Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02517:Enpp3'

296855

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Enpp3

Ensembl Gene

ENSMUSG00000019989

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 3

Synonyms

CD203c

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

IGL02517

Quality Score

Status

Chromosome

Chromosomal Location

24772406-24842823 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 24809848 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151371 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020169] [ENSMUST00000217903] [ENSMUST00000219342]

AlphaFold

Q6DYE8

Predicted Effect

probably benign
Transcript: ENSMUST00000020169

SMART Domains

Protein: ENSMUSP00000020169
Gene: ENSMUSG00000019989

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC
SO	50	93	1.99e-13	SMART
SO	94	137	7.66e-15	SMART
Pfam:Phosphodiest	161	485	1.7e-87	PFAM
Blast:Endonuclease_NS	543	599	9e-15	BLAST
Endonuclease_NS	626	847	5.41e-16	SMART
NUC	627	856	1.54e-92	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000217903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218619

Predicted Effect

probably benign
Transcript: ENSMUST00000219342

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a series of ectoenzymes that are involved in hydrolysis of extracellular nucleotides. These ectoenzymes possess ATPase and ATP pyrophosphatase activities and are type II transmembrane proteins. Expression of the related rat mRNA has been found in a subset of immature glial cells and in the alimentary tract. The corresponding rat protein has been detected in the pancreas, small intestine, colon, and liver. The human mRNA is expressed in glioma cells, prostate, and uterus. Expression of the human protein has been detected in uterus, basophils, and mast cells. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knockout allele exhibit increased numbers of basophils and mast cells with increased susceptibility to chronic allergic responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 36,958,868	E1899G	probably damaging	Het
Acnat2	T	G	4: 49,380,647	M244L	possibly damaging	Het
Acnat2	A	T	4: 49,380,639	C228*	probably null	Het
Adam24	T	C	8: 40,680,179	S229P	probably damaging	Het
Alpk3	T	C	7: 81,077,895	S258P	probably benign	Het
Atad2b	A	G	12: 5,018,037	T1012A	probably benign	Het
C4b	A	T	17: 34,734,408	S1034T	probably benign	Het
Cd300ld2	T	A	11: 115,010,423	H277L	possibly damaging	Het
Chrna4	C	T	2: 181,029,133	V277I	probably benign	Het
Col3a1	A	G	1: 45,325,803		probably null	Het
Dpep2	C	T	8: 105,988,756	V369M	probably damaging	Het
Eml2	T	A	7: 19,206,130	N815K	probably damaging	Het
Git1	T	C	11: 77,499,587	V86A	probably benign	Het
Hivep2	C	T	10: 14,131,182	P1175S	probably benign	Het
Hydin	T	C	8: 110,566,972	I3517T	probably benign	Het
Ift172	T	A	5: 31,253,648		probably null	Het
Jmy	A	G	13: 93,452,808	I647T	probably benign	Het
Kifap3	T	A	1: 163,825,871		probably benign	Het
Lama3	G	A	18: 12,537,858		probably null	Het
Lipa	A	C	19: 34,494,122	I351S	possibly damaging	Het
Ltbp2	G	T	12: 84,785,317	A1631D	probably benign	Het
Masp2	A	G	4: 148,614,020	I519M	probably damaging	Het
Mfsd6	A	G	1: 52,663,277		probably benign	Het
Numa1	T	G	7: 102,012,009	D1846E	probably benign	Het
Olfr12	A	T	1: 92,620,461	Y185F	probably benign	Het
Olfr1440	A	T	19: 12,394,901	I213F	probably benign	Het
Olfr745	A	G	14: 50,643,201	T301A	probably benign	Het
Olfr918	T	C	9: 38,672,913	Y177C	probably damaging	Het
Olfr968	T	G	9: 39,772,504	T99P	probably damaging	Het
Oog3	A	T	4: 144,159,350	I226K	probably damaging	Het
Pkdcc	T	C	17: 83,223,866	S435P	probably damaging	Het
Ppm1g	A	G	5: 31,208,081	Y70H	probably damaging	Het
Prcc	C	T	3: 87,869,677	S330N	probably damaging	Het
Ror2	A	T	13: 53,118,840	L251Q	probably damaging	Het
Scn11a	A	G	9: 119,792,398	L651P	probably damaging	Het
Skint6	A	T	4: 112,948,540		probably benign	Het
Slc23a4	A	G	6: 34,954,982	F186L	probably benign	Het
Slc30a8	A	T	15: 52,335,134	D325V	probably benign	Het
Son	C	T	16: 91,655,211	T282M	possibly damaging	Het
Tas2r118	A	T	6: 23,969,892	F57I	probably damaging	Het
Tcf7l1	A	G	6: 72,629,983	S447P	probably benign	Het
Thsd1	T	A	8: 22,243,438	V167E	probably damaging	Het
Tle3	T	C	9: 61,414,781	V696A	probably damaging	Het
Tmem67	A	T	4: 12,069,463	I405K	possibly damaging	Het
Tmem71	A	C	15: 66,541,617	V202G	probably benign	Het
Trim6	T	C	7: 104,232,357		probably benign	Het
Trip12	A	G	1: 84,743,814		probably benign	Het
Ubr1	A	C	2: 120,864,373	C1693G	possibly damaging	Het
Ush2a	G	A	1: 188,915,998	R4600H	probably damaging	Het
Vil1	A	G	1: 74,426,692	I547M	probably benign	Het
Vmn1r219	A	T	13: 23,163,096	I152L	probably benign	Het
Vmn1r26	A	G	6: 58,009,142	F21L	possibly damaging	Het
Vmn2r45	T	A	7: 8,483,186	K368*	probably null	Het
Vmn2r68	C	T	7: 85,221,945	W710*	probably null	Het
Zfp808	T	A	13: 62,173,218	*754R	probably null	Het
Zyg11b	C	T	4: 108,266,318	E151K	probably damaging	Het

