Mutagenetix > Incidental Mutations

Incidental Mutation 'R4718:Ppfia2'

354231

Institutional Source

Beutler Lab

Gene Symbol

Ppfia2

Ensembl Gene

ENSMUSG00000053825

Gene Name

protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2

Synonyms

Liprin-alpha2, E130120L08Rik

MMRRC Submission

041985-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.408) question?

Stock #

R4718 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106470339-106935952 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106858285 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 707 (S707P)

Ref Sequence

ENSEMBL: ENSMUSP00000029404 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029404] [ENSMUST00000217854]

Predicted Effect

probably damaging
Transcript: ENSMUST00000029404
AA Change: S707P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029404
Gene: ENSMUSG00000053825
AA Change: S707P

Domain	Start	End	E-Value	Type
low complexity region	16	29	N/A	INTRINSIC
coiled coil region	32	80	N/A	INTRINSIC
coiled coil region	102	150	N/A	INTRINSIC
coiled coil region	189	234	N/A	INTRINSIC
coiled coil region	267	541	N/A	INTRINSIC
low complexity region	576	587	N/A	INTRINSIC
low complexity region	616	631	N/A	INTRINSIC
coiled coil region	643	691	N/A	INTRINSIC
low complexity region	702	725	N/A	INTRINSIC
SAM	895	964	6.27e-10	SMART
low complexity region	965	977	N/A	INTRINSIC
SAM	1017	1084	1.69e-6	SMART
SAM	1105	1177	6.62e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000217854
AA Change: S707P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

