Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01814:Enpp3'

154350

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: 0.196) question?

Stock #

IGL01814

Quality Score

Status

Chromosome

Chromosomal Location

24649712-24712093 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24667923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 510 (P510S)

Ref Sequence

ENSEMBL: ENSMUSP00000020169 (fasta)

Gene Model

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

AlphaFold

Q6DYE8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020169
AA Change: P510S

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000020169
Gene: ENSMUSG00000019989
AA Change: P510S

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

unknown
Transcript: ENSMUST00000218343
AA Change: P87S

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
Afg3l2	T	A	18: 67,538,544 (GRCm39)	N738I	probably benign	Het
B3galnt2	A	G	13: 14,161,938 (GRCm39)	S1G	probably damaging	Het
Btbd9	T	C	17: 30,518,509 (GRCm39)	I484V	probably benign	Het
Chd6	T	C	2: 160,901,849 (GRCm39)	K8R	probably benign	Het
Csmd1	A	C	8: 16,551,389 (GRCm39)	L279R	probably damaging	Het
Dmxl1	G	T	18: 49,997,935 (GRCm39)	V708F	probably damaging	Het
Dnajc24	C	T	2: 105,811,429 (GRCm39)	G49R	probably benign	Het
Dnhd1	T	C	7: 105,301,237 (GRCm39)	M198T	probably benign	Het
Dtx3l	T	A	16: 35,751,872 (GRCm39)	D683V	probably benign	Het
Duox1	A	G	2: 122,176,753 (GRCm39)	T1425A	probably damaging	Het
Iars2	G	T	1: 185,034,972 (GRCm39)	Y590*	probably null	Het
Itgb7	T	C	15: 102,131,852 (GRCm39)	R244G	possibly damaging	Het
Itpr2	T	A	6: 146,134,044 (GRCm39)	R1820S	probably benign	Het
Matn3	T	C	12: 9,002,091 (GRCm39)	V101A	probably damaging	Het
Neurod1	C	T	2: 79,285,003 (GRCm39)	V127M	probably damaging	Het
Or56a5	T	C	7: 104,792,811 (GRCm39)	I236V	possibly damaging	Het
Or9i1b	T	A	19: 13,896,892 (GRCm39)	C169*	probably null	Het
Pde10a	A	G	17: 9,147,939 (GRCm39)	M1V	probably null	Het
Pdk4	A	G	6: 5,491,828 (GRCm39)		probably null	Het
Ptchd4	A	T	17: 42,814,177 (GRCm39)	I693F	possibly damaging	Het
Scml4	C	T	10: 42,811,041 (GRCm39)	R194C	probably damaging	Het
Slc24a4	T	C	12: 102,220,877 (GRCm39)	V436A	probably benign	Het
Slc9a3	C	A	13: 74,314,091 (GRCm39)	R800S	probably damaging	Het
Smchd1	C	A	17: 71,685,182 (GRCm39)	M1415I	probably benign	Het
Syndig1	T	A	2: 149,741,690 (GRCm39)	I92N	probably damaging	Het
Tchhl1	T	C	3: 93,377,656 (GRCm39)	V120A	possibly damaging	Het
Thumpd3	C	T	6: 113,040,112 (GRCm39)	T332I	possibly damaging	Het
Tmem101	G	A	11: 102,044,284 (GRCm39)	T201M	possibly damaging	Het
Trip11	T	C	12: 101,850,747 (GRCm39)	T1106A	probably damaging	Het
Ttc41	C	T	10: 86,566,890 (GRCm39)	R519C	probably damaging	Het
Xirp1	T	A	9: 119,846,985 (GRCm39)	M633L	probably damaging	Het
Zfp938	A	T	10: 82,062,052 (GRCm39)	D189E	probably benign	Het

