Mutagenetix > Incidental Mutation

Incidental Mutation 'R9803:Ppfia3'

735317

Institutional Source

Beutler Lab

Gene Symbol

Ppfia3

Ensembl Gene

ENSMUSG00000003863

Gene Name

protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.288) question?

Stock #

R9803 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45339122-45367019 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45341115 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1080 (Y1080C)

Ref Sequence

ENSEMBL: ENSMUSP00000003961 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003961] [ENSMUST00000085351] [ENSMUST00000210248] [ENSMUST00000211067] [ENSMUST00000211327]

AlphaFold

P60469

Predicted Effect

probably benign
Transcript: ENSMUST00000003961
AA Change: Y1080C

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000003961
Gene: ENSMUSG00000003863
AA Change: Y1080C

Domain	Start	End	E-Value	Type
coiled coil region	27	129	N/A	INTRINSIC
coiled coil region	167	426	N/A	INTRINSIC
coiled coil region	448	500	N/A	INTRINSIC
low complexity region	534	550	N/A	INTRINSIC
coiled coil region	597	642	N/A	INTRINSIC
low complexity region	651	672	N/A	INTRINSIC
low complexity region	707	719	N/A	INTRINSIC
SAM	835	904	1.46e-10	SMART
SAM	950	1017	8.22e-5	SMART
SAM	1038	1110	3.58e-5	SMART
low complexity region	1156	1169	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000085351

SMART Domains

Protein: ENSMUSP00000082459
Gene: ENSMUSG00000038239

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	32	45	N/A	INTRINSIC
internal_repeat_1	51	146	8.76e-11	PROSPERO
low complexity region	154	189	N/A	INTRINSIC
Pfam:Hist_rich_Ca-bd	213	225	1e-4	PFAM
low complexity region	240	254	N/A	INTRINSIC
low complexity region	260	274	N/A	INTRINSIC
low complexity region	287	304	N/A	INTRINSIC
Pfam:Hist_rich_Ca-bd	308	324	2.2e-8	PFAM
low complexity region	340	353	N/A	INTRINSIC
low complexity region	362	382	N/A	INTRINSIC
internal_repeat_1	399	490	8.76e-11	PROSPERO
coiled coil region	536	565	N/A	INTRINSIC
low complexity region	571	582	N/A	INTRINSIC
coiled coil region	594	621	N/A	INTRINSIC
low complexity region	632	648	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000210248
AA Change: Y920C

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000211067
AA Change: Y1080C

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000211327

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

Validation Efficiency

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. Liprin family protein has been shown to localize phosphatase LAR to cell focal adhesions and may be involved in the molecular organization of presynaptic active zones. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	G	5: 113,703,903	S52P	unknown	Het
Ank2	A	G	3: 126,959,077	M330T	possibly damaging	Het
Ankar	C	T	1: 72,659,181	V905I	possibly damaging	Het
Anln	G	T	9: 22,372,222	D438E	probably damaging	Het
C1ql3	T	C	2: 13,004,389	N215S	probably damaging	Het
Ccdc110	A	G	8: 45,942,589	S506G	probably benign	Het
Ccdc87	A	G	19: 4,841,147	T556A	probably benign	Het
Cma1	A	T	14: 55,941,729	N236K	probably benign	Het
Csmd2	T	C	4: 128,369,193	F724S		Het
Cts8	T	C	13: 61,253,322	K130R	possibly damaging	Het
Daam1	A	T	12: 71,944,148	T179S	unknown	Het
Fancd2os	T	C	6: 113,597,977	T23A	possibly damaging	Het
Gbgt1	T	A	2: 28,504,854	I168N	probably damaging	Het
Gckr	G	A	5: 31,300,024	G127D	probably damaging	Het
Gm11444	G	A	11: 85,846,873	Q164*	probably null	Het
Gm28042	T	A	2: 120,038,503	V526E	possibly damaging	Het
Gm8947	T	C	1: 151,192,971	V185A	possibly damaging	Het
Hoxd13	C	A	2: 74,668,903	H198Q	possibly damaging	Het
Hps6	T	A	19: 46,005,508	L628*	probably null	Het
Igha	G	A	12: 113,259,139	H221Y		Het
Ighm	A	G	12: 113,419,015	S453P		Het
Inpp5f	A	C	7: 128,676,791	D435A	possibly damaging	Het
Lfng	A	G	5: 140,607,773	T120A	probably damaging	Het
Lrrc4	C	T	6: 28,662,200	A172T	probably benign	Het
Lrrc56	A	G	7: 141,207,607	T386A	probably benign	Het
Mapkbp1	A	T	2: 120,010,775	H81L	probably benign	Het
Mfsd14b	C	A	13: 65,073,600	V293L	probably benign	Het
Mrto4	T	A	4: 139,349,070	N70I	probably damaging	Het
Mxra8	C	T	4: 155,839,825		probably benign	Het
Myo1h	A	G	5: 114,345,936	E548G		Het
Ncan	C	T	8: 70,108,101	D739N	probably benign	Het
Olfr315	T	C	11: 58,778,769	V214A	probably benign	Het
Oxgr1	T	C	14: 120,022,151	T215A	possibly damaging	Het
Pcdhgb7	T	A	18: 37,752,035	V86E	probably damaging	Het
Pclo	G	A	5: 14,712,615	V416M		Het
Phf3	G	T	1: 30,830,791	T392K	probably benign	Het
Pkhd1	A	T	1: 20,566,849	V379E	probably damaging	Het
Ptprs	C	A	17: 56,422,217	G1254C	probably damaging	Het
Qsox1	A	T	1: 155,782,670	D384E	probably benign	Het
Rergl	A	G	6: 139,500,763	F23L	probably damaging	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Sidt2	A	G	9: 45,943,614	Y588H	probably damaging	Het
Tas2r139	T	A	6: 42,141,132	I66K	probably damaging	Het
Tbc1d30	T	A	10: 121,272,075	D474V	probably damaging	Het
Tenm4	G	A	7: 96,553,478	G100D	probably damaging	Het
Tmem258	G	A	19: 10,207,273	V75I	probably benign	Het
Tmem91	G	T	7: 25,670,563	H95N	probably damaging	Het
Trps1	T	C	15: 50,846,694	K87E	possibly damaging	Het
Tspan11	T	A	6: 127,943,717	M209K	probably benign	Het
Tspan17	C	A	13: 54,793,279	Q124K	probably benign	Het
Uts2b	G	A	16: 27,360,942	R105*	probably null	Het
Vmn2r110	T	A	17: 20,583,468	T282S	probably benign	Het
Xdh	T	A	17: 73,922,460	M333L	probably benign	Het
Zbtb3	A	G	19: 8,804,469	E482G	probably damaging	Het

