Mutagenetix > Incidental Mutation

Incidental Mutation 'R6992:Ppfia2'

543916

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6992 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106470339-106935952 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106474854 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 74 (Q74L)

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: Q74L

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000029404
Gene: ENSMUSG00000053825
AA Change: Q74L

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: Q74L

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (64/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700057G04Rik	T	C	9: 92,354,672	M128T	probably benign	Het
4921539E11Rik	C	T	4: 103,242,793	S171N	possibly damaging	Het
6030468B19Rik	T	G	11: 117,797,768	M1R	probably null	Het
9530053A07Rik	T	A	7: 28,140,183	F474I	probably benign	Het
A730049H05Rik	T	C	6: 92,827,994		probably benign	Het
AC125199.3	G	T	16: 88,812,027	H52Q	possibly damaging	Het
Adam34	A	T	8: 43,652,605	M1K	probably null	Het
Adgrf5	T	C	17: 43,452,323		probably null	Het
Antxr2	T	C	5: 97,960,705	T316A	probably benign	Het
Cc2d1a	A	T	8: 84,134,913	V714D	probably damaging	Het
Cd96	A	G	16: 46,049,724	S461P	possibly damaging	Het
Cdc16	C	A	8: 13,759,188	A51E	probably benign	Het
Chd4	T	A	6: 125,114,376	D1243E	probably benign	Het
Cntf	A	T	19: 12,765,333	I21N	probably damaging	Het
Col11a2	C	T	17: 34,047,144	A282V	probably benign	Het
Col14a1	T	A	15: 55,411,562		probably null	Het
Cyp2b9	T	C	7: 26,201,139	Y401H	probably benign	Het
Dlgap4	A	G	2: 156,748,940		probably null	Het
Fancd2	T	C	6: 113,571,018		probably null	Het
Frem1	A	G	4: 82,940,362	V1622A	possibly damaging	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,649,576		probably benign	Het
Gstm4	A	G	3: 108,044,665	M3T	possibly damaging	Het
Hdac10	T	C	15: 89,125,331	D466G	probably benign	Het
Hook2	A	G	8: 85,002,556	E625G	probably damaging	Het
Hspbp1	G	C	7: 4,664,715	P260A	probably benign	Het
Igdcc3	C	A	9: 65,181,571	Q411K	probably damaging	Het
Il18rap	G	A	1: 40,542,035	E356K	probably benign	Het
Inpp4a	A	T	1: 37,389,691	M699L	probably damaging	Het
Klhdc1	A	G	12: 69,253,757	H157R	probably damaging	Het
Klhl6	G	T	16: 19,953,587	T336N	probably damaging	Het
March7	T	C	2: 60,229,084		probably null	Het
Mast4	C	T	13: 102,804,647	V301I	probably damaging	Het
Mlh3	T	A	12: 85,235,720	N1412Y	probably damaging	Het
Mrps27	A	G	13: 99,405,014	M209V	probably benign	Het
Mtor	A	T	4: 148,464,475	T572S	probably benign	Het
Neurog1	T	C	13: 56,251,550	K128R	probably damaging	Het
Olfr124	T	A	17: 37,805,863	N239K	probably damaging	Het
Olfr1484	A	G	19: 13,585,447	I48V	possibly damaging	Het
Olfr981	T	A	9: 40,022,600	L69*	probably null	Het
Pcdhgb1	A	G	18: 37,681,599	K381R	probably benign	Het
Pdzd2	T	C	15: 12,457,859	D306G	probably damaging	Het
Plekha5	C	T	6: 140,543,908	T237I	probably damaging	Het
Pole	A	T	5: 110,332,499	I103F	probably damaging	Het
Ppm1d	T	C	11: 85,332,352	F261S	probably damaging	Het
Psg21	A	T	7: 18,654,743		probably null	Het
Ptprg	T	A	14: 11,962,602	F133L	probably damaging	Het
Rom1	G	A	19: 8,929,205		probably benign	Het
Rtn3	A	G	19: 7,435,124	F762L	probably damaging	Het
Sec23ip	T	C	7: 128,765,440	S600P	probably benign	Het
Sema4b	T	A	7: 80,220,152	I396N	probably damaging	Het
Serpina3k	T	A	12: 104,341,107	D199E	probably benign	Het
Slc19a1	A	G	10: 77,049,706	D480G	possibly damaging	Het
Slc8b1	G	A	5: 120,527,815	V404M	probably damaging	Het
Slco1a4	T	C	6: 141,819,604	D304G	probably benign	Het
Smpdl3b	G	T	4: 132,745,141	A107D	possibly damaging	Het
Tesk1	A	G	4: 43,447,006	T465A	probably benign	Het
Tmem245	A	G	4: 56,937,940	F203L	probably benign	Het
Tnip1	T	A	11: 54,918,716	I442F	probably benign	Het
Txnip	A	G	3: 96,559,123	K127R	possibly damaging	Het
Usp32	A	C	11: 85,032,088	L172R	probably damaging	Het
Vmn2r66	A	G	7: 85,005,228	S508P	possibly damaging	Het
Vwa5b2	T	A	16: 20,598,202	Y550N	probably damaging	Het
Wdr81	G	A	11: 75,451,786	A885V	probably benign	Het

