Mutagenetix > Incidental Mutation

Incidental Mutation 'R7017:Ppfia3'

545379

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

2410127E16Rik, Liprin-alpha3

MMRRC Submission

045118-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.241) question?

Stock #

R7017 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44988550-45016443 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45008224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 215 (D215E)

Ref Sequence

ENSEMBL: ENSMUSP00000148200 (fasta)

Gene Model

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

AlphaFold

P60469

Predicted Effect

probably benign
Transcript: ENSMUST00000003961
AA Change: D215E

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

SMART Domains

Protein: ENSMUSP00000003961
Gene: ENSMUSG00000003863
AA Change: D215E

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: ENSMUST00000210248
AA Change: D64E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211067
AA Change: D215E

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

Meta Mutation Damage Score

0.0585

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	A	G	17: 37,288,926 (GRCm39)		probably benign	Het
Acot3	A	T	12: 84,100,077 (GRCm39)		probably benign	Het
Add3	T	A	19: 53,222,284 (GRCm39)	V297E	possibly damaging	Het
Arfgap1	C	G	2: 180,618,097 (GRCm39)		probably null	Het
Cacna1i	T	C	15: 80,264,671 (GRCm39)	F1500L	probably damaging	Het
Cacna1s	T	C	1: 136,023,596 (GRCm39)	I945T	probably damaging	Het
Ccdc180	T	A	4: 45,940,934 (GRCm39)	N1334K	possibly damaging	Het
Cd5l	C	A	3: 87,273,368 (GRCm39)	Y112*	probably null	Het
Cracd	GAGGCAGCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GAGACAACGCGAGGCCGAGAGGCAGG	5: 77,004,795 (GRCm39)		probably benign	Het
Cyp2d40	A	T	15: 82,644,234 (GRCm39)	F297Y	unknown	Het
Ddx4	C	T	13: 112,738,022 (GRCm39)	V546I	probably damaging	Het
Dgkg	T	C	16: 22,391,463 (GRCm39)	M332V	probably benign	Het
Dnah12	T	C	14: 26,456,835 (GRCm39)	I867T	probably benign	Het
Dnah2	T	A	11: 69,382,373 (GRCm39)	K1246*	probably null	Het
Drd2	G	A	9: 49,312,129 (GRCm39)	V161I	probably benign	Het
Dsp	A	G	13: 38,370,683 (GRCm39)	D862G	probably benign	Het
Ephx4	T	C	5: 107,553,980 (GRCm39)	F10S	probably damaging	Het
Fabp9	C	A	3: 10,259,756 (GRCm39)	A76S	possibly damaging	Het
Fat4	G	A	3: 38,945,692 (GRCm39)	M1528I	probably benign	Het
Fbxl12	A	G	9: 20,529,616 (GRCm39)	S84P	unknown	Het
Fbxo40	T	C	16: 36,790,732 (GRCm39)	D126G	probably damaging	Het
Fpr1	C	T	17: 18,097,654 (GRCm39)	V112I	probably benign	Het
Frem2	T	C	3: 53,427,023 (GRCm39)	N2975S	probably benign	Het
Gask1a	T	C	9: 121,795,052 (GRCm39)		probably null	Het
Gm7945	T	C	14: 41,105,610 (GRCm39)	Y156C		Het
Gnpat	T	C	8: 125,590,014 (GRCm39)	V13A	probably benign	Het
Gpx5	G	A	13: 21,475,561 (GRCm39)	P55L	probably damaging	Het
Hbp1	A	G	12: 31,993,852 (GRCm39)	S59P	probably damaging	Het
