfp870	A	T	17: 32,883,340	C339*	probably null	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
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

PCR Primer
(F):5'- AACCAAGACAGGGTACTTGTTTTC -3'
(R):5'- GTGCTTAATACAGGTGTTGCAC -3'

Sequencing Primer
(F):5'- CTGTTTACTCAGAAATGGGGTAAGTC -3'
(R):5'- CATATATGTGATTCAAAGTTGCAAGG -3'

Posted On

2017-04-14