Other mutations in Ppfia2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Ppfia2	APN	10	106819492	missense	probably benign	0.25
IGL01296:Ppfia2	APN	10	106858207	missense	probably damaging	0.98
IGL01385:Ppfia2	APN	10	106913699	missense	probably damaging	1.00
IGL01592:Ppfia2	APN	10	106836048	splice site	probably benign
IGL01899:Ppfia2	APN	10	106915751	critical splice donor site	probably null
IGL02063:Ppfia2	APN	10	106904845	missense	probably null	0.83
IGL02143:Ppfia2	APN	10	106857499	missense	probably damaging	1.00
IGL02170:Ppfia2	APN	10	106800785	missense	probably benign
IGL02565:Ppfia2	APN	10	106863386	critical splice donor site	probably null
IGL02573:Ppfia2	APN	10	106828928	missense	probably damaging	1.00
IGL02819:Ppfia2	APN	10	106906394	missense	probably damaging	1.00
IGL02974:Ppfia2	APN	10	106800776	missense	probably benign	0.08
IGL03165:Ppfia2	APN	10	106767487	missense	probably damaging	1.00
IGL03255:Ppfia2	APN	10	106896507	missense	possibly damaging	0.76
Colorless	UTSW	10	106913594	missense	probably damaging	1.00
PIT4458001:Ppfia2	UTSW	10	106927847	missense	probably benign	0.24
R0018:Ppfia2	UTSW	10	106842786	splice site	probably benign
R0018:Ppfia2	UTSW	10	106842786	splice site	probably benign
R0323:Ppfia2	UTSW	10	106896420	missense	possibly damaging	0.84
R0391:Ppfia2	UTSW	10	106830714	splice site	probably benign
R0667:Ppfia2	UTSW	10	106913694	missense	probably damaging	0.97
R0782:Ppfia2	UTSW	10	106927731	missense	probably benign	0.32
R0905:Ppfia2	UTSW	10	106819511	missense	probably benign	0.43
R1401:Ppfia2	UTSW	10	106830657	missense	possibly damaging	0.94
R1672:Ppfia2	UTSW	10	106830568	missense	possibly damaging	0.53
R1723:Ppfia2	UTSW	10	106915672	splice site	probably null
R1780:Ppfia2	UTSW	10	106896507	missense	possibly damaging	0.76
R1847:Ppfia2	UTSW	10	106927710	missense	probably benign	0.16
R2015:Ppfia2	UTSW	10	106474677	missense	probably benign	0.01
R2051:Ppfia2	UTSW	10	106837299	missense	probably damaging	0.98
R2061:Ppfia2	UTSW	10	106837329	missense	possibly damaging	0.94
R2115:Ppfia2	UTSW	10	106762111	missense	probably damaging	1.00
R2310:Ppfia2	UTSW	10	106854980	missense	probably damaging	0.99
R2394:Ppfia2	UTSW	10	106819490	missense	probably damaging	0.99
R2656:Ppfia2	UTSW	10	106865407	splice site	probably null
R3113:Ppfia2	UTSW	10	106906395	nonsense	probably null
R3968:Ppfia2	UTSW	10	106906521	missense	probably damaging	0.99
R3977:Ppfia2	UTSW	10	106830629	missense	possibly damaging	0.69
R3978:Ppfia2	UTSW	10	106830629	missense	possibly damaging	0.69
R3979:Ppfia2	UTSW	10	106830629	missense	possibly damaging	0.69
R4567:Ppfia2	UTSW	10	106865406	splice site	probably null
R4632:Ppfia2	UTSW	10	106836044	splice site	probably null
R4718:Ppfia2	UTSW	10	106858285	missense	probably damaging	1.00
R4758:Ppfia2	UTSW	10	106762117	missense	probably damaging	1.00
R4770:Ppfia2	UTSW	10	106762117	missense	probably damaging	1.00
R4810:Ppfia2	UTSW	10	106915690	missense	probably benign	0.01
