Mutagenetix > Incidental Mutation

Incidental Mutation 'R5029:Ppfia2'

391568

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

042620-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5029 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106305129-106769329 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 106693304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 603 (T603N)

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: T603N

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000029404
Gene: ENSMUSG00000053825
AA Change: T603N

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: T603N

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

Meta Mutation Damage Score

0.0805

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

97% (61/63)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,392,127 (GRCm39)	M154K	probably benign	Het
Ank	T	C	15: 27,590,439 (GRCm39)	V341A	probably benign	Het
Bnip3	T	A	7: 138,499,848 (GRCm39)		probably benign	Het
C1galt1	A	G	6: 7,863,931 (GRCm39)	K4E	possibly damaging	Het
Cbs	T	A	17: 31,834,456 (GRCm39)	Q511L	possibly damaging	Het
Ccdc117	T	C	11: 5,484,897 (GRCm39)	H109R	possibly damaging	Het
Cdh4	T	A	2: 179,523,742 (GRCm39)	V440D	possibly damaging	Het
Cnot4	T	C	6: 35,054,962 (GRCm39)	N109S	probably damaging	Het
Dact2	A	T	17: 14,416,114 (GRCm39)	S695R	probably benign	Het
Defa21	A	T	8: 21,516,381 (GRCm39)	E75V	probably damaging	Het
Dimt1	A	G	13: 107,093,630 (GRCm39)	D274G	probably null	Het
Dstyk	G	T	1: 132,377,062 (GRCm39)	V223L	probably benign	Het
Dync1h1	T	A	12: 110,584,444 (GRCm39)	S616T	possibly damaging	Het
Fer1l6	A	T	15: 58,515,769 (GRCm39)	I1619F	probably benign	Het
Gm4744	T	A	6: 40,926,341 (GRCm39)	Y83F	probably null	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Hpx	T	G	7: 105,240,971 (GRCm39)	Y434S	probably damaging	Het
Ints4	A	G	7: 97,158,981 (GRCm39)	D451G	probably benign	Het
Itgb4	A	T	11: 115,879,417 (GRCm39)		probably benign	Het
Jph1	T	A	1: 17,161,615 (GRCm39)	N349I	possibly damaging	Het
Klrg1	A	G	6: 122,259,694 (GRCm39)	L26P	probably benign	Het
M1ap	A	C	6: 82,980,813 (GRCm39)	D233A	probably damaging	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Mycbp2	A	G	14: 103,393,946 (GRCm39)	S2762P	probably benign	Het
Myh11	T	A	16: 14,023,489 (GRCm39)	Q1556L	probably damaging	Het
N4bp2	A	G	5: 65,972,123 (GRCm39)	D1428G	probably damaging	Het
Ndc80	A	C	17: 71,815,760 (GRCm39)	C342G	probably benign	Het
Nxn	A	C	11: 76,165,356 (GRCm39)	Y199*	probably null	Het
Or6c206	T	A	10: 129,097,707 (GRCm39)	N292K	probably benign	Het
Or7c19	C	T	8: 85,957,835 (GRCm39)	A237V	probably benign	Het
Or8j3b	A	G	2: 86,205,234 (GRCm39)	I174T	probably damaging	Het
Pacs1	A	G	19: 5,192,299 (GRCm39)	F691L	probably benign	Het
Pcdhga12	T	C	18: 37,899,864 (GRCm39)	V232A	probably benign	Het
Pik3cb	A	T	9: 98,936,113 (GRCm39)	M773K	probably damaging	Het
Plxnb1	T	C	9: 108,943,723 (GRCm39)	Y1937H	probably damaging	Het
Psg22	A	G	7: 18,453,662 (GRCm39)	Y119C	probably damaging	Het
Saraf	G	T	8: 34,628,412 (GRCm39)	R86L	probably damaging	Het
Sh3bgrl2	T	C	9: 83,430,542 (GRCm39)	S11P	possibly damaging	Het
Slc39a4	C	T	15: 76,498,283 (GRCm39)	D385N	probably damaging	Het
St13	G	C	15: 81,283,786 (GRCm39)	R4G	probably benign	Het
Stpg3	T	C	2: 25,104,576 (GRCm39)	N13S	probably damaging	Het
Taf1a	T	A	1: 183,177,273 (GRCm39)	D50E	possibly damaging	Het
Tlr1	T	A	5: 65,083,024 (GRCm39)	N518Y	probably damaging	Het
Tnik	G	A	3: 28,719,993 (GRCm39)		probably null	Het
Tomm70a	T	A	16: 56,942,514 (GRCm39)	L97Q	probably benign	Het
Vmn2r97	T	A	17: 19,168,173 (GRCm39)	V809E	probably damaging	Het
Vps13d	T	C	4: 144,882,852 (GRCm39)	I914V	probably benign	Het
Zfyve26	A	T	12: 79,333,097 (GRCm39)	H291Q	probably damaging	Het
Zmynd15	G	T	11: 70,353,387 (GRCm39)	C334F	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
IGL02143:Ppfia2	APN	10	106,693,360 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGCTTGCACTTCATAGGATGTC -3'
(R):5'- CCAGGAGATGCTAAGCCTAATATTTTG -3'

Sequencing Primer
(F):5'- AGCTGTGAAGGCATGCA -3'
(R):5'- GCTGTTAACACAATCAGTATCGATAC -3'

Posted On

2016-06-06