Mutagenetix > Incidental Mutation

Incidental Mutation 'R2410:Enpp3'

249953

Institutional Source

Beutler Lab

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 #

R2410 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24649712-24712093 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24650716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 807 (V807I)

Ref Sequence

ENSEMBL: ENSMUSP00000020169 (fasta)

Gene Model

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

AlphaFold

Q6DYE8

Predicted Effect

probably benign
Transcript: ENSMUST00000020169
AA Change: V807I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000020169
Gene: ENSMUSG00000019989
AA Change: V807I

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

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Adgrf5	C	A	17: 43,766,157 (GRCm39)	N1326K	probably benign	Het
Ciita	A	G	16: 10,328,568 (GRCm39)	E284G	probably damaging	Het
Ctbp2	T	C	7: 132,616,083 (GRCm39)	Y284C	probably benign	Het
Dnah11	T	C	12: 117,991,262 (GRCm39)	D2368G	probably damaging	Het
Erich3	A	G	3: 154,439,240 (GRCm39)	D491G	probably damaging	Het
Ero1a	C	T	14: 45,542,723 (GRCm39)	V101I	possibly damaging	Het
Fbxl7	A	G	15: 26,895,111 (GRCm39)	Y9H	possibly damaging	Het
Fzd2	A	G	11: 102,496,453 (GRCm39)	Y299C	possibly damaging	Het
Lamc1	G	A	1: 153,123,141 (GRCm39)	T683M	possibly damaging	Het
Lrrc39	C	T	3: 116,374,899 (GRCm39)	P327S	probably benign	Het
Marf1	A	T	16: 13,933,691 (GRCm39)	F1566I	probably benign	Het
Me2	A	T	18: 73,924,183 (GRCm39)	M343K	probably damaging	Het
Mlxip	T	A	5: 123,581,132 (GRCm39)	W260R	probably damaging	Het
Mrps17	T	C	5: 129,795,047 (GRCm39)	V64A	probably damaging	Het
Or4c118	A	T	2: 88,974,899 (GRCm39)	I156N	possibly damaging	Het
Phldb3	C	T	7: 24,323,719 (GRCm39)	S450L	probably benign	Het
Pi4k2a	A	G	19: 42,093,316 (GRCm39)	E219G	possibly damaging	Het
Polr1a	T	C	6: 71,951,866 (GRCm39)	S1478P	probably benign	Het
Rab14	T	C	2: 35,076,762 (GRCm39)		probably null	Het
Rnf43	T	C	11: 87,623,085 (GRCm39)	Y729H	possibly damaging	Het
Sgms1	G	A	19: 32,137,072 (GRCm39)	R165*	probably null	Het
Sorbs1	T	A	19: 40,361,959 (GRCm39)	I142F	probably damaging	Het
Tmem255b	A	G	8: 13,491,278 (GRCm39)	I66V	probably benign	Het
Vmn2r9	T	C	5: 108,996,123 (GRCm39)	D175G	probably damaging	Het
Zfp954	A	T	7: 7,120,808 (GRCm39)	I74N	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
IGL01814:Enpp3	APN	10	24,667,923 (GRCm39)	missense	possibly damaging	0.68
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
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

Predicted Primers

PCR Primer
(F):5'- TTTACATATGCAGATGCGCG -3'
(R):5'- TGCCATTTCCTTAATGCCAAG -3'

Sequencing Primer
(F):5'- GCAGATGCGCGTTTAATATTAATTC -3'
(R):5'- ATGCCAAGCTATAAAACAAAAAGAC -3'

Posted On

2014-11-12