Mutagenetix > Incidental Mutation

Incidental Mutation 'R7078:Ppfia3'

549344

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.252) question?

Stock #

R7078 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44988550-45016443 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 45010019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 95 (Q95K)

Ref Sequence

ENSEMBL: ENSMUSP00000003961 (fasta)

Gene Model

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

AlphaFold

P60469

Predicted Effect

probably damaging
Transcript: ENSMUST00000003961
AA Change: Q95K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000003961
Gene: ENSMUSG00000003863
AA Change: Q95K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000211067
AA Change: Q95K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	G	A	11: 84,154,138 (GRCm39)	R953Q	possibly damaging	Het
Aldh1a1	A	T	19: 20,579,434 (GRCm39)	H20L	probably benign	Het
Ankrd52	T	A	10: 128,219,526 (GRCm39)	C487S	probably benign	Het
Ap1s3	T	C	1: 79,602,845 (GRCm39)	E54G	probably benign	Het
Arglu1	A	C	8: 8,717,361 (GRCm39)	M236R	probably benign	Het
Baz1b	T	A	5: 135,246,293 (GRCm39)	F581I	probably benign	Het
Bbox1	T	G	2: 110,122,884 (GRCm39)	D135A	probably benign	Het
Bcl2l14	T	A	6: 134,400,786 (GRCm39)	V69E	probably damaging	Het
Brinp3	C	T	1: 146,390,627 (GRCm39)	Q58*	probably null	Het
Ccnb1ip1	T	A	14: 51,029,724 (GRCm39)	K113*	probably null	Het
Cep128	T	C	12: 91,200,878 (GRCm39)	I830M	probably damaging	Het
Ces2f	C	T	8: 105,681,284 (GRCm39)	T541I	probably damaging	Het
Chsy3	C	A	18: 59,309,149 (GRCm39)	P134Q	possibly damaging	Het
Cobl	T	G	11: 12,328,271 (GRCm39)	T112P	probably damaging	Het
Cplane2	A	T	4: 140,947,159 (GRCm39)	Y180F	probably benign	Het
Dcc	T	A	18: 71,680,469 (GRCm39)	K589I	probably benign	Het
Depdc1b	T	A	13: 108,523,505 (GRCm39)	I460K	possibly damaging	Het
Dlst	T	C	12: 85,157,705 (GRCm39)	F12S	probably benign	Het
Dnah1	G	C	14: 31,019,067 (GRCm39)	F1342L	probably damaging	Het
Dtnb	A	G	12: 3,798,480 (GRCm39)	Q438R	possibly damaging	Het
Dusp4	C	A	8: 35,275,065 (GRCm39)	S61R	probably damaging	Het
E130308A19Rik	A	G	4: 59,737,688 (GRCm39)	Y433C	probably damaging	Het
Ebf2	T	C	14: 67,661,407 (GRCm39)	S512P	probably benign	Het
Elapor2	A	G	5: 9,460,709 (GRCm39)	N210S	probably benign	Het
Eya1	C	T	1: 14,301,636 (GRCm39)		probably null	Het
Fsd1	G	A	17: 56,300,876 (GRCm39)	R245H	probably damaging	Het
Fzr1	T	A	10: 81,204,463 (GRCm39)	D379V	probably damaging	Het
Gk2	T	A	5: 97,604,195 (GRCm39)	E214D	probably benign	Het
Gm10837	C	G	14: 122,728,142 (GRCm39)	A6G	unknown	Het
Gmnc	A	T	16: 26,779,272 (GRCm39)	V251E	probably benign	Het
Golga3	A	G	5: 110,340,953 (GRCm39)	Q549R	probably damaging	Het
Gsdmd	T	G	15: 75,736,204 (GRCm39)	V111G	probably damaging	Het
Gtf3c1	T	C	7: 125,244,914 (GRCm39)	T1707A	possibly damaging	Het
Gucy2c	C	T	6: 136,674,937 (GRCm39)	V1049M	probably benign	Het
Gucy2g	A	G	19: 55,229,583 (GRCm39)	V29A	probably damaging	Het
Hecw1	A	T	13: 14,609,044 (GRCm39)	M1K	probably null	Het
Hmcn1	T	C	1: 150,736,118 (GRCm39)	D117G	probably damaging	Het
Ifnab	T	A	4: 88,609,350 (GRCm39)	T39S	possibly damaging	Het
Lcorl	A	G	5: 45,904,566 (GRCm39)	Y171H	probably damaging	Het
Ly6g6c	C	T	17: 35,288,437 (GRCm39)	P103L	probably damaging	Het
Macf1	T	G	4: 123,325,936 (GRCm39)	E5189A	probably damaging	Het
Mapkap1	A	G	2: 34,453,151 (GRCm39)	E348G	probably damaging	Het
