Mutagenetix > Incidental Mutation

Incidental Mutation 'R6255:Ppfibp2'

506058

Institutional Source

Beutler Lab

Gene Symbol

Ppfibp2

Ensembl Gene

ENSMUSG00000036528

Gene Name

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

Synonyms

Cclp1, liprin beta 2

MMRRC Submission

044372-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6255 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107595207-107748583 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107681762 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 94 (S94P)

Ref Sequence

ENSEMBL: ENSMUSP00000146889 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040056] [ENSMUST00000098134] [ENSMUST00000208956]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000040056
AA Change: S94P

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

SMART Domains

Protein: ENSMUSP00000042574
Gene: ENSMUSG00000036528
AA Change: S94P

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: S94P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000095738
Gene: ENSMUSG00000036528
AA Change: S94P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208504

Predicted Effect

probably damaging
Transcript: ENSMUST00000208956
AA Change: S94P

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

Meta Mutation Damage Score

0.0786

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (58/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,466,123	V7E	possibly damaging	Het
Aars2	G	A	17: 45,514,609	G333S	probably damaging	Het
Aen	T	A	7: 78,905,844	I85N	probably damaging	Het
Ahnak	C	A	19: 9,008,025	H2224Q	possibly damaging	Het
Aldh18a1	C	T	19: 40,580,043	R41H	possibly damaging	Het
Bpifb9b	T	A	2: 154,309,364	W2R	probably damaging	Het
Caprin2	A	G	6: 148,877,892	I139T	probably benign	Het
Cdhr3	T	A	12: 33,053,475	N381I	probably damaging	Het
Cecr2	A	G	6: 120,758,050	Y721C	probably damaging	Het
Cherp	G	T	8: 72,470,881	A125D	probably damaging	Het
Cped1	G	A	6: 22,138,715		probably null	Het
Ctdp1	T	A	18: 80,459,297		probably null	Het
Cyp2c55	T	C	19: 39,018,667	I169T	probably benign	Het
Cyp4a31	T	C	4: 115,574,920	L418P	possibly damaging	Het
Efcab7	T	C	4: 99,829,390		probably benign	Het
Efcab8	T	C	2: 153,810,268	W466R	possibly damaging	Het
Ehd3	C	A	17: 73,805,413	N57K	probably benign	Het
Ern2	C	A	7: 122,173,272	K654N	probably damaging	Het
Fbxo18	A	T	2: 11,748,446	F879L	probably benign	Het
Gde1	T	C	7: 118,691,781	D92G	probably null	Het
Gm4788	A	T	1: 139,753,011	C256*	probably null	Het
Heatr5b	A	G	17: 78,803,434	V995A	probably damaging	Het
Ifrd2	A	G	9: 107,592,091	E346G	probably damaging	Het
Ism1	AACGGACCCGTTCTTGTGGCTATGCA	AA	2: 139,746,042		probably benign	Het
Itgb4	T	C	11: 115,998,137	V1102A	possibly damaging	Het
Itgb6	A	T	2: 60,605,276	I710N	probably damaging	Het
Kif1a	T	C	1: 93,019,983	K1578E	probably damaging	Het
Kif9	T	C	9: 110,517,834		probably null	Het
Kitl	T	C	10: 100,089,233	*57Q	probably null	Het
Lrat	C	A	3: 82,903,505	V70F	probably damaging	Het
Lrrc9	T	A	12: 72,487,023	M1022K	probably benign	Het
Muc16	T	C	9: 18,655,599	T1875A	unknown	Het
Mup4	T	A	4: 59,957,890	N171I	probably damaging	Het
Npas4	G	A	19: 4,986,375	T587I	probably damaging	Het
Oas3	A	G	5: 120,771,230	V217A	probably benign	Het
Olfr786	A	G	10: 129,437,688	N292S	possibly damaging	Het
Osbp	C	A	19: 11,977,953	A323D	possibly damaging	Het
Panx2	G	A	15: 89,067,618	R96H	probably damaging	Het
Pcdhb18	G	A	18: 37,490,484	R289Q	probably benign	Het
Piezo2	T	C	18: 63,121,270	R385G	possibly damaging	Het
Pkn2	T	C	3: 142,811,599	T476A	probably damaging	Het
Plekha4	T	C	7: 45,553,802		probably benign	Het
Pramel7	T	A	2: 87,489,663	I429L	probably benign	Het
Rif1	A	G	2: 52,085,053	K325E	probably damaging	Het
Ror2	T	C	13: 53,110,542	Y826C	probably damaging	Het
Rsph10b	G	A	5: 143,959,746	G19R	probably damaging	Het
Slc20a1	A	G	2: 129,208,004	N361D	probably damaging	Het
Slc26a9	A	G	1: 131,763,909	D630G	probably benign	Het
Smtnl2	G	A	11: 72,401,399	A274V	probably damaging	Het
Trank1	T	C	9: 111,352,246		probably null	Het
Tspan10	T	A	11: 120,444,542	C159*	probably null	Het
Uba6	G	A	5: 86,164,765	T23I	probably benign	Het
Vmn2r74	T	C	7: 85,952,451	T660A	possibly damaging	Het
Vwa5b1	T	C	4: 138,578,672	N905S	probably benign	Het
Zfp831	T	C	2: 174,646,421	L963P	possibly damaging	Het
Zfp990	T	A	4: 145,537,789	N452K	probably benign	Het

