Mutagenetix > Incidental Mutation

Incidental Mutation 'R2394:Ppfia2'

247920

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

040362-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2394 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106305129-106769329 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106655351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 306 (E306G)

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: E306G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029404
Gene: ENSMUSG00000053825
AA Change: E306G

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: E306G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Meta Mutation Damage Score

0.0754

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (41/41)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L13Rik	A	T	7: 29,980,053 (GRCm39)		probably benign	Het
Abca17	T	C	17: 24,500,190 (GRCm39)		probably null	Het
Atxn7	T	C	14: 14,100,237 (GRCm38)	V641A	probably damaging	Het
C3	G	A	17: 57,529,303 (GRCm39)	Q30*	probably null	Het
Ccdc162	A	G	10: 41,445,894 (GRCm39)	I426T	probably damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Cwc27	A	C	13: 104,932,942 (GRCm39)	D253E	probably benign	Het
Cyp1a1	T	A	9: 57,607,432 (GRCm39)	V20D	probably benign	Het
Dmbt1	T	A	7: 130,696,464 (GRCm39)	Y892*	probably null	Het
Dnhd1	T	A	7: 105,369,438 (GRCm39)	Y4354N	probably benign	Het
Dync2li1	T	A	17: 84,952,175 (GRCm39)	I202K	possibly damaging	Het
Dyrk1a	T	A	16: 94,485,991 (GRCm39)	V446E	probably benign	Het
Efcab3	C	A	11: 104,629,121 (GRCm39)	T933K	probably benign	Het
Fam186b	T	C	15: 99,178,058 (GRCm39)	I423V	probably benign	Het
Gm5108	T	C	5: 68,132,475 (GRCm39)		probably benign	Het
Htr3a	A	G	9: 48,817,643 (GRCm39)	V110A	probably benign	Het
Itsn2	C	A	12: 4,757,005 (GRCm39)	S1365Y	possibly damaging	Het
Lrrc46	T	C	11: 96,929,657 (GRCm39)	I60V	probably damaging	Het
Mtrex	A	T	13: 113,019,702 (GRCm39)	Y803N	probably benign	Het
Nlrp14	T	C	7: 106,797,031 (GRCm39)	V307A	probably benign	Het
Nt5c2	A	G	19: 46,878,506 (GRCm39)		probably null	Het
Obox2	C	T	7: 15,130,935 (GRCm39)	P56S	possibly damaging	Het
Olfml2b	A	G	1: 170,477,319 (GRCm39)	I151M	possibly damaging	Het
Oog3	T	A	4: 143,885,884 (GRCm39)	D238V	probably benign	Het
Pde11a	T	C	2: 75,889,405 (GRCm39)	T690A	probably benign	Het
Ppa1	A	G	10: 61,508,163 (GRCm39)		probably benign	Het
Ppic	G	A	18: 53,544,119 (GRCm39)	R89C	probably damaging	Het
Ptprk	T	G	10: 28,427,713 (GRCm39)	I764S	probably damaging	Het
Ripk2	T	C	4: 16,132,774 (GRCm39)		probably benign	Het
Rnf123	A	G	9: 107,940,735 (GRCm39)	M702T	probably benign	Het
Slco1b2	T	C	6: 141,615,100 (GRCm39)	I335T	probably damaging	Het
Ssbp1	T	A	6: 40,453,743 (GRCm39)	D96E	probably benign	Het
Tpp2	T	A	1: 44,022,346 (GRCm39)	S915T	possibly damaging	Het
Unc5c	A	T	3: 141,383,892 (GRCm39)	Q90L	probably damaging	Het
Vmn2r57	A	G	7: 41,049,619 (GRCm39)	I710T	possibly damaging	Het
Wdr90	G	A	17: 26,070,429 (GRCm39)	P1104L	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
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

Predicted Primers

PCR Primer
(F):5'- AAGAAGATCCTAAGTGCCATGC -3'
(R):5'- AACCATTTCTGTCTTCCTGAACAG -3'

Sequencing Primer
(F):5'- GAAGATCCTAAGTGCCATGCTTTTG -3'
(R):5'- CAACCCTAATTATGGTCTTCAAGAAG -3'

Posted On

2014-11-11