Mutagenetix > Incidental Mutation

Incidental Mutation 'R4994:Ppfia3'

385096

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

MMRRC Submission

042588-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.278) question?

Stock #

R4994 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45339122-45367019 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45341118 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 919 (D919G)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003961] [ENSMUST00000085351] [ENSMUST00000210248] [ENSMUST00000211067] [ENSMUST00000211327]

AlphaFold

P60469

Predicted Effect

probably damaging
Transcript: ENSMUST00000003961
AA Change: D1079G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000003961
Gene: ENSMUSG00000003863
AA Change: D1079G

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: ENSMUST00000085351

SMART Domains

Protein: ENSMUSP00000082459
Gene: ENSMUSG00000038239

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	32	45	N/A	INTRINSIC
internal_repeat_1	51	146	8.76e-11	PROSPERO
low complexity region	154	189	N/A	INTRINSIC
Pfam:Hist_rich_Ca-bd	213	225	1e-4	PFAM
low complexity region	240	254	N/A	INTRINSIC
low complexity region	260	274	N/A	INTRINSIC
low complexity region	287	304	N/A	INTRINSIC
Pfam:Hist_rich_Ca-bd	308	324	2.2e-8	PFAM
low complexity region	340	353	N/A	INTRINSIC
low complexity region	362	382	N/A	INTRINSIC
internal_repeat_1	399	490	8.76e-11	PROSPERO
coiled coil region	536	565	N/A	INTRINSIC
low complexity region	571	582	N/A	INTRINSIC
coiled coil region	594	621	N/A	INTRINSIC
low complexity region	632	648	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107779
AA Change: D1079G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103408
Gene: ENSMUSG00000003863
AA Change: D1079G

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

noncoding transcript
Transcript: ENSMUST00000127948
AA Change: T15A

Predicted Effect

probably damaging
Transcript: ENSMUST00000137578
AA Change: D919G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118183
Gene: ENSMUSG00000003863
AA Change: D919G

Domain	Start	End	E-Value	Type
coiled coil region	16	275	N/A	INTRINSIC
coiled coil region	297	349	N/A	INTRINSIC
low complexity region	383	399	N/A	INTRINSIC
coiled coil region	446	491	N/A	INTRINSIC
low complexity region	500	521	N/A	INTRINSIC
low complexity region	556	568	N/A	INTRINSIC
SAM	684	753	1.46e-10	SMART
SAM	790	857	8.22e-5	SMART
SAM	878	950	3.58e-5	SMART
low complexity region	996	1009	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000210248
AA Change: D919G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210479

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210586

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210844

Predicted Effect

probably damaging
Transcript: ENSMUST00000211067
AA Change: D1079G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211098

Predicted Effect

probably benign
Transcript: ENSMUST00000211327

Meta Mutation Damage Score

0.7001

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (79/79)

