Mutagenetix > Incidental Mutations

Incidental Mutation 'R0849:Ppfia4'

77043

Institutional Source

Beutler Lab

Gene Symbol

Ppfia4

Ensembl Gene

ENSMUSG00000026458

Gene Name

protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4

Synonyms

1110008G13Rik, LOC100042382, Liprin-alpha4, Gm3812

MMRRC Submission

039028-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R0849 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134296783-134332928 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 134319372 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 537 (F537I)

Ref Sequence

ENSEMBL: ENSMUSP00000128314 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168515] [ENSMUST00000186730] [ENSMUST00000189361]

Predicted Effect

probably benign
Transcript: ENSMUST00000168515
AA Change: F537I

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000128314
Gene: ENSMUSG00000026458
AA Change: F537I

Domain	Start	End	E-Value	Type
coiled coil region	22	127	N/A	INTRINSIC
coiled coil region	225	474	N/A	INTRINSIC
coiled coil region	567	611	N/A	INTRINSIC
low complexity region	629	645	N/A	INTRINSIC
low complexity region	731	744	N/A	INTRINSIC
SAM	826	895	1.17e-9	SMART
SAM	941	1008	1.69e-6	SMART
SAM	1029	1101	4.87e-7	SMART
low complexity region	1154	1167	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186730
AA Change: F254I

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000139800
Gene: ENSMUSG00000026458
AA Change: F254I

Domain	Start	End	E-Value	Type
coiled coil region	1	191	N/A	INTRINSIC
coiled coil region	284	328	N/A	INTRINSIC
low complexity region	346	362	N/A	INTRINSIC
low complexity region	448	461	N/A	INTRINSIC
SAM	543	612	7e-12	SMART
SAM	649	716	1e-8	SMART
SAM	737	809	2.8e-9	SMART
low complexity region	862	875	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189361
AA Change: F537I

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000139833
Gene: ENSMUSG00000026458
AA Change: F537I

Domain	Start	End	E-Value	Type
coiled coil region	22	127	N/A	INTRINSIC
coiled coil region	225	474	N/A	INTRINSIC
coiled coil region	567	611	N/A	INTRINSIC
low complexity region	629	645	N/A	INTRINSIC
low complexity region	731	744	N/A	INTRINSIC
SAM	826	895	7e-12	SMART
SAM	941	1008	1e-8	SMART
SAM	1029	1101	2.8e-9	SMART
low complexity region	1154	1167	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.5%
20x: 92.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	A	C	9: 103,263,057	Y488D	possibly damaging	Het
Arhgap5	T	C	12: 52,519,623	F1126L	probably benign	Het
Arhgef11	G	T	3: 87,735,896	A1472S	probably benign	Het
Armc9	G	A	1: 86,257,270	R681K	probably benign	Het
Atxn2	T	A	5: 121,747,421		probably null	Het
B3gnt6	C	A	7: 98,194,743	L3F	probably benign	Het
Cand2	A	G	6: 115,792,391	T721A	probably damaging	Het
Cntn2	A	T	1: 132,522,386	M590K	probably benign	Het
Cntn4	A	T	6: 106,667,457	D622V	probably damaging	Het
Des	T	G	1: 75,360,628	S71A	probably benign	Het
Dnah5	C	A	15: 28,263,599	R827S	probably damaging	Het
Dstn	G	A	2: 143,938,535	G52S	probably benign	Het
Eln	T	A	5: 134,707,981	R704*	probably null	Het
Fezf2	T	A	14: 12,342,607	K419N	probably damaging	Het
Gm2381	G	A	7: 42,819,948	Q251*	probably null	Het
Gm9268	A	G	7: 43,024,718	Y400C	probably damaging	Het
Grin3a	G	A	4: 49,665,501	R1045*	probably null	Het
Herc2	T	A	7: 56,206,578	H3921Q	probably damaging	Het
Hs3st2	A	G	7: 121,501,032	E367G	possibly damaging	Het
Hydin	G	A	8: 110,598,984	R4675H	probably damaging	Het
Irf2bp1	T	C	7: 19,004,734	S100P	possibly damaging	Het
Itga10	A	G	3: 96,652,530	I500M	possibly damaging	Het
Kcnt2	T	C	1: 140,507,762	V496A	probably damaging	Het
Mansc1	T	C	6: 134,610,707	D169G	probably benign	Het
Mdn1	T	A	4: 32,741,835	S3869T	probably damaging	Het
Mrgprb4	G	A	7: 48,199,120	T20I	probably benign	Het
Nek4	A	G	14: 30,957,296	E198G	probably damaging	Het
Olfr1120	G	T	2: 87,358,265	V274L	probably benign	Het
Olfr1131	C	A	2: 87,629,282	T273K	possibly damaging	Het
Olfr1380	G	A	11: 49,564,302	C127Y	probably damaging	Het
Rarb	A	G	14: 16,434,293	V295A	probably damaging	Het
Ryr1	A	G	7: 29,040,679	S3941P	probably damaging	Het
Scnn1b	A	G	7: 121,912,475	N370S	probably damaging	Het
Stard9	C	A	2: 120,673,636	S221R	probably damaging	Het
Sv2c	C	T	13: 95,989,811	G311D	probably damaging	Het
Tas2r109	T	C	6: 132,980,893	I25V	probably benign	Het
Tbcel	A	C	9: 42,437,157	I305S	probably damaging	Het
Tmem35b	A	G	4: 127,126,197		probably null	Het
Tmem38b	T	C	4: 53,840,765	L60S	probably damaging	Het
Tmtc4	A	G	14: 122,945,554	I244T	possibly damaging	Het
Usp9y	C	A	Y: 1,394,002	C576F	probably damaging	Het
Vcan	A	T	13: 89,704,953	N629K	possibly damaging	Het
Vmn2r22	T	C	6: 123,637,404	Y409C	probably damaging	Het