Other mutations in Ppfia3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01783:Ppfia3	APN	7	45360057	splice site	probably null
IGL02086:Ppfia3	APN	7	45340572	unclassified	probably benign
IGL02160:Ppfia3	APN	7	45360051	splice site	probably benign
IGL02373:Ppfia3	APN	7	45358849	missense	probably damaging	0.98
IGL02417:Ppfia3	APN	7	45341717	missense	probably damaging	0.98
IGL02501:Ppfia3	APN	7	45354938	splice site	probably benign
IGL02638:Ppfia3	APN	7	45356668	missense	probably damaging	1.00
IGL03084:Ppfia3	APN	7	45340227	missense	probably benign	0.00
R0207:Ppfia3	UTSW	7	45348534	missense	probably damaging	1.00
R0962:Ppfia3	UTSW	7	45347722	splice site	probably benign
R1086:Ppfia3	UTSW	7	45361758	missense	probably damaging	1.00
R1146:Ppfia3	UTSW	7	45352215	missense	probably benign	0.19
R1146:Ppfia3	UTSW	7	45352215	missense	probably benign	0.19
R1566:Ppfia3	UTSW	7	45340688	missense	probably damaging	1.00
R1677:Ppfia3	UTSW	7	45356666	missense	probably benign	0.03
R1876:Ppfia3	UTSW	7	45352207	missense	possibly damaging	0.75
R2219:Ppfia3	UTSW	7	45354890	nonsense	probably null
R2336:Ppfia3	UTSW	7	45356697	splice site	probably null
R2843:Ppfia3	UTSW	7	45356428	missense	probably damaging	1.00
R2844:Ppfia3	UTSW	7	45356428	missense	probably damaging	1.00
R2846:Ppfia3	UTSW	7	45356428	missense	probably damaging	1.00
R4669:Ppfia3	UTSW	7	45352093	missense	probably damaging	1.00
R4777:Ppfia3	UTSW	7	45341157	missense	probably damaging	1.00
R4787:Ppfia3	UTSW	7	45340626	missense	possibly damaging	0.89
R4994:Ppfia3	UTSW	7	45341118	missense	probably damaging	1.00
R5042:Ppfia3	UTSW	7	45342341	missense	probably damaging	1.00
R5821:Ppfia3	UTSW	7	45353616	missense	probably damaging	0.96
R6116:Ppfia3	UTSW	7	45354703	missense	probably damaging	1.00
R6515:Ppfia3	UTSW	7	45340233	missense	possibly damaging	0.94
R6868:Ppfia3	UTSW	7	45353612	missense	probably damaging	1.00
R6920:Ppfia3	UTSW	7	45358807	missense	possibly damaging	0.46
R6935:Ppfia3	UTSW	7	45352207	missense	possibly damaging	0.47
R6978:Ppfia3	UTSW	7	45346848	missense	probably benign	0.02
R7017:Ppfia3	UTSW	7	45358800	missense	probably benign
R7027:Ppfia3	UTSW	7	45354736	missense	possibly damaging	0.80
R7078:Ppfia3	UTSW	7	45360595	missense	probably damaging	1.00
R7256:Ppfia3	UTSW	7	45341743	missense	probably benign	0.43
R7378:Ppfia3	UTSW	7	45361446	splice site	probably null
R7570:Ppfia3	UTSW	7	45340748	critical splice acceptor site	probably null
R7814:Ppfia3	UTSW	7	45352262	missense	probably benign
R8298:Ppfia3	UTSW	7	45360194	missense	probably damaging	1.00
R8712:Ppfia3	UTSW	7	45361705	missense	probably benign	0.43
R8781:Ppfia3	UTSW	7	45348529	missense	possibly damaging	0.94
R8843:Ppfia3	UTSW	7	45348517	missense	probably benign	0.02
R8901:Ppfia3	UTSW	7	45341717	missense	probably damaging	1.00
R8984:Ppfia3	UTSW	7	45340676	missense	probably damaging	1.00
R9149:Ppfia3	UTSW	7	45350293	critical splice acceptor site	probably null
R9284:Ppfia3	UTSW	7	45361798	missense	probably damaging	1.00
R9427:Ppfia3	UTSW	7	45358789	missense	possibly damaging	0.46
R9683:Ppfia3	UTSW	7	45356575	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- GCAACTTGGGAAACTAGACCTC -3'
(R):5'- CTGGGAGGTGCACAGTTAAG -3'

Sequencing Primer
(F):5'- TTGGGAAACTAGACCTCATTGCC -3'
(R):5'- AGGTGCACAGTTAAGAGTCCCTTTC -3'

Posted On

2022-11-14