Mutagenetix > Incidental Mutation

Incidental Mutation 'R4974:Ppfibp1'

382484

Institutional Source

Beutler Lab

Gene Symbol

Ppfibp1

Ensembl Gene

ENSMUSG00000016487

Gene Name

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

Synonyms

MMRRC Submission

042569-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.808) question?

Stock #

R4974 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

146789985-146933523 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to A at 146931917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107250 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016631] [ENSMUST00000036194] [ENSMUST00000111623]

AlphaFold

Q8C8U0

Predicted Effect

probably benign
Transcript: ENSMUST00000016631

SMART Domains

Protein: ENSMUSP00000016631
Gene: ENSMUSG00000016487

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: ENSMUST00000036194

SMART Domains

Protein: ENSMUSP00000037503
Gene: ENSMUSG00000040121

Domain	Start	End	E-Value	Type
Pfam:Rab15_effector	1	230	3.2e-119	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111623

SMART Domains

Protein: ENSMUSP00000107250
Gene: ENSMUSG00000016487

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: ENSMUST00000205044

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.2%

Validation Efficiency

97% (94/97)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730061H03Rik	C	T	14: 55,797,574 (GRCm39)		probably benign	Het
Acsf2	A	C	11: 94,460,155 (GRCm39)	M399R	possibly damaging	Het
Adra2c	C	A	5: 35,438,268 (GRCm39)	R347S	probably benign	Het
Akap9	A	G	5: 4,011,466 (GRCm39)	K723R	possibly damaging	Het
Anxa9	A	C	3: 95,215,324 (GRCm39)		probably benign	Het
Aqr	T	C	2: 113,943,832 (GRCm39)	H1102R	probably damaging	Het
Armh3	A	T	19: 45,808,726 (GRCm39)	F655Y	probably damaging	Het
Arrdc2	A	G	8: 71,290,162 (GRCm39)	V173A	probably benign	Het
Aspm	T	C	1: 139,405,748 (GRCm39)	V1545A	probably benign	Het
Bbs5	C	T	2: 69,477,578 (GRCm39)		probably benign	Het
Bnip2	A	G	9: 69,910,716 (GRCm39)	T255A	possibly damaging	Het
Cacna1b	T	C	2: 24,538,535 (GRCm39)	T1531A	probably damaging	Het
Cast	T	C	13: 74,955,942 (GRCm39)	K9R	probably benign	Het
Cfap46	A	T	7: 139,187,104 (GRCm39)		probably null	Het
Cfap57	G	T	4: 118,450,251 (GRCm39)	L624M	probably damaging	Het
Cyp2c39	A	T	19: 39,552,323 (GRCm39)	M339L	probably benign	Het
Dcst1	T	A	3: 89,265,110 (GRCm39)	T247S	probably benign	Het
Dnajc18	T	A	18: 35,816,372 (GRCm39)	I189F	possibly damaging	Het
Eef2kmt	T	C	16: 5,066,876 (GRCm39)	T126A	probably benign	Het
Epha2	A	G	4: 141,049,016 (GRCm39)	E624G	probably damaging	Het
Erbb3	G	A	10: 128,408,317 (GRCm39)	H866Y	probably benign	Het
F13a1	C	T	13: 37,100,837 (GRCm39)		probably null	Het
Fgd3	T	A	13: 49,432,078 (GRCm39)	N392I	probably damaging	Het
Fgf7	A	T	2: 125,930,160 (GRCm39)	M98L	probably benign	Het
G2e3	T	A	12: 51,415,922 (GRCm39)	S553T	probably benign	Het
Glipr1	C	A	10: 111,829,411 (GRCm39)	E117*	probably null	Het
Gm11060	A	T	2: 104,924,128 (GRCm39)		probably benign	Het
Gm4787	A	G	12: 81,424,403 (GRCm39)	I585T	probably damaging	Het
Gm6055	A	T	14: 48,316,915 (GRCm39)		noncoding transcript	Het
Gpbar1	TACCAC	TAC	1: 74,318,704 (GRCm39)		probably benign	Het
Gpt2	T	A	8: 86,246,068 (GRCm39)		probably benign	Het
Gtf2ird1	A	T	5: 134,386,685 (GRCm39)	Y345*	probably null	Het
Hmcn1	T	A	1: 150,695,200 (GRCm39)	T235S	probably benign	Het
Igkv5-48	A	G	6: 69,703,738 (GRCm39)	Y56H	possibly damaging	Het
Il17re	C	T	6: 113,446,530 (GRCm39)	T427I	probably benign	Het
Itpr3	A	T	17: 27,302,582 (GRCm39)	D80V	probably damaging	Het
Kif21a	G	T	15: 90,833,213 (GRCm39)	H1317N	probably benign	Het
Kif28	T	C	1: 179,526,209 (GRCm39)	K144E	probably damaging	Het
