Mutagenetix > Incidental Mutation

Incidental Mutation 'R4842:Ppfia2'

371934

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

042455-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4842 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106470339-106935952 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 106854957 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 553 (T553I)

Ref Sequence

ENSEMBL: ENSMUSP00000151545 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029404
AA Change: T553I

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

SMART Domains

Protein: ENSMUSP00000029404
Gene: ENSMUSG00000053825
AA Change: T553I

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 benign
Transcript: ENSMUST00000217854
AA Change: T553I

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

95% (107/113)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	A	T	17: 14,943,739	I43L	possibly damaging	Het
4930449A18Rik	T	A	3: 59,841,732		noncoding transcript	Het
9530053A07Rik	T	A	7: 28,150,722	C1198S	probably damaging	Het
Abcc8	T	C	7: 46,150,828	K510R	probably damaging	Het
Adamtsl3	C	T	7: 82,528,861	R511C	probably damaging	Het
Arhgap11a	T	C	2: 113,839,762	S339G	probably damaging	Het
C2cd3	A	G	7: 100,416,190	T728A	probably benign	Het
Cand1	C	A	10: 119,213,546		probably null	Het
Catspere1	A	T	1: 177,872,058		noncoding transcript	Het
Cd209c	G	T	8: 3,945,905	R2S	probably benign	Het
Cdc16	A	G	8: 13,781,644		probably benign	Het
Ces1g	C	T	8: 93,333,695	E99K	probably benign	Het
Chrna7	A	C	7: 63,212,448	L10R	probably benign	Het
Clnk	C	T	5: 38,713,069		probably null	Het
Cntrob	C	G	11: 69,315,394	L315F	possibly damaging	Het
Ctdp1	A	G	18: 80,408,726	S145P	unknown	Het
Dennd2a	T	C	6: 39,497,110	D430G	probably damaging	Het
Dnajc16	A	G	4: 141,774,625	F298S	probably damaging	Het
Dock5	T	C	14: 67,817,563	D618G	probably damaging	Het
Drc3	G	A	11: 60,370,535	A171T	probably benign	Het
Ecel1	A	T	1: 87,153,301	N322K	probably damaging	Het
Eftud2	A	G	11: 102,854,814	F362L	probably damaging	Het
Egfr	C	T	11: 16,911,607	H1129Y	probably benign	Het
Eif2b1	A	G	5: 124,576,908	S102P	probably damaging	Het
Erich3	T	A	3: 154,704,843	F112I	possibly damaging	Het
Fam107b	T	C	2: 3,778,543	L261S	probably damaging	Het
Fam198b	G	A	3: 79,936,605	R377H	probably damaging	Het
Fat3	A	C	9: 15,997,587	V2373G	probably damaging	Het
Gadd45a	A	T	6: 67,036,889	L58Q	probably damaging	Het
Gipr	C	T	7: 19,162,676	R165H	probably damaging	Het
Gje1	C	T	10: 14,717,338	G45R	probably null	Het
Gldc	T	A	19: 30,133,732	N548I	possibly damaging	Het
Gm13035	A	G	4: 146,073,423		noncoding transcript	Het
Gm27013	T	A	6: 130,520,737		noncoding transcript	Het
Gm5436	A	T	12: 84,258,810		noncoding transcript	Het
Gm6588	A	T	5: 112,450,240	K218*	probably null	Het
Grik3	C	A	4: 125,691,176	N612K	probably damaging	Het
Hfm1	C	A	5: 106,892,751	W716L	probably damaging	Het
Hist1h2bl	C	T	13: 21,716,064		probably benign	Het
Il5ra	T	C	6: 106,738,375	Y166C	probably damaging	Het
Iqcb1	A	G	16: 36,835,590	E113G	probably benign	Het
Kcnk10	A	T	12: 98,434,916	M486K	probably benign	Het
Kcnv2	A	G	19: 27,323,790	D347G	probably damaging	Het
Kif21b	C	A	1: 136,145,220	H119N	probably damaging	Het
Lamb1	C	T	12: 31,287,433	H388Y	probably damaging	Het
Leng9	T	C	7: 4,149,386	D97G	probably damaging	Het
Lmbr1	G	A	5: 29,287,426	T55I	probably damaging	Het
Lrp1	G	T	10: 127,583,936	R935S	probably damaging	Het
Lrp2	A	T	2: 69,469,411	V3099E	probably benign	Het
Lrrcc1	C	A	3: 14,562,511	D503E	probably benign	Het
