Mutagenetix > Incidental Mutation

Incidental Mutation 'R9182:Ppfibp2'

697100

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9182 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107194414-107347790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107308053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 229 (Y229N)

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: Y229N

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

SMART Domains

Protein: ENSMUSP00000042574
Gene: ENSMUSG00000036528
AA Change: Y229N

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

possibly damaging
Transcript: ENSMUST00000098134
AA Change: Y229N

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000095738
Gene: ENSMUSG00000036528
AA Change: Y229N

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: 99.5%

Validation Efficiency

100% (99/99)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	T	5: 113,243,473 (GRCm39)	M190K	probably damaging	Het
4931406B18Rik	A	G	7: 43,153,640 (GRCm39)	W3R	probably damaging	Het
Acap3	T	C	4: 155,989,892 (GRCm39)	L720P	probably damaging	Het
Actc1	T	C	2: 113,882,494 (GRCm39)	T7A	probably benign	Het
Angpt2	T	A	8: 18,760,658 (GRCm39)		probably null	Het
Babam2	T	A	5: 32,058,401 (GRCm39)	D228E	possibly damaging	Het
Ccar1	G	A	10: 62,621,347 (GRCm39)	L34F	probably damaging	Het
Ccdc83	T	C	7: 89,886,102 (GRCm39)	D219G	probably damaging	Het
Cct2	A	G	10: 116,892,025 (GRCm39)	V341A	probably benign	Het
Cdc20b	G	A	13: 113,208,503 (GRCm39)		probably null	Het
Chd7	T	A	4: 8,838,737 (GRCm39)	L1312Q	probably damaging	Het
Cltc	G	A	11: 86,595,982 (GRCm39)	T1252I	probably damaging	Het
Cnpy1	G	T	5: 28,450,799 (GRCm39)	D2E	possibly damaging	Het
Crat	C	T	2: 30,298,085 (GRCm39)	V205M	probably damaging	Het
Cspg4b	A	G	13: 113,457,358 (GRCm39)	N1135D		Het
Dgkb	T	C	12: 38,216,776 (GRCm39)		probably null	Het
Dglucy	T	C	12: 100,811,028 (GRCm39)	V254A	possibly damaging	Het
Disp3	A	G	4: 148,354,841 (GRCm39)	S392P	probably damaging	Het
Dlx6	A	T	6: 6,863,456 (GRCm39)	Q26L	probably benign	Het
Dnah3	T	C	7: 119,684,351 (GRCm39)	D258G	probably damaging	Het
Dnah6	A	T	6: 73,121,688 (GRCm39)	Y1431*	probably null	Het
Dnah7b	T	C	1: 46,330,038 (GRCm39)	I3294T	probably benign	Het
Dnai2	A	G	11: 114,623,839 (GRCm39)	N34S	probably benign	Het
Dock2	T	C	11: 34,260,398 (GRCm39)	K981R	possibly damaging	Het
Entpd8	T	C	2: 24,971,931 (GRCm39)	I33T	probably benign	Het
Eppk1	A	G	15: 75,995,453 (GRCm39)	L476P	probably benign	Het
Etv1	T	A	12: 38,830,716 (GRCm39)		probably null	Het
Fads2b	T	C	2: 85,330,581 (GRCm39)	H242R	probably benign	Het
Fam193a	T	A	5: 34,623,361 (GRCm39)	N1316K	possibly damaging	Het
Fkbp4	T	C	6: 128,415,382 (GRCm39)	E31G	probably benign	Het
Fnbp1l	C	T	3: 122,363,345 (GRCm39)	D81N	probably damaging	Het
Fstl4	T	C	11: 53,024,905 (GRCm39)	V259A	probably damaging	Het
Glipr1l1	T	C	10: 111,912,056 (GRCm39)	S197P	probably damaging	Het
Gprin3	A	T	6: 59,331,197 (GRCm39)	M370K	probably benign	Het
Gsc	G	T	12: 104,439,120 (GRCm39)	Y85*	probably null	Het
Gys2	T	G	6: 142,391,735 (GRCm39)	Y509S	probably damaging	Het
Gys2	T	C	6: 142,406,978 (GRCm39)	N126S	possibly damaging	Het
Hmcn1	A	T	1: 150,488,405 (GRCm39)	W4292R	probably damaging	Het
Hmcn1	C	A	1: 150,500,337 (GRCm39)	E3952*	probably null	Het
Hsd3b9	C	T	3: 98,354,005 (GRCm39)	A165T	possibly damaging	Het
Htr1f	T	C	16: 64,746,825 (GRCm39)	M156V	probably benign	Het
Il21r	G	A	7: 125,228,213 (GRCm39)	G228E	probably benign	Het
Kat6b	C	T	14: 21,567,187 (GRCm39)	S82L	probably benign	Het
Kntc1	T	A	5: 123,940,355 (GRCm39)	L1651Q	probably damaging	Het
Lipi	G	T	16: 75,357,673 (GRCm39)	Y297*	probably null	Het
Mapre3	T	C	5: 31,022,016 (GRCm39)	S190P	possibly damaging	Het
Mmp8	T	A	9: 7,567,467 (GRCm39)	Y442*	probably null	Het