Kif4-ps	A	C	12: 101,113,330 (GRCm39)		noncoding transcript	Het
Klk1b11	C	T	7: 43,427,160 (GRCm39)	T148I	probably damaging	Het
Klkb1	T	A	8: 45,739,995 (GRCm39)	H99L	probably damaging	Het
Kpna6	A	C	4: 129,550,198 (GRCm39)		probably null	Het
Lama3	G	T	18: 12,685,883 (GRCm39)	K1132N	probably damaging	Het
Lcp1	T	A	14: 75,445,911 (GRCm39)	L264*	probably null	Het
Map2	T	C	1: 66,452,664 (GRCm39)	V360A	probably benign	Het
Med13	A	T	11: 86,189,673 (GRCm39)	S1079T	probably damaging	Het
Mettl13	A	G	1: 162,364,789 (GRCm39)	M162T	probably damaging	Het
Mppe1	T	G	18: 67,361,133 (GRCm39)	E208A	probably benign	Het
Msantd2	A	C	9: 37,400,675 (GRCm39)	K19T	possibly damaging	Het
Mylk3	A	G	8: 86,091,412 (GRCm39)	V131A	probably damaging	Het
Myocd	A	T	11: 65,074,299 (GRCm39)	S609T	possibly damaging	Het
Ncbp3	G	A	11: 72,944,355 (GRCm39)		probably null	Het
Neb	T	A	2: 52,136,871 (GRCm39)	L3203F	probably damaging	Het
Notch2	C	A	3: 98,046,949 (GRCm39)	T1756K	probably benign	Het
Nphp4	A	T	4: 152,622,250 (GRCm39)	R544W	probably damaging	Het
Or3a1c	A	T	11: 74,046,745 (GRCm39)	Y255F	probably benign	Het
Or4p18	T	G	2: 88,232,756 (GRCm39)	H174P	probably damaging	Het
Or5c1	A	T	2: 37,222,578 (GRCm39)	D273V	probably damaging	Het
Parp4	T	A	14: 56,827,355 (GRCm39)	V163E	possibly damaging	Het
Pcdhgb1	C	A	18: 37,815,425 (GRCm39)	Q639K	probably benign	Het
Pcnx2	A	G	8: 126,577,869 (GRCm39)	V936A	probably benign	Het
Pcsk7	T	A	9: 45,830,160 (GRCm39)	M418K	probably damaging	Het
Pglyrp4	T	C	3: 90,640,314 (GRCm39)	I188T	probably benign	Het
Pgs1	A	G	11: 117,896,345 (GRCm39)	R339G	probably benign	Het
Pik3r3	A	G	4: 116,143,388 (GRCm39)	I294V	probably benign	Het
Pik3r6	A	G	11: 68,430,771 (GRCm39)	D520G	probably damaging	Het
Pkdrej	A	G	15: 85,704,610 (GRCm39)	V442A	probably benign	Het
Ppp3ca	C	A	3: 136,640,810 (GRCm39)	Q454K	possibly damaging	Het
Ppp5c	A	T	7: 16,743,861 (GRCm39)	M191K	probably damaging	Het
Prl4a1	A	T	13: 28,207,308 (GRCm39)	Y194F	possibly damaging	Het
Ptpn21	G	T	12: 98,646,362 (GRCm39)	T1032K	probably damaging	Het
Ptprh	A	T	7: 4,554,006 (GRCm39)		probably null	Het
Ptprm	T	A	17: 66,985,062 (GRCm39)	R1447S	probably benign	Het
Pxk	T	A	14: 8,140,734 (GRCm38)	D236E	probably damaging	Het
Qars1	T	C	9: 108,386,130 (GRCm39)	F107S	probably damaging	Het
Rbbp6	A	G	7: 122,599,031 (GRCm39)		probably benign	Het
Rptor	A	T	11: 119,712,466 (GRCm39)		probably benign	Het
Rtn4	T	A	11: 29,690,994 (GRCm39)	M1095K	probably damaging	Het
Serpinb3b	T	A	1: 107,082,445 (GRCm39)	H273L	probably benign	Het
Sgce	G	A	6: 4,689,630 (GRCm39)	T401M	probably benign	Het
Slc12a6	C	T	2: 112,188,870 (GRCm39)	R1083W	probably damaging	Het
Slc45a4	A	T	15: 73,456,299 (GRCm39)	M635K	probably damaging	Het
Slc6a1	T	A	6: 114,284,662 (GRCm39)	V240D	probably damaging	Het
Snx9	G	A	17: 5,952,794 (GRCm39)		probably null	Het
Spred3	A	G	7: 28,867,249 (GRCm39)	V49A	probably damaging	Het
Tars1	A	G	15: 11,390,477 (GRCm39)	F334S	probably damaging	Het
Tdpoz1	A	G	3: 93,578,454 (GRCm39)	V110A	probably benign	Het
Tfrc	T	G	16: 32,437,097 (GRCm39)	V252G	probably damaging	Het
Tm6sf2	T	C	8: 70,528,128 (GRCm39)		probably benign	Het
Txlnb	T	C	10: 17,714,717 (GRCm39)	V383A	probably damaging	Het
Utp20	C	A	10: 88,652,811 (GRCm39)	V368L	probably benign	Het
Vmn2r12	A	T	5: 109,239,372 (GRCm39)	V397E	probably damaging	Het
Zdhhc12	G	A	2: 29,981,538 (GRCm39)	R175W	probably damaging	Het
Zfyve9	A	G	4: 108,538,097 (GRCm39)		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
R4860:Ppfibp1	UTSW	6	146,892,012 (GRCm39)	missense	probably benign	0.01
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'- CCTTGCATGTTGGAGGCATG -3'
(R):5'- CTGGTAAACACCCAATCGTAAATG -3'

Sequencing Primer
(F):5'- ATGTGCTAAGCTCGGGACTC -3'
(R):5'- AGCAAGCGCACTTCCGTTC -3'

Posted On

2016-04-27