Mutagenetix > Incidental Mutation

Incidental Mutation 'R7051:Ppfibp2'

547586

Institutional Source

Beutler Lab

Gene Symbol

Ppfibp2

Ensembl Gene

ENSMUSG00000036528

Gene Name

PTPRF interacting protein, binding protein 2 (liprin beta 2)

Synonyms

liprin beta 2, Cclp1

MMRRC Submission

045148-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7051 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107194414-107347790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107316925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 300 (E300G)

Ref Sequence

ENSEMBL: ENSMUSP00000095738 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040056] [ENSMUST00000098134]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000040056
AA Change: E300G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000042574
Gene: ENSMUSG00000036528
AA Change: E300G

Domain	Start	End	E-Value	Type
Pfam:Integrase_DNA	192	256	3.4e-24	PFAM
low complexity region	357	374	N/A	INTRINSIC
SAM	561	628	1.86e-12	SMART
SAM	633	699	4.07e-9	SMART
SAM	721	793	9.22e-8	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000098134
AA Change: E300G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095738
Gene: ENSMUSG00000036528
AA Change: E300G

Domain	Start	End	E-Value	Type
PDB:3QH9\|A	185	265	2e-26	PDB
low complexity region	357	374	N/A	INTRINSIC
SAM	550	617	1.86e-12	SMART
SAM	622	688	4.07e-9	SMART
SAM	710	782	9.22e-8	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

