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

045370-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.826) question?

Stock #

R7320 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

146789985-146933523 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 146879551 bp (GRCm39)

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
Abcc3	A	G	11: 94,258,471 (GRCm39)	I458T	probably benign	Het
Adam29	A	G	8: 56,325,749 (GRCm39)	I235T	possibly damaging	Het
Afap1	G	A	5: 36,105,567 (GRCm39)	V174I	probably damaging	Het
Ak8	A	T	2: 28,703,004 (GRCm39)	D456V	probably damaging	Het
Alb	T	C	5: 90,612,846 (GRCm39)		probably null	Het
Alox12	C	T	11: 70,145,298 (GRCm39)	A92T	probably benign	Het
Arhgap23	T	C	11: 97,342,371 (GRCm39)	S218P	probably benign	Het
Blm	G	A	7: 80,105,102 (GRCm39)	Q1389*	probably null	Het
C1ql4	A	T	15: 98,985,605 (GRCm39)	V2E	unknown	Het
Casp12	A	G	9: 5,348,897 (GRCm39)		probably null	Het
Ccdc73	A	T	2: 104,829,521 (GRCm39)	I1065F	possibly damaging	Het
Ccdc83	C	T	7: 89,873,242 (GRCm39)	G371D	probably damaging	Het
Cfap65	A	G	1: 74,965,763 (GRCm39)	S416P	probably damaging	Het
Cftr	T	A	6: 18,319,012 (GRCm39)	C1351S	probably damaging	Het
Clcn4	A	T	7: 7,294,827 (GRCm39)	H311Q	probably benign	Het
Cldn13	T	G	5: 134,943,874 (GRCm39)	I104L	probably benign	Het
Cul9	A	G	17: 46,821,835 (GRCm39)	V1880A	possibly damaging	Het
Ddx17	A	T	15: 79,416,105 (GRCm39)	D407E	probably damaging	Het
Ddx28	G	A	8: 106,737,957 (GRCm39)	P34S	probably damaging	Het
Dnah5	A	T	15: 28,270,616 (GRCm39)	N973Y	probably null	Het
Dnai4	A	T	4: 102,907,384 (GRCm39)	I634N	possibly damaging	Het
Dock10	A	G	1: 80,527,421 (GRCm39)		probably null	Het
Dock3	T	C	9: 106,772,723 (GRCm39)	D510G	probably benign	Het
Dst	T	A	1: 34,230,175 (GRCm39)	D2589E	probably benign	Het
E2f7	T	C	10: 110,599,991 (GRCm39)	Y249H	not run	Het
Eef2kmt	T	C	16: 5,068,373 (GRCm39)	Y69C	possibly damaging	Het
Elapor1	T	A	3: 108,371,619 (GRCm39)	K650*	probably null	Het
Erlin1	T	C	19: 44,047,504 (GRCm39)	Y139C	probably damaging	Het
Exog	G	T	9: 119,291,544 (GRCm39)	V274L	possibly damaging	Het
Fam83e	G	A	7: 45,371,896 (GRCm39)	V98M	probably benign	Het
Fras1	C	T	5: 96,857,745 (GRCm39)	T2013I	probably benign	Het
Gart	G	T	16: 91,418,569 (GRCm39)	A970E	probably benign	Het
Gga2	T	A	7: 121,601,326 (GRCm39)	H259L	probably benign	Het
Glis3	C	A	19: 28,508,998 (GRCm39)	V329F	probably damaging	Het
Gm6356	T	A	14: 6,972,923 (GRCm38)	N53I	probably damaging	Het
Golgb1	C	A	16: 36,736,313 (GRCm39)	C1894*	probably null	Het
Ifi203	T	C	1: 173,756,733 (GRCm39)	N350S	unknown	Het
Isy1	T	A	6: 87,810,688 (GRCm39)	R55S	unknown	Het
Itsn1	A	T	16: 91,636,587 (GRCm39)	D678V	unknown	Het
Lhcgr	T	A	17: 89,049,506 (GRCm39)	R673S	probably benign	Het
Lnx2	C	A	5: 146,956,943 (GRCm39)	R601L	possibly damaging	Het
Map4	A	G	9: 109,910,585 (GRCm39)	T1093A	probably benign	Het
