Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02143:Ppfia2'

281685

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02143

Quality Score

Status

Chromosome

Chromosomal Location

106305129-106769329 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106693360 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 622 (D622N)

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: D622N

PolyPhen 2 Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000029404
Gene: ENSMUSG00000053825
AA Change: D622N

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: D622N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	T	C	9: 122,194,278 (GRCm39)	M1T	probably null	Het
Ager	G	A	17: 34,818,092 (GRCm39)	G183E	probably damaging	Het
Alcam	C	A	16: 52,125,982 (GRCm39)	V112L	probably damaging	Het
Amot	T	A	X: 144,270,024 (GRCm39)	Q204H	probably damaging	Het
Ankar	C	T	1: 72,697,808 (GRCm39)		probably null	Het
Armc9	A	G	1: 86,104,587 (GRCm39)	M279V	possibly damaging	Het
Bpifb1	C	T	2: 154,051,849 (GRCm39)	T218I	probably benign	Het
Cacna1f	A	C	X: 7,480,234 (GRCm39)		probably benign	Het
Cacna2d2	T	C	9: 107,395,474 (GRCm39)		probably null	Het
Ccdc57	A	T	11: 120,752,069 (GRCm39)	C837*	probably null	Het
Ctbp2	G	A	7: 132,592,885 (GRCm39)	A808V	probably damaging	Het
Dcbld2	T	C	16: 58,268,889 (GRCm39)		probably null	Het
Dis3	T	C	14: 99,328,754 (GRCm39)		probably benign	Het
Disp2	T	C	2: 118,620,450 (GRCm39)	F394S	probably damaging	Het
Dnah1	T	C	14: 31,005,246 (GRCm39)	N2336S	probably damaging	Het
Drap1	C	A	19: 5,473,871 (GRCm39)	L66F	probably damaging	Het
Eif5a2	C	T	3: 28,847,888 (GRCm39)	R109C	probably benign	Het
Enpp1	A	T	10: 24,553,872 (GRCm39)	D105E	probably damaging	Het
Evi5l	G	A	8: 4,241,293 (GRCm39)	M275I	probably damaging	Het
Flt1	T	C	5: 147,515,246 (GRCm39)	T1059A	probably benign	Het
Fndc3c1	T	C	X: 105,516,340 (GRCm39)		probably benign	Het
Git1	T	C	11: 77,396,813 (GRCm39)	V645A	possibly damaging	Het
Gm7735	T	A	16: 88,966,437 (GRCm39)	C20*	probably null	Het
Ighv1-42	G	T	12: 114,900,906 (GRCm39)	P60T	probably benign	Het
Jakmip2	A	T	18: 43,696,350 (GRCm39)	L533Q	probably damaging	Het
Kdm2b	C	T	5: 123,085,898 (GRCm39)	E238K	probably damaging	Het
Lpin2	T	C	17: 71,550,921 (GRCm39)	S694P	probably damaging	Het
Mab21l2	C	T	3: 86,454,562 (GRCm39)	R146Q	possibly damaging	Het
Mmp1b	A	T	9: 7,386,400 (GRCm39)	S174T	probably benign	Het
Neb	T	C	2: 52,181,211 (GRCm39)	Y1132C	probably damaging	Het
Nhsl1	A	T	10: 18,387,383 (GRCm39)	H219L	possibly damaging	Het
Nwd2	T	A	5: 63,948,996 (GRCm39)		probably null	Het
Obp1a	A	C	X: 77,134,449 (GRCm39)	M18R	possibly damaging	Het
Or13a19	A	T	7: 139,903,505 (GRCm39)	K298*	probably null	Het
Or2ag13	T	C	7: 106,473,180 (GRCm39)	T91A	probably benign	Het
Pabpc5	T	A	X: 118,837,688 (GRCm39)	M1K	probably null	Het
Paxip1	A	G	5: 27,980,596 (GRCm39)		probably benign	Het
Perm1	A	G	4: 156,302,500 (GRCm39)	E348G	probably benign	Het
Pfkfb1	T	C	X: 149,405,138 (GRCm39)	F170L	probably damaging	Het
Pou3f3	A	G	1: 42,737,686 (GRCm39)	M461V	probably benign	Het
Prtg	T	G	9: 72,799,606 (GRCm39)	S801R	probably damaging	Het
Rars2	T	A	4: 34,623,404 (GRCm39)		probably benign	Het
Rasal1	A	G	5: 120,790,917 (GRCm39)	D35G	probably damaging	Het
Repin1	T	A	6: 48,574,055 (GRCm39)	L272Q	probably damaging	Het
Spmip5	C	A	19: 58,777,684 (GRCm39)	R34L	possibly damaging	Het
Stk36	T	C	1: 74,655,728 (GRCm39)		probably benign	Het
Tbxa2r	A	G	10: 81,170,320 (GRCm39)	T269A	probably benign	Het
Tmem132c	G	A	5: 127,640,466 (GRCm39)	R879Q	probably benign	Het
Vmn1r78	C	A	7: 11,886,407 (GRCm39)	A6E	probably benign	Het
Vps45	A	T	3: 95,941,133 (GRCm39)	N369K	probably benign	Het
Vps45	T	C	3: 95,926,958 (GRCm39)	I530V	probably benign	Het
Zkscan16	G	A	4: 58,956,911 (GRCm39)	G398R	probably damaging	Het