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
1190002N15Rik	C	A	9: 94,537,433	R148L	probably benign	Het
1700030K09Rik	A	G	8: 72,455,118	E364G	probably benign	Het
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
Abcb4	A	G	5: 8,928,524	T557A	probably damaging	Het
Acadm	C	T	3: 153,929,584	E298K	probably damaging	Het
Adrb3	T	C	8: 27,227,827		probably null	Het
Aldh1b1	A	G	4: 45,803,128	Y222C	possibly damaging	Het
Ankrd6	A	G	4: 32,860,387	Y19H	probably damaging	Het
Arhgap21	T	A	2: 20,849,890	T1554S	probably benign	Het
BC043934	T	C	9: 96,437,120		noncoding transcript	Het
Birc6	A	G	17: 74,594,324		probably benign	Het
Blm	A	C	7: 80,458,825	F1357C	probably benign	Het
Cd209a	T	C	8: 3,747,713		probably null	Het
Cdk7	G	A	13: 100,717,595	H129Y	probably damaging	Het
Clec14a	G	T	12: 58,268,284	P184Q	probably damaging	Het
Cma1	T	A	14: 55,941,671	I243F	probably damaging	Het
Cntnap3	G	T	13: 64,761,984	T769K	possibly damaging	Het
Col5a1	A	C	2: 28,032,739	K273T	possibly damaging	Het
Csnk1e	A	G	15: 79,424,929	Y266H	probably damaging	Het
Cyb5d1	A	G	11: 69,393,771	L185S	probably damaging	Het
Dennd5b	T	C	6: 149,041,500		probably null	Het
Drp2	G	A	X: 134,441,316	R567H	probably damaging	Homo
Dzank1	T	G	2: 144,522,566	D37A	probably damaging	Het
Echdc2	A	G	4: 108,165,628	I34V	probably benign	Het
Esm1	A	T	13: 113,213,431	R128S	probably benign	Het
Fbrsl1	A	G	5: 110,447,951	S73P	probably damaging	Het
Fbxo18	T	A	2: 11,764,230	I251F	probably damaging	Het
Fbxo6	A	T	4: 148,149,491	S49R	probably damaging	Het
Gm13089	T	A	4: 143,698,369	Q168L	possibly damaging	Het
Gm17093	A	T	14: 44,519,322	Q82L	probably damaging	Het
Hmcn2	T	C	2: 31,458,055		probably null	Het
Hspa4l	C	A	3: 40,745,649		probably benign	Het
Il3ra	G	A	14: 14,351,080	A201T	probably benign	Het
Irx5	T	A	8: 92,360,781	V447E	probably damaging	Het
Kif14	G	T	1: 136,482,959	L668F	probably damaging	Het
Lag3	T	A	6: 124,904,453	R519W	unknown	Het
Lgr4	A	G	2: 110,011,938	N756S	probably damaging	Het
Lingo4	A	G	3: 94,402,541	H262R	probably benign	Het
Lingo4	T	A	3: 94,403,001	H415Q	probably benign	Het
Lkaaear1	C	A	2: 181,697,583	G25*	probably null	Het
Marf1	T	C	16: 14,114,231	K1641E	probably benign	Het
Mtfmt	T	C	9: 65,443,851		probably benign	Het
Mtif3	G	A	5: 146,956,788	T203M	probably benign	Het
Mycbp2	A	G	14: 103,169,994	I2740T	probably benign	Het
Nrd1	A	G	4: 109,046,612	T720A	probably benign	Het
Olfr715	T	C	7: 107,129,064	T110A	probably benign	Het
Peak1	T	A	9: 56,241,276	D32V	possibly damaging	Het
Pigr	G	A	1: 130,841,817	D122N	probably benign	Het
Plekhg3	A	G	12: 76,565,537	R391G	possibly damaging	Het
Rnase2b	T	A	14: 51,162,751	D96E	possibly damaging	Het
Rsf1	CGGCGGC	CGGCGGCCGCGGCGGC	7: 97,579,923		probably benign	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Het
Serpina3f	A	G	12: 104,220,356	T394A	probably benign	Het
Six3	A	G	17: 85,621,292	N18S	possibly damaging	Het
Slc12a5	T	A	2: 164,983,365		probably null	Het
Slc35f6	A	G	5: 30,648,083	N21S	probably damaging	Het
Slc39a6	A	T	18: 24,596,294	I454N	probably damaging	Het
Slc40a1	T	A	1: 45,909,664	E485D	probably damaging	Het
Sort1	G	A	3: 108,328,069	C255Y	probably damaging	Het
Stab2	T	A	10: 86,949,907	T624S	probably benign	Het
Stk33	T	A	7: 109,340,398	I99L	probably benign	Het
Taf4b	T	A	18: 14,898,043	I828N	probably damaging	Het
Terf2	T	C	8: 107,076,478		probably benign	Het
Timd4	C	T	11: 46,815,517	R49C	probably damaging	Het
Tmem57	A	G	4: 134,828,299	Y288H	probably damaging	Het
Tpte	T	C	8: 22,318,346	S166P	probably benign	Het
Trabd2b	T	C	4: 114,406,855	L13P	probably benign	Het
Trappc11	A	T	8: 47,522,441	Y247*	probably null	Het
Trnt1	C	T	6: 106,778,892	Q303*	probably null	Het
Tspyl5	T	A	15: 33,687,055	Q248L	possibly damaging	Het
Ubxn7	A	T	16: 32,381,504	K337N	probably damaging	Het
Unc13a	T	A	8: 71,643,172	I1234F	probably benign	Het
Vmn1r127	A	T	7: 21,319,018	F282I	probably damaging	Het
Wdhd1	A	T	14: 47,268,654		probably null	Het
Zfp605	A	G	5: 110,127,486	K157E	probably damaging	Het
Zhx2	T	A	15: 57,821,359	D41E	probably benign	Het