95% (80/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. The encoded protein is a beta liprin and plays a role in axon guidance and neuronal synapse development by recruiting LAR protein-tyrosine phosphatases to the plasma membrane. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5930422O12Rik	C	T	8: 33,919,201 (GRCm39)	S7L	unknown	Het
Aggf1	T	C	13: 95,488,125 (GRCm39)	K674R	possibly damaging	Het
Ampd1	T	C	3: 102,997,389 (GRCm39)	F264L	probably damaging	Het
Ankle1	A	T	8: 71,860,387 (GRCm39)	S302C	probably damaging	Het
Ankrd17	G	A	5: 90,514,310 (GRCm39)		probably benign	Het
Arhgap18	T	A	10: 26,725,917 (GRCm39)	N47K	possibly damaging	Het
Atp5pb	T	C	3: 105,851,083 (GRCm39)	N205D	probably benign	Het
Atp8b3	C	T	10: 80,355,858 (GRCm39)	E1285K	probably benign	Het
Atp8b3	C	A	10: 80,365,552 (GRCm39)	V401L	probably damaging	Het
Cacna1a	G	A	8: 85,356,544 (GRCm39)	R1929Q	possibly damaging	Het
Cadm2	C	T	16: 66,679,767 (GRCm39)	S22N	possibly damaging	Het
Ccdc177	C	T	12: 80,805,927 (GRCm39)	V116M	probably damaging	Het
Cdhr18	A	G	14: 13,828,486 (GRCm38)	V758A		Het
Cdkl2	A	T	5: 92,181,084 (GRCm39)	I185N	probably damaging	Het
Cfhr2	T	A	1: 139,738,716 (GRCm39)	I282L	probably benign	Het
Clns1a	T	A	7: 97,361,824 (GRCm39)		probably null	Het
Commd2	A	T	3: 57,554,107 (GRCm39)	I198N	probably damaging	Het
Creb3l2	C	T	6: 37,313,200 (GRCm39)	V365I	possibly damaging	Het
Dcaf6	A	T	1: 165,251,886 (GRCm39)	N79K	possibly damaging	Het
Dlg5	T	C	14: 24,196,263 (GRCm39)	N1622D	possibly damaging	Het
Dock7	C	T	4: 98,834,969 (GRCm39)	R1802H	probably damaging	Het
Dpy19l2	T	C	9: 24,495,789 (GRCm39)	K643R	probably benign	Het
Dscam	G	A	16: 96,620,986 (GRCm39)	T574M	probably benign	Het
Fam209	A	G	2: 172,315,969 (GRCm39)	T115A	probably damaging	Het
Fastkd5	C	T	2: 130,456,337 (GRCm39)	C751Y	probably damaging	Het
Fat3	C	A	9: 16,289,123 (GRCm39)	L133F	probably damaging	Het
Fcsk	A	T	8: 111,616,971 (GRCm39)	I393N	probably damaging	Het
Frmd6	T	C	12: 70,944,170 (GRCm39)	V516A	possibly damaging	Het
Fry	G	A	5: 150,318,634 (GRCm39)	D955N	possibly damaging	Het
Gm7298	T	C	6: 121,751,993 (GRCm39)		probably null	Het
Golga7b	T	A	19: 42,256,899 (GRCm39)	*168R	probably null	Het
Golim4	T	A	3: 75,800,309 (GRCm39)	Q395L	probably benign	Het
Gxylt2	T	A	6: 100,781,537 (GRCm39)	L404*	probably null	Het
H1f4	A	G	13: 23,806,422 (GRCm39)	V20A	probably benign	Het
Ighmbp2	G	T	19: 3,311,462 (GRCm39)	S984R	probably damaging	Het
Irf8	C	T	8: 121,466,581 (GRCm39)	R9W	probably damaging	Het
Itga4	T	C	2: 79,148,470 (GRCm39)	V788A	possibly damaging	Het
Kifap3	G	A	1: 163,621,649 (GRCm39)	R99H	probably damaging	Het
