Mutagenetix > Incidental Mutation

Incidental Mutation 'R6542:Ppfia2'

520862

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

044668-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6542 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106305129-106769329 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106671586 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 432 (E432D)

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: E432D

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000029404
Gene: ENSMUSG00000053825
AA Change: E432D

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: E432D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (47/48)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 77,030,902 (GRCm39)	L566Q	probably damaging	Het
Apbb1ip	C	T	2: 22,764,972 (GRCm39)	T551I	probably benign	Het
Aqp5	A	G	15: 99,492,143 (GRCm39)	E247G	probably damaging	Het
Bdkrb1	T	C	12: 105,571,352 (GRCm39)	F306S	probably damaging	Het
Clca3a1	C	T	3: 144,465,021 (GRCm39)	V71I	probably benign	Het
Cog4	A	G	8: 111,577,994 (GRCm39)	D36G	probably damaging	Het
Ctbp1	A	G	5: 33,426,915 (GRCm39)		probably benign	Het
Dync1li2	C	T	8: 105,169,396 (GRCm39)	G13D	probably benign	Het
F5	T	C	1: 164,022,037 (GRCm39)	V1504A	probably benign	Het
Fancm	T	C	12: 65,144,203 (GRCm39)	L555P	probably damaging	Het
Fgfr2	A	T	7: 129,802,853 (GRCm39)	S152T	probably benign	Het
Fign	A	T	2: 63,810,639 (GRCm39)	H210Q	possibly damaging	Het
Hbs1l	A	G	10: 21,180,516 (GRCm39)	N66S	probably benign	Het
Ighv12-3	A	T	12: 114,330,435 (GRCm39)	M20K	probably benign	Het
Isoc2b	T	C	7: 4,854,454 (GRCm39)	K26E	probably damaging	Het
Katnal1	C	T	5: 148,813,016 (GRCm39)	A467T	probably benign	Het
Loxl3	A	G	6: 83,025,147 (GRCm39)	T292A	probably benign	Het
Map3k9	A	G	12: 81,769,028 (GRCm39)	S1007P	possibly damaging	Het
Mcur1	A	T	13: 43,705,134 (GRCm39)	V174D	probably damaging	Het
Metrnl	A	C	11: 121,593,704 (GRCm39)		probably null	Het
Midn	A	G	10: 79,992,418 (GRCm39)	D490G	probably damaging	Het
Mmp10	G	A	9: 7,506,513 (GRCm39)	A330T	probably benign	Het
Mto1	T	A	9: 78,364,510 (GRCm39)	C281S	possibly damaging	Het
Nek10	A	G	14: 14,999,108 (GRCm38)	I1036V	probably benign	Het
Odad1	G	T	7: 45,597,814 (GRCm39)	A575S	probably benign	Het
Or13c7c	A	C	4: 43,835,686 (GRCm39)	L268R	probably benign	Het
Or1ab2	T	C	8: 72,863,715 (GRCm39)	F102L	probably damaging	Het
Or2b7	T	C	13: 21,739,677 (GRCm39)	T172A	probably damaging	Het
Or8b48	C	A	9: 38,450,733 (GRCm39)	L181I	probably benign	Het
Parp4	A	C	14: 56,885,339 (GRCm39)	I1473L	unknown	Het
Pcdhb9	A	G	18: 37,534,642 (GRCm39)	Y212C	probably damaging	Het
Pilra	G	T	5: 137,820,237 (GRCm39)		probably null	Het
Pkhd1	A	G	1: 20,655,927 (GRCm39)	I202T	probably benign	Het
Prom1	T	C	5: 44,194,851 (GRCm39)	D298G	possibly damaging	Het
Prr22	T	A	17: 57,077,527 (GRCm39)		probably null	Het
Septin2	T	A	1: 93,425,188 (GRCm39)		probably null	Het
Setdb1	C	A	3: 95,247,618 (GRCm39)	V426L	probably damaging	Het
Slc8b1	C	T	5: 120,667,582 (GRCm39)	A405V	probably damaging	Het
Srrm1	G	A	4: 135,068,237 (GRCm39)	R279*	probably null	Het
Ssh2	C	G	11: 77,340,976 (GRCm39)	D709E	possibly damaging	Het
Tmprss9	A	G	10: 80,724,389 (GRCm39)	D373G	probably damaging	Het
Trpm3	T	C	19: 22,903,477 (GRCm39)	L921S	probably benign	Het
Ubqln3	T	C	7: 103,790,824 (GRCm39)	N422S	probably benign	Het
Vmn2r105	C	T	17: 20,448,803 (GRCm39)	V125I	probably benign	Het
Vmn2r69	A	T	7: 85,060,413 (GRCm39)	Y390*	probably null	Het
Zcwpw1	T	C	5: 137,810,282 (GRCm39)	F353L	probably damaging	Het
Zfp462	G	A	4: 55,023,433 (GRCm39)	C987Y	probably damaging	Het
Zkscan4	A	G	13: 21,668,508 (GRCm39)	S320G	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
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
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'- TGTTCAGCTGCCTGTTTAAAG -3'
(R):5'- TCTGTCAGAAGCCTGTCCAC -3'

Sequencing Primer
(F):5'- GCTGCCTGTTTAAAGAAAGTTTATG -3'
(R):5'- GTCAGAAGCCTGTCCACCGTATC -3'

Posted On

2018-06-06