Mutagenetix > Incidental Mutation

Incidental Mutation 'R4879:Ppfibp2'

375133

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

042488-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4879 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107194414-107347790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107328390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 485 (S485P)

Ref Sequence

ENSEMBL: ENSMUSP00000042574 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000040056
AA Change: S485P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000042574
Gene: ENSMUSG00000036528
AA Change: S485P

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 benign
Transcript: ENSMUST00000098134
AA Change: S474P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000095738
Gene: ENSMUSG00000036528
AA Change: S474P

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

Meta Mutation Damage Score

0.0824

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

97% (86/89)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,110,526 (GRCm39)	Y541F	probably damaging	Het
Acot12	T	A	13: 91,911,083 (GRCm39)	V136E	probably benign	Het
Aftph	A	G	11: 20,648,311 (GRCm39)		probably null	Het
Ambra1	C	T	2: 91,603,039 (GRCm39)		probably benign	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Ano9	T	C	7: 140,690,415 (GRCm39)	D73G	probably benign	Het
Asap3	G	A	4: 135,969,975 (GRCm39)	D778N	probably benign	Het
Atp8a2	G	T	14: 60,245,918 (GRCm39)	Y591*	probably null	Het
Blk	T	C	14: 63,613,414 (GRCm39)	T365A	probably benign	Het
C4b	G	T	17: 34,962,621 (GRCm39)	S27Y	probably damaging	Het
C6	G	T	15: 4,833,129 (GRCm39)		probably null	Het
Ccdc33	T	A	9: 57,974,839 (GRCm39)	I345F	possibly damaging	Het
Cetn3	T	A	13: 81,940,268 (GRCm39)		probably benign	Het
Cntn3	T	A	6: 102,244,389 (GRCm39)	I387L	possibly damaging	Het
Cog8	A	G	8: 107,782,984 (GRCm39)	C102R	probably damaging	Het
Cspg4b	T	C	13: 113,456,321 (GRCm39)	I789T	probably benign	Het
Cyp2c55	CA	C	19: 39,030,522 (GRCm39)		probably null	Het
Defa40	T	A	8: 21,740,380 (GRCm39)	L62Q	probably damaging	Het
Dmxl1	C	T	18: 50,022,534 (GRCm39)	A1624V	probably damaging	Het
Dnah1	T	G	14: 31,022,705 (GRCm39)	E1144A	possibly damaging	Het
Dnah12	T	A	14: 26,439,201 (GRCm39)		probably null	Het
Dnah2	G	A	11: 69,367,517 (GRCm39)	T1794I	probably damaging	Het
Entrep1	T	C	19: 23,953,019 (GRCm39)		probably null	Het
Erbin	A	T	13: 103,971,282 (GRCm39)	M778K	probably benign	Het
Fbxw10	G	T	11: 62,738,573 (GRCm39)	A156S	probably damaging	Het
Flnc	T	A	6: 29,460,805 (GRCm39)	F2632Y	probably damaging	Het
Frmd4a	A	G	2: 4,534,628 (GRCm39)	K160E	probably damaging	Het
Glipr1l2	A	G	10: 111,943,029 (GRCm39)	K295E	probably benign	Het
Herc1	T	A	9: 66,370,119 (GRCm39)	C465*	probably null	Het
Hoxb4	A	G	11: 96,211,014 (GRCm39)	I205V	probably damaging	Het
Ikbke	GCC	G	1: 131,203,004 (GRCm39)		probably null	Het
Il36a	A	G	2: 24,106,032 (GRCm39)	N29S	probably benign	Het
Ilk	A	G	7: 105,391,011 (GRCm39)	S292G	probably benign	Het