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 has been shown to bind the calcium/calmodulin-dependent serine protein kinase (MAGUK family) protein (also known as CASK) and proposed to regulate higher-order brain functions in mammals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	G	A	5: 114,863,554		probably null	Het
Acsm2	A	T	7: 119,573,603	Y147F	probably damaging	Het
Alg12	A	T	15: 88,806,053	Y413N	probably damaging	Het
Arntl	A	T	7: 113,303,361	I399F	probably damaging	Het
Arrdc3	A	T	13: 80,883,867	Q73L	possibly damaging	Het
Atp13a5	T	C	16: 29,248,170	K1017E	probably damaging	Het
Bms1	T	C	6: 118,403,235	N704D	possibly damaging	Het
Bsph1	T	A	7: 13,472,182	Y47*	probably null	Het
Crat	A	T	2: 30,408,164	Y174*	probably null	Het
Csmd3	G	T	15: 47,698,150	Y2254*	probably null	Het
Cyld	T	A	8: 88,742,305	I568N	probably damaging	Het
Dapl1	T	C	2: 59,484,728	V7A	probably benign	Het
Dhx29	G	A	13: 112,946,935	R508H	unknown	Het
Dnah9	A	G	11: 66,085,473	I1250T	probably benign	Het
Dnajb3	C	T	1: 88,205,339	D114N	probably benign	Het
Dsg1b	A	G	18: 20,397,929	N446D	probably damaging	Het
Dthd1	T	A	5: 62,818,793	V270E	probably damaging	Het
F2rl3	A	C	8: 72,762,908	R254S	possibly damaging	Het
Fam208b	A	T	13: 3,574,495	D1818E	probably benign	Het
Fgfr2	A	G	7: 130,261,788	S24P	probably damaging	Het
Fpr2	T	C	17: 17,893,336	V198A	probably benign	Het
Gbp2b	G	A	3: 142,598,995	G64D	probably damaging	Het
Gbp9	T	G	5: 105,083,758	N321H	probably damaging	Het
Gk2	T	A	5: 97,455,866	Y371F	probably benign	Het
Gm10382	T	C	5: 125,389,398		probably benign	Het
Gpatch3	A	G	4: 133,582,544	D396G	probably benign	Het
Heatr5a	A	C	12: 51,916,163	L985V	possibly damaging	Het
Homer1	T	A	13: 93,391,764	V269E	probably damaging	Het
Hspbap1	T	C	16: 35,787,322	V66A	probably benign	Het
Ighv7-2	A	C	12: 113,912,469	I5M	possibly damaging	Het
Ints7	T	A	1: 191,583,277	F108Y	possibly damaging	Het
Itga7	CT	CTGGGGATT	10: 128,940,734		probably null	Het
Junb	G	A	8: 84,978,432		probably benign	Het
Lcp2	A	G	11: 34,070,992	N116S	probably benign	Het
Lrguk	A	G	6: 34,029,496	T14A	probably benign	Het
Lrrcc1	T	A	3: 14,536,032	H41Q	probably damaging	Het
Ltb	C	A	17: 35,195,337		probably null	Het
Mapk7	A	G	11: 61,489,254	S693P	possibly damaging	Het
Mbd5	A	T	2: 49,256,402	H208L	possibly damaging	Het
Megf9	A	T	4: 70,448,778	S322R	possibly damaging	Het
Mgat4c	T	C	10: 102,388,606	V227A	probably damaging	Het
Mospd3	G	A	5: 137,599,653	T151M	probably benign	Het
Mpl	A	G	4: 118,456,724	S115P	probably benign	Het
Myo6	C	A	9: 80,246,517	D258E	probably benign	Het
N4bp2	G	A	5: 65,803,463	M492I	probably damaging	Het
Ndst3	G	A	3: 123,672,266	A19V	probably benign	Het
Nkx2-3	C	A	19: 43,612,643	T48K	probably benign	Het
Nlrp4f	T	C	13: 65,194,989	T281A	probably benign	Het
Nmur1	A	G	1: 86,387,741	V157A	probably damaging	Het
Obscn	A	T	11: 59,021,954	F6992L	probably damaging	Het
Ocm	G	T	5: 144,024,557	P22Q	possibly damaging	Het
Olfr1105	T	C	2: 87,033,895	T109A	probably damaging	Het
Osbp2	C	A	11: 3,711,793	C753F	probably damaging	Het
Pabpc2	A	G	18: 39,774,503	T274A	probably benign	Het
Pamr1	T	A	2: 102,642,336	I660N	probably damaging	Het
Papola	C	T	12: 105,820,448	T466I	possibly damaging	Het
Pask	T	C	1: 93,322,196	E494G	possibly damaging	Het
Pck1	A	T	2: 173,155,221	I219F	probably damaging	Het
Pgm3	T	C	9: 86,570,395	E4G	probably benign	Het
Pgs1	A	G	11: 118,005,883	H462R	probably damaging	Het
Phlpp2	T	A	8: 109,940,820	M1327K	probably benign	Het
Pkhd1	C	A	1: 20,081,228	G3815W	probably damaging	Het
Plin4	T	A	17: 56,106,981	I215F	possibly damaging	Het
Plod1	T	G	4: 147,916,244		probably benign	Het
Psmd12	A	G	11: 107,486,433	Q86R	probably benign	Het
Rasgrf2	C	A	13: 91,990,830		probably null	Het
Rictor	T	C	15: 6,783,160	S926P	possibly damaging	Het
Rras2	A	T	7: 114,050,349	I160N	probably benign	Het
Slc27a6	A	T	18: 58,605,066	Y398F	probably benign	Het
Speer4f1	A	G	5: 17,480,424	E239G	unknown	Het
Sppl2c	T	C	11: 104,188,315	I647T	probably benign	Het
Sptan1	A	G	2: 30,031,062	Y2467C	probably damaging	Het
Sptbn1	G	T	11: 30,154,297	H136N	probably damaging	Het
Stau2	T	C	1: 16,346,045		probably null	Het
Tet1	T	A	10: 62,813,812	I40F	probably damaging	Het
Tnfaip2	A	G	12: 111,446,029	E288G	possibly damaging	Het
Trav7-5	T	A	14: 53,531,153	H59Q	probably benign	Het
Usp53	T	C	3: 122,933,982	I984V	probably benign	Het
Wdfy4	A	G	14: 33,145,316	I403T	probably benign	Het
Yars2	T	A	16: 16,309,340	M423K	probably benign	Het
Zfp292	A	T	4: 34,819,521	V272D	possibly damaging	Het
Zmynd11	A	T	13: 9,689,567	V478D	possibly damaging	Het