Other mutations in Enpp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Enpp3	APN	10	24,663,670 (GRCm39)	missense	probably benign	0.00
IGL00778:Enpp3	APN	10	24,674,160 (GRCm39)	missense	probably damaging	1.00
IGL01147:Enpp3	APN	10	24,650,805 (GRCm39)	missense	probably damaging	1.00
IGL01343:Enpp3	APN	10	24,681,820 (GRCm39)	nonsense	probably null
IGL01642:Enpp3	APN	10	24,674,167 (GRCm39)	missense	probably damaging	1.00
IGL02083:Enpp3	APN	10	24,652,692 (GRCm39)	missense	probably damaging	1.00
IGL02152:Enpp3	APN	10	24,649,900 (GRCm39)	missense	probably damaging	1.00
IGL02186:Enpp3	APN	10	24,667,881 (GRCm39)	splice site	probably benign
IGL02517:Enpp3	APN	10	24,685,746 (GRCm39)	splice site	probably benign
IGL02956:Enpp3	APN	10	24,650,841 (GRCm39)	splice site	probably benign
R0017:Enpp3	UTSW	10	24,675,051 (GRCm39)	splice site	probably null
R0042:Enpp3	UTSW	10	24,650,722 (GRCm39)	missense	probably damaging	1.00
R0110:Enpp3	UTSW	10	24,652,679 (GRCm39)	missense	probably damaging	1.00
R0218:Enpp3	UTSW	10	24,652,767 (GRCm39)	missense	possibly damaging	0.80
R0403:Enpp3	UTSW	10	24,680,334 (GRCm39)	missense	probably damaging	1.00
R0433:Enpp3	UTSW	10	24,696,495 (GRCm39)	missense	probably benign	0.00
R0450:Enpp3	UTSW	10	24,652,679 (GRCm39)	missense	probably damaging	1.00
R0510:Enpp3	UTSW	10	24,652,679 (GRCm39)	missense	probably damaging	1.00
R0826:Enpp3	UTSW	10	24,671,614 (GRCm39)	missense	probably damaging	1.00
R1245:Enpp3	UTSW	10	24,660,851 (GRCm39)	splice site	probably benign
R1261:Enpp3	UTSW	10	24,650,832 (GRCm39)	missense	probably damaging	0.97
R1633:Enpp3	UTSW	10	24,671,680 (GRCm39)	missense	probably damaging	1.00
R1903:Enpp3	UTSW	10	24,654,687 (GRCm39)	missense	probably damaging	1.00
R1913:Enpp3	UTSW	10	24,652,669 (GRCm39)	nonsense	probably null
R1966:Enpp3	UTSW	10	24,683,389 (GRCm39)	missense	probably damaging	0.99
R2157:Enpp3	UTSW	10	24,652,776 (GRCm39)	missense	probably damaging	1.00
R2179:Enpp3	UTSW	10	24,681,793 (GRCm39)	missense	probably benign	0.00
R2380:Enpp3	UTSW	10	24,652,770 (GRCm39)	missense	probably benign
R2410:Enpp3	UTSW	10	24,650,716 (GRCm39)	missense	probably benign	0.00
R3794:Enpp3	UTSW	10	24,707,630 (GRCm39)	splice site	probably null
R3896:Enpp3	UTSW	10	24,653,847 (GRCm39)	missense	possibly damaging	0.79
R4334:Enpp3	UTSW	10	24,669,487 (GRCm39)	missense	probably damaging	1.00
R4569:Enpp3	UTSW	10	24,652,780 (GRCm39)	missense	probably damaging	1.00
R4766:Enpp3	UTSW	10	24,649,825 (GRCm39)	missense	probably damaging	1.00
R4951:Enpp3	UTSW	10	24,674,175 (GRCm39)	missense	probably damaging	1.00
R4998:Enpp3	UTSW	10	24,683,436 (GRCm39)	missense	probably benign	0.01
R5045:Enpp3	UTSW	10	24,652,665 (GRCm39)	missense	probably damaging	1.00