Ighv1-36	T	A	12: 114,843,533 (GRCm39)	D109V	probably damaging	Het
Iqcf5	T	A	9: 106,392,863 (GRCm39)	I40N	possibly damaging	Het
Kcnma1	T	G	14: 23,544,711 (GRCm39)	I484L	possibly damaging	Het
Kera	A	T	10: 97,444,939 (GRCm39)	R99S	possibly damaging	Het
Kif3b	T	A	2: 153,171,644 (GRCm39)	S707R	possibly damaging	Het
Lilra6	G	T	7: 3,911,707 (GRCm39)	T317N	possibly damaging	Het
Lrrc15	C	T	16: 30,091,780 (GRCm39)	E520K	probably benign	Het
Lrrc34	C	T	3: 30,699,465 (GRCm39)		probably null	Het
Lvrn	A	G	18: 46,983,745 (GRCm39)	T163A	probably benign	Het
Met	T	A	6: 17,491,286 (GRCm39)	L16*	probably null	Het
Mpzl2	G	T	9: 44,958,587 (GRCm39)	D108Y	probably benign	Het
Mrgprb2	T	A	7: 48,202,585 (GRCm39)	I47F	probably benign	Het
Muc5ac	G	C	7: 141,363,424 (GRCm39)		probably benign	Het
Mybphl	T	A	3: 108,282,154 (GRCm39)	V128E	probably damaging	Het
Nckap5	A	T	1: 126,030,398 (GRCm39)	D231E	probably damaging	Het
Or5g23	T	A	2: 85,438,673 (GRCm39)	M194L	probably benign	Het
Orm1	T	A	4: 63,263,448 (GRCm39)	I87K	probably benign	Het
Pdgfrb	C	T	18: 61,214,076 (GRCm39)	P954S	probably benign	Het
Pdzd8	G	T	19: 59,333,784 (GRCm39)	S79*	probably null	Het
Pdzd9	T	A	7: 120,262,225 (GRCm39)	H79L	probably benign	Het
Plcg1	A	T	2: 160,600,017 (GRCm39)	I926F	probably damaging	Het
Plec	A	T	15: 76,057,741 (GRCm39)	F4078L	probably damaging	Het
Plek	G	A	11: 17,002,220 (GRCm39)		probably benign	Het
Pogz	T	C	3: 94,761,335 (GRCm39)	I25T	probably damaging	Het
Psg22	C	A	7: 18,458,366 (GRCm39)	S352R	probably benign	Het
Ptchd4	A	G	17: 42,813,626 (GRCm39)	Y509C	probably damaging	Het
Ralgapb	C	A	2: 158,290,257 (GRCm39)	N389K	probably benign	Het
Rdh1	A	G	10: 127,598,906 (GRCm39)	D129G	probably benign	Het
Rimbp3	A	G	16: 17,027,610 (GRCm39)	T345A	probably benign	Het
S100a14	T	C	3: 90,434,602 (GRCm39)		probably null	Het
Scamp1	T	A	13: 94,361,423 (GRCm39)	R152S	probably damaging	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Srf	T	C	17: 46,861,830 (GRCm39)	T383A	probably benign	Het
St6galnac5	T	C	3: 152,552,040 (GRCm39)	M176V	probably damaging	Het
St8sia1	C	A	6: 142,813,632 (GRCm39)	V177F	probably damaging	Het
Syt12	C	T	19: 4,510,895 (GRCm39)		probably null	Het
Tanc2	A	G	11: 105,813,934 (GRCm39)	I1793V	probably benign	Het
Tas2r123	A	G	6: 132,824,513 (GRCm39)	I137V	probably benign	Het
Tenm2	T	A	11: 36,062,236 (GRCm39)	Y543F	probably damaging	Het
Tent5b	T	C	4: 133,213,545 (GRCm39)	S139P	possibly damaging	Het
Tgfbr1	T	C	4: 47,410,728 (GRCm39)	I488T	probably damaging	Het
Tgm1	T	A	14: 55,942,398 (GRCm39)	Y651F	possibly damaging	Het
Thbs3	A	T	3: 89,131,722 (GRCm39)	D698V	probably damaging	Het
Tpra1	T	A	6: 88,885,294 (GRCm39)	I82N	probably damaging	Het
Ubr4	T	A	4: 139,120,401 (GRCm39)	D275E	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wwp1	T	C	4: 19,623,124 (GRCm39)	Y787C	probably damaging	Het
Znfx1	T	C	2: 166,890,454 (GRCm39)	S677G	probably damaging	Het