Other mutations in Ppfia2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Ppfia2	APN	10	106819492	missense	probably benign	0.25
IGL01296:Ppfia2	APN	10	106858207	missense	probably damaging	0.98
IGL01385:Ppfia2	APN	10	106913699	missense	probably damaging	1.00
IGL01592:Ppfia2	APN	10	106836048	splice site	probably benign
IGL01899:Ppfia2	APN	10	106915751	critical splice donor site	probably null
IGL02063:Ppfia2	APN	10	106904845	missense	probably null	0.83
IGL02143:Ppfia2	APN	10	106857499	missense	probably damaging	1.00
IGL02170:Ppfia2	APN	10	106800785	missense	probably benign
IGL02565:Ppfia2	APN	10	106863386	critical splice donor site	probably null
IGL02573:Ppfia2	APN	10	106828928	missense	probably damaging	1.00
IGL02819:Ppfia2	APN	10	106906394	missense	probably damaging	1.00
IGL02974:Ppfia2	APN	10	106800776	missense	probably benign	0.08
IGL03165:Ppfia2	APN	10	106767487	missense	probably damaging	1.00
IGL03255:Ppfia2	APN	10	106896507	missense	possibly damaging	0.76
R0018:Ppfia2	UTSW	10	106842786	splice site	probably benign
R0018:Ppfia2	UTSW	10	106842786	splice site	probably benign
R0323:Ppfia2	UTSW	10	106896420	missense	possibly damaging	0.84
R0391:Ppfia2	UTSW	10	106830714	splice site	probably benign
R0667:Ppfia2	UTSW	10	106913694	missense	probably damaging	0.97
R0782:Ppfia2	UTSW	10	106927731	missense	probably benign	0.32
R0905:Ppfia2	UTSW	10	106819511	missense	probably benign	0.43
R1401:Ppfia2	UTSW	10	106830657	missense	possibly damaging	0.94
R1672:Ppfia2	UTSW	10	106830568	missense	possibly damaging	0.53
R1723:Ppfia2	UTSW	10	106915672	splice site	probably null
R1780:Ppfia2	UTSW	10	106896507	missense	possibly damaging	0.76
R1847:Ppfia2	UTSW	10	106927710	missense	probably benign	0.16
R2015:Ppfia2	UTSW	10	106474677	missense	probably benign	0.01
R2051:Ppfia2	UTSW	10	106837299	missense	probably damaging	0.98
R2061:Ppfia2	UTSW	10	106837329	missense	possibly damaging	0.94
R2115:Ppfia2	UTSW	10	106762111	missense	probably damaging	1.00
R2310:Ppfia2	UTSW	10	106854980	missense	probably damaging	0.99
R2394:Ppfia2	UTSW	10	106819490	missense	probably damaging	0.99
R2656:Ppfia2	UTSW	10	106865407	splice site	probably null
R3113:Ppfia2	UTSW	10	106906395	nonsense	probably null
R3968:Ppfia2	UTSW	10	106906521	missense	probably damaging	0.99
R3977:Ppfia2	UTSW	10	106830629	missense	possibly damaging	0.69
R3978:Ppfia2	UTSW	10	106830629	missense	possibly damaging	0.69
R3979:Ppfia2	UTSW	10	106830629	missense	possibly damaging	0.69
R4567:Ppfia2	UTSW	10	106865406	splice site	probably null
R4632:Ppfia2	UTSW	10	106836044	splice site	probably null
R4758:Ppfia2	UTSW	10	106762117	missense	probably damaging	1.00
R4770:Ppfia2	UTSW	10	106762117	missense	probably damaging	1.00
R4810:Ppfia2	UTSW	10	106915690	missense	probably benign	0.01
R4841:Ppfia2	UTSW	10	106854957	missense	probably benign	0.04
R4842:Ppfia2	UTSW	10	106854957	missense	probably benign	0.04
R4914:Ppfia2	UTSW	10	106762117	missense	probably damaging	1.00
R4916:Ppfia2	UTSW	10	106762117	missense	probably damaging	1.00
R4917:Ppfia2	UTSW	10	106762117	missense	probably damaging	1.00
R5014:Ppfia2	UTSW	10	106865363	nonsense	probably null
R5029:Ppfia2	UTSW	10	106857443	missense	probably benign	0.04
R5127:Ppfia2	UTSW	10	106835760	missense	probably damaging	0.99
R5357:Ppfia2	UTSW	10	106904847	critical splice donor site	probably null
R5420:Ppfia2	UTSW	10	106835701	missense	possibly damaging	0.88
R6030:Ppfia2	UTSW	10	106906477	missense	probably damaging	1.00
R6030:Ppfia2	UTSW	10	106906477	missense	probably damaging	1.00
R6135:Ppfia2	UTSW	10	106857569	missense	probably damaging	1.00
R6237:Ppfia2	UTSW	10	106913594	missense	probably damaging	1.00
R6433:Ppfia2	UTSW	10	106913698	missense	possibly damaging	0.94
R6457:Ppfia2	UTSW	10	106893500	missense	probably damaging	1.00
R6542:Ppfia2	UTSW	10	106835725	missense	probably damaging	0.99
R6674:Ppfia2	UTSW	10	106927772	missense	probably benign	0.23
R6746:Ppfia2	UTSW	10	106906458	nonsense	probably null
X0021:Ppfia2	UTSW	10	106474677	missense	probably benign	0.06
X0022:Ppfia2	UTSW	10	106893434	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCGAAATCTAATTGCCATTAAGTGACC -3'
(R):5'- GTTCCCTTAACCCATAATGTGATG -3'

Sequencing Primer
(F):5'- GAATTGCGTGCTGAAGA -3'
(R):5'- AAGGATGTTAACTATCAGAAATGGC -3'

Posted On

2015-10-21