Other mutations in Ppfia4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01371:Ppfia4	APN	1	134328086	missense	probably benign	0.00
IGL01935:Ppfia4	APN	1	134317936	missense	probably benign	0.02
IGL02008:Ppfia4	APN	1	134332391	missense	probably damaging	1.00
R0037:Ppfia4	UTSW	1	134324089	missense	probably damaging	1.00
R0084:Ppfia4	UTSW	1	134299426	missense	possibly damaging	0.84
R0108:Ppfia4	UTSW	1	134324217	splice site	probably null
R0109:Ppfia4	UTSW	1	134324217	splice site	probably null
R0109:Ppfia4	UTSW	1	134324217	splice site	probably null
R0238:Ppfia4	UTSW	1	134329189	missense	possibly damaging	0.89
R0238:Ppfia4	UTSW	1	134329189	missense	possibly damaging	0.89
R0239:Ppfia4	UTSW	1	134329189	missense	possibly damaging	0.89
R0239:Ppfia4	UTSW	1	134329189	missense	possibly damaging	0.89
R0254:Ppfia4	UTSW	1	134324224	splice site	probably benign
R0445:Ppfia4	UTSW	1	134327289	missense	probably benign	0.31
R0504:Ppfia4	UTSW	1	134324113	missense	probably damaging	1.00
R0617:Ppfia4	UTSW	1	134328780	missense	probably damaging	1.00
R0839:Ppfia4	UTSW	1	134328807	missense	probably null	1.00
R0898:Ppfia4	UTSW	1	134321126	missense	probably benign
R1173:Ppfia4	UTSW	1	134332283	splice site	probably benign
R1728:Ppfia4	UTSW	1	134299321	missense	probably benign	0.00
R1729:Ppfia4	UTSW	1	134299321	missense	probably benign	0.00
R1730:Ppfia4	UTSW	1	134299321	missense	probably benign	0.00
R1762:Ppfia4	UTSW	1	134299321	missense	probably benign	0.00
R1783:Ppfia4	UTSW	1	134299321	missense	probably benign	0.00
R1784:Ppfia4	UTSW	1	134299321	missense	probably benign	0.00
R1785:Ppfia4	UTSW	1	134299321	missense	probably benign	0.00
R1812:Ppfia4	UTSW	1	134324573	missense	probably benign	0.04
R2148:Ppfia4	UTSW	1	134312634	missense	probably benign	0.25
R2160:Ppfia4	UTSW	1	134313723	missense	probably benign	0.40
R2308:Ppfia4	UTSW	1	134332397	missense	possibly damaging	0.94
R2421:Ppfia4	UTSW	1	134327400	missense	probably benign	0.00
R3694:Ppfia4	UTSW	1	134312567	missense	probably damaging	1.00
R3707:Ppfia4	UTSW	1	134309660	missense	probably damaging	0.99
R3708:Ppfia4	UTSW	1	134309660	missense	probably damaging	0.99
R3725:Ppfia4	UTSW	1	134313711	missense	probably benign	0.04
R3964:Ppfia4	UTSW	1	134323016	missense	probably benign
R4889:Ppfia4	UTSW	1	134300514	missense	probably damaging	1.00
R4909:Ppfia4	UTSW	1	134332501	missense	probably damaging	0.97
R4939:Ppfia4	UTSW	1	134328079	missense	possibly damaging	0.67
R5226:Ppfia4	UTSW	1	134304286	critical splice donor site	probably null
R5433:Ppfia4	UTSW	1	134317894	missense	probably damaging	1.00
R5576:Ppfia4	UTSW	1	134323050	missense	possibly damaging	0.81
R5727:Ppfia4	UTSW	1	134324077	critical splice donor site	probably null
R5793:Ppfia4	UTSW	1	134312106	missense	probably damaging	1.00
R6193:Ppfia4	UTSW	1	134324161	missense	probably benign	0.04
R6216:Ppfia4	UTSW	1	134329183	missense	probably damaging	1.00
R6679:Ppfia4	UTSW	1	134309679	missense	probably damaging	1.00
R6742:Ppfia4	UTSW	1	134329171	missense	probably damaging	1.00
R7039:Ppfia4	UTSW	1	134312115	missense	probably damaging	0.97
R7206:Ppfia4	UTSW	1	134327389	missense	probably benign	0.00
R7259:Ppfia4	UTSW	1	134313100	missense	probably damaging	1.00
R7454:Ppfia4	UTSW	1	134324135	missense	possibly damaging	0.87
R8139:Ppfia4	UTSW	1	134300528	missense	probably benign	0.01
Z1176:Ppfia4	UTSW	1	134327379	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- CACGGGCATACTGAATACCAGGAAC -3'
(R):5'- ACACTGGAGCCTTGGGTCAAAGAG -3'

Sequencing Primer
(F):5'- TGACACCTAGAGTCATCTGTAGC -3'
(R):5'- TCAAAGAGGCTGTGCCAG -3'

Posted On

2013-10-16