Mutagenetix > Incidental Mutation

Incidental Mutation 'R1677:Ppfia3'

188184

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

039713-MU

Accession Numbers

Essential gene?

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

Stock #

R1677 (G1)

Quality Score

202

Status

Validated

Chromosome

Chromosomal Location

44988550-45016443 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45006090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 301 (M301L)

Ref Sequence

ENSEMBL: ENSMUSP00000148200 (fasta)

Gene Model

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

AlphaFold

P60469

Predicted Effect

probably benign
Transcript: ENSMUST00000003961
AA Change: M301L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000003961
Gene: ENSMUSG00000003863
AA Change: M301L

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
AA Change: M150L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210479

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210586

Predicted Effect

probably benign
Transcript: ENSMUST00000211067
AA Change: M301L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

Meta Mutation Damage Score

0.0686

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

100% (95/95)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	T	11: 23,467,357 (GRCm39)	M92K	probably benign	Het
4931406C07Rik	T	C	9: 15,212,660 (GRCm39)		probably null	Het
A430005L14Rik	G	A	4: 154,045,357 (GRCm39)	V129M	probably damaging	Het
Actg2	T	C	6: 83,499,801 (GRCm39)	T150A	possibly damaging	Het
Actn1	A	T	12: 80,306,806 (GRCm39)	D20E	probably benign	Het
Alcam	C	T	16: 52,091,136 (GRCm39)	E461K	probably damaging	Het
Anapc1	G	A	2: 128,518,128 (GRCm39)	P242L	probably benign	Het
Ankrd49	A	T	9: 14,692,674 (GRCm39)	D163E	probably benign	Het
Atp8b5	G	A	4: 43,372,903 (GRCm39)	R1149Q	possibly damaging	Het
Cacnb3	G	T	15: 98,540,455 (GRCm39)	V328F	probably damaging	Het
Camk4	T	C	18: 33,309,275 (GRCm39)	I226T	probably damaging	Het
Ccdc148	T	C	2: 58,892,176 (GRCm39)	D172G	probably damaging	Het
Cdh12	A	G	15: 21,520,491 (GRCm39)	I319V	probably damaging	Het
Cenpc1	T	C	5: 86,209,857 (GRCm39)		probably benign	Het
Cfap69	A	C	5: 5,632,457 (GRCm39)	N15K	probably damaging	Het
Ckap2l	A	C	2: 129,127,087 (GRCm39)	S364A	possibly damaging	Het
Clic6	G	A	16: 92,324,972 (GRCm39)	G36R	probably damaging	Het
Col6a3	T	C	1: 90,749,583 (GRCm39)	Y417C	probably benign	Het
Cstf3	T	A	2: 104,494,623 (GRCm39)		probably benign	Het
Cyp4f39	G	A	17: 32,711,304 (GRCm39)	A484T	probably benign	Het
Dnah3	T	C	7: 119,527,963 (GRCm39)	N3829D	probably damaging	Het
Dntt	C	A	19: 41,017,923 (GRCm39)	P16T	probably benign	Het
Dym	T	A	18: 75,258,583 (GRCm39)	I447N	probably damaging	Het
Elmo1	T	C	13: 20,773,841 (GRCm39)	V617A	probably benign	Het
Elovl7	G	A	13: 108,419,160 (GRCm39)	G264D	probably damaging	Het
Epha7	T	A	4: 28,947,571 (GRCm39)	Y610*	probably null	Het
Fn1	T	C	1: 71,636,814 (GRCm39)	I178V	probably benign	Het
Fndc9	T	C	11: 46,129,152 (GRCm39)	Y224H	probably benign	Het
Gad1	T	C	2: 70,404,521 (GRCm39)	V137A	probably damaging	Het
Gapvd1	A	G	2: 34,590,773 (GRCm39)		probably null	Het
Gbp11	C	T	5: 105,475,277 (GRCm39)	C357Y	probably damaging	Het
Gcc1	G	A	6: 28,419,163 (GRCm39)	A390V	probably benign	Het
Gm6811	A	G	17: 21,314,185 (GRCm39)		noncoding transcript	Het
Htt	A	T	5: 34,985,918 (GRCm39)	D1063V	probably damaging	Het
Igfn1	C	T	1: 135,898,839 (GRCm39)	A576T	probably damaging	Het
Il12rb2	T	C	6: 67,280,485 (GRCm39)	Y240C	probably damaging	Het
Itga3	T	C	11: 94,946,585 (GRCm39)	D747G	probably damaging	Het
