Mutagenetix > Incidental Mutation

Incidental Mutation 'R0218:Enpp3'

33669

Institutional Source

Beutler Lab

Gene Symbol

Enpp3

Ensembl Gene

ENSMUSG00000019989

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 3

Synonyms

CD203c

MMRRC Submission

038467-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.236) question?

Stock #

R0218 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24772406-24842823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24776869 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 730 (V730D)

Ref Sequence

ENSEMBL: ENSMUSP00000020169 (fasta)

Gene Model

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

AlphaFold

Q6DYE8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020169
AA Change: V730D

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020169
Gene: ENSMUSG00000019989
AA Change: V730D

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

Meta Mutation Damage Score

0.1454

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.7%

Validation Efficiency

98% (53/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	A	T	19: 11,116,437	Y10*	probably null	Het
Adgrv1	C	T	13: 81,106,898		probably null	Het
Ccdc110	A	G	8: 45,934,724		probably benign	Het
Cd200r1	T	A	16: 44,788,743		probably benign	Het
Cdkl1	A	T	12: 69,790,035	D40E	probably benign	Het
Cdx1	A	G	18: 61,020,364		probably benign	Het
Cenpp	T	A	13: 49,647,632	K103N	possibly damaging	Het
Cep162	A	G	9: 87,211,809	Y839H	possibly damaging	Het
Chac1	T	A	2: 119,353,460	L181*	probably null	Het
Ciapin1	G	T	8: 94,828,310	Q173K	probably damaging	Het
Dgcr2	A	G	16: 17,849,786	C270R	probably damaging	Het
Dlc1	A	G	8: 36,850,229	S431P	probably benign	Het
Efcab12	T	C	6: 115,814,650		probably benign	Het
Ehbp1	A	T	11: 22,231,992		probably benign	Het
Fam174b	A	G	7: 73,740,764	T88A	probably benign	Het
Fancl	A	G	11: 26,471,337	K364E	probably benign	Het
Fbp2	A	T	13: 62,854,048	F118I	probably damaging	Het
Galc	A	G	12: 98,222,647	Y402H	probably damaging	Het
Gga2	T	C	7: 121,998,900	N324D	possibly damaging	Het
Gm13103	A	G	4: 143,851,831	I220M	probably damaging	Het
Gm5346	T	G	8: 43,626,440	Q249P	probably benign	Het
Gpr1	T	A	1: 63,183,531	N182Y	probably benign	Het
Hc	G	T	2: 35,028,074	F732L	probably damaging	Het
Heca	T	C	10: 17,915,715	M198V	probably benign	Het
Herc6	C	A	6: 57,619,601	H509N	probably benign	Het
Irf2bpl	A	T	12: 86,882,624	M425K	probably benign	Het
Mael	C	T	1: 166,238,590	G26D	probably damaging	Het
Map1a	A	G	2: 121,305,425	T2241A	probably benign	Het
Mcc	C	G	18: 44,519,516		probably benign	Het
Mdga2	A	G	12: 66,655,120	S505P	probably damaging	Het
Mdm1	A	G	10: 118,156,878		probably benign	Het
Mex3b	A	T	7: 82,869,104	E209V	probably damaging	Het
Mrgprx3-ps	T	C	7: 47,309,406	E279G	possibly damaging	Het
Nfe2l1	A	T	11: 96,827,613	L32Q	probably damaging	Het
Npas1	C	T	7: 16,461,893	V285I	probably benign	Het
Olfr1499	T	C	19: 13,814,978	N204S	probably benign	Het
Olfr187	C	T	16: 59,036,093	V215I	probably benign	Het
Olfr513	T	A	7: 108,755,574	C239*	probably null	Het
Osr1	A	G	12: 9,579,639	T171A	probably benign	Het
Ppp3cb	A	T	14: 20,523,976	C265S	probably damaging	Het
Sephs1	A	G	2: 4,899,560	T250A	probably benign	Het
Simc1	T	C	13: 54,526,604	Y922H	probably damaging	Het
Slc25a39	A	G	11: 102,406,230	F56L	probably benign	Het
Smg8	A	G	11: 87,086,122	L211P	probably damaging	Het
Sncaip	A	G	18: 52,907,328	S805G	probably benign	Het
Sra1	T	C	18: 36,676,609		probably benign	Het
Tas2r104	T	G	6: 131,685,092	D218A	probably damaging	Het
Unc45b	A	G	11: 82,911,860		probably benign	Het
Unc79	A	G	12: 103,108,781		probably null	Het
Washc2	T	A	6: 116,248,046	L785*	probably null	Het
Zfp30	A	G	7: 29,793,638	E439G	probably damaging	Het
Zfp518a	A	G	19: 40,912,628	T334A	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGCTCAGACTCTACATTTCCTCCAGAA -3'
(R):5'- GGGCACAAACACTGTGGGTGTTA -3'

Sequencing Primer
(F):5'- GTGAGATTGCACAGTATCTAGTTC -3'
(R):5'- atcctcctgcctctgcc -3'

Posted On

2013-05-09