Map1a	T	A	2: 121,302,086	S890T	probably damaging	Het
Msh2	C	A	17: 87,723,413	A906E	probably benign	Het
Mybph	A	T	1: 134,198,495	E349V	probably damaging	Het
Myh7b	C	A	2: 155,633,989	L1935M	probably benign	Het
Myh9	T	C	15: 77,769,253	E1348G	probably damaging	Het
Myzap	A	G	9: 71,548,755	S328P	probably damaging	Het
Nbeal1	T	C	1: 60,253,375	L1062P	probably damaging	Het
Nepro	G	A	16: 44,734,797	S412N	probably null	Het
Nr1h3	A	G	2: 91,190,218	F257L	probably benign	Het
Nudt5	T	C	2: 5,864,428	V155A	probably benign	Het
Ofcc1	G	A	13: 40,015,388	T841I	probably damaging	Het
Olfr522	A	G	7: 140,162,689	L87P	possibly damaging	Het
Olfr539	A	T	7: 140,667,589	I94F	probably damaging	Het
Olfr653	A	T	7: 104,580,215	I190L	probably benign	Het
Pde1a	T	A	2: 80,128,837		probably benign	Het
Pde4dip	T	A	3: 97,793,528	H220L	probably damaging	Het
Pde9a	T	A	17: 31,443,161		probably null	Het
Pnkp	C	A	7: 44,861,646		probably null	Het
Pnpla7	A	G	2: 24,980,052	T15A	probably benign	Het
Polq	G	T	16: 37,048,783		probably null	Het
Ptk6	T	G	2: 181,196,991	N323T	possibly damaging	Het
Rhox3c	G	A	X: 37,470,424	A60T	probably damaging	Het
Rnf4	T	A	5: 34,348,709	V61E	probably damaging	Het
Rnf5	A	G	17: 34,602,003		probably benign	Het
Sardh	A	G	2: 27,191,955	V853A	probably benign	Het
Scfd1	T	C	12: 51,389,326	V86A	probably damaging	Het
Scube3	G	A	17: 28,164,123	C425Y	probably damaging	Het
Sema5a	C	T	15: 32,609,417	H490Y	probably benign	Het
Sfta2	T	C	17: 35,649,881		probably benign	Het
Sh3d19	T	C	3: 86,123,742	Y738H	probably damaging	Het
Shc2	T	C	10: 79,622,461	R463G	probably damaging	Het
Socs7	T	A	11: 97,377,003	I320N	possibly damaging	Het
Speer2	A	T	16: 69,858,100	M159K	probably benign	Het
Sppl2c	A	C	11: 104,187,652	H426P	probably benign	Het
Stag3	T	G	5: 138,309,365		probably null	Het
Stxbp5	C	A	10: 9,762,891	V1055L	probably benign	Het
Synpo	A	T	18: 60,603,612	S421T	probably damaging	Het
Taf6l	A	G	19: 8,782,406	V135A	possibly damaging	Het
Tas2r116	G	A	6: 132,855,697	S87N	probably benign	Het
Tomm6	T	C	17: 47,688,069		probably benign	Het
Trabd	T	C	15: 89,082,712	M113T	probably benign	Het
Trim58	G	A	11: 58,651,324	G370E	probably damaging	Het
Ttc41	C	T	10: 86,731,125	R552C	probably benign	Het
Vit	T	C	17: 78,601,879	S252P	probably benign	Het
Vma21-ps	T	A	4: 52,496,943	D101V	probably damaging	Het
Vmn1r173	A	T	7: 23,702,936	I199F	probably damaging	Het
Vmn2r114	T	A	17: 23,310,362	R255S	probably benign	Het
Vmn2r17	A	G	5: 109,434,380	N545S	probably damaging	Het
Zfp865	A	G	7: 5,031,641	Y875C	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
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
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
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
R8806:Ppfia2	UTSW	10	106858253	missense	probably damaging	1.00
R8984:Ppfia2	UTSW	10	106858578	intron	probably benign
R9008:Ppfia2	UTSW	10	106819359	missense	probably benign	0.00
R9014:Ppfia2	UTSW	10	106927805	missense	probably benign	0.05
R9182:Ppfia2	UTSW	10	106927779	missense	probably benign	0.39
R9201:Ppfia2	UTSW	10	106842779	critical splice donor site	probably null
R9249:Ppfia2	UTSW	10	106913568	missense	probably damaging	1.00
R9620:Ppfia2	UTSW	10	106913658	missense
R9710:Ppfia2	UTSW	10	106829024	missense	probably benign	0.00
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

Predicted Primers

PCR Primer
(F):5'- AATATCTGCTCTATCACCTGATGC -3'
(R):5'- ATAAATTACTGCTGGCATTCGGG -3'

Sequencing Primer
(F):5'- ATCACCTGATGCACGTGTC -3'
(R):5'- CATTCGGGTGTCTAGTAGAAATTC -3'

Posted On

2016-03-01