Mutagenetix > Incidental Mutation

Incidental Mutation 'R2308:Ppfia4'

244665

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

Liprin-alpha4, 1110008G13Rik, Gm3812, LOC100042382

MMRRC Submission

040307-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R2308 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134224521-134260666 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134260135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 43 (S43P)

Ref Sequence

ENSEMBL: ENSMUSP00000128314 (fasta)

Gene Model

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

AlphaFold

B8QI36

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168515
AA Change: S43P

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128314
Gene: ENSMUSG00000026458
AA Change: S43P

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

possibly damaging
Transcript: ENSMUST00000189361
AA Change: S43P

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139833
Gene: ENSMUSG00000026458
AA Change: S43P

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: 99.4%
3x: 98.6%
10x: 96.9%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Depdc1b	G	A	13: 108,510,375 (GRCm39)	V296I	possibly damaging	Het
Dot1l	T	C	10: 80,624,903 (GRCm39)	S907P	probably damaging	Het
Epha7	G	A	4: 28,821,503 (GRCm39)	E223K	possibly damaging	Het
Ercc6	T	C	14: 32,288,366 (GRCm39)	I846T	possibly damaging	Het
Exoc4	A	G	6: 33,895,503 (GRCm39)	Y840C	probably damaging	Het
Gramd1a	T	C	7: 30,839,215 (GRCm39)	D231G	probably damaging	Het
Mark2	A	C	19: 7,259,299 (GRCm39)	S90A	probably damaging	Het
Mbd1	A	G	18: 74,409,548 (GRCm39)	Q432R	probably benign	Het
Mcm2	G	A	6: 88,869,990 (GRCm39)	R60C	probably damaging	Het
Met	T	C	6: 17,491,741 (GRCm39)	S168P	probably benign	Het
Nup210	T	C	6: 91,017,850 (GRCm39)	I304V	probably benign	Het
Or1ak2	T	A	2: 36,827,312 (GRCm39)	Y60*	probably null	Het
Or4a27	T	A	2: 88,559,428 (GRCm39)	I172F	probably damaging	Het
Rbbp8	A	T	18: 11,829,833 (GRCm39)	K132I	possibly damaging	Het
Rpap1	G	A	2: 119,614,247 (GRCm39)	P50L	probably benign	Het
Slc41a3	T	A	6: 90,589,102 (GRCm39)	I71K	possibly damaging	Het
Spaca7	A	T	8: 12,648,959 (GRCm39)	N127I	probably benign	Het
Stkld1	A	T	2: 26,842,726 (GRCm39)	D566V	probably damaging	Het
Tbxas1	A	G	6: 39,004,595 (GRCm39)	M281V	probably benign	Het
Txnl1	T	C	18: 63,804,691 (GRCm39)	T268A	probably benign	Het
Unc80	A	T	1: 66,688,156 (GRCm39)	I2385F	possibly damaging	Het
Vmn2r118	A	G	17: 55,931,650 (GRCm39)	I8T	probably benign	Het
Vmn2r80	T	C	10: 79,007,455 (GRCm39)	F477S	probably damaging	Het
Ythdc2	A	G	18: 44,980,815 (GRCm39)	E470G	possibly damaging	Het
Zfp352	A	G	4: 90,113,480 (GRCm39)	K540R	probably benign	Het

