Mutagenetix > Incidental Mutation

Incidental Mutation 'R4909:Ppfia4'

379253

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

042511-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R4909 (G1)

Quality Score

126

Status

Validated

Chromosome

Chromosomal Location

134224521-134260666 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 134260239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 8 (I8N)

Ref Sequence

ENSEMBL: ENSMUSP00000128314 (fasta)

Gene Model

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

AlphaFold

B8QI36

Predicted Effect

probably damaging
Transcript: ENSMUST00000168515
AA Change: I8N

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128314
Gene: ENSMUSG00000026458
AA Change: I8N

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 damaging
Transcript: ENSMUST00000189361
AA Change: I8N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139833
Gene: ENSMUSG00000026458
AA Change: I8N

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

Meta Mutation Damage Score

0.7995

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

97% (101/104)

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030C10Rik	A	T	12: 20,865,089 (GRCm39)		noncoding transcript	Het
Aars1	G	A	8: 111,781,715 (GRCm39)	G929D	probably damaging	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Actn4	A	T	7: 28,598,082 (GRCm39)	L506Q	probably damaging	Het
Adam26a	A	T	8: 44,023,475 (GRCm39)	F5Y	probably benign	Het
Adamts5	G	A	16: 85,696,954 (GRCm39)	Q68*	probably null	Het
Adcy9	A	G	16: 4,116,618 (GRCm39)	I871T	probably benign	Het
Ak5	A	T	3: 152,361,514 (GRCm39)	L136H	probably damaging	Het
Ap1g2	A	G	14: 55,342,483 (GRCm39)		probably null	Het
Ap2a1	G	A	7: 44,555,805 (GRCm39)	T355M	probably damaging	Het
Ap3s2	T	C	7: 79,564,989 (GRCm39)	D60G	possibly damaging	Het
Apold1	G	A	6: 134,960,558 (GRCm39)	R4Q	probably benign	Het
Atp13a5	G	T	16: 29,152,846 (GRCm39)	Q207K	possibly damaging	Het
BC035947	A	C	1: 78,474,666 (GRCm39)	I622S	probably damaging	Het
Bmper	G	T	9: 23,289,021 (GRCm39)	V339F	probably benign	Het
Btbd8	C	T	5: 107,655,176 (GRCm39)	Q992*	probably null	Het
C1ra	A	G	6: 124,499,293 (GRCm39)	D493G	probably damaging	Het
C3	C	T	17: 57,533,830 (GRCm39)		probably null	Het
Cabp4	T	A	19: 4,187,120 (GRCm39)	I209F	possibly damaging	Het
Cacna1s	A	T	1: 136,007,342 (GRCm39)	H453L	probably damaging	Het
Camk2g	A	G	14: 20,842,652 (GRCm39)	V32A	probably benign	Het
Ccdc175	G	A	12: 72,206,527 (GRCm39)	R240C	probably damaging	Het
Cdk13	C	T	13: 17,946,988 (GRCm39)	S590N	possibly damaging	Het
Cfap45	A	T	1: 172,357,443 (GRCm39)	T24S	probably benign	Het
Clca3a1	T	G	3: 144,730,324 (GRCm39)	K174Q	probably damaging	Het
Col1a2	G	A	6: 4,529,058 (GRCm39)		probably benign	Het
Colgalt1	A	T	8: 72,073,277 (GRCm39)	I323F	possibly damaging	Het
Cpeb3	A	T	19: 37,152,059 (GRCm39)	S106T	probably damaging	Het
Cpeb3	T	C	19: 37,151,633 (GRCm39)	S248G	possibly damaging	Het
Ctcfl	C	T	2: 172,937,191 (GRCm39)	A576T	probably benign	Het
Cyp4f16	T	G	17: 32,769,295 (GRCm39)	V395G	possibly damaging	Het
Dchs1	C	T	7: 105,415,462 (GRCm39)	G605S	probably damaging	Het
Egflam	A	T	15: 7,249,110 (GRCm39)	F903I	probably damaging	Het
Eif5a	G	A	11: 69,808,311 (GRCm39)	A62V	possibly damaging	Het
Fam217a	A	G	13: 35,094,389 (GRCm39)	S609P	probably damaging	Het
Fhad1	T	A	4: 141,712,822 (GRCm39)	I206F	probably benign	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Fras1	T	A	5: 96,856,617 (GRCm39)	M2000K	probably benign	Het
Frmd5	C	T	2: 121,422,134 (GRCm39)		probably null	Het
Gle1	T	C	2: 29,826,092 (GRCm39)	L57P	probably benign	Het
