Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02083:Enpp3'

283437

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: 0.194) question?

Stock #

IGL02083

Quality Score

Status

Chromosome

Chromosomal Location

24772406-24842823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24776794 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 755 (D755V)

Ref Sequence

ENSEMBL: ENSMUSP00000020169 (fasta)

Gene Model

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

AlphaFold

Q6DYE8

Predicted Effect

probably damaging
Transcript: ENSMUST00000020169
AA Change: D755V

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

SMART Domains

Protein: ENSMUSP00000020169
Gene: ENSMUSG00000019989
AA Change: D755V

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	A	C	11: 69,889,510 (GRCm38)	L36V	possibly damaging	Het
Atp13a3	T	C	16: 30,347,706 (GRCm38)	T540A	possibly damaging	Het
Bend5	A	C	4: 111,459,767 (GRCm38)	I376L	probably benign	Het
Ccdc138	T	C	10: 58,544,914 (GRCm38)		probably benign	Het
Cdh10	T	A	15: 18,986,889 (GRCm38)	I402N	possibly damaging	Het
Cfap44	T	C	16: 44,437,162 (GRCm38)	V1020A	probably damaging	Het
Chd2	A	T	7: 73,481,068 (GRCm38)	S749T	possibly damaging	Het
Doxl2	G	A	6: 48,976,260 (GRCm38)	G373D	probably damaging	Het
Fmo6	T	A	1: 162,920,464 (GRCm38)	K344*	probably null	Het
Gabbr1	A	G	17: 37,070,065 (GRCm38)	T767A	possibly damaging	Het
Gjd3	A	G	11: 98,982,761 (GRCm38)	S86P	probably damaging	Het
Grin1	A	G	2: 25,298,501 (GRCm38)	V432A	possibly damaging	Het
Igf2r	A	T	17: 12,693,192 (GRCm38)	C1849*	probably null	Het
Jcad	G	T	18: 4,680,266 (GRCm38)		probably benign	Het
Mrgpra4	A	T	7: 47,981,060 (GRCm38)	C264*	probably null	Het
Napepld	T	C	5: 21,676,067 (GRCm38)	Y110C	probably damaging	Het
Nat6	G	T	9: 107,583,599 (GRCm38)	R231L	probably benign	Het
Ncapd3	A	G	9: 27,051,821 (GRCm38)	E474G	probably damaging	Het
Pkhd1	T	A	1: 20,201,227 (GRCm38)	D3034V	probably damaging	Het
Plxnc1	T	C	10: 94,922,725 (GRCm38)	T370A	possibly damaging	Het
Ptger4	C	T	15: 5,243,174 (GRCm38)	R13H	probably benign	Het
Scg2	T	A	1: 79,436,224 (GRCm38)	T261S	probably benign	Het
Sfswap	T	C	5: 129,539,791 (GRCm38)	V433A	probably benign	Het
Sipa1l3	A	G	7: 29,387,261 (GRCm38)	Y635H	probably damaging	Het
Sp5	C	A	2: 70,476,414 (GRCm38)	P148T	possibly damaging	Het
Tlr5	A	G	1: 182,973,884 (GRCm38)	N251S	possibly damaging	Het
Tmem87a	A	T	2: 120,397,380 (GRCm38)	N95K	probably damaging	Het
Unc45b	C	T	11: 82,922,919 (GRCm38)	T384M	probably damaging	Het
Unc5c	T	C	3: 141,714,647 (GRCm38)	L117P	probably damaging	Het
Vcan	T	C	13: 89,725,565 (GRCm38)	N57D	probably damaging	Het
Zcchc8	G	T	5: 123,700,918 (GRCm38)	T519K	probably damaging	Het
Zfp729b	G	A	13: 67,595,230 (GRCm38)	T72I	probably benign	Het