Med25	G	T	7: 44,534,325 (GRCm39)	A280D	probably damaging	Het
Mep1b	C	A	18: 21,233,108 (GRCm39)	A703E	probably benign	Het
Morn5	T	A	2: 35,944,990 (GRCm39)	N71K	probably benign	Het
Mtmr10	T	A	7: 63,970,375 (GRCm39)	Y373N	possibly damaging	Het
Myo1d	C	T	11: 80,565,460 (GRCm39)	E426K	probably damaging	Het
Ncbp1	G	C	4: 46,155,756 (GRCm39)	V302L	probably benign	Het
Notch4	A	G	17: 34,801,520 (GRCm39)	T1123A	possibly damaging	Het
Nudt18	T	A	14: 70,816,452 (GRCm39)	M88K	possibly damaging	Het
Or12k8	A	G	2: 36,975,608 (GRCm39)	S51P	possibly damaging	Het
Or5b100-ps1	A	T	19: 12,994,097 (GRCm39)	D170V	possibly damaging	Het
Or6d12	T	A	6: 116,493,632 (GRCm39)	L298Q	probably damaging	Het
Or8g4	A	T	9: 39,661,787 (GRCm39)	Y35F	possibly damaging	Het
Pdcd6ip	T	C	9: 113,488,953 (GRCm39)	N694S	probably benign	Het
Pecam1	T	A	11: 106,579,773 (GRCm39)	T430S	probably benign	Het
Plaa	T	G	4: 94,462,288 (GRCm39)	T530P	probably benign	Het
Ppp4r2	T	C	6: 100,843,274 (GRCm39)	S331P	probably benign	Het
Prg4	T	C	1: 150,334,014 (GRCm39)	T117A	possibly damaging	Het
Prrc2b	A	T	2: 32,103,531 (GRCm39)	D1003V	probably benign	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Rasef	T	C	4: 73,698,626 (GRCm39)	I12V	probably benign	Het
Robo2	T	G	16: 74,149,504 (GRCm39)	Y108S	probably damaging	Het
Rp1	T	A	1: 4,277,014 (GRCm39)	E762V	unknown	Het
Rsrc1	T	C	3: 66,901,987 (GRCm39)	S46P	unknown	Het
Rttn	A	T	18: 89,027,546 (GRCm39)	T554S	probably benign	Het
Sall3	C	T	18: 81,017,314 (GRCm39)	V205M	probably damaging	Het
Scn3a	C	A	2: 65,327,944 (GRCm39)	V849L	probably damaging	Het
Sec23a	A	G	12: 59,039,069 (GRCm39)	C277R	probably benign	Het
Sf3b3	C	T	8: 111,539,639 (GRCm39)	A1075T	possibly damaging	Het
Sfxn5	T	C	6: 85,309,366 (GRCm39)	D113G	unknown	Het
Slc22a22	C	T	15: 57,126,876 (GRCm39)	M64I	probably benign	Het
Slc5a11	C	T	7: 122,857,669 (GRCm39)	P253S	probably damaging	Het
Smarcd3	A	G	5: 24,798,067 (GRCm39)	F449S	probably damaging	Het
Sspo	C	T	6: 48,437,313 (GRCm39)	T1357M	probably damaging	Het
Styx	C	T	14: 45,609,873 (GRCm39)	T179I	probably benign	Het
Syt7	A	T	19: 10,412,963 (GRCm39)	T297S	probably benign	Het
Tbx19	T	A	1: 164,988,135 (GRCm39)		probably benign	Het
Tg	T	A	15: 66,545,392 (GRCm39)	V149E	probably damaging	Het
Tgfbr3l	T	A	8: 4,299,238 (GRCm39)	L35Q	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tmem219	T	A	7: 126,490,975 (GRCm39)	T161S	probably damaging	Het
Tox2	T	A	2: 163,162,501 (GRCm39)	L68H		Het
Trim5	T	A	7: 103,927,681 (GRCm39)	D153V	possibly damaging	Het
Ttn	T	C	2: 76,580,651 (GRCm39)	Y23414C	probably damaging	Het
Ttn	A	T	2: 76,582,153 (GRCm39)	N22913K	probably damaging	Het
Ubr2	A	C	17: 47,266,779 (GRCm39)	M1124R	possibly damaging	Het
Vmn2r75	A	G	7: 85,815,568 (GRCm39)	S99P	probably damaging	Het
Wdr83	T	C	8: 85,802,680 (GRCm39)	D219G	probably damaging	Het
Wdr90	C	T	17: 26,068,623 (GRCm39)	V1285M	probably damaging	Het
Zmynd15	A	T	11: 70,351,581 (GRCm39)	L62F	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
R7017:Ppfia3	UTSW	7	45,008,224 (GRCm39)	missense	probably benign
R7027:Ppfia3	UTSW	7	45,004,160 (GRCm39)	missense	possibly damaging	0.80
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'- ATAAGGACCACGCACAGGTG -3'
(R):5'- CTAGCAGGACTTAGTAAGGGGC -3'

Sequencing Primer
(F):5'- AGACGGTGACTGCCAGG -3'
(R):5'- CAGGACTTAGTAAGGGGCAGTTTTG -3'

Posted On

2019-05-15