Kiss1r	T	C	10: 79,754,688 (GRCm39)	S61P	probably damaging	Het
Krtap6-1	A	T	16: 88,828,606 (GRCm39)	M1L	unknown	Het
Large2	A	T	2: 92,197,367 (GRCm39)	M411K	probably damaging	Het
Lcor	A	G	19: 41,574,191 (GRCm39)	D982G	probably benign	Het
Lingo1	A	G	9: 56,527,467 (GRCm39)	V374A	probably benign	Het
Lrch1	A	G	14: 75,022,962 (GRCm39)	V637A	probably damaging	Het
Lyar	T	C	5: 38,382,024 (GRCm39)	V2A	probably damaging	Het
Nell1	C	T	7: 50,098,592 (GRCm39)	S298L	unknown	Het
Ogfod3	T	A	11: 121,086,031 (GRCm39)	I188F	probably damaging	Het
Opa3	C	A	7: 18,978,961 (GRCm39)	A142E	possibly damaging	Het
Or5b123	T	A	19: 13,596,769 (GRCm39)	M81K	possibly damaging	Het
Or5k1	T	C	16: 58,617,538 (GRCm39)	T224A	probably benign	Het
Pald1	T	C	10: 61,159,125 (GRCm39)	R769G	probably benign	Het
Pappa2	T	A	1: 158,784,753 (GRCm39)	T86S	unknown	Het
Papss1	T	C	3: 131,307,811 (GRCm39)	Y266H	probably damaging	Het
Pcdhga7	C	A	18: 37,849,994 (GRCm39)	A667D	probably damaging	Het
Pcsk5	T	A	19: 17,411,095 (GRCm39)	T1766S	probably benign	Het
Pds5b	T	A	5: 150,717,747 (GRCm39)	N1129K	possibly damaging	Het
Pop7	T	C	5: 137,499,952 (GRCm39)	N127S	probably damaging	Het
Ppp4r3b	A	G	11: 29,132,507 (GRCm39)	K87E	probably damaging	Het
Psmd3	T	A	11: 98,573,659 (GRCm39)	M35K	possibly damaging	Het
Pus7	A	G	5: 23,980,677 (GRCm39)	V191A	probably damaging	Het
Rptor	C	T	11: 119,765,012 (GRCm39)		probably benign	Het
Sacs	A	G	14: 61,446,377 (GRCm39)	M2808V	probably benign	Het
Scube3	G	A	17: 28,386,573 (GRCm39)	V831I	probably benign	Het
Sin3a	A	T	9: 57,011,218 (GRCm39)	N492Y	probably damaging	Het
Slc12a3	A	G	8: 95,092,572 (GRCm39)	T998A	probably damaging	Het
Slc4a1	T	C	11: 102,247,084 (GRCm39)	N501S	probably benign	Het
Sltm	G	A	9: 70,466,348 (GRCm39)	G94R	probably damaging	Het
Smc4	T	A	3: 68,934,835 (GRCm39)	W650R	probably damaging	Het
Smg7	A	G	1: 152,724,601 (GRCm39)	S527P	probably damaging	Het
Tcf20	T	C	15: 82,740,279 (GRCm39)	N391D	probably damaging	Het
Tiam2	G	A	17: 3,498,758 (GRCm39)	V845M	probably damaging	Het
Tln2	A	G	9: 67,253,699 (GRCm39)	F793L	probably benign	Het
Uckl1	T	C	2: 181,216,037 (GRCm39)	I193V	probably damaging	Het
Ugt1a5	A	G	1: 88,094,077 (GRCm39)	M102V	probably benign	Het
Usp38	G	A	8: 81,727,750 (GRCm39)	P328S	possibly damaging	Het
Vmn1r189	A	G	13: 22,286,285 (GRCm39)	V184A	possibly damaging	Het
Vps13d	C	A	4: 144,889,914 (GRCm39)	A597S	probably benign	Het
Wdr47	T	A	3: 108,525,840 (GRCm39)	L121Q	probably damaging	Het
Wiz	A	G	17: 32,580,507 (GRCm39)	S315P	probably damaging	Het
Zc3h13	T	C	14: 75,568,597 (GRCm39)	S1297P	probably damaging	Het
Zfp27	AATCCGCTTGTGCA	AA	7: 29,594,446 (GRCm39)		probably benign	Het