Other mutations in Enpp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Enpp3	APN	10	24,787,772 (GRCm38)	missense	probably benign	0.00
IGL00778:Enpp3	APN	10	24,798,262 (GRCm38)	missense	probably damaging	1.00
IGL01147:Enpp3	APN	10	24,774,907 (GRCm38)	missense	probably damaging	1.00
IGL01343:Enpp3	APN	10	24,805,922 (GRCm38)	nonsense	probably null
IGL01642:Enpp3	APN	10	24,798,269 (GRCm38)	missense	probably damaging	1.00
IGL01814:Enpp3	APN	10	24,792,025 (GRCm38)	missense	possibly damaging	0.68
IGL02152:Enpp3	APN	10	24,774,002 (GRCm38)	missense	probably damaging	1.00
IGL02186:Enpp3	APN	10	24,791,983 (GRCm38)	splice site	probably benign
IGL02517:Enpp3	APN	10	24,809,848 (GRCm38)	splice site	probably benign
IGL02956:Enpp3	APN	10	24,774,943 (GRCm38)	splice site	probably benign
R0017:Enpp3	UTSW	10	24,799,153 (GRCm38)	splice site	probably null
R0042:Enpp3	UTSW	10	24,774,824 (GRCm38)	missense	probably damaging	1.00
R0110:Enpp3	UTSW	10	24,776,781 (GRCm38)	missense	probably damaging	1.00
R0218:Enpp3	UTSW	10	24,776,869 (GRCm38)	missense	possibly damaging	0.80
R0403:Enpp3	UTSW	10	24,804,436 (GRCm38)	missense	probably damaging	1.00
R0433:Enpp3	UTSW	10	24,820,597 (GRCm38)	missense	probably benign	0.00
R0450:Enpp3	UTSW	10	24,776,781 (GRCm38)	missense	probably damaging	1.00
R0510:Enpp3	UTSW	10	24,776,781 (GRCm38)	missense	probably damaging	1.00
R0826:Enpp3	UTSW	10	24,795,716 (GRCm38)	missense	probably damaging	1.00
R1245:Enpp3	UTSW	10	24,784,953 (GRCm38)	splice site	probably benign
R1261:Enpp3	UTSW	10	24,774,934 (GRCm38)	missense	probably damaging	0.97
R1633:Enpp3	UTSW	10	24,795,782 (GRCm38)	missense	probably damaging	1.00
R1903:Enpp3	UTSW	10	24,778,789 (GRCm38)	missense	probably damaging	1.00
R1913:Enpp3	UTSW	10	24,776,771 (GRCm38)	nonsense	probably null
R1966:Enpp3	UTSW	10	24,807,491 (GRCm38)	missense	probably damaging	0.99
R2157:Enpp3	UTSW	10	24,776,878 (GRCm38)	missense	probably damaging	1.00
R2179:Enpp3	UTSW	10	24,805,895 (GRCm38)	missense	probably benign	0.00
R2380:Enpp3	UTSW	10	24,776,872 (GRCm38)	missense	probably benign
R2410:Enpp3	UTSW	10	24,774,818 (GRCm38)	missense	probably benign	0.00
R3794:Enpp3	UTSW	10	24,831,732 (GRCm38)	splice site	probably null
R3896:Enpp3	UTSW	10	24,777,949 (GRCm38)	missense	possibly damaging	0.79
R4334:Enpp3	UTSW	10	24,793,589 (GRCm38)	missense	probably damaging	1.00
R4569:Enpp3	UTSW	10	24,776,882 (GRCm38)	missense	probably damaging	1.00
R4766:Enpp3	UTSW	10	24,773,927 (GRCm38)	missense	probably damaging	1.00
R4951:Enpp3	UTSW	10	24,798,277 (GRCm38)	missense	probably damaging	1.00
R4998:Enpp3	UTSW	10	24,807,538 (GRCm38)	missense	probably benign	0.01
R5045:Enpp3	UTSW	10	24,776,767 (GRCm38)	missense	probably damaging	1.00