Minar1	A	G	9: 89,483,679 (GRCm39)	S573P	probably benign	Het
Mink1	A	G	11: 70,489,899 (GRCm39)	K92E	probably benign	Het
Moxd1	A	G	10: 24,177,363 (GRCm39)	I560V	probably benign	Het
Mrc2	C	A	11: 105,220,061 (GRCm39)	D327E	possibly damaging	Het
Notch2	A	G	3: 98,038,643 (GRCm39)	E1262G	possibly damaging	Het
Or2g1	T	A	17: 38,107,248 (GRCm39)	N304K	probably benign	Het
Or4k48	A	G	2: 111,476,297 (GRCm39)	L15S	probably benign	Het
Or52d3	C	A	7: 104,229,645 (GRCm39)	S264*	probably null	Het
Or5an1	G	A	19: 12,261,180 (GRCm39)	G256D	possibly damaging	Het
Or5b120	T	A	19: 13,480,544 (GRCm39)	M279K	possibly damaging	Het
Or5j3	GTACTTTTT	GT	2: 86,128,338 (GRCm39)		probably null	Het
Or5m13	A	T	2: 85,748,718 (GRCm39)	I150F	probably benign	Het
Or6c5b	A	T	10: 129,245,654 (GRCm39)	T140S	possibly damaging	Het
Pcbp2	T	A	15: 102,381,782 (GRCm39)	V5E	probably damaging	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Pgghg	A	T	7: 140,522,953 (GRCm39)	Y104F	probably benign	Het
Plscr2	T	C	9: 92,173,193 (GRCm39)		probably null	Het
Ptgfr	C	T	3: 151,541,034 (GRCm39)	G158D	probably benign	Het
Ptgs2	T	C	1: 149,978,446 (GRCm39)	F186S	probably damaging	Het
Ptpn14	A	G	1: 189,564,956 (GRCm39)	E181G	probably benign	Het
Rpgrip1	A	G	14: 52,368,673 (GRCm39)	K291E	possibly damaging	Het
Rtn4rl1	T	C	11: 75,085,122 (GRCm39)		probably null	Het
Sema3b	T	A	9: 107,478,141 (GRCm39)	M415L	probably benign	Het
Sh3bp4	A	G	1: 89,073,216 (GRCm39)	E688G	probably damaging	Het
Slco6c1	G	A	1: 97,055,887 (GRCm39)	R5C	possibly damaging	Het
Slmap	A	G	14: 26,181,227 (GRCm39)	F369L	possibly damaging	Het
Sphk2	T	C	7: 45,361,894 (GRCm39)	N181S	possibly damaging	Het
Sqor	A	G	2: 122,641,730 (GRCm39)	T235A	probably benign	Het
St13	A	G	15: 81,273,854 (GRCm39)	L80P	probably damaging	Het
St3gal6	A	G	16: 58,314,074 (GRCm39)	Y20H	probably benign	Het
Sun1	T	G	5: 139,234,239 (GRCm39)	Y899D	probably damaging	Het
Synm	C	T	7: 67,385,128 (GRCm39)	E845K	possibly damaging	Het
Tg	A	T	15: 66,566,633 (GRCm39)	D1227V	possibly damaging	Het
Thbs1	A	G	2: 117,945,438 (GRCm39)	N306D	possibly damaging	Het
Tmcc3	A	T	10: 94,414,357 (GRCm39)	N51Y	possibly damaging	Het
Usp4	A	G	9: 108,265,505 (GRCm39)	D856G	probably benign	Het
Vil1	G	A	1: 74,457,603 (GRCm39)	A79T	probably damaging	Het
Vmn1r119	T	A	7: 20,746,271 (GRCm39)	H37L	probably damaging	Het
Vmn2r110	A	T	17: 20,816,316 (GRCm39)	M69K	probably benign	Het
Ywhaq	A	G	12: 21,444,982 (GRCm39)	L221P	probably damaging	Het
Zfp142	G	A	1: 74,609,167 (GRCm39)	Q1543*	probably null	Het
Zfp384	T	A	6: 125,001,793 (GRCm39)	M146K	possibly damaging	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
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
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'- GGCCTTTTCATTAAGCATCAAACC -3'
(R):5'- CACTTCTGCTGTTGAATCTGG -3'

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

Posted On

2019-06-26