Kcnip2	A	C	19: 45,782,979 (GRCm39)	D134E	probably damaging	Het
Kif2b	C	A	11: 91,466,798 (GRCm39)	R495I	probably damaging	Het
Lef1	T	C	3: 130,993,938 (GRCm39)		probably benign	Het
Lias	C	T	5: 65,548,981 (GRCm39)	R4C	probably damaging	Het
Lpcat2	T	C	8: 93,591,560 (GRCm39)	V68A	probably benign	Het
Lrrc37	A	T	11: 103,505,768 (GRCm39)	S2067T	probably benign	Het
Lrrc8e	A	T	8: 4,284,190 (GRCm39)	K138N	probably damaging	Het
Map4k5	G	A	12: 69,852,082 (GRCm39)	H767Y	probably benign	Het
Mga	C	A	2: 119,791,333 (GRCm39)	T2406K	possibly damaging	Het
Mtx1	A	T	3: 89,116,648 (GRCm39)	S418T	probably benign	Het
Myh7	C	T	14: 55,224,973 (GRCm39)	M531I	probably benign	Het
Myorg	C	T	4: 41,497,947 (GRCm39)	R561H	probably benign	Het
Ncaph2	T	A	15: 89,255,427 (GRCm39)	M555K	probably damaging	Het
Nckap1	C	T	2: 80,348,286 (GRCm39)	S889N	probably benign	Het
Ncoa6	T	C	2: 155,244,584 (GRCm39)		probably benign	Het
Nrp2	A	G	1: 62,822,479 (GRCm39)	S691G	probably benign	Het
Odad2	T	C	18: 7,222,554 (GRCm39)	T572A	probably benign	Het
Odf2l	A	T	3: 144,845,543 (GRCm39)		probably null	Het
Or5aq6	T	A	2: 86,923,081 (GRCm39)	H220L	probably benign	Het
Pcdh20	A	G	14: 88,705,410 (GRCm39)	V630A	probably damaging	Het
Pebp4	T	C	14: 70,285,923 (GRCm39)		probably null	Het
Ppp1r21	C	A	17: 88,858,097 (GRCm39)	Q203K	probably benign	Het
Prr23a1	T	C	9: 98,725,406 (GRCm39)	V256A	probably benign	Het
Rbfox1	A	G	16: 7,110,091 (GRCm39)	R150G	possibly damaging	Het
Rnps1-ps	A	T	6: 7,982,943 (GRCm39)		noncoding transcript	Het
Robo3	T	C	9: 37,329,005 (GRCm39)	R1238G	possibly damaging	Het
Rp9	T	G	9: 22,365,097 (GRCm39)	Q35P	probably damaging	Het
Rsrc1	C	A	3: 67,262,808 (GRCm39)	A254E	probably damaging	Het
Shtn1	T	A	19: 58,998,222 (GRCm39)	K390N	probably damaging	Het
Sidt2	C	T	9: 45,864,517 (GRCm39)	V71I	probably benign	Het
Sirt7	A	G	11: 120,515,365 (GRCm39)	V97A	possibly damaging	Het
Slc14a2	A	G	18: 78,206,419 (GRCm39)	S466P	probably benign	Het
Slc2a10	T	A	2: 165,357,361 (GRCm39)	D340E	probably benign	Het
Slc36a2	A	C	11: 55,075,735 (GRCm39)	N17K	probably benign	Het
Slc4a10	A	C	2: 62,155,071 (GRCm39)	N1086T	probably benign	Het
Sptb	T	C	12: 76,676,423 (GRCm39)	D177G	probably damaging	Het
Srpk2	A	T	5: 23,730,748 (GRCm39)		probably null	Het
Sucla2	T	G	14: 73,830,121 (GRCm39)	V386G	probably damaging	Het
Susd1	G	T	4: 59,424,089 (GRCm39)	N45K	possibly damaging	Het
Tbxas1	T	C	6: 38,994,822 (GRCm39)		probably benign	Het
Topors	C	T	4: 40,261,776 (GRCm39)	E503K	probably damaging	Het
Trpv5	T	C	6: 41,634,731 (GRCm39)	R533G	probably benign	Het
Tshr	A	G	12: 91,504,115 (GRCm39)	H351R	possibly damaging	Het
Ube2f	G	A	1: 91,203,037 (GRCm39)	V94M	probably damaging	Het
Ugdh	A	G	5: 65,580,521 (GRCm39)	S216P	probably damaging	Het
Unc45b	T	A	11: 82,802,531 (GRCm39)		probably null	Het
Vmn1r226	A	G	17: 20,908,335 (GRCm39)	E189G	probably damaging	Het
Xrcc6	T	G	15: 81,913,900 (GRCm39)	D75E	probably benign	Het
Ypel1	A	G	16: 16,921,474 (GRCm39)	L70P	probably damaging	Het
Zcwpw1	A	T	5: 137,795,022 (GRCm39)	R73W	probably damaging	Het
Zfp219	T	C	14: 52,246,512 (GRCm39)	E160G	probably damaging	Het
Zfp804b	G	T	5: 7,229,533 (GRCm39)		probably benign	Het
Zscan22	C	A	7: 12,640,730 (GRCm39)	P325T	probably damaging	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
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
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'- TCTTCACTCTGGGAGAGAAAGAGGC -3'
(R):5'- GATGGTGTGAACCTTCCCAAGAGAC -3'

Sequencing Primer
(F):5'- AGCCAAGGGGCTCAGTTAC -3'
(R):5'- agtcctcttgctttagcctc -3'

Posted On

2014-05-09