Other mutations in Ppfia4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01371:Ppfia4	APN	1	134,255,824 (GRCm39)	missense	probably benign	0.00
IGL01935:Ppfia4	APN	1	134,245,674 (GRCm39)	missense	probably benign	0.02
IGL02008:Ppfia4	APN	1	134,260,129 (GRCm39)	missense	probably damaging	1.00
R0037:Ppfia4	UTSW	1	134,251,827 (GRCm39)	missense	probably damaging	1.00
R0084:Ppfia4	UTSW	1	134,227,164 (GRCm39)	missense	possibly damaging	0.84
R0108:Ppfia4	UTSW	1	134,251,955 (GRCm39)	splice site	probably null
R0109:Ppfia4	UTSW	1	134,251,955 (GRCm39)	splice site	probably null
R0109:Ppfia4	UTSW	1	134,251,955 (GRCm39)	splice site	probably null
R0238:Ppfia4	UTSW	1	134,256,927 (GRCm39)	missense	possibly damaging	0.89
R0238:Ppfia4	UTSW	1	134,256,927 (GRCm39)	missense	possibly damaging	0.89
R0239:Ppfia4	UTSW	1	134,256,927 (GRCm39)	missense	possibly damaging	0.89
R0239:Ppfia4	UTSW	1	134,256,927 (GRCm39)	missense	possibly damaging	0.89
R0254:Ppfia4	UTSW	1	134,251,962 (GRCm39)	splice site	probably benign
R0445:Ppfia4	UTSW	1	134,255,027 (GRCm39)	missense	probably benign	0.31
R0504:Ppfia4	UTSW	1	134,251,851 (GRCm39)	missense	probably damaging	1.00
R0617:Ppfia4	UTSW	1	134,256,518 (GRCm39)	missense	probably damaging	1.00
R0839:Ppfia4	UTSW	1	134,256,545 (GRCm39)	missense	probably null	1.00
R0849:Ppfia4	UTSW	1	134,247,110 (GRCm39)	missense	probably benign	0.45
R0898:Ppfia4	UTSW	1	134,248,864 (GRCm39)	missense	probably benign
R1173:Ppfia4	UTSW	1	134,260,021 (GRCm39)	splice site	probably benign
R1728:Ppfia4	UTSW	1	134,227,059 (GRCm39)	missense	probably benign	0.00
R1729:Ppfia4	UTSW	1	134,227,059 (GRCm39)	missense	probably benign	0.00
R1730:Ppfia4	UTSW	1	134,227,059 (GRCm39)	missense	probably benign	0.00
R1762:Ppfia4	UTSW	1	134,227,059 (GRCm39)	missense	probably benign	0.00
R1783:Ppfia4	UTSW	1	134,227,059 (GRCm39)	missense	probably benign	0.00
R1784:Ppfia4	UTSW	1	134,227,059 (GRCm39)	missense	probably benign	0.00
R1785:Ppfia4	UTSW	1	134,227,059 (GRCm39)	missense	probably benign	0.00
R1812:Ppfia4	UTSW	1	134,252,311 (GRCm39)	missense	probably benign	0.04
R2148:Ppfia4	UTSW	1	134,240,372 (GRCm39)	missense	probably benign	0.25
R2160:Ppfia4	UTSW	1	134,241,461 (GRCm39)	missense	probably benign	0.40
R2421:Ppfia4	UTSW	1	134,255,138 (GRCm39)	missense	probably benign	0.00
R3694:Ppfia4	UTSW	1	134,240,305 (GRCm39)	missense	probably damaging	1.00
R3707:Ppfia4	UTSW	1	134,237,398 (GRCm39)	missense	probably damaging	0.99
R3708:Ppfia4	UTSW	1	134,237,398 (GRCm39)	missense	probably damaging	0.99
R3725:Ppfia4	UTSW	1	134,241,449 (GRCm39)	missense	probably benign	0.04
R3964:Ppfia4	UTSW	1	134,250,754 (GRCm39)	missense	probably benign
R4889:Ppfia4	UTSW	1	134,228,252 (GRCm39)	missense	probably damaging	1.00
R4909:Ppfia4	UTSW	1	134,260,239 (GRCm39)	missense	probably damaging	0.97
R4939:Ppfia4	UTSW	1	134,255,817 (GRCm39)	missense	possibly damaging	0.67
R5226:Ppfia4	UTSW	1	134,232,024 (GRCm39)	critical splice donor site	probably null
R5433:Ppfia4	UTSW	1	134,245,632 (GRCm39)	missense	probably damaging	1.00
R5576:Ppfia4	UTSW	1	134,250,788 (GRCm39)	missense	possibly damaging	0.81
R5727:Ppfia4	UTSW	1	134,251,815 (GRCm39)	critical splice donor site	probably null
R5793:Ppfia4	UTSW	1	134,239,844 (GRCm39)	missense	probably damaging	1.00
R6193:Ppfia4	UTSW	1	134,251,899 (GRCm39)	missense	probably benign	0.04
R6216:Ppfia4	UTSW	1	134,256,921 (GRCm39)	missense	probably damaging	1.00
R6679:Ppfia4	UTSW	1	134,237,417 (GRCm39)	missense	probably damaging	1.00
R6742:Ppfia4	UTSW	1	134,256,909 (GRCm39)	missense	probably damaging	1.00
R7039:Ppfia4	UTSW	1	134,239,853 (GRCm39)	missense	probably damaging	0.97
R7206:Ppfia4	UTSW	1	134,255,127 (GRCm39)	missense	probably benign	0.00
R7259:Ppfia4	UTSW	1	134,240,838 (GRCm39)	missense	probably damaging	1.00
R7454:Ppfia4	UTSW	1	134,251,873 (GRCm39)	missense	possibly damaging	0.87
R8139:Ppfia4	UTSW	1	134,228,266 (GRCm39)	missense	probably benign	0.01
R8878:Ppfia4	UTSW	1	134,227,122 (GRCm39)	missense
R8970:Ppfia4	UTSW	1	134,252,289 (GRCm39)	missense	probably damaging	1.00
R9065:Ppfia4	UTSW	1	134,251,893 (GRCm39)	missense	possibly damaging	0.71
R9087:Ppfia4	UTSW	1	134,240,326 (GRCm39)	missense	probably damaging	1.00
R9187:Ppfia4	UTSW	1	134,255,006 (GRCm39)	missense	probably damaging	0.99
R9308:Ppfia4	UTSW	1	134,245,556 (GRCm39)	missense	probably benign	0.30
R9424:Ppfia4	UTSW	1	134,247,044 (GRCm39)	missense	possibly damaging	0.67
R9522:Ppfia4	UTSW	1	134,240,886 (GRCm39)	missense	probably damaging	1.00
R9687:Ppfia4	UTSW	1	134,245,694 (GRCm39)	missense	probably benign	0.01
Z1176:Ppfia4	UTSW	1	134,255,117 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- TCCAGTATGTGATGTGCAAAGAG -3'
(R):5'- ACTGATGTCATGGGAGAAGCC -3'

Sequencing Primer
(F):5'- GATGCAGAGACTGAAGGGCC -3'
(R):5'- GCACTGCCTGTTCTGAGAC -3'

Posted On

2014-10-30