Other mutations in Ppfia2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Ppfia2	APN	10	106,655,353 (GRCm39)	missense	probably benign	0.25
IGL01296:Ppfia2	APN	10	106,694,068 (GRCm39)	missense	probably damaging	0.98
IGL01385:Ppfia2	APN	10	106,749,560 (GRCm39)	missense	probably damaging	1.00
IGL01592:Ppfia2	APN	10	106,671,909 (GRCm39)	splice site	probably benign
IGL01899:Ppfia2	APN	10	106,751,612 (GRCm39)	critical splice donor site	probably null
IGL02063:Ppfia2	APN	10	106,740,706 (GRCm39)	missense	probably null	0.83
IGL02170:Ppfia2	APN	10	106,636,646 (GRCm39)	missense	probably benign
IGL02565:Ppfia2	APN	10	106,699,247 (GRCm39)	critical splice donor site	probably null
IGL02573:Ppfia2	APN	10	106,664,789 (GRCm39)	missense	probably damaging	1.00
IGL02819:Ppfia2	APN	10	106,742,255 (GRCm39)	missense	probably damaging	1.00
IGL02974:Ppfia2	APN	10	106,636,637 (GRCm39)	missense	probably benign	0.08
IGL03165:Ppfia2	APN	10	106,603,348 (GRCm39)	missense	probably damaging	1.00
IGL03255:Ppfia2	APN	10	106,732,368 (GRCm39)	missense	possibly damaging	0.76
Colorless	UTSW	10	106,749,455 (GRCm39)	missense	probably damaging	1.00
PIT4458001:Ppfia2	UTSW	10	106,763,708 (GRCm39)	missense	probably benign	0.24
R0018:Ppfia2	UTSW	10	106,678,647 (GRCm39)	splice site	probably benign
R0018:Ppfia2	UTSW	10	106,678,647 (GRCm39)	splice site	probably benign
R0323:Ppfia2	UTSW	10	106,732,281 (GRCm39)	missense	possibly damaging	0.84
R0391:Ppfia2	UTSW	10	106,666,575 (GRCm39)	splice site	probably benign
R0667:Ppfia2	UTSW	10	106,749,555 (GRCm39)	missense	probably damaging	0.97
R0782:Ppfia2	UTSW	10	106,763,592 (GRCm39)	missense	probably benign	0.32
R0905:Ppfia2	UTSW	10	106,655,372 (GRCm39)	missense	probably benign	0.43
R1401:Ppfia2	UTSW	10	106,666,518 (GRCm39)	missense	possibly damaging	0.94
R1672:Ppfia2	UTSW	10	106,666,429 (GRCm39)	missense	possibly damaging	0.53
R1723:Ppfia2	UTSW	10	106,751,533 (GRCm39)	splice site	probably null
R1780:Ppfia2	UTSW	10	106,732,368 (GRCm39)	missense	possibly damaging	0.76
R1847:Ppfia2	UTSW	10	106,763,571 (GRCm39)	missense	probably benign	0.16
R2015:Ppfia2	UTSW	10	106,310,538 (GRCm39)	missense	probably benign	0.01
R2051:Ppfia2	UTSW	10	106,673,160 (GRCm39)	missense	probably damaging	0.98
R2061:Ppfia2	UTSW	10	106,673,190 (GRCm39)	missense	possibly damaging	0.94
R2115:Ppfia2	UTSW	10	106,597,972 (GRCm39)	missense	probably damaging	1.00
R2310:Ppfia2	UTSW	10	106,690,841 (GRCm39)	missense	probably damaging	0.99
R2394:Ppfia2	UTSW	10	106,655,351 (GRCm39)	missense	probably damaging	0.99
R2656:Ppfia2	UTSW	10	106,701,268 (GRCm39)	splice site	probably null
R3113:Ppfia2	UTSW	10	106,742,256 (GRCm39)	nonsense	probably null
R3968:Ppfia2	UTSW	10	106,742,382 (GRCm39)	missense	probably damaging	0.99
R3977:Ppfia2	UTSW	10	106,666,490 (GRCm39)	missense	possibly damaging	0.69
R3978:Ppfia2	UTSW	10	106,666,490 (GRCm39)	missense	possibly damaging	0.69
R3979:Ppfia2	UTSW	10	106,666,490 (GRCm39)	missense	possibly damaging	0.69
R4567:Ppfia2	UTSW	10	106,701,267 (GRCm39)	splice site	probably null
R4632:Ppfia2	UTSW	10	106,671,905 (GRCm39)	splice site	probably null
R4718:Ppfia2	UTSW	10	106,694,146 (GRCm39)	missense	probably damaging	1.00
R4758:Ppfia2	UTSW	10	106,597,978 (GRCm39)	missense	probably damaging	1.00
R4770:Ppfia2	UTSW	10	106,597,978 (GRCm39)	missense	probably damaging	1.00
