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

Essential gene?

Probably essential (E-score: 0.808) question?

Stock #

R4860 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

146789985-146933523 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 146892012 bp (GRCm39)

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: 73,209,267 (GRCm39)	S466P	possibly damaging	Het
Ablim1	T	C	19: 57,068,298 (GRCm39)	T267A	probably damaging	Het
Acap2	A	T	16: 30,922,317 (GRCm39)	L724Q	possibly damaging	Het
Acsbg3	A	G	17: 57,195,655 (GRCm39)	N684S	probably benign	Het
Adcy4	T	C	14: 56,019,384 (GRCm39)	T89A	possibly damaging	Het
Agrp	T	C	8: 106,294,000 (GRCm39)	E41G	probably benign	Het
Ajm1	T	C	2: 25,468,765 (GRCm39)	Y382C	probably damaging	Het
Akr1d1	G	A	6: 37,541,426 (GRCm39)	V308M	probably damaging	Het
Ap1m2	C	T	9: 21,220,970 (GRCm39)	R54Q	probably benign	Het
Arhgap45	T	A	10: 79,862,900 (GRCm39)	V692E	probably damaging	Het
Arid5b	G	T	10: 68,078,925 (GRCm39)	N137K	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
BC048679	T	C	7: 81,145,468 (GRCm39)	N27D	probably benign	Het
Ccdc78	A	G	17: 26,007,674 (GRCm39)	N237S	probably benign	Het
Cd46	G	A	1: 194,744,704 (GRCm39)	L345F	possibly damaging	Het
Cngb3	A	T	4: 19,425,569 (GRCm39)	N459I	possibly damaging	Het
Ctnnd2	A	G	15: 30,881,313 (GRCm39)	E731G	probably damaging	Het
Ctsh	A	G	9: 89,936,601 (GRCm39)	E26G	probably benign	Het
Cul1	G	T	6: 47,494,080 (GRCm39)	K464N	probably benign	Het
Cul1	T	A	6: 47,494,125 (GRCm39)	S479R	probably damaging	Het
Dcaf5	A	T	12: 80,387,006 (GRCm39)	D373E	probably benign	Het
Dhcr7	A	G	7: 143,394,237 (GRCm39)	Q126R	probably benign	Het
Dok2	T	C	14: 71,014,956 (GRCm39)	F228L	probably damaging	Het
Dpep3	T	G	8: 106,702,821 (GRCm39)	I314L	probably benign	Het
Eps8	A	G	6: 137,491,293 (GRCm39)	F362L	probably damaging	Het
Espn	G	T	4: 152,223,303 (GRCm39)	R250S	probably damaging	Het
Faf1	A	C	4: 109,600,093 (GRCm39)	N163H	probably damaging	Het
Fcho1	C	T	8: 72,163,125 (GRCm39)	V635I	probably benign	Het
Garin5b	C	T	7: 4,760,468 (GRCm39)		probably null	Het
Gask1b	C	A	3: 79,843,981 (GRCm39)	S36*	probably null	Het
Gm7579	G	A	7: 141,765,645 (GRCm39)	C17Y	unknown	Het
Gpx8	G	T	13: 113,182,042 (GRCm39)	Y130*	probably null	Het
Gvin1	A	T	7: 105,762,643 (GRCm39)	Y609N	possibly damaging	Het
Hectd4	T	A	5: 121,443,881 (GRCm39)	M30K	probably benign	Het
Iqub	T	C	6: 24,450,841 (GRCm39)	D586G	probably damaging	Het
Klhl25	T	C	7: 75,516,798 (GRCm39)	I568T	probably benign	Het
Larp6	A	G	9: 60,645,093 (GRCm39)	E411G	probably damaging	Het
Lepr	A	C	4: 101,646,534 (GRCm39)	I822L	probably benign	Het
Lrig3	C	A	10: 125,846,921 (GRCm39)	D896E	probably benign	Het
Lrp1	C	T	10: 127,389,693 (GRCm39)	G3114D	probably damaging	Het
Lyset	A	T	12: 102,710,314 (GRCm39)		probably benign	Het
Macf1	A	T	4: 123,380,543 (GRCm39)	Y1263N	probably damaging	Het
Mapk10	T	C	5: 103,138,485 (GRCm39)	D180G	probably damaging	Het
Matr3	T	A	18: 35,714,693 (GRCm39)	V113E	probably damaging	Het