R4841:Ppfia2	UTSW	10	106854957	missense	probably benign	0.04
R4842:Ppfia2	UTSW	10	106854957	missense	probably benign	0.04
R4914:Ppfia2	UTSW	10	106762117	missense	probably damaging	1.00
R4916:Ppfia2	UTSW	10	106762117	missense	probably damaging	1.00
R4917:Ppfia2	UTSW	10	106762117	missense	probably damaging	1.00
R5014:Ppfia2	UTSW	10	106865363	nonsense	probably null
R5029:Ppfia2	UTSW	10	106857443	missense	probably benign	0.04
R5127:Ppfia2	UTSW	10	106835760	missense	probably damaging	0.99
R5357:Ppfia2	UTSW	10	106904847	critical splice donor site	probably null
R5420:Ppfia2	UTSW	10	106835701	missense	possibly damaging	0.88
R6030:Ppfia2	UTSW	10	106906477	missense	probably damaging	1.00
R6030:Ppfia2	UTSW	10	106906477	missense	probably damaging	1.00
R6135:Ppfia2	UTSW	10	106857569	missense	probably damaging	1.00
R6237:Ppfia2	UTSW	10	106913594	missense	probably damaging	1.00
R6433:Ppfia2	UTSW	10	106913698	missense	possibly damaging	0.94
R6457:Ppfia2	UTSW	10	106893500	missense	probably damaging	1.00
R6542:Ppfia2	UTSW	10	106835725	missense	probably damaging	0.99
R6674:Ppfia2	UTSW	10	106927772	missense	probably benign	0.23
R6746:Ppfia2	UTSW	10	106906458	nonsense	probably null
R7060:Ppfia2	UTSW	10	106762109	missense	probably damaging	1.00
R7346:Ppfia2	UTSW	10	106857495	missense	possibly damaging	0.79
R7453:Ppfia2	UTSW	10	106927830	missense	possibly damaging	0.82
R7555:Ppfia2	UTSW	10	106927826	missense	probably benign	0.00
R7622:Ppfia2	UTSW	10	106830659	missense	possibly damaging	0.86
R7637:Ppfia2	UTSW	10	106865403	critical splice donor site	probably null
R7866:Ppfia2	UTSW	10	106819529	missense	probably damaging	0.97
R7897:Ppfia2	UTSW	10	106819538	missense	probably damaging	0.99
R7937:Ppfia2	UTSW	10	106863372	missense	probably benign	0.30
R7938:Ppfia2	UTSW	10	106474787	missense	probably damaging	0.97
R8218:Ppfia2	UTSW	10	106863375	missense	probably benign	0.07
R8431:Ppfia2	UTSW	10	106836091	nonsense	probably null
R8806:Ppfia2	UTSW	10	106858253	missense	probably damaging	1.00
R8984:Ppfia2	UTSW	10	106858578	intron	probably benign
R9008:Ppfia2	UTSW	10	106819359	missense	probably benign	0.00
R9014:Ppfia2	UTSW	10	106927805	missense	probably benign	0.05
R9182:Ppfia2	UTSW	10	106927779	missense	probably benign	0.39
R9201:Ppfia2	UTSW	10	106842779	critical splice donor site	probably null
R9249:Ppfia2	UTSW	10	106913568	missense	probably damaging	1.00
R9620:Ppfia2	UTSW	10	106913658	missense
R9710:Ppfia2	UTSW	10	106829024	missense	probably benign	0.00
X0021:Ppfia2	UTSW	10	106474677	missense	probably benign	0.06
X0022:Ppfia2	UTSW	10	106893434	missense	probably damaging	1.00
Z1176:Ppfia2	UTSW	10	106474645	missense	probably damaging	0.97
Z1177:Ppfia2	UTSW	10	106906555	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGTGAAGTGATGCCCAC -3'
(R):5'- CAGATTTTGTACAAGGGAAAGTTGG -3'

Sequencing Primer
(F):5'- TGATGCCCACGATTAACGAG -3'
(R):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'

Posted On

2019-05-13