Other mutations in Ppfia3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01783:Ppfia3	APN	7	45360057	splice site	probably null
IGL02086:Ppfia3	APN	7	45340572	unclassified	probably benign
IGL02160:Ppfia3	APN	7	45360051	splice site	probably benign
IGL02373:Ppfia3	APN	7	45358849	missense	probably damaging	0.98
IGL02417:Ppfia3	APN	7	45341717	missense	probably damaging	0.98
IGL02501:Ppfia3	APN	7	45354938	splice site	probably benign
IGL02638:Ppfia3	APN	7	45356668	missense	probably damaging	1.00
IGL03084:Ppfia3	APN	7	45340227	missense	probably benign	0.00
R0207:Ppfia3	UTSW	7	45348534	missense	probably damaging	1.00
R0962:Ppfia3	UTSW	7	45347722	splice site	probably benign
R1086:Ppfia3	UTSW	7	45361758	missense	probably damaging	1.00
R1146:Ppfia3	UTSW	7	45352215	missense	probably benign	0.19
R1146:Ppfia3	UTSW	7	45352215	missense	probably benign	0.19
R1566:Ppfia3	UTSW	7	45340688	missense	probably damaging	1.00
R1677:Ppfia3	UTSW	7	45356666	missense	probably benign	0.03
R1876:Ppfia3	UTSW	7	45352207	missense	possibly damaging	0.75
R2219:Ppfia3	UTSW	7	45354890	nonsense	probably null
R2336:Ppfia3	UTSW	7	45356697	splice site	probably null
R2843:Ppfia3	UTSW	7	45356428	missense	probably damaging	1.00
R2844:Ppfia3	UTSW	7	45356428	missense	probably damaging	1.00
R2846:Ppfia3	UTSW	7	45356428	missense	probably damaging	1.00
R4669:Ppfia3	UTSW	7	45352093	missense	probably damaging	1.00
R4777:Ppfia3	UTSW	7	45341157	missense	probably damaging	1.00
R4787:Ppfia3	UTSW	7	45340626	missense	possibly damaging	0.89
R5042:Ppfia3	UTSW	7	45342341	missense	probably damaging	1.00
R5821:Ppfia3	UTSW	7	45353616	missense	probably damaging	0.96
R6116:Ppfia3	UTSW	7	45354703	missense	probably damaging	1.00
R6515:Ppfia3	UTSW	7	45340233	missense	possibly damaging	0.94
R6868:Ppfia3	UTSW	7	45353612	missense	probably damaging	1.00
R6920:Ppfia3	UTSW	7	45358807	missense	possibly damaging	0.46
R6935:Ppfia3	UTSW	7	45352207	missense	possibly damaging	0.47
R6978:Ppfia3	UTSW	7	45346848	missense	probably benign	0.02
R7017:Ppfia3	UTSW	7	45358800	missense	probably benign
R7027:Ppfia3	UTSW	7	45354736	missense	possibly damaging	0.80
R7078:Ppfia3	UTSW	7	45360595	missense	probably damaging	1.00
R7256:Ppfia3	UTSW	7	45341743	missense	probably benign	0.43
R7378:Ppfia3	UTSW	7	45361446	splice site	probably null
R7570:Ppfia3	UTSW	7	45340748	critical splice acceptor site	probably null
R7814:Ppfia3	UTSW	7	45352262	missense	probably benign
R8298:Ppfia3	UTSW	7	45360194	missense	probably damaging	1.00
R8712:Ppfia3	UTSW	7	45361705	missense	probably benign	0.43
R8781:Ppfia3	UTSW	7	45348529	missense	possibly damaging	0.94
R8843:Ppfia3	UTSW	7	45348517	missense	probably benign	0.02
R8901:Ppfia3	UTSW	7	45341717	missense	probably damaging	1.00
R8984:Ppfia3	UTSW	7	45340676	missense	probably damaging	1.00
R9149:Ppfia3	UTSW	7	45350293	critical splice acceptor site	probably null
R9284:Ppfia3	UTSW	7	45361798	missense	probably damaging	1.00
R9427:Ppfia3	UTSW	7	45358789	missense	possibly damaging	0.46
R9683:Ppfia3	UTSW	7	45356575	missense	probably benign	0.29
R9803:Ppfia3	UTSW	7	45341115	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTCTGTGCCTAAGGAGATGAGG -3'
(R):5'- GGAGCCAGCATAGAGATTTAGC -3'

Sequencing Primer
(F):5'- AGGTTACTGAATTCTTTCTCCAGCAG -3'
(R):5'- CCAGCATAGAGATTTAGCTAGGC -3'

Posted On

2016-05-10