Mutagenetix > Incidental Mutation

Incidental Mutation 'R8712:Ppfia3'

669638

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

068566-MU

Accession Numbers

Essential gene?

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

Stock #

R8712 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44988550-45016443 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45011129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 34 (T34S)

Ref Sequence

ENSEMBL: ENSMUSP00000003961 (fasta)

Gene Model

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

AlphaFold

P60469

Predicted Effect

probably benign
Transcript: ENSMUST00000003961
AA Change: T34S

PolyPhen 2 Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000003961
Gene: ENSMUSG00000003863
AA Change: T34S

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 benign
Transcript: ENSMUST00000211067
AA Change: T34S

PolyPhen 2 Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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
Adamts1	A	T	16: 85,594,896 (GRCm39)	N617K	probably benign	Het
Adnp2	A	T	18: 80,174,185 (GRCm39)	C75S	probably damaging	Het
Agmo	T	C	12: 37,407,673 (GRCm39)	F186L	possibly damaging	Het
Ahnak2	T	C	12: 112,749,872 (GRCm39)	Y122C		Het
Ahnak2	T	C	12: 112,750,709 (GRCm39)	E71G		Het
Aldh5a1	A	G	13: 25,102,524 (GRCm39)	V313A	probably damaging	Het
Ankib1	C	A	5: 3,822,643 (GRCm39)	C21F	probably benign	Het
Aqr	A	G	2: 113,949,358 (GRCm39)	Y947H	probably damaging	Het
Atp1a2	T	A	1: 172,103,547 (GRCm39)	Y991F	probably benign	Het
Atp8b3	G	A	10: 80,365,923 (GRCm39)	T309M	possibly damaging	Het
Blzf1	T	A	1: 164,125,859 (GRCm39)	D259V	possibly damaging	Het
Cacng5	T	C	11: 107,772,510 (GRCm39)	I113V	probably benign	Het
Catsper3	T	C	13: 55,953,657 (GRCm39)	M269T	probably benign	Het
Ccdc142	A	C	6: 83,079,233 (GRCm39)	Y190S	probably damaging	Het
Ccdc159	C	A	9: 21,845,051 (GRCm39)	Q306K	probably benign	Het
Ccdc180	A	T	4: 45,920,842 (GRCm39)		probably null	Het
Cebpz	A	G	17: 79,229,081 (GRCm39)	F955S	possibly damaging	Het
Cftr	C	T	6: 18,274,696 (GRCm39)	T938I	probably damaging	Het
Col28a1	T	C	6: 8,013,133 (GRCm39)	K973R	probably benign	Het
Cyp2c29	T	C	19: 39,310,138 (GRCm39)		probably benign	Het
Ddx1	A	G	12: 13,293,859 (GRCm39)		probably benign	Het
Duox2	A	C	2: 122,119,826 (GRCm39)	Y867*	probably null	Het
Ereg	T	C	5: 91,237,013 (GRCm39)	Y111H	possibly damaging	Het
Esrrb	T	A	12: 86,565,724 (GRCm39)	L417Q	probably damaging	Het
Fbxw7	G	A	3: 84,859,684 (GRCm39)	R2H	unknown	Het
Galnt6	C	T	15: 100,592,501 (GRCm39)	V569I	probably benign	Het
Gm14226	G	A	2: 154,866,094 (GRCm39)	C17Y	unknown	Het
Gpr150	T	G	13: 76,204,642 (GRCm39)	D101A	probably damaging	Het
Grm1	A	T	10: 10,565,296 (GRCm39)	L1004Q	probably benign	Het
Gtf2a1l	T	A	17: 89,022,351 (GRCm39)	D447E	probably damaging	Het
Gtf2ird1	C	T	5: 134,444,064 (GRCm39)	V64M	probably damaging	Het
Ifi206	A	T	1: 173,308,074 (GRCm39)	W641R		Het
