Mutagenetix > Incidental Mutation

Incidental Mutation 'R7622:Ppfia2'

589208

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

045717-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7622 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106305129-106769329 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106666520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 409 (V409I)

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: V409I

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000029404
Gene: ENSMUSG00000053825
AA Change: V409I

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

possibly damaging
Transcript: ENSMUST00000217854
AA Change: V409I

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

Meta Mutation Damage Score

0.1178

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (55/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	G	A	5: 129,216,688 (GRCm39)	D384N	probably benign	Het
Aqp8	T	C	7: 123,065,883 (GRCm39)	F226S	possibly damaging	Het
Arl6ip6	A	G	2: 53,107,339 (GRCm39)	Y207C	probably damaging	Het
Bltp1	C	A	3: 37,002,562 (GRCm39)	C1502*	probably null	Het
Cbfa2t2	A	G	2: 154,342,365 (GRCm39)	E27G	possibly damaging	Het
Cdc42bpb	T	G	12: 111,261,206 (GRCm39)	E201A	unknown	Het
Cfap54	A	C	10: 92,792,806 (GRCm39)	V1769G	unknown	Het
Dmxl2	C	T	9: 54,379,502 (GRCm39)	G7S	probably damaging	Het
Dnah6	G	T	6: 73,101,742 (GRCm39)	F1927L	possibly damaging	Het
Dnajc6	A	G	4: 101,497,688 (GRCm39)	E942G	probably damaging	Het
Fam170a	A	G	18: 50,415,969 (GRCm39)	R324G	probably benign	Het
Gapdhs	G	A	7: 30,438,756 (GRCm39)	T9I	unknown	Het
Gm10320	T	A	13: 98,626,232 (GRCm39)	R51*	probably null	Het
Gm19410	A	T	8: 36,277,501 (GRCm39)	T1776S	possibly damaging	Het
Gm4846	A	T	1: 166,323,441 (GRCm39)	M94K	possibly damaging	Het
Ighv2-5	G	A	12: 113,649,358 (GRCm39)	Q32*	probably null	Het
Klc2	T	C	19: 5,161,660 (GRCm39)	E310G	probably damaging	Het
Krt75	A	G	15: 101,478,707 (GRCm39)	M309T	probably damaging	Het
Lrp11	G	A	10: 7,465,936 (GRCm39)	G41R	unknown	Het
Lrrc52	G	T	1: 167,293,664 (GRCm39)	P207Q	probably benign	Het
Lrrc52	G	T	1: 167,293,665 (GRCm39)	P207T	probably benign	Het
Lrrk2	A	T	15: 91,696,526 (GRCm39)	D2438V	probably damaging	Het
Mycbp	C	T	4: 123,799,094 (GRCm39)	T28M	probably damaging	Het
Myh14	A	G	7: 44,281,846 (GRCm39)	V804A	probably benign	Het
Myo16	A	G	8: 10,426,238 (GRCm39)	I332V	unknown	Het
Ncor1	G	T	11: 62,208,794 (GRCm39)	Q1359K	probably benign	Het
Oog3	T	C	4: 143,884,889 (GRCm39)	D349G	probably benign	Het
Or12e1	A	T	2: 87,022,594 (GRCm39)	I188L	probably benign	Het
Or1j21	A	G	2: 36,683,943 (GRCm39)	K232E	probably benign	Het
Or52b4i	A	G	7: 102,191,830 (GRCm39)	H229R	probably benign	Het
Or8k53	A	G	2: 86,178,006 (GRCm39)	Y35H	possibly damaging	Het
Pate4	A	G	9: 35,519,595 (GRCm39)	S32P	possibly damaging	Het
Pcdhb7	A	C	18: 37,475,514 (GRCm39)	S217R	probably benign	Het
Pde1c	G	A	6: 56,103,910 (GRCm39)	R580C	probably damaging	Het
Pi4ka	C	A	16: 17,111,841 (GRCm39)	A1545S		Het
Pign	G	T	1: 105,575,842 (GRCm39)	T266K	possibly damaging	Het
Pitpnm2	A	G	5: 124,260,090 (GRCm39)	I1134T	probably benign	Het
Prr7	A	G	13: 55,620,609 (GRCm39)	T206A	probably benign	Het
Rnf13	A	T	3: 57,727,955 (GRCm39)	R212*	probably null	Het
Rwdd2b	T	C	16: 87,231,500 (GRCm39)	N218S	probably benign	Het
Serpina3m	A	G	12: 104,355,834 (GRCm39)	D167G	possibly damaging	Het
Slit2	A	T	5: 48,142,547 (GRCm39)	N56Y	probably damaging	Het
Sprr3	G	T	3: 92,364,592 (GRCm39)	T84K	probably damaging	Het
Stab2	A	T	10: 86,709,766 (GRCm39)	H1626Q	possibly damaging	Het
Tex2	C	A	11: 106,437,721 (GRCm39)	D650Y	unknown	Het
Tmprss6	A	G	15: 78,330,926 (GRCm39)	S436P	probably benign	Het
Uba2	A	C	7: 33,864,860 (GRCm39)	F63L	probably damaging	Het
Ubxn2b	C	T	4: 6,214,692 (GRCm39)	S242L	probably damaging	Het
Vmn1r86	T	G	7: 12,836,685 (GRCm39)	I64L	probably benign	Het
Vmn2r67	A	T	7: 84,785,662 (GRCm39)	V781E	probably damaging	Het
Vmn2r80	T	A	10: 79,030,097 (GRCm39)	F641Y	probably damaging	Het
Wdfy4	A	T	14: 32,800,231 (GRCm39)	I1965K		Het
Wdr25	G	A	12: 108,958,819 (GRCm39)	G344S	possibly damaging	Het
Wdr90	G	T	17: 26,073,083 (GRCm39)	F837L	probably benign	Het
Xpo4	A	G	14: 57,834,468 (GRCm39)	V704A	possibly damaging	Het
Zc3h12d	A	G	10: 7,743,033 (GRCm39)	K268E	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
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
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'- AAGTACAGAGTTCATAGACTTGCTC -3'
(R):5'- AGGCAAGGATATCTTCTTACTCATG -3'

Sequencing Primer
(F):5'- AGAGTTCATAGACTTGCTCTAACTCC -3'
(R):5'- TCATGTAACAATCATTCAAGTCACAG -3'

Posted On

2019-10-24