Mbd4	A	T	6: 115,825,887 (GRCm39)	F368Y	possibly damaging	Het
Mcpt8	G	A	14: 56,319,737 (GRCm39)	R238W	probably benign	Het
Mcrip2	G	T	17: 26,083,621 (GRCm39)	T86N	possibly damaging	Het
Mink1	A	G	11: 70,502,418 (GRCm39)	N1043S	probably damaging	Het
Muc4	G	A	16: 32,754,616 (GRCm38)	G1497R	probably benign	Het
Muc4	T	A	16: 32,754,625 (GRCm38)	S1500T	probably benign	Het
Nbeal2	G	A	9: 110,464,262 (GRCm39)	T1128I	probably benign	Het
Nrg2	T	A	18: 36,329,600 (GRCm39)	Y205F	probably damaging	Het
Nubp2	A	G	17: 25,103,430 (GRCm39)	M149T	probably benign	Het
Or4d2b	T	A	11: 87,780,051 (GRCm39)	M224L	probably damaging	Het
Or8d6	G	T	9: 39,853,800 (GRCm39)	M81I	probably benign	Het
Or8j3c	T	C	2: 86,253,301 (GRCm39)	T240A	probably damaging	Het
Pax3	A	G	1: 78,169,093 (GRCm39)	I191T	possibly damaging	Het
Pdcd5	T	C	7: 35,343,135 (GRCm39)	N137D	possibly damaging	Het
Pik3c2a	G	A	7: 115,939,391 (GRCm39)	A1649V	probably damaging	Het
Pkhd1l1	T	C	15: 44,400,774 (GRCm39)	S2183P	possibly damaging	Het
Plekho1	T	A	3: 95,896,305 (GRCm39)	Q388L	possibly damaging	Het
Ptger4	G	T	15: 5,272,087 (GRCm39)	N177K	probably benign	Het
Reln	A	G	5: 22,106,749 (GRCm39)	F3207S	probably benign	Het
Rigi	G	T	4: 40,210,000 (GRCm39)	S644R	probably damaging	Het
Ripk4	C	T	16: 97,552,736 (GRCm39)	R194H	probably damaging	Het
Rnf112	A	T	11: 61,343,570 (GRCm39)	C112S	possibly damaging	Het
Rprd1b	T	G	2: 157,916,855 (GRCm39)	Y278*	probably null	Het
Sel1l	A	G	12: 91,798,376 (GRCm39)	L140P	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc38a3	A	G	9: 107,532,263 (GRCm39)	V423A	probably damaging	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Slmap	A	T	14: 26,181,364 (GRCm39)	V323E	probably benign	Het
Smim6	T	C	11: 115,804,330 (GRCm39)	V39A	probably benign	Het
Sorbs1	T	C	19: 40,325,449 (GRCm39)	T382A	probably benign	Het
Sparc	G	A	11: 55,290,037 (GRCm39)	T218I	possibly damaging	Het
Steap1	A	T	5: 5,786,589 (GRCm39)	F283I	probably damaging	Het
Stil	A	G	4: 114,895,671 (GRCm39)	T586A	probably benign	Het
Tbce	T	A	13: 14,194,380 (GRCm39)	D93V	probably damaging	Het
Tcf12	C	T	9: 71,766,122 (GRCm39)	G504S	probably null	Het
Tex55	A	G	16: 38,648,507 (GRCm39)	S201P	probably damaging	Het
Tle4	A	T	19: 14,441,709 (GRCm39)	I435K	probably benign	Het
Tmem245	A	G	4: 56,899,164 (GRCm39)	F254S	probably damaging	Het
Tubgcp3	T	C	8: 12,699,722 (GRCm39)	K377R	probably benign	Het
Ush2a	A	T	1: 188,285,472 (GRCm39)	T2003S	probably benign	Het
Usp53	A	G	3: 122,755,012 (GRCm39)	S32P	possibly damaging	Het
Vmn1r78	T	A	7: 11,886,683 (GRCm39)	L98Q	probably damaging	Het
Vmn2r116	A	C	17: 23,620,777 (GRCm39)	Q837P	probably benign	Het
Vmn2r3	T	C	3: 64,183,022 (GRCm39)	I226V	probably benign	Het
Vmn2r84	T	A	10: 130,221,712 (GRCm39)	D836V	probably damaging	Het
Vps13d	A	G	4: 144,813,731 (GRCm39)	F165L	probably benign	Het
Vstm4	A	G	14: 32,585,742 (GRCm39)	E103G	possibly damaging	Het
Zfp870	A	T	17: 33,102,314 (GRCm39)	C339*	probably null	Het