Ifi214	T	A	1: 173,355,486 (GRCm39)	E107D	possibly damaging	Het
Kif19a	T	C	11: 114,675,599 (GRCm39)	V357A	probably damaging	Het
Klhdc7b	T	A	15: 89,271,025 (GRCm39)	S636T	probably benign	Het
Klhl25	C	T	7: 75,515,420 (GRCm39)	R109C	probably damaging	Het
Ltbp2	T	C	12: 84,853,124 (GRCm39)	E835G	probably benign	Het
Marchf1	A	G	8: 66,921,000 (GRCm39)	K226E	probably damaging	Het
Mcpt1	T	C	14: 56,256,170 (GRCm39)		probably benign	Het
Myrf	C	A	19: 10,192,434 (GRCm39)	R639L	probably benign	Het
Naip5	T	C	13: 100,359,604 (GRCm39)	H544R	possibly damaging	Het
Nccrp1	T	C	7: 28,245,769 (GRCm39)	I132V	probably benign	Het
Nprl3	C	T	11: 32,187,334 (GRCm39)	V333I	possibly damaging	Het
Or13a25	C	T	7: 140,248,052 (GRCm39)	S277L	possibly damaging	Het
Or14n1-ps1	T	C	7: 86,092,923 (GRCm39)	S245P	probably damaging	Het
Or2o1	T	C	11: 49,051,297 (GRCm39)	M152T	probably benign	Het
Or2y1	T	A	11: 49,385,671 (GRCm39)	S104T	probably benign	Het
Or4b1d	A	T	2: 89,969,114 (GRCm39)	I123N	probably damaging	Het
Or4f62	A	T	2: 111,986,934 (GRCm39)	I213F	probably damaging	Het
Or52h1	T	C	7: 103,829,025 (GRCm39)	N197D	probably damaging	Het
Or56a41	C	A	7: 104,741,808 (GRCm39)	V73F	possibly damaging	Het
Or8c15	T	C	9: 38,121,099 (GRCm39)	V248A	probably benign	Het
Or8d6	T	C	9: 39,853,891 (GRCm39)	S112P	probably damaging	Het
Otx2	A	G	14: 48,896,521 (GRCm39)	M179T	probably damaging	Het
Pmfbp1	A	G	8: 110,265,309 (GRCm39)		probably benign	Het
Prkcsh	T	C	9: 21,924,375 (GRCm39)	Y502H	probably damaging	Het
Psd	T	C	19: 46,301,775 (GRCm39)	E937G	probably damaging	Het
Rbbp6	T	A	7: 122,600,976 (GRCm39)	I1661N	unknown	Het
Rhobtb1	T	A	10: 69,106,587 (GRCm39)	M446K	probably damaging	Het
Sall3	T	C	18: 81,017,236 (GRCm39)	I231V	probably benign	Het
Slc12a9	C	T	5: 137,325,916 (GRCm39)	V270I	probably damaging	Het
Slc6a15	A	G	10: 103,225,112 (GRCm39)	K67E	probably damaging	Het
Slc9c1	A	G	16: 45,380,646 (GRCm39)	D524G	probably benign	Het
Smpdl3a	A	G	10: 57,687,526 (GRCm39)	D418G	probably benign	Het
Sox6	T	C	7: 115,196,743 (GRCm39)	T296A	probably benign	Het
Ssu2	T	C	6: 112,361,399 (GRCm39)	E19G	probably damaging	Het
Tctn3	T	C	19: 40,600,170 (GRCm39)	N90S	probably damaging	Het
Tex24	A	G	8: 27,834,652 (GRCm39)	Q60R	possibly damaging	Het
Tlcd1	T	A	11: 78,070,470 (GRCm39)	*128R	probably null	Het
Tti1	A	C	2: 157,834,930 (GRCm39)	L1010R	probably damaging	Het
Ttn	A	G	2: 76,567,682 (GRCm39)	L27737P	probably damaging	Het
Ubqln5	T	A	7: 103,778,322 (GRCm39)	K167N	probably benign	Het
Unkl	A	G	17: 25,450,689 (GRCm39)	I492V	possibly damaging	Het
Vmn1r8	G	A	6: 57,013,665 (GRCm39)	V239I	probably benign	Het
Vmn2r101	T	A	17: 19,811,397 (GRCm39)	L494I	probably benign	Het
Vmn2r54	G	T	7: 12,369,877 (GRCm39)	T62K	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
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'- TTCGCAGTTAAGACTCGCCTAC -3'
(R):5'- GGCCTTGCCTCAGTTATCTG -3'

Sequencing Primer
(F):5'- GGACAGCCCTCCTCTTTAGG -3'
(R):5'- GAGTCCTGAATAGTTAGTCAGTCCC -3'

Posted On

2021-04-30