R5276:Enpp3	UTSW	10	24,685,814 (GRCm39)	missense	probably damaging	1.00
R5331:Enpp3	UTSW	10	24,684,058 (GRCm39)	missense	probably damaging	1.00
R5569:Enpp3	UTSW	10	24,654,719 (GRCm39)	missense	probably damaging	0.98
R5975:Enpp3	UTSW	10	24,650,740 (GRCm39)	missense	probably benign	0.37
R6117:Enpp3	UTSW	10	24,663,750 (GRCm39)	missense	probably damaging	1.00
R6419:Enpp3	UTSW	10	24,684,089 (GRCm39)	missense	probably damaging	1.00
R6677:Enpp3	UTSW	10	24,653,855 (GRCm39)	missense	possibly damaging	0.88
R6735:Enpp3	UTSW	10	24,683,351 (GRCm39)	missense	probably damaging	1.00
R6833:Enpp3	UTSW	10	24,685,768 (GRCm39)	missense	probably damaging	1.00
R6999:Enpp3	UTSW	10	24,684,064 (GRCm39)	missense	probably damaging	1.00
R7022:Enpp3	UTSW	10	24,702,093 (GRCm39)	missense	probably damaging	0.99
R7173:Enpp3	UTSW	10	24,649,945 (GRCm39)	missense	probably damaging	1.00
R7224:Enpp3	UTSW	10	24,652,782 (GRCm39)	missense	possibly damaging	0.63
R7227:Enpp3	UTSW	10	24,693,742 (GRCm39)	missense	unknown
R7487:Enpp3	UTSW	10	24,681,821 (GRCm39)	missense	probably benign	0.02
R7529:Enpp3	UTSW	10	24,674,072 (GRCm39)	missense	probably damaging	0.97
R7583:Enpp3	UTSW	10	24,711,990 (GRCm39)	start codon destroyed	probably null	0.83
R7692:Enpp3	UTSW	10	24,660,739 (GRCm39)	nonsense	probably null
R7962:Enpp3	UTSW	10	24,660,752 (GRCm39)	missense	probably damaging	1.00
R7965:Enpp3	UTSW	10	24,654,717 (GRCm39)	missense	possibly damaging	0.90
R8153:Enpp3	UTSW	10	24,685,777 (GRCm39)	missense	probably damaging	1.00
R8262:Enpp3	UTSW	10	24,653,824 (GRCm39)	missense	probably damaging	1.00
R8305:Enpp3	UTSW	10	24,700,827 (GRCm39)	critical splice acceptor site	probably null
R8393:Enpp3	UTSW	10	24,702,139 (GRCm39)	missense	probably damaging	1.00
R8776:Enpp3	UTSW	10	24,650,733 (GRCm39)	missense	probably damaging	1.00
R8776-TAIL:Enpp3	UTSW	10	24,650,733 (GRCm39)	missense	probably damaging	1.00
R8962:Enpp3	UTSW	10	24,696,513 (GRCm39)	missense	probably benign	0.12
R9047:Enpp3	UTSW	10	24,674,172 (GRCm39)	missense	possibly damaging	0.83
R9093:Enpp3	UTSW	10	24,671,702 (GRCm39)	missense	probably benign	0.00
R9117:Enpp3	UTSW	10	24,702,078 (GRCm39)	missense	possibly damaging	0.67
R9194:Enpp3	UTSW	10	24,675,092 (GRCm39)	missense	possibly damaging	0.90
R9224:Enpp3	UTSW	10	24,650,716 (GRCm39)	missense	probably benign	0.00
R9244:Enpp3	UTSW	10	24,654,689 (GRCm39)	missense	probably damaging	1.00
R9387:Enpp3	UTSW	10	24,711,990 (GRCm39)	start codon destroyed	probably null	0.83
R9644:Enpp3	UTSW	10	24,685,801 (GRCm39)	missense	probably damaging	0.98
R9658:Enpp3	UTSW	10	24,649,802 (GRCm39)	makesense	probably null
X0026:Enpp3	UTSW	10	24,702,140 (GRCm39)	missense	probably damaging	1.00
Z1176:Enpp3	UTSW	10	24,663,691 (GRCm39)	missense	probably benign

Posted On

2014-02-04