Glrx3	C	A	7: 137,046,765 (GRCm39)	N52K	probably damaging	Het
Grin3b	A	G	10: 79,812,938 (GRCm39)	*1004W	probably null	Het
Hectd4	T	A	5: 121,401,954 (GRCm39)	F347L	probably benign	Het
Htra1	G	A	7: 130,586,802 (GRCm39)	V462I	probably benign	Het
Itga11	A	G	9: 62,662,581 (GRCm39)	Y518C	probably damaging	Het
Krtap15-1	T	C	16: 88,626,253 (GRCm39)	F88L	probably benign	Het
Ktn1	A	T	14: 47,943,917 (GRCm39)	R866W	probably damaging	Het
Lamb1	G	A	12: 31,338,280 (GRCm39)	R483H	probably damaging	Het
Megf6	C	T	4: 154,349,848 (GRCm39)	R983C	probably damaging	Het
Mybpc3	T	A	2: 90,965,157 (GRCm39)	D1075E	probably benign	Het
Myo7b	A	T	18: 32,097,489 (GRCm39)	N1792K	probably benign	Het
Nabp2	A	T	10: 128,237,556 (GRCm39)		probably benign	Het
Neil3	A	G	8: 54,091,928 (GRCm39)	C7R	probably damaging	Het
Nxpe2	T	A	9: 48,230,897 (GRCm39)	I491F	possibly damaging	Het
Obscn	A	G	11: 58,952,291 (GRCm39)	V4292A	possibly damaging	Het
Ogfod3	A	G	11: 121,088,318 (GRCm39)	S139P	probably damaging	Het
Oog2	T	C	4: 143,921,669 (GRCm39)	I211T	possibly damaging	Het
Oosp1	T	C	19: 11,666,080 (GRCm39)	D70G	probably benign	Het
Or10j2	A	T	1: 173,098,546 (GRCm39)	D268V	probably damaging	Het
Or1ab2	A	G	8: 72,863,425 (GRCm39)	N5S	probably damaging	Het
Or56a42-ps1	C	A	7: 104,777,435 (GRCm39)	V70L	probably benign	Het
Or6c210	A	G	10: 129,496,589 (GRCm39)	I305V	probably benign	Het
Padi3	T	C	4: 140,522,937 (GRCm39)	D345G	probably damaging	Het
Pcyt2	A	G	11: 120,506,246 (GRCm39)	F71L	probably benign	Het
Pi4k2b	T	C	5: 52,911,971 (GRCm39)		probably benign	Het
Pigr	A	C	1: 130,776,195 (GRCm39)	T577P	possibly damaging	Het
Pirb	G	A	7: 3,722,361 (GRCm39)	Q161*	probably null	Het
Pnlip	A	G	19: 58,664,672 (GRCm39)	E204G	possibly damaging	Het
Pop7	G	T	5: 137,500,161 (GRCm39)	D57E	probably benign	Het
Pprc1	A	G	19: 46,052,758 (GRCm39)	T759A	probably damaging	Het
Prom1	T	C	5: 44,202,894 (GRCm39)	N213S	probably benign	Het
Prop1	GCTTCACT	GCTTCACTTCACT	11: 50,842,863 (GRCm39)		probably null	Het
Prop1	A	T	11: 50,842,872 (GRCm39)	L105H	probably damaging	Het
Pwp2	A	T	10: 78,018,328 (GRCm39)	M121K	possibly damaging	Het
Rap1gds1	A	T	3: 138,689,509 (GRCm39)	M161K	possibly damaging	Het
Rps6kb2	T	A	19: 4,207,002 (GRCm39)		probably benign	Het
Rxfp1	A	G	3: 79,552,109 (GRCm39)	S731P	probably benign	Het
Scfd1	T	C	12: 51,437,195 (GRCm39)	V137A	probably benign	Het
Slc6a15	G	A	10: 103,240,275 (GRCm39)	D333N	probably damaging	Het
Sqor	T	C	2: 122,627,101 (GRCm39)	V74A	possibly damaging	Het
Stil	T	A	4: 114,881,422 (GRCm39)	Y655*	probably null	Het
Syt14	A	T	1: 192,581,167 (GRCm39)	I468K	probably damaging	Het
Tbc1d31	T	C	15: 57,825,661 (GRCm39)		probably null	Het
Tspyl5	A	T	15: 33,686,995 (GRCm39)	S317T	probably damaging	Het
Ttf1	C	T	2: 28,954,668 (GRCm39)	H11Y	possibly damaging	Het
Ttf2	T	C	3: 100,861,631 (GRCm39)	T620A	probably damaging	Het
Usp32	G	A	11: 84,946,598 (GRCm39)	Q269*	probably null	Het
Vsig10	T	A	5: 117,476,308 (GRCm39)	V254E	probably benign	Het
Wdr6	C	T	9: 108,450,187 (GRCm39)	A1114T	probably benign	Het
Zfp280d	A	G	9: 72,238,714 (GRCm39)	S63G	probably damaging	Het
Zfp607b	A	G	7: 27,403,221 (GRCm39)	D559G	probably benign	Het
Zfp934	T	C	13: 62,665,768 (GRCm39)	H291R	probably damaging	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
R2308:Ppfia4	UTSW	1	134,260,135 (GRCm39)	missense	possibly damaging	0.94
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
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'- TGGAACCTTACCTGGGGAAG -3'
(R):5'- AACTGATGTCATGGGAGAAGCC -3'

Sequencing Primer
(F):5'- GAGCTGATCTCGCTCGTGAAG -3'
(R):5'- GGAGAAGCCCCTACCCAACTG -3'

Posted On

2016-04-15