Other mutations in Ppfibp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00426:Ppfibp2	APN	7	107,308,012 (GRCm39)	missense	probably damaging	1.00
IGL00429:Ppfibp2	APN	7	107,296,801 (GRCm39)	missense	probably benign	0.18
IGL00785:Ppfibp2	APN	7	107,337,094 (GRCm39)	missense	probably benign
IGL00821:Ppfibp2	APN	7	107,329,083 (GRCm39)	missense	probably damaging	1.00
IGL01295:Ppfibp2	APN	7	107,346,746 (GRCm39)	unclassified	probably benign
IGL01361:Ppfibp2	APN	7	107,343,508 (GRCm39)	splice site	probably null
IGL02115:Ppfibp2	APN	7	107,338,525 (GRCm39)	unclassified	probably benign
IGL02323:Ppfibp2	APN	7	107,337,836 (GRCm39)	missense	probably damaging	1.00
IGL02458:Ppfibp2	APN	7	107,342,171 (GRCm39)	missense	probably damaging	1.00
IGL02731:Ppfibp2	APN	7	107,345,629 (GRCm39)	missense	possibly damaging	0.92
IGL03343:Ppfibp2	APN	7	107,337,126 (GRCm39)	nonsense	probably null
R0142:Ppfibp2	UTSW	7	107,343,384 (GRCm39)	missense	probably damaging	1.00
R0555:Ppfibp2	UTSW	7	107,328,381 (GRCm39)	missense	probably damaging	1.00
R0630:Ppfibp2	UTSW	7	107,337,806 (GRCm39)	critical splice acceptor site	probably null
R1374:Ppfibp2	UTSW	7	107,285,195 (GRCm39)	splice site	probably benign
R1668:Ppfibp2	UTSW	7	107,329,099 (GRCm39)	missense	probably damaging	1.00
R1731:Ppfibp2	UTSW	7	107,339,796 (GRCm39)	missense	probably damaging	1.00
R1830:Ppfibp2	UTSW	7	107,236,504 (GRCm39)	missense	probably damaging	1.00
R1902:Ppfibp2	UTSW	7	107,345,585 (GRCm39)	missense	probably damaging	1.00
R2061:Ppfibp2	UTSW	7	107,338,437 (GRCm39)	missense	probably damaging	1.00
R2929:Ppfibp2	UTSW	7	107,296,858 (GRCm39)	missense	probably damaging	0.99
R3777:Ppfibp2	UTSW	7	107,328,396 (GRCm39)	missense	probably benign	0.00
R3778:Ppfibp2	UTSW	7	107,328,396 (GRCm39)	missense	probably benign	0.00
R4839:Ppfibp2	UTSW	7	107,342,192 (GRCm39)	missense	probably damaging	1.00
R4879:Ppfibp2	UTSW	7	107,328,390 (GRCm39)	missense	probably benign	0.01
R5643:Ppfibp2	UTSW	7	107,337,097 (GRCm39)	missense	probably damaging	1.00
R5773:Ppfibp2	UTSW	7	107,285,079 (GRCm39)	missense	possibly damaging	0.74
R6255:Ppfibp2	UTSW	7	107,280,969 (GRCm39)	missense	probably damaging	0.96
R6356:Ppfibp2	UTSW	7	107,280,976 (GRCm39)	missense	probably benign	0.01
R6843:Ppfibp2	UTSW	7	107,326,938 (GRCm39)	missense	probably benign	0.00
R6889:Ppfibp2	UTSW	7	107,337,188 (GRCm39)	missense	possibly damaging	0.94
R7194:Ppfibp2	UTSW	7	107,322,187 (GRCm39)	critical splice donor site	probably null
R7654:Ppfibp2	UTSW	7	107,337,818 (GRCm39)	missense	probably damaging	0.99
R7678:Ppfibp2	UTSW	7	107,315,873 (GRCm39)	missense	probably damaging	0.98
R7895:Ppfibp2	UTSW	7	107,320,524 (GRCm39)	splice site	probably null
R8385:Ppfibp2	UTSW	7	107,296,894 (GRCm39)	missense	probably benign	0.44
R8434:Ppfibp2	UTSW	7	107,327,957 (GRCm39)	critical splice donor site	probably null
R8691:Ppfibp2	UTSW	7	107,346,785 (GRCm39)	missense	probably damaging	0.99
R8695:Ppfibp2	UTSW	7	107,285,063 (GRCm39)	splice site	probably benign
R8700:Ppfibp2	UTSW	7	107,345,602 (GRCm39)	missense	possibly damaging	0.94
R8755:Ppfibp2	UTSW	7	107,343,432 (GRCm39)	missense	probably damaging	1.00
R9172:Ppfibp2	UTSW	7	107,337,525 (GRCm39)	nonsense	probably null
R9182:Ppfibp2	UTSW	7	107,308,053 (GRCm39)	missense	possibly damaging	0.72
R9355:Ppfibp2	UTSW	7	107,322,169 (GRCm39)	missense	probably benign	0.00
R9545:Ppfibp2	UTSW	7	107,337,504 (GRCm39)	missense	probably damaging	1.00
R9688:Ppfibp2	UTSW	7	107,318,448 (GRCm39)	missense	probably benign	0.02
RF022:Ppfibp2	UTSW	7	107,296,817 (GRCm39)	missense	probably damaging	1.00
Z1177:Ppfibp2	UTSW	7	107,342,257 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- CATAAGGGTCATAGGCTGCCTG -3'
(R):5'- ATCATCATCTGCACCTTCCAAG -3'

Sequencing Primer
(F):5'- CATAGGCTGCCTGTGAGG -3'
(R):5'- GCACCTTCCAAGAGTCTATATATGG -3'

Posted On

2019-05-13