Other mutations in Ppfia3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01783:Ppfia3	APN	7	45,009,481 (GRCm39)	splice site	probably null
IGL02086:Ppfia3	APN	7	44,989,996 (GRCm39)	unclassified	probably benign
IGL02160:Ppfia3	APN	7	45,009,475 (GRCm39)	splice site	probably benign
IGL02373:Ppfia3	APN	7	45,008,273 (GRCm39)	missense	probably damaging	0.98
IGL02417:Ppfia3	APN	7	44,991,141 (GRCm39)	missense	probably damaging	0.98
IGL02501:Ppfia3	APN	7	45,004,362 (GRCm39)	splice site	probably benign
IGL02638:Ppfia3	APN	7	45,006,092 (GRCm39)	missense	probably damaging	1.00
IGL03084:Ppfia3	APN	7	44,989,651 (GRCm39)	missense	probably benign	0.00
R0207:Ppfia3	UTSW	7	44,997,958 (GRCm39)	missense	probably damaging	1.00
R0962:Ppfia3	UTSW	7	44,997,146 (GRCm39)	splice site	probably benign
R1086:Ppfia3	UTSW	7	45,011,182 (GRCm39)	missense	probably damaging	1.00
R1146:Ppfia3	UTSW	7	45,001,639 (GRCm39)	missense	probably benign	0.19
R1146:Ppfia3	UTSW	7	45,001,639 (GRCm39)	missense	probably benign	0.19
R1566:Ppfia3	UTSW	7	44,990,112 (GRCm39)	missense	probably damaging	1.00
R1677:Ppfia3	UTSW	7	45,006,090 (GRCm39)	missense	probably benign	0.03
R1876:Ppfia3	UTSW	7	45,001,631 (GRCm39)	missense	possibly damaging	0.75
R2219:Ppfia3	UTSW	7	45,004,314 (GRCm39)	nonsense	probably null
R2336:Ppfia3	UTSW	7	45,006,121 (GRCm39)	splice site	probably null
R2843:Ppfia3	UTSW	7	45,005,852 (GRCm39)	missense	probably damaging	1.00
R2844:Ppfia3	UTSW	7	45,005,852 (GRCm39)	missense	probably damaging	1.00
R2846:Ppfia3	UTSW	7	45,005,852 (GRCm39)	missense	probably damaging	1.00
R4669:Ppfia3	UTSW	7	45,001,517 (GRCm39)	missense	probably damaging	1.00
R4777:Ppfia3	UTSW	7	44,990,581 (GRCm39)	missense	probably damaging	1.00
R4787:Ppfia3	UTSW	7	44,990,050 (GRCm39)	missense	possibly damaging	0.89
R4994:Ppfia3	UTSW	7	44,990,542 (GRCm39)	missense	probably damaging	1.00
R5042:Ppfia3	UTSW	7	44,991,765 (GRCm39)	missense	probably damaging	1.00
R5821:Ppfia3	UTSW	7	45,003,040 (GRCm39)	missense	probably damaging	0.96
R6116:Ppfia3	UTSW	7	45,004,127 (GRCm39)	missense	probably damaging	1.00
R6515:Ppfia3	UTSW	7	44,989,657 (GRCm39)	missense	possibly damaging	0.94
R6868:Ppfia3	UTSW	7	45,003,036 (GRCm39)	missense	probably damaging	1.00
R6920:Ppfia3	UTSW	7	45,008,231 (GRCm39)	missense	possibly damaging	0.46
R6935:Ppfia3	UTSW	7	45,001,631 (GRCm39)	missense	possibly damaging	0.47
R6978:Ppfia3	UTSW	7	44,996,272 (GRCm39)	missense	probably benign	0.02
R7027:Ppfia3	UTSW	7	45,004,160 (GRCm39)	missense	possibly damaging	0.80
R7078:Ppfia3	UTSW	7	45,010,019 (GRCm39)	missense	probably damaging	1.00
R7256:Ppfia3	UTSW	7	44,991,167 (GRCm39)	missense	probably benign	0.43
R7378:Ppfia3	UTSW	7	45,010,870 (GRCm39)	splice site	probably null
R7570:Ppfia3	UTSW	7	44,990,172 (GRCm39)	critical splice acceptor site	probably null
R7814:Ppfia3	UTSW	7	45,001,686 (GRCm39)	missense	probably benign
R8298:Ppfia3	UTSW	7	45,009,618 (GRCm39)	missense	probably damaging	1.00
R8712:Ppfia3	UTSW	7	45,011,129 (GRCm39)	missense	probably benign	0.43
R8781:Ppfia3	UTSW	7	44,997,953 (GRCm39)	missense	possibly damaging	0.94
R8843:Ppfia3	UTSW	7	44,997,941 (GRCm39)	missense	probably benign	0.02
R8901:Ppfia3	UTSW	7	44,991,141 (GRCm39)	missense	probably damaging	1.00
R8984:Ppfia3	UTSW	7	44,990,100 (GRCm39)	missense	probably damaging	1.00
R9149:Ppfia3	UTSW	7	44,999,717 (GRCm39)	critical splice acceptor site	probably null
R9284:Ppfia3	UTSW	7	45,011,222 (GRCm39)	missense	probably damaging	1.00
R9427:Ppfia3	UTSW	7	45,008,213 (GRCm39)	missense	possibly damaging	0.46
R9683:Ppfia3	UTSW	7	45,005,999 (GRCm39)	missense	probably benign	0.29
R9803:Ppfia3	UTSW	7	44,990,539 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACGCTCATTAGAAAGTCAGGAG -3'
(R):5'- GCTGGAACTGAGCAATCAGG -3'

Sequencing Primer
(F):5'- CGTAGGCTTGCACTTTTAATGAC -3'
(R):5'- TCTGAAGACAGCTACAGTGTAC -3'

Posted On

2019-05-13