R5276:Enpp3	UTSW	10	24,809,916 (GRCm38)	missense	probably damaging	1.00
R5331:Enpp3	UTSW	10	24,808,160 (GRCm38)	missense	probably damaging	1.00
R5569:Enpp3	UTSW	10	24,778,821 (GRCm38)	missense	probably damaging	0.98
R5975:Enpp3	UTSW	10	24,774,842 (GRCm38)	missense	probably benign	0.37
R6117:Enpp3	UTSW	10	24,787,852 (GRCm38)	missense	probably damaging	1.00
R6419:Enpp3	UTSW	10	24,808,191 (GRCm38)	missense	probably damaging	1.00
R6677:Enpp3	UTSW	10	24,777,957 (GRCm38)	missense	possibly damaging	0.88
R6735:Enpp3	UTSW	10	24,807,453 (GRCm38)	missense	probably damaging	1.00
R6833:Enpp3	UTSW	10	24,809,870 (GRCm38)	missense	probably damaging	1.00
R6999:Enpp3	UTSW	10	24,808,166 (GRCm38)	missense	probably damaging	1.00
R7022:Enpp3	UTSW	10	24,826,195 (GRCm38)	missense	probably damaging	0.99
R7173:Enpp3	UTSW	10	24,774,047 (GRCm38)	missense	probably damaging	1.00
R7224:Enpp3	UTSW	10	24,776,884 (GRCm38)	missense	possibly damaging	0.63
R7227:Enpp3	UTSW	10	24,817,844 (GRCm38)	missense	unknown
R7487:Enpp3	UTSW	10	24,805,923 (GRCm38)	missense	probably benign	0.02
R7529:Enpp3	UTSW	10	24,798,174 (GRCm38)	missense	probably damaging	0.97
R7583:Enpp3	UTSW	10	24,836,092 (GRCm38)	start codon destroyed	probably null	0.83
R7692:Enpp3	UTSW	10	24,784,841 (GRCm38)	nonsense	probably null
R7962:Enpp3	UTSW	10	24,784,854 (GRCm38)	missense	probably damaging	1.00
R7965:Enpp3	UTSW	10	24,778,819 (GRCm38)	missense	possibly damaging	0.90
R8153:Enpp3	UTSW	10	24,809,879 (GRCm38)	missense	probably damaging	1.00
R8262:Enpp3	UTSW	10	24,777,926 (GRCm38)	missense	probably damaging	1.00
R8305:Enpp3	UTSW	10	24,824,929 (GRCm38)	critical splice acceptor site	probably null
R8393:Enpp3	UTSW	10	24,826,241 (GRCm38)	missense	probably damaging	1.00
R8776:Enpp3	UTSW	10	24,774,835 (GRCm38)	missense	probably damaging	1.00
R8776-TAIL:Enpp3	UTSW	10	24,774,835 (GRCm38)	missense	probably damaging	1.00
R8962:Enpp3	UTSW	10	24,820,615 (GRCm38)	missense	probably benign	0.12
R9047:Enpp3	UTSW	10	24,798,274 (GRCm38)	missense	possibly damaging	0.83
R9093:Enpp3	UTSW	10	24,795,804 (GRCm38)	missense	probably benign	0.00
R9117:Enpp3	UTSW	10	24,826,180 (GRCm38)	missense	possibly damaging	0.67
R9194:Enpp3	UTSW	10	24,799,194 (GRCm38)	missense	possibly damaging	0.90
R9224:Enpp3	UTSW	10	24,774,818 (GRCm38)	missense	probably benign	0.00
R9244:Enpp3	UTSW	10	24,778,791 (GRCm38)	missense	probably damaging	1.00
R9387:Enpp3	UTSW	10	24,836,092 (GRCm38)	start codon destroyed	probably null	0.83
R9644:Enpp3	UTSW	10	24,809,903 (GRCm38)	missense	probably damaging	0.98
R9658:Enpp3	UTSW	10	24,773,904 (GRCm38)	makesense	probably null
X0026:Enpp3	UTSW	10	24,826,242 (GRCm38)	missense	probably damaging	1.00
Z1176:Enpp3	UTSW	10	24,787,793 (GRCm38)	missense	probably benign

Posted On

2015-04-16