Other mutations in Enpp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Enpp3	APN	10	24787772	missense	probably benign	0.00
IGL00778:Enpp3	APN	10	24798262	missense	probably damaging	1.00
IGL01147:Enpp3	APN	10	24774907	missense	probably damaging	1.00
IGL01343:Enpp3	APN	10	24805922	nonsense	probably null
IGL01642:Enpp3	APN	10	24798269	missense	probably damaging	1.00
IGL01814:Enpp3	APN	10	24792025	missense	possibly damaging	0.68
IGL02083:Enpp3	APN	10	24776794	missense	probably damaging	1.00
IGL02152:Enpp3	APN	10	24774002	missense	probably damaging	1.00
IGL02186:Enpp3	APN	10	24791983	splice site	probably benign
IGL02956:Enpp3	APN	10	24774943	splice site	probably benign
R0017:Enpp3	UTSW	10	24799153	splice site	probably null
R0042:Enpp3	UTSW	10	24774824	missense	probably damaging	1.00
R0110:Enpp3	UTSW	10	24776781	missense	probably damaging	1.00
R0218:Enpp3	UTSW	10	24776869	missense	possibly damaging	0.80
R0403:Enpp3	UTSW	10	24804436	missense	probably damaging	1.00
R0433:Enpp3	UTSW	10	24820597	missense	probably benign	0.00
R0450:Enpp3	UTSW	10	24776781	missense	probably damaging	1.00
R0510:Enpp3	UTSW	10	24776781	missense	probably damaging	1.00
R0826:Enpp3	UTSW	10	24795716	missense	probably damaging	1.00
R1245:Enpp3	UTSW	10	24784953	splice site	probably benign
R1261:Enpp3	UTSW	10	24774934	missense	probably damaging	0.97
R1633:Enpp3	UTSW	10	24795782	missense	probably damaging	1.00
R1903:Enpp3	UTSW	10	24778789	missense	probably damaging	1.00
R1913:Enpp3	UTSW	10	24776771	nonsense	probably null
R1966:Enpp3	UTSW	10	24807491	missense	probably damaging	0.99
R2157:Enpp3	UTSW	10	24776878	missense	probably damaging	1.00
R2179:Enpp3	UTSW	10	24805895	missense	probably benign	0.00
R2380:Enpp3	UTSW	10	24776872	missense	probably benign
R2410:Enpp3	UTSW	10	24774818	missense	probably benign	0.00
R3794:Enpp3	UTSW	10	24831732	splice site	probably null
R3896:Enpp3	UTSW	10	24777949	missense	possibly damaging	0.79
R4334:Enpp3	UTSW	10	24793589	missense	probably damaging	1.00
R4569:Enpp3	UTSW	10	24776882	missense	probably damaging	1.00
R4766:Enpp3	UTSW	10	24773927	missense	probably damaging	1.00
R4951:Enpp3	UTSW	10	24798277	missense	probably damaging	1.00
R4998:Enpp3	UTSW	10	24807538	missense	probably benign	0.01
R5045:Enpp3	UTSW	10	24776767	missense	probably damaging	1.00