Other mutations in Ppfibp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00426:Ppfibp2	APN	7	107708805	missense	probably damaging	1.00
IGL00429:Ppfibp2	APN	7	107697594	missense	probably benign	0.18
IGL00785:Ppfibp2	APN	7	107737887	missense	probably benign
IGL00821:Ppfibp2	APN	7	107729876	missense	probably damaging	1.00
IGL01295:Ppfibp2	APN	7	107747539	unclassified	probably benign
IGL01361:Ppfibp2	APN	7	107744301	splice site	probably null
IGL02115:Ppfibp2	APN	7	107739318	unclassified	probably benign
IGL02323:Ppfibp2	APN	7	107738629	missense	probably damaging	1.00
IGL02458:Ppfibp2	APN	7	107742964	missense	probably damaging	1.00
IGL02731:Ppfibp2	APN	7	107746422	missense	possibly damaging	0.92
IGL03343:Ppfibp2	APN	7	107737919	nonsense	probably null
R0142:Ppfibp2	UTSW	7	107744177	missense	probably damaging	1.00
R0555:Ppfibp2	UTSW	7	107729174	missense	probably damaging	1.00
R0630:Ppfibp2	UTSW	7	107738599	critical splice acceptor site	probably null
R1374:Ppfibp2	UTSW	7	107685988	splice site	probably benign
R1668:Ppfibp2	UTSW	7	107729892	missense	probably damaging	1.00
R1731:Ppfibp2	UTSW	7	107740589	missense	probably damaging	1.00
R1830:Ppfibp2	UTSW	7	107637297	missense	probably damaging	1.00
R1902:Ppfibp2	UTSW	7	107746378	missense	probably damaging	1.00
R2061:Ppfibp2	UTSW	7	107739230	missense	probably damaging	1.00
R2929:Ppfibp2	UTSW	7	107697651	missense	probably damaging	0.99
R3777:Ppfibp2	UTSW	7	107729189	missense	probably benign	0.00
R3778:Ppfibp2	UTSW	7	107729189	missense	probably benign	0.00
R4839:Ppfibp2	UTSW	7	107742985	missense	probably damaging	1.00
R4879:Ppfibp2	UTSW	7	107729183	missense	probably benign	0.01
R5643:Ppfibp2	UTSW	7	107737890	missense	probably damaging	1.00
R5773:Ppfibp2	UTSW	7	107685872	missense	possibly damaging	0.74
R6356:Ppfibp2	UTSW	7	107681769	missense	probably benign	0.01
R6843:Ppfibp2	UTSW	7	107727731	missense	probably benign	0.00
R6889:Ppfibp2	UTSW	7	107737981	missense	possibly damaging	0.94
R7051:Ppfibp2	UTSW	7	107717718	missense	probably damaging	1.00
R7194:Ppfibp2	UTSW	7	107722980	critical splice donor site	probably null
R7654:Ppfibp2	UTSW	7	107738611	missense	probably damaging	0.99
R7678:Ppfibp2	UTSW	7	107716666	missense	probably damaging	0.98
R7895:Ppfibp2	UTSW	7	107721317	splice site	probably null
R8385:Ppfibp2	UTSW	7	107697687	missense	probably benign	0.44
R8434:Ppfibp2	UTSW	7	107728750	critical splice donor site	probably null
R8691:Ppfibp2	UTSW	7	107747578	missense	probably damaging	0.99
R8695:Ppfibp2	UTSW	7	107685856	splice site	probably benign
R8700:Ppfibp2	UTSW	7	107746395	missense	possibly damaging	0.94
R8755:Ppfibp2	UTSW	7	107744225	missense	probably damaging	1.00
R9172:Ppfibp2	UTSW	7	107738318	nonsense	probably null
R9182:Ppfibp2	UTSW	7	107708846	missense	possibly damaging	0.72
R9355:Ppfibp2	UTSW	7	107722962	missense	probably benign	0.00
R9545:Ppfibp2	UTSW	7	107738297	missense	probably damaging	1.00
R9688:Ppfibp2	UTSW	7	107719241	missense	probably benign	0.02
RF022:Ppfibp2	UTSW	7	107697610	missense	probably damaging	1.00
Z1177:Ppfibp2	UTSW	7	107743050	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- TCAAGGGTGAGGTCATCAGG -3'
(R):5'- GGTTCCCAACGCTTTCCAAC -3'

Sequencing Primer
(F):5'- GACACACCTTTTAGTGGCATG -3'
(R):5'- GCTTTCCAACAGAGGACTCG -3'

Posted On

2018-02-28