Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01343:Enpp3'

74922

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: 0.236) question?

Stock #

IGL01343

Quality Score

Status

Chromosome

Chromosomal Location

24772406-24842823 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 24805922 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 295 (Y295*)

Ref Sequence

ENSEMBL: ENSMUSP00000020169 (fasta)

Gene Model

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

AlphaFold

Q6DYE8

Predicted Effect

probably null
Transcript: ENSMUST00000020169
AA Change: Y295*

SMART Domains

Protein: ENSMUSP00000020169
Gene: ENSMUSG00000019989
AA Change: Y295*

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
9530053A07Rik	A	G	7: 28,150,702	Q1191R	probably benign	Het
Abcd2	A	T	15: 91,149,213		probably benign	Het
Adgrf1	T	A	17: 43,313,195	F835L	probably null	Het
Akp3	G	T	1: 87,127,136		probably benign	Het
BC106179	G	T	16: 23,224,287		probably benign	Het
Bysl	C	A	17: 47,601,889	M325I	probably benign	Het
C330027C09Rik	A	G	16: 49,013,188	I551V	probably damaging	Het
Crnn	A	G	3: 93,148,326	R140G	probably benign	Het
Cts8	T	C	13: 61,249,196		probably benign	Het
Cxcr4	T	C	1: 128,589,555	Y121C	probably damaging	Het
Ddr2	T	C	1: 169,984,581	T691A	probably benign	Het
Dhx30	A	T	9: 110,086,245	F782I	probably benign	Het
Efcab5	C	T	11: 77,129,930	G655D	probably damaging	Het
Eif2ak4	G	A	2: 118,422,089	V381I	probably benign	Het
Fbxo28	T	C	1: 182,317,012	E329G	probably damaging	Het
Fmnl2	T	A	2: 53,123,545	V972D	probably damaging	Het
Fmr1	A	G	X: 68,688,295	D22G	probably damaging	Het
Fsip2	A	G	2: 82,999,819	T6886A	possibly damaging	Het
Gadl1	A	G	9: 116,074,112	*503W	probably null	Het
Gpc6	A	T	14: 117,186,812	K104I	possibly damaging	Het
Hecw2	T	A	1: 53,826,976	T1509S	probably damaging	Het
Lonp1	A	G	17: 56,615,586	L680P	possibly damaging	Het
Lrrc66	A	T	5: 73,608,463	N412K	probably damaging	Het
Marco	C	T	1: 120,494,740		probably null	Het
Mdga2	T	C	12: 66,723,109	T206A	probably damaging	Het
Mogat2	C	A	7: 99,232,568	A54S	possibly damaging	Het
Myh15	T	A	16: 49,155,677	D1369E	probably benign	Het
Nckap1	A	T	2: 80,519,842	S840T	possibly damaging	Het
Ncor1	C	T	11: 62,325,486		probably null	Het
Nfrkb	C	A	9: 31,388,954	L14I	probably damaging	Het
Notch1	C	A	2: 26,472,905	A950S	probably benign	Het
Notch3	T	C	17: 32,143,436	E1405G	probably benign	Het
Nsd2	C	A	5: 33,843,578	D146E	probably damaging	Het
Oc90	T	C	15: 65,889,591	T193A	probably benign	Het
Olfr1090	T	A	2: 86,754,499	K80*	probably null	Het
Olfr1356	A	T	10: 78,847,597	V106E	probably damaging	Het
Olfr150	C	A	9: 39,737,715	A300D	probably damaging	Het
Orc2	A	T	1: 58,492,855		probably null	Het
Pacsin2	T	C	15: 83,386,686	H254R	probably damaging	Het
Pif1	T	A	9: 65,589,562	M319K	probably damaging	Het
Prag1	G	A	8: 36,103,046	R261H	possibly damaging	Het
Ptprq	G	A	10: 107,638,839	T1335I	probably damaging	Het
Ryr3	A	G	2: 112,660,054	Y3812H	probably damaging	Het
Sgo2b	G	A	8: 63,927,315	Q828*	probably null	Het
Skint6	A	G	4: 113,283,626	V6A	probably benign	Het
Slc16a13	A	G	11: 70,220,514	I55T	probably damaging	Het
Slc22a3	A	T	17: 12,425,629	W490R	probably damaging	Het
Speer4b	G	T	5: 27,497,883	H208N	probably benign	Het
Tas2r124	T	C	6: 132,755,415	L229S	probably damaging	Het
Tlr4	T	C	4: 66,833,887		probably benign	Het
Tmed1	G	T	9: 21,510,073	T35K	probably damaging	Het
Tubgcp5	C	A	7: 55,796,031		probably benign	Het
Ugt2b34	A	G	5: 86,904,388	S250P	possibly damaging	Het
Zfp516	A	G	18: 82,993,096	T1085A	probably damaging	Het
Znfx1	T	C	2: 167,037,363	I1698V	probably benign	Het
Zswim8	G	T	14: 20,713,341	W385C	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
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
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

2013-10-07