Itgb5	G	C	16: 33,696,348 (GRCm39)	G180R	probably damaging	Het
Josd1-ps	T	C	7: 27,648,768 (GRCm39)		noncoding transcript	Het
Kcnip4	T	C	5: 48,567,207 (GRCm39)	D120G	possibly damaging	Het
Kin	A	G	2: 10,085,455 (GRCm39)	D5G	probably benign	Het
Lrrtm2	C	A	18: 35,346,372 (GRCm39)	G310V	probably damaging	Het
Med1	T	C	11: 98,046,186 (GRCm39)		probably benign	Het
Mepce	C	A	5: 137,783,544 (GRCm39)		probably benign	Het
Nckipsd	T	A	9: 108,691,114 (GRCm39)		probably benign	Het
Notch3	T	A	17: 32,366,937 (GRCm39)	Q866L	probably benign	Het
Or52b4	A	T	7: 102,183,962 (GRCm39)	T3S	probably benign	Het
Or5l14	A	T	2: 87,793,040 (GRCm39)	H65Q	possibly damaging	Het
Or8k20	A	T	2: 86,106,107 (GRCm39)	C241*	probably null	Het
Orai1	T	C	5: 123,149,894 (GRCm39)		probably benign	Het
Pate12	G	A	9: 36,344,089 (GRCm39)	C24Y	probably damaging	Het
Pcdhb8	A	T	18: 37,489,219 (GRCm39)	E299V	probably damaging	Het
Pcnx4	G	A	12: 72,613,959 (GRCm39)	D635N	probably damaging	Het
Pex5	T	C	6: 124,375,322 (GRCm39)	I567V	probably benign	Het
Sbno1	T	C	5: 124,542,087 (GRCm39)	Y356C	probably damaging	Het
Sdcbp	T	C	4: 6,381,056 (GRCm39)	I67T	possibly damaging	Het
Slc5a7	A	G	17: 54,583,679 (GRCm39)	I537T	probably benign	Het
Slc66a1	A	T	4: 139,029,095 (GRCm39)		probably null	Het
Smad4	A	G	18: 73,774,974 (GRCm39)	C442R	probably damaging	Het
Smpd5	A	G	15: 76,179,070 (GRCm39)	H146R	possibly damaging	Het
Snai2	A	G	16: 14,524,605 (GRCm39)	Y37C	probably benign	Het
Snapc4	C	T	2: 26,256,004 (GRCm39)	S840N	possibly damaging	Het
Stpg2	T	C	3: 138,921,134 (GRCm39)	I113T	probably benign	Het
Tbc1d32	T	C	10: 55,925,125 (GRCm39)		probably null	Het
Tfg	A	T	16: 56,521,520 (GRCm39)	S39R	probably damaging	Het
Thsd7b	T	A	1: 130,116,236 (GRCm39)	S1330T	possibly damaging	Het
Tnfaip3	T	C	10: 18,881,321 (GRCm39)	T322A	probably benign	Het
Tpra1	A	G	6: 88,888,691 (GRCm39)	Y291C	probably damaging	Het
Trcg1	A	G	9: 57,154,003 (GRCm39)	D658G	probably damaging	Het
Trip4	C	T	9: 65,782,304 (GRCm39)	V143I	probably benign	Het
Trp53bp1	T	C	2: 121,033,084 (GRCm39)	K1691E	probably damaging	Het
Ttc8	T	A	12: 98,908,562 (GRCm39)	M77K	possibly damaging	Het
Tubb2a	A	T	13: 34,258,572 (GRCm39)	M406K	probably benign	Het
Txnrd1	T	A	10: 82,717,751 (GRCm39)		probably null	Het
Ugt2a3	C	A	5: 87,479,144 (GRCm39)	R268L	probably benign	Het
Usp34	T	G	11: 23,323,410 (GRCm39)	M982R	possibly damaging	Het
Vmn2r43	T	A	7: 8,258,102 (GRCm39)	K370N	probably benign	Het
Vopp1	A	T	6: 57,739,355 (GRCm39)		probably benign	Het
Vps11	A	C	9: 44,264,597 (GRCm39)	C660G	probably benign	Het
Wnk1	T	C	6: 119,926,338 (GRCm39)	H1137R	probably damaging	Het
Wtap	A	G	17: 13,188,322 (GRCm39)	Y193H	probably damaging	Het
Zfp462	T	A	4: 55,009,444 (GRCm39)	V470D	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
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
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'- TCCAGGCATCTTGGTATGGAG -3'
(R):5'- CAGTCTTCTCTGTGAATGTGACTC -3'

Sequencing Primer
(F):5'- CTTGGTATGGAGCTCAATGATAAAG -3'
(R):5'- GAATGTGACTCTTCCACTTCCACAG -3'

Posted On

2016-03-17