Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02956:Enpp3'

365144

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: 0.160) question?

Stock #

IGL02956

Quality Score

Status

Chromosome

Chromosomal Location

24772406-24842823 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 24774943 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

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: ENSMUST00000218343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219861

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830406C13Rik	A	G	14: 12,287,326	N29S	probably benign	Het
5830473C10Rik	A	G	5: 90,579,638	I372V	possibly damaging	Het
Adamts13	C	T	2: 26,983,037	A339V	probably benign	Het
Adck2	T	C	6: 39,576,502	V349A	probably benign	Het
Akna	G	T	4: 63,386,279	T546K	probably benign	Het
Ankrd29	T	C	18: 12,260,936	K274E	probably damaging	Het
Apc2	A	T	10: 80,306,375	N376I	probably damaging	Het
Cadps	A	G	14: 12,418,047		probably benign	Het
Cbl	T	C	9: 44,169,034	T243A	probably damaging	Het
Cfap52	T	C	11: 67,954,075	E56G	probably benign	Het
Chd5	C	A	4: 152,379,956	P1561Q	probably benign	Het
Dscam	A	G	16: 96,801,272	S657P	probably damaging	Het
Ece1	T	C	4: 137,962,838	F732L	probably damaging	Het
Eno2	T	C	6: 124,763,119	D199G	probably damaging	Het
Fbxl15	G	T	19: 46,329,251	C124F	probably damaging	Het
Fermt3	T	C	19: 7,002,344	S474G	probably benign	Het
Fkbp6	T	C	5: 135,339,496	E252G	probably damaging	Het
Gm6625	A	T	8: 89,147,039		noncoding transcript	Het
Gnl1	T	C	17: 35,987,612	I416T	probably benign	Het
Gp1bb	C	A	16: 18,620,925	A140S	probably benign	Het
Grin2c	A	G	11: 115,257,959	V271A	possibly damaging	Het
Heatr1	T	A	13: 12,416,059	S1012T	possibly damaging	Het
Ighv5-6	T	A	12: 113,625,903		probably benign	Het
Itga10	A	G	3: 96,655,113	E737G	possibly damaging	Het
Lmod2	A	C	6: 24,603,632	N202T	probably damaging	Het
Lrp1	C	T	10: 127,544,559	V3908I	probably benign	Het
Lrrtm4	T	C	6: 80,021,650	V15A	probably benign	Het
Mup4	A	T	4: 59,959,263	D77E	probably benign	Het
Myh7b	A	T	2: 155,632,903	E1787V	probably damaging	Het
Myh7b	T	A	2: 155,625,954	M804K	possibly damaging	Het
Nup133	T	C	8: 123,949,083	S32G	probably benign	Het
Olfr145	A	G	9: 37,898,108	K235E	probably damaging	Het
Olfr159	T	A	4: 43,770,399	N204I	probably benign	Het
Olfr648	T	C	7: 104,180,127	I94V	probably damaging	Het
Olfr77	T	C	9: 19,921,052	V281A	possibly damaging	Het
Polr2m	T	C	9: 71,483,629	D97G	possibly damaging	Het
Pou2f3	A	G	9: 43,142,805		probably benign	Het
Rex1bd	C	A	8: 70,505,902	V72F	possibly damaging	Het
Rgp1	A	G	4: 43,581,505	T261A	possibly damaging	Het
Satb2	A	G	1: 56,948,175	F84L	probably damaging	Het
Sec14l1	G	A	11: 117,153,147	D494N	probably benign	Het
Spn	G	A	7: 127,137,260	T25M	probably damaging	Het
Trp73	G	A	4: 154,064,463		probably benign	Het
Tsc22d2	A	G	3: 58,417,546	T620A	unknown	Het
Zfp276	T	C	8: 123,254,744	L10P	probably damaging	Het
Zfp93	T	A	7: 24,274,975	N128K	probably benign	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
IGL02517:Enpp3	APN	10	24809848	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

2015-12-18