Mutagenetix > Incidental Mutation

Incidental Mutation 'R8984:Ppfia3'

683888

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

068817-MU

Accession Numbers

Essential gene?

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

Stock #

R8984 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44988550-45016443 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44990100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1142 (V1142A)

Ref Sequence

ENSEMBL: ENSMUSP00000003961 (fasta)

Gene Model

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

AlphaFold

P60469

Predicted Effect

probably damaging
Transcript: ENSMUST00000003961
AA Change: V1142A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000003961
Gene: ENSMUSG00000003863
AA Change: V1142A

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 damaging
Transcript: ENSMUST00000210248
AA Change: V982A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211067
AA Change: V1142A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000211327

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (68/68)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	T	A	9: 122,180,880 (GRCm39)	V10E	probably benign	Het
Adss2	A	T	1: 177,601,280 (GRCm39)		probably benign	Het
AI467606	A	T	7: 126,691,673 (GRCm39)	I83F	probably damaging	Het
Atn1	A	T	6: 124,723,923 (GRCm39)	W437R	unknown	Het
Atxn7l2	T	C	3: 108,116,290 (GRCm39)		probably benign	Het
AU040320	T	C	4: 126,734,936 (GRCm39)	F750S	possibly damaging	Het
B3gnt6	A	G	7: 97,842,821 (GRCm39)	S380P	probably benign	Het
Bod1l	T	C	5: 41,946,215 (GRCm39)	Q3020R	probably damaging	Het
Borcs6	A	T	11: 68,950,828 (GRCm39)	I69F	probably benign	Het
Brd7	T	A	8: 89,081,340 (GRCm39)	M170L	probably benign	Het
Ccdc191	T	A	16: 43,710,581 (GRCm39)		probably benign	Het
Cit	C	T	5: 116,064,534 (GRCm39)	T472I	possibly damaging	Het
Ddx25	G	T	9: 35,468,685 (GRCm39)	D57E	probably benign	Het
Dnah7a	A	T	1: 53,674,436 (GRCm39)	L447*	probably null	Het
Epb41l3	A	G	17: 69,554,641 (GRCm39)	D247G	probably damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Etaa1	A	T	11: 17,890,254 (GRCm39)	V869E	probably damaging	Het
Exoc8	T	A	8: 125,622,769 (GRCm39)	I533F	probably benign	Het
Fam117a	A	G	11: 95,254,823 (GRCm39)		probably null	Het
Fam222a	C	T	5: 114,749,092 (GRCm39)	T96I	possibly damaging	Het
Farsa	C	T	8: 85,594,228 (GRCm39)	T326I	probably damaging	Het
Fkbp1b	T	A	12: 4,891,401 (GRCm39)	D12V	probably damaging	Het
Garin3	C	A	11: 46,295,695 (GRCm39)	Y22*	probably null	Het
Gc	C	T	5: 89,589,421 (GRCm39)		probably null	Het
Git2	T	C	5: 114,868,256 (GRCm39)	E705G	probably damaging	Het
Gm10318	G	A	10: 77,689,078 (GRCm39)	C128Y	unknown	Het
H3c3	C	A	13: 23,929,393 (GRCm39)	A30S	probably benign	Het
Hcar2	G	A	5: 124,002,571 (GRCm39)	R311*	probably null	Het
Hira	A	G	16: 18,746,261 (GRCm39)	Q468R	possibly damaging	Het
Hspa1l	T	C	17: 35,197,092 (GRCm39)	V377A	probably damaging	Het