Other mutations in Ppfibp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01063:Ppfibp1	APN	6	146,931,195 (GRCm39)	missense	probably benign	0.07
IGL02644:Ppfibp1	APN	6	146,923,938 (GRCm39)	missense	probably damaging	1.00
IGL02711:Ppfibp1	APN	6	146,927,736 (GRCm39)	nonsense	probably null
IGL02737:Ppfibp1	APN	6	146,928,806 (GRCm39)	missense	probably damaging	1.00
IGL02745:Ppfibp1	APN	6	146,923,852 (GRCm39)	unclassified	probably benign
IGL03120:Ppfibp1	APN	6	146,899,667 (GRCm39)	missense	probably benign	0.00
IGL03300:Ppfibp1	APN	6	146,931,825 (GRCm39)	missense	probably damaging	1.00
R0114:Ppfibp1	UTSW	6	146,899,731 (GRCm39)	missense	probably benign	0.04
R0480:Ppfibp1	UTSW	6	146,920,529 (GRCm39)	splice site	probably null
R0699:Ppfibp1	UTSW	6	146,927,720 (GRCm39)	missense	probably damaging	0.99
R1515:Ppfibp1	UTSW	6	146,928,930 (GRCm39)	missense	probably benign
R1830:Ppfibp1	UTSW	6	146,923,757 (GRCm39)	critical splice donor site	probably null
R1858:Ppfibp1	UTSW	6	146,892,090 (GRCm39)	missense	probably benign	0.06
R2160:Ppfibp1	UTSW	6	146,928,951 (GRCm39)	missense	probably damaging	0.98
R2389:Ppfibp1	UTSW	6	146,923,669 (GRCm39)	missense	probably damaging	1.00
R2517:Ppfibp1	UTSW	6	146,893,942 (GRCm39)	missense	probably damaging	1.00
R3882:Ppfibp1	UTSW	6	146,899,719 (GRCm39)	missense	possibly damaging	0.67
R4035:Ppfibp1	UTSW	6	146,898,334 (GRCm39)	missense	probably damaging	0.99
R4202:Ppfibp1	UTSW	6	146,931,079 (GRCm39)	missense	probably damaging	1.00
R4205:Ppfibp1	UTSW	6	146,931,079 (GRCm39)	missense	probably damaging	1.00
R4420:Ppfibp1	UTSW	6	146,927,736 (GRCm39)	nonsense	probably null
R4860:Ppfibp1	UTSW	6	146,892,012 (GRCm39)	missense	probably benign	0.01
R4974:Ppfibp1	UTSW	6	146,931,917 (GRCm39)	utr 3 prime	probably benign
R5163:Ppfibp1	UTSW	6	146,923,629 (GRCm39)	splice site	probably null
R5180:Ppfibp1	UTSW	6	146,928,819 (GRCm39)	missense	probably damaging	1.00
R5388:Ppfibp1	UTSW	6	146,917,828 (GRCm39)	missense	probably damaging	1.00
R5388:Ppfibp1	UTSW	6	146,898,338 (GRCm39)	missense	probably damaging	1.00
R5458:Ppfibp1	UTSW	6	146,913,933 (GRCm39)	intron	probably benign
R5479:Ppfibp1	UTSW	6	146,931,648 (GRCm39)	critical splice donor site	probably null
R5631:Ppfibp1	UTSW	6	146,898,358 (GRCm39)	missense	probably damaging	1.00
R6277:Ppfibp1	UTSW	6	146,907,422 (GRCm39)	missense	probably benign	0.01
R6577:Ppfibp1	UTSW	6	146,901,153 (GRCm39)	splice site	probably null
R6602:Ppfibp1	UTSW	6	146,879,719 (GRCm39)	missense	possibly damaging	0.62
R7320:Ppfibp1	UTSW	6	146,879,551 (GRCm39)	missense	probably damaging	1.00
R7440:Ppfibp1	UTSW	6	146,921,001 (GRCm39)	missense	probably benign	0.01
R7455:Ppfibp1	UTSW	6	146,917,848 (GRCm39)	missense	probably damaging	1.00
R7710:Ppfibp1	UTSW	6	146,897,903 (GRCm39)	missense	probably benign	0.00
R8379:Ppfibp1	UTSW	6	146,931,843 (GRCm39)	missense	probably damaging	1.00
R8439:Ppfibp1	UTSW	6	146,902,448 (GRCm39)	missense	possibly damaging	0.94
R8692:Ppfibp1	UTSW	6	146,892,013 (GRCm39)	missense	probably benign	0.00
R8913:Ppfibp1	UTSW	6	146,923,947 (GRCm39)	missense	probably damaging	0.99
R8926:Ppfibp1	UTSW	6	146,920,986 (GRCm39)	missense	probably damaging	1.00
R8943:Ppfibp1	UTSW	6	146,920,681 (GRCm39)	critical splice donor site	probably null
R9166:Ppfibp1	UTSW	6	146,920,980 (GRCm39)	missense	probably damaging	1.00
R9372:Ppfibp1	UTSW	6	146,898,307 (GRCm39)	missense	probably damaging	1.00
R9800:Ppfibp1	UTSW	6	146,917,769 (GRCm39)	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