R4810:Ppfia2	UTSW	10	106,751,551 (GRCm39)	missense	probably benign	0.01
R4841:Ppfia2	UTSW	10	106,690,818 (GRCm39)	missense	probably benign	0.04
R4842:Ppfia2	UTSW	10	106,690,818 (GRCm39)	missense	probably benign	0.04
R4914:Ppfia2	UTSW	10	106,597,978 (GRCm39)	missense	probably damaging	1.00
R4916:Ppfia2	UTSW	10	106,597,978 (GRCm39)	missense	probably damaging	1.00
R4917:Ppfia2	UTSW	10	106,597,978 (GRCm39)	missense	probably damaging	1.00
R5014:Ppfia2	UTSW	10	106,701,224 (GRCm39)	nonsense	probably null
R5029:Ppfia2	UTSW	10	106,693,304 (GRCm39)	missense	probably benign	0.04
R5127:Ppfia2	UTSW	10	106,671,621 (GRCm39)	missense	probably damaging	0.99
R5357:Ppfia2	UTSW	10	106,740,708 (GRCm39)	critical splice donor site	probably null
R5420:Ppfia2	UTSW	10	106,671,562 (GRCm39)	missense	possibly damaging	0.88
R6030:Ppfia2	UTSW	10	106,742,338 (GRCm39)	missense	probably damaging	1.00
R6030:Ppfia2	UTSW	10	106,742,338 (GRCm39)	missense	probably damaging	1.00
R6135:Ppfia2	UTSW	10	106,693,430 (GRCm39)	missense	probably damaging	1.00
R6237:Ppfia2	UTSW	10	106,749,455 (GRCm39)	missense	probably damaging	1.00
R6433:Ppfia2	UTSW	10	106,749,559 (GRCm39)	missense	possibly damaging	0.94
R6457:Ppfia2	UTSW	10	106,729,361 (GRCm39)	missense	probably damaging	1.00
R6542:Ppfia2	UTSW	10	106,671,586 (GRCm39)	missense	probably damaging	0.99
R6674:Ppfia2	UTSW	10	106,763,633 (GRCm39)	missense	probably benign	0.23
R6746:Ppfia2	UTSW	10	106,742,319 (GRCm39)	nonsense	probably null
R6992:Ppfia2	UTSW	10	106,310,715 (GRCm39)	missense	possibly damaging	0.88
R7060:Ppfia2	UTSW	10	106,597,970 (GRCm39)	missense	probably damaging	1.00
R7346:Ppfia2	UTSW	10	106,693,356 (GRCm39)	missense	possibly damaging	0.79
R7453:Ppfia2	UTSW	10	106,763,691 (GRCm39)	missense	possibly damaging	0.82
R7555:Ppfia2	UTSW	10	106,763,687 (GRCm39)	missense	probably benign	0.00
R7622:Ppfia2	UTSW	10	106,666,520 (GRCm39)	missense	possibly damaging	0.86
R7637:Ppfia2	UTSW	10	106,701,264 (GRCm39)	critical splice donor site	probably null
R7866:Ppfia2	UTSW	10	106,655,390 (GRCm39)	missense	probably damaging	0.97
R7897:Ppfia2	UTSW	10	106,655,399 (GRCm39)	missense	probably damaging	0.99
R7937:Ppfia2	UTSW	10	106,699,233 (GRCm39)	missense	probably benign	0.30
R7938:Ppfia2	UTSW	10	106,310,648 (GRCm39)	missense	probably damaging	0.97
R8218:Ppfia2	UTSW	10	106,699,236 (GRCm39)	missense	probably benign	0.07
R8431:Ppfia2	UTSW	10	106,671,952 (GRCm39)	nonsense	probably null
R8806:Ppfia2	UTSW	10	106,694,114 (GRCm39)	missense	probably damaging	1.00
R8984:Ppfia2	UTSW	10	106,694,439 (GRCm39)	intron	probably benign
R9008:Ppfia2	UTSW	10	106,655,220 (GRCm39)	missense	probably benign	0.00
R9014:Ppfia2	UTSW	10	106,763,666 (GRCm39)	missense	probably benign	0.05
R9182:Ppfia2	UTSW	10	106,763,640 (GRCm39)	missense	probably benign	0.39
R9201:Ppfia2	UTSW	10	106,678,640 (GRCm39)	critical splice donor site	probably null
R9249:Ppfia2	UTSW	10	106,749,429 (GRCm39)	missense	probably damaging	1.00
R9620:Ppfia2	UTSW	10	106,749,519 (GRCm39)	missense
R9710:Ppfia2	UTSW	10	106,664,885 (GRCm39)	missense	probably benign	0.00
X0021:Ppfia2	UTSW	10	106,310,538 (GRCm39)	missense	probably benign	0.06
X0022:Ppfia2	UTSW	10	106,729,295 (GRCm39)	missense	probably damaging	1.00
Z1176:Ppfia2	UTSW	10	106,310,506 (GRCm39)	missense	probably damaging	0.97
Z1177:Ppfia2	UTSW	10	106,742,416 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16