Igkv2-137	T	A	6: 67,532,659 (GRCm39)	W14R	probably damaging	Het
Itga3	A	T	11: 94,953,391 (GRCm39)	L317Q	probably damaging	Het
Jade2	A	C	11: 51,715,906 (GRCm39)	L433W	probably damaging	Het
Kif21a	T	C	15: 90,840,559 (GRCm39)	T1186A	probably benign	Het
Krtap28-10	C	A	1: 83,019,894 (GRCm39)	C82F	unknown	Het
Ksr1	G	A	11: 78,931,709 (GRCm39)	T333M	probably damaging	Het
Msi1	T	C	5: 115,573,598 (GRCm39)	F132S	probably damaging	Het
Myo7b	C	A	18: 32,099,402 (GRCm39)	K1673N	probably null	Het
Myom3	T	A	4: 135,515,255 (GRCm39)	N716K		Het
Ndst4	G	A	3: 125,515,810 (GRCm39)	G312R	probably damaging	Het
Ndufaf2	A	G	13: 108,189,316 (GRCm39)	V144A	probably benign	Het
Omd	T	C	13: 49,743,576 (GRCm39)	S209P	possibly damaging	Het
Or2n1c	A	G	17: 38,519,304 (GRCm39)	H56R	probably damaging	Het
Or2t47	G	C	11: 58,442,209 (GRCm39)	N285K	probably damaging	Het
Or51b17	G	A	7: 103,542,816 (GRCm39)	T42I	probably benign	Het
Or51e1	T	A	7: 102,359,219 (GRCm39)	I251N	possibly damaging	Het
Or52a24	T	C	7: 103,381,220 (GRCm39)	I29T	probably damaging	Het
Or52e3	T	C	7: 102,869,393 (GRCm39)	L156P	possibly damaging	Het
Patl1	T	A	19: 11,898,760 (GRCm39)	Y152N	probably damaging	Het
Plaur	T	A	7: 24,164,577 (GRCm39)	M27K	probably benign	Het
Ppfia2	T	A	10: 106,694,439 (GRCm39)		probably benign	Het
Psg28	T	A	7: 18,156,981 (GRCm39)	N418I	probably damaging	Het
Ptprd	A	T	4: 75,863,251 (GRCm39)	F1237I	probably damaging	Het
Ptprj	G	A	2: 90,270,987 (GRCm39)	P1247L	probably damaging	Het
Rbms3	A	T	9: 116,524,886 (GRCm39)		probably null	Het
Rgs18	A	G	1: 144,629,566 (GRCm39)	V231A	probably benign	Het
Rnf112	T	C	11: 61,343,277 (GRCm39)	R156G	possibly damaging	Het
Rsad1	A	C	11: 94,439,010 (GRCm39)	V150G	probably damaging	Het
Rxrg	G	A	1: 167,462,005 (GRCm39)	V350I	possibly damaging	Het
Sash1	A	G	10: 8,626,808 (GRCm39)	I192T	possibly damaging	Het
Slc25a36	G	A	9: 96,961,259 (GRCm39)	T259I	probably benign	Het
Smarcd3	T	A	5: 24,798,986 (GRCm39)	E324V	probably null	Het
St3gal4	A	G	9: 34,966,944 (GRCm39)	V2A	possibly damaging	Het
Stk17b	A	C	1: 53,796,784 (GRCm39)	S328A	probably benign	Het
Tbrg1	A	G	9: 37,563,949 (GRCm39)	Y229H	probably damaging	Het
Tdg	A	G	10: 82,484,514 (GRCm39)	N409S	probably benign	Het
Terb1	T	C	8: 105,212,036 (GRCm39)	E315G	possibly damaging	Het
Tmem131	A	G	1: 36,867,228 (GRCm39)	F402L	probably benign	Het
Trav4-2	T	C	14: 53,656,190 (GRCm39)	I64T	probably benign	Het
Trav4-4-dv10	A	G	14: 53,921,574 (GRCm39)	T91A	probably benign	Het
Xdh	C	T	17: 74,228,346 (GRCm39)	G352R	probably damaging	Het
Zfp551	C	A	7: 12,156,559 (GRCm39)		probably benign	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
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
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'- CCAATACTGGAGATTGGCCAC -3'
(R):5'- GCATTGCCAACCAATTGTGATTG -3'

Sequencing Primer
(F):5'- TTCACCAGTGAGCTACATGTCCAG -3'
(R):5'- ATTGGATGCTGAATTTAGCGAG -3'

Posted On

2021-10-11