Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02573:Ppfia2'

299106

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02573

Quality Score

Status

Chromosome

Chromosomal Location

106470339-106935952 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106828928 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 342 (T342A)

Ref Sequence

ENSEMBL: ENSMUSP00000029404 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000029404
AA Change: T342A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029404
Gene: ENSMUSG00000053825
AA Change: T342A

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: T342A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Coding Region Coverage

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl3	T	A	4: 99,037,934	W434R	probably damaging	Het
Atp7b	T	C	8: 22,022,470	Q344R	probably benign	Het
B4galt5	C	T	2: 167,305,062	R284Q	probably benign	Het
Ccdc80	T	G	16: 45,095,589	V236G	probably damaging	Het
Chd8	T	C	14: 52,219,734	I926V	possibly damaging	Het
Dgkz	A	C	2: 91,934,197	S1030R	probably damaging	Het
Disp3	T	A	4: 148,271,449	D318V	probably damaging	Het
Ehd1	T	C	19: 6,294,300	S197P	probably damaging	Het
Emp1	A	G	6: 135,379,947	K42R	probably benign	Het
Fam71a	G	A	1: 191,163,870	T192I	probably damaging	Het
Gm4922	T	A	10: 18,783,675	D433V	probably benign	Het
Gsdma	T	C	11: 98,670,751		probably benign	Het
Hspbp1	G	T	7: 4,677,853	A208E	probably damaging	Het
Il5ra	A	T	6: 106,716,751	V342E	possibly damaging	Het
Kif13b	T	C	14: 64,803,431	F1660S	probably damaging	Het
Lvrn	A	G	18: 46,876,949	E388G	probably damaging	Het
Mettl17	G	A	14: 51,888,047		probably null	Het
Mgat5b	T	C	11: 116,977,714	Y488H	probably benign	Het
Mtr	A	T	13: 12,199,127	D886E	possibly damaging	Het
Naip6	A	T	13: 100,299,471	L848*	probably null	Het
Nav3	A	G	10: 109,866,974	S233P	probably benign	Het
Nme9	A	T	9: 99,470,855	D286V	probably benign	Het
Nod1	C	A	6: 54,943,945	A463S	probably benign	Het
Nthl1	A	G	17: 24,633,975	K51R	probably benign	Het
Olfr354	A	G	2: 36,907,554	I203V	probably damaging	Het
Olfr427	T	A	1: 174,100,130	V224D	possibly damaging	Het
Pcnx2	G	A	8: 125,855,273	A908V	probably benign	Het
Pdcd6	A	G	13: 74,303,979	Y181H	probably damaging	Het
Pde10a	A	C	17: 8,961,890	I719L	probably benign	Het
Pikfyve	T	A	1: 65,230,855		probably null	Het
Plekha5	G	T	6: 140,582,016	A396S	probably damaging	Het
Rbck1	A	G	2: 152,322,167	I339T	possibly damaging	Het
Rbms2	A	T	10: 128,143,440	I140N	probably damaging	Het
Scn1b	A	T	7: 31,123,121	L78Q	possibly damaging	Het
Slc12a6	T	C	2: 112,358,641		probably null	Het
Slc25a30	A	T	14: 75,769,668		probably benign	Het
Slc30a7	C	T	3: 115,990,147		probably benign	Het
Slc5a10	C	A	11: 61,673,072	R546L	possibly damaging	Het
Stxbp4	T	C	11: 90,540,269	D405G	probably damaging	Het
Tm4sf19	A	C	16: 32,407,860	T156P	possibly damaging	Het
Tmem37	A	T	1: 120,067,989	D119E	probably damaging	Het
Tor1aip1	T	A	1: 156,013,371	N113I	probably damaging	Het
Ubac2	T	A	14: 121,907,390	Y87N	possibly damaging	Het
Usp29	A	T	7: 6,962,618		probably null	Het
Wdr92	T	C	11: 17,212,136	L58P	possibly damaging	Het
Zfp276	A	G	8: 123,264,997	E428G	probably 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
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
Colorless	UTSW	10	106913594	missense	probably damaging	1.00
PIT4458001:Ppfia2	UTSW	10	106927847	missense	probably benign	0.24
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
R4718:Ppfia2	UTSW	10	106858285	missense	probably damaging	1.00
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
R6992:Ppfia2	UTSW	10	106474854	missense	possibly damaging	0.88
R7060:Ppfia2	UTSW	10	106762109	missense	probably damaging	1.00
R7346:Ppfia2	UTSW	10	106857495	missense	possibly damaging	0.79
R7453:Ppfia2	UTSW	10	106927830	missense	possibly damaging	0.82
R7555:Ppfia2	UTSW	10	106927826	missense	probably benign	0.00
R7622:Ppfia2	UTSW	10	106830659	missense	possibly damaging	0.86
R7637:Ppfia2	UTSW	10	106865403	critical splice donor site	probably null
R7866:Ppfia2	UTSW	10	106819529	missense	probably damaging	0.97
R7897:Ppfia2	UTSW	10	106819538	missense	probably damaging	0.99
R7937:Ppfia2	UTSW	10	106863372	missense	probably benign	0.30
R7938:Ppfia2	UTSW	10	106474787	missense	probably damaging	0.97
R8218:Ppfia2	UTSW	10	106863375	missense	probably benign	0.07
R8431:Ppfia2	UTSW	10	106836091	nonsense	probably null
X0021:Ppfia2	UTSW	10	106474677	missense	probably benign	0.06
X0022:Ppfia2	UTSW	10	106893434	missense	probably damaging	1.00
Z1176:Ppfia2	UTSW	10	106474645	missense	probably damaging	0.97
Z1177:Ppfia2	UTSW	10	106906555	missense	probably damaging	1.00

Posted On

2015-04-16