Mutagenetix > Incidental Mutation

Incidental Mutation 'R0699:Ppfibp1'

62958

Institutional Source

Beutler Lab

Gene Symbol

Ppfibp1

Ensembl Gene

ENSMUSG00000016487

Gene Name

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

Synonyms

MMRRC Submission

038883-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.826) question?

Stock #

R0699 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

146789985-146933523 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 146927720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 778 (V778E)

Ref Sequence

ENSEMBL: ENSMUSP00000016631 (fasta)

Gene Model

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

AlphaFold

Q8C8U0

PDB Structure

Crystal Structure of the Liprin-alpha/Liprin-beta complex [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000016631
AA Change: V778E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000016631
Gene: ENSMUSG00000016487
AA Change: V778E

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: V789E

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107250
Gene: ENSMUSG00000016487
AA Change: V789E

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

0.8788

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.8%

Validation Efficiency

98% (120/123)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,538,508 (GRCm39)		probably benign	Het
Abcb6	C	T	1: 75,148,553 (GRCm39)	E89K	probably damaging	Het
Adam25	C	A	8: 41,209,011 (GRCm39)	T759K	probably benign	Het
Adgrf5	G	A	17: 43,733,552 (GRCm39)		probably null	Het
Aimp1	A	T	3: 132,380,626 (GRCm39)		probably benign	Het
Aldh3a2	C	T	11: 61,153,148 (GRCm39)	V193I	probably benign	Het
Ank2	C	T	3: 126,723,478 (GRCm39)	V950I	probably benign	Het
Aspn	A	G	13: 49,705,258 (GRCm39)	D40G	possibly damaging	Het
C1rl	A	G	6: 124,485,595 (GRCm39)	D322G	probably benign	Het
Car5a	T	C	8: 122,671,555 (GRCm39)		probably benign	Het
Cfap107	G	T	4: 144,146,322 (GRCm39)	N110K	probably damaging	Het
Cfap157	T	A	2: 32,669,022 (GRCm39)	K360N	probably damaging	Het
Cilp	T	A	9: 65,177,608 (GRCm39)	F117Y	probably damaging	Het
Cntnap5c	T	G	17: 58,349,493 (GRCm39)	W269G	probably damaging	Het
Col6a1	A	G	10: 76,552,114 (GRCm39)	V459A	unknown	Het
Commd3	A	G	2: 18,679,786 (GRCm39)	E165G	possibly damaging	Het
Cops3	A	C	11: 59,717,148 (GRCm39)	Y244D	probably damaging	Het
Cpne5	T	A	17: 29,428,667 (GRCm39)	K108N	probably damaging	Het
Cracdl	T	C	1: 37,651,411 (GRCm39)	D1152G	possibly damaging	Het
Ddx41	A	G	13: 55,679,112 (GRCm39)		probably benign	Het
Dnhd1	T	C	7: 105,301,113 (GRCm39)	Y157H	probably damaging	Het
Dpp8	A	T	9: 64,962,176 (GRCm39)	L405F	probably benign	Het
Dync2h1	G	T	9: 7,103,680 (GRCm39)	A365E	probably benign	Het
Dysf	C	T	6: 84,167,828 (GRCm39)	R1757W	probably benign	Het
Eif1ad	T	A	19: 5,418,726 (GRCm39)	V93D	possibly damaging	Het
Eif2ak3	T	C	6: 70,869,514 (GRCm39)	F734L	probably benign	Het
F8	T	C	X: 74,423,230 (GRCm39)		probably benign	Het
Fbxl14	T	C	6: 119,457,715 (GRCm39)	Y299H	probably benign	Het
Fmo1	T	C	1: 162,661,341 (GRCm39)	N314S	probably benign	Het
Fnip2	T	C	3: 79,388,446 (GRCm39)	T762A	probably benign	Het
Gfra1	A	C	19: 58,258,555 (GRCm39)	S271A	probably benign	Het
Gm9932	T	C	5: 100,346,931 (GRCm39)	V43A	probably damaging	Het
Herc6	T	C	6: 57,558,092 (GRCm39)	L24P	probably damaging	Het
Hmcn1	T	C	1: 150,695,161 (GRCm39)	T248A	probably damaging	Het
Hook1	T	A	4: 95,884,077 (GRCm39)		probably benign	Het
Ifne	T	C	4: 88,798,014 (GRCm39)	S135G	probably benign	Het
Igkv13-84	G	A	6: 68,916,635 (GRCm39)		probably benign	Het
Itm2b	T	A	14: 73,602,065 (GRCm39)	N211I	probably damaging	Het
Kcnh5	A	T	12: 75,023,305 (GRCm39)	C588S	possibly damaging	Het
Kif13a	A	T	13: 46,952,689 (GRCm39)	W699R	possibly damaging	Het