Mmut	A	G	17: 41,252,310 (GRCm39)	E284G	probably damaging	Het
Mt3	G	A	8: 94,880,615 (GRCm39)	E62K	unknown	Het
Myh13	A	G	11: 67,228,579 (GRCm39)	E373G	probably damaging	Het
Myh7	T	C	14: 55,226,374 (GRCm39)	Y422C	probably damaging	Het
Nalcn	A	G	14: 123,834,016 (GRCm39)	V53A	probably damaging	Het
Nucb2	A	G	7: 116,121,070 (GRCm39)		probably null	Het
Opn5	A	T	17: 42,903,890 (GRCm39)	H148Q	probably damaging	Het
Or13a23-ps1	A	T	7: 140,118,782 (GRCm39)	L117F	probably benign	Het
Or51h1	A	T	7: 102,308,927 (GRCm39)	I300L	probably damaging	Het
Or51v14	T	C	7: 103,261,063 (GRCm39)	K166E	possibly damaging	Het
Or6b1	A	T	6: 42,815,010 (GRCm39)	N65I	probably benign	Het
Or7g16	G	T	9: 18,726,742 (GRCm39)	Q283K	probably damaging	Het
Or8b56	C	A	9: 38,739,172 (GRCm39)	H56N	probably damaging	Het
Osmr	T	A	15: 6,850,569 (GRCm39)	D679V	probably damaging	Het
Pde4dip	T	C	3: 97,602,314 (GRCm39)	D2305G	probably benign	Het
Pdgfrl	A	T	8: 41,429,996 (GRCm39)	Q121L	probably damaging	Het
Pls1	C	A	9: 95,658,811 (GRCm39)	V226F	probably damaging	Het
Plxnd1	T	A	6: 115,970,746 (GRCm39)	I341F	probably damaging	Het
Ppfia2	T	A	10: 106,763,640 (GRCm39)	M1211K	probably benign	Het
Prss53	A	G	7: 127,487,554 (GRCm39)	S266P	probably benign	Het
Pycr2	C	T	1: 180,734,397 (GRCm39)	Q226*	probably null	Het
Rad50	T	C	11: 53,583,590 (GRCm39)	H397R	probably benign	Het
Raf1	T	C	6: 115,600,440 (GRCm39)	E393G	probably damaging	Het
Reln	T	C	5: 22,106,617 (GRCm39)	D3251G	probably benign	Het
Robo4	A	T	9: 37,313,206 (GRCm39)		probably benign	Het
Sbf1	A	T	15: 89,173,806 (GRCm39)		probably null	Het
Serpinb6a	T	C	13: 34,109,360 (GRCm39)	D145G	probably damaging	Het
Setx	T	A	2: 29,061,299 (GRCm39)	M2236K	probably damaging	Het
Sgms1	A	G	19: 32,101,758 (GRCm39)	V416A	probably benign	Het
Six5	T	G	7: 18,830,932 (GRCm39)	S520A	probably benign	Het
Sox5	T	A	6: 143,779,118 (GRCm39)	I722F	possibly damaging	Het
Spag17	T	G	3: 99,966,158 (GRCm39)	I1147S	possibly damaging	Het
Spice1	C	T	16: 44,206,065 (GRCm39)	T842I	possibly damaging	Het
Ssbp2	A	G	13: 91,848,800 (GRCm39)	T358A	probably damaging	Het
Taok3	T	C	5: 117,355,307 (GRCm39)		probably null	Het
Tbc1d2b	C	A	9: 90,152,652 (GRCm39)	C38F	probably damaging	Het
Tecrl	C	A	5: 83,457,049 (GRCm39)		probably null	Het
Tgm7	T	C	2: 120,926,980 (GRCm39)	N390D	probably benign	Het
Thsd4	T	G	9: 59,894,649 (GRCm39)	M770L	probably benign	Het
Tmod2	C	A	9: 75,504,624 (GRCm39)		probably benign	Het
Tnks	A	G	8: 35,308,905 (GRCm39)		probably null	Het
Tox3	T	C	8: 90,984,507 (GRCm39)	N224S	probably benign	Het
Trappc10	C	T	10: 78,050,464 (GRCm39)	E326K	probably damaging	Het
Usp16	T	A	16: 87,276,542 (GRCm39)	F627I	probably benign	Het
Vcam1	T	C	3: 115,911,004 (GRCm39)	I465V	probably benign	Het
Vmn1r128	T	C	7: 21,083,683 (GRCm39)	I129T	possibly damaging	Het
Vmn1r217	T	A	13: 23,298,495 (GRCm39)	I136L	probably benign	Het
Vmn2r2	A	T	3: 64,044,802 (GRCm39)	C115S	probably damaging	Het
Vmn2r85	A	C	10: 130,265,350 (GRCm39)	S44R	probably benign	Het
Wasf3	T	A	5: 146,403,635 (GRCm39)	Y248*	probably null	Het
Yipf5	A	T	18: 40,343,851 (GRCm39)	L127M	probably damaging	Het
Zbp1	G	T	2: 173,050,933 (GRCm39)	C312*	probably null	Het
Zfp423	A	T	8: 88,508,742 (GRCm39)	F534Y	probably damaging	Het
Zfp69	T	G	4: 120,792,308 (GRCm39)	Y156S	probably damaging	Het
Zmat4	A	G	8: 24,419,226 (GRCm39)	N155S	probably damaging	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
R7051:Ppfibp2	UTSW	7	107,316,925 (GRCm39)	missense	probably damaging	1.00
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
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'- TGGATCCCAGACCAGTTTAAAG -3'
(R):5'- TTTCCCAGGCTCCTCATGAG -3'

Sequencing Primer
(F):5'- CAGCTGTCGACAGTTGCTG -3'
(R):5'- CTCATGAGGAACCTTTTTACAGCAG -3'

Posted On

2022-02-07