R5276:Enpp3	UTSW	10	24809916	missense	probably damaging	1.00
R5331:Enpp3	UTSW	10	24808160	missense	probably damaging	1.00
R5569:Enpp3	UTSW	10	24778821	missense	probably damaging	0.98
R5975:Enpp3	UTSW	10	24774842	missense	probably benign	0.37
R6117:Enpp3	UTSW	10	24787852	missense	probably damaging	1.00
R6419:Enpp3	UTSW	10	24808191	missense	probably damaging	1.00
R6677:Enpp3	UTSW	10	24777957	missense	possibly damaging	0.88
R6735:Enpp3	UTSW	10	24807453	missense	probably damaging	1.00
R6833:Enpp3	UTSW	10	24809870	missense	probably damaging	1.00
R6999:Enpp3	UTSW	10	24808166	missense	probably damaging	1.00
R7022:Enpp3	UTSW	10	24826195	missense	probably damaging	0.99
R7173:Enpp3	UTSW	10	24774047	missense	probably damaging	1.00
R7224:Enpp3	UTSW	10	24776884	missense	possibly damaging	0.63
R7227:Enpp3	UTSW	10	24817844	missense	unknown
R7487:Enpp3	UTSW	10	24805923	missense	probably benign	0.02
R7529:Enpp3	UTSW	10	24798174	missense	probably damaging	0.97
R7583:Enpp3	UTSW	10	24836092	start codon destroyed	probably null	0.83
R7692:Enpp3	UTSW	10	24784841	nonsense	probably null
R7962:Enpp3	UTSW	10	24784854	missense	probably damaging	1.00
R7965:Enpp3	UTSW	10	24778819	missense	possibly damaging	0.90
R8153:Enpp3	UTSW	10	24809879	missense	probably damaging	1.00
R8262:Enpp3	UTSW	10	24777926	missense	probably damaging	1.00
R8305:Enpp3	UTSW	10	24824929	critical splice acceptor site	probably null
R8393:Enpp3	UTSW	10	24826241	missense	probably damaging	1.00
R8776:Enpp3	UTSW	10	24774835	missense	probably damaging	1.00
R8776-TAIL:Enpp3	UTSW	10	24774835	missense	probably damaging	1.00
R8962:Enpp3	UTSW	10	24820615	missense	probably benign	0.12
R9047:Enpp3	UTSW	10	24798274	missense	possibly damaging	0.83
R9093:Enpp3	UTSW	10	24795804	missense	probably benign	0.00
R9117:Enpp3	UTSW	10	24826180	missense	possibly damaging	0.67
R9194:Enpp3	UTSW	10	24799194	missense	possibly damaging	0.90
R9224:Enpp3	UTSW	10	24774818	missense	probably benign	0.00
R9244:Enpp3	UTSW	10	24778791	missense	probably damaging	1.00
R9387:Enpp3	UTSW	10	24836092	start codon destroyed	probably null	0.83
R9644:Enpp3	UTSW	10	24809903	missense	probably damaging	0.98
R9658:Enpp3	UTSW	10	24773904	makesense	probably null
X0026:Enpp3	UTSW	10	24826242	missense	probably damaging	1.00
Z1176:Enpp3	UTSW	10	24787793	missense	probably benign

Posted On

2015-04-16