Kmt2e	T	C	5: 23,678,581 (GRCm39)	V220A	probably benign	Het
Macrod2	T	C	2: 140,260,836 (GRCm39)		probably null	Het
Map3k6	A	G	4: 132,975,437 (GRCm39)	E724G	probably damaging	Het
Mgam	T	C	6: 40,619,953 (GRCm39)	L14P	possibly damaging	Het
Morc1	T	A	16: 48,412,977 (GRCm39)	M706K	probably benign	Het
Muc2	T	C	7: 141,306,037 (GRCm39)	V242A	probably damaging	Het
Mx2	T	A	16: 97,345,753 (GRCm39)	V57E	probably damaging	Het
Myh14	C	A	7: 44,274,395 (GRCm39)	A1339S	possibly damaging	Het
Myom1	G	T	17: 71,374,308 (GRCm39)	S595I	probably damaging	Het
Nav1	T	A	1: 135,380,687 (GRCm39)	M1471L	probably benign	Het
Ncapd2	A	C	6: 125,146,843 (GRCm39)	S1248A	probably benign	Het
Ncbp1	T	C	4: 46,147,528 (GRCm39)	V125A	probably benign	Het
Ncor2	A	T	5: 125,106,176 (GRCm39)		probably benign	Het
Nobox	T	A	6: 43,284,144 (GRCm39)	Q134L	probably benign	Het
Npc1	T	C	18: 12,343,632 (GRCm39)	T454A	probably benign	Het
Ntng1	G	T	3: 109,779,611 (GRCm39)	T322K	probably damaging	Het
Olfm5	T	C	7: 103,803,326 (GRCm39)	E379G	probably damaging	Het
Oma1	T	C	4: 103,210,792 (GRCm39)	S433P	probably damaging	Het
Or1ad6	T	C	11: 50,860,645 (GRCm39)	S267P	probably damaging	Het
Or1b1	T	C	2: 36,995,074 (GRCm39)	D196G	possibly damaging	Het
Or4c105	A	T	2: 88,647,568 (GRCm39)	N18Y	probably damaging	Het
Or4c107	C	T	2: 88,788,960 (GRCm39)	T50I	probably benign	Het
Or4c113	C	T	2: 88,885,636 (GRCm39)	V45M	possibly damaging	Het
Parp14	G	A	16: 35,680,955 (GRCm39)	T226M	probably damaging	Het
Parp8	A	T	13: 117,059,120 (GRCm39)	H168Q	probably benign	Het
Pik3cg	G	A	12: 32,247,341 (GRCm39)		probably benign	Het
Pla2g3	T	C	11: 3,442,000 (GRCm39)	F388S	probably damaging	Het
Plaat3	T	A	19: 7,535,366 (GRCm39)		probably null	Het
Pllp	T	C	8: 95,422,660 (GRCm39)		probably null	Het
Prkci	T	C	3: 31,104,422 (GRCm39)	V595A	possibly damaging	Het
Prune2	T	A	19: 17,101,319 (GRCm39)	D2274E	probably damaging	Het
Rad51ap2	A	T	12: 11,507,601 (GRCm39)	T508S	probably benign	Het
Ranbp3l	T	C	15: 9,058,850 (GRCm39)		probably null	Het
Rfc1	A	C	5: 65,476,742 (GRCm39)		probably null	Het
Rin3	G	A	12: 102,335,834 (GRCm39)	V502I	probably damaging	Het
Rtn4rl1	A	T	11: 75,156,048 (GRCm39)	H160L	possibly damaging	Het
Rtn4rl1	A	T	11: 75,156,050 (GRCm39)	I161F	probably benign	Het
Serpinb9b	A	T	13: 33,217,549 (GRCm39)	M116L	probably benign	Het
Sgo2a	C	T	1: 58,037,308 (GRCm39)	R18*	probably null	Het
Sh3gl2	T	A	4: 85,265,408 (GRCm39)	D31E	probably benign	Het
Slc38a9	T	C	13: 112,859,823 (GRCm39)	L419S	probably damaging	Het
Sp8	AGCGGCGGCGGCGGCGG	AGCGGCGGCGGCGG	12: 118,812,555 (GRCm39)		probably benign	Het
Spen	G	T	4: 141,201,702 (GRCm39)	N2308K	possibly damaging	Het
Stac2	A	G	11: 97,933,611 (GRCm39)	I156T	possibly damaging	Het
Stambp	A	G	6: 83,533,303 (GRCm39)	F320S	probably damaging	Het
Tas2r117	A	T	6: 132,780,161 (GRCm39)	N100Y	probably damaging	Het
Tigd3	A	T	19: 5,941,974 (GRCm39)	S385R	probably benign	Het
Tmem30c	T	C	16: 57,097,152 (GRCm39)	D136G	possibly damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tnrc6c	A	G	11: 117,613,447 (GRCm39)	Q535R	probably benign	Het
Trmt2a	T	C	16: 18,067,393 (GRCm39)	V22A	probably benign	Het
Tut7	G	A	13: 59,929,828 (GRCm39)		probably benign	Het
Wipf3	A	C	6: 54,460,817 (GRCm39)	K88N	probably damaging	Het
Zfp974	T	C	7: 27,611,416 (GRCm39)	E103G	possibly damaging	Het
Zscan10	C	T	17: 23,827,092 (GRCm39)	T135I	probably 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
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
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'- GAACACTTCACAGGACACCGGATAG -3'
(R):5'- CCTTTGCTGCAATGCTTGGAACC -3'

Sequencing Primer
(F):5'- TGCAGGTTCAGTATCAAGGG -3'
(R):5'- GACTTGATGCAATTCTTCTAGCAC -3'

Posted On

2013-07-30