Mutagenetix > Incidental Mutation

Incidental Mutation 'R3794:Enpp3'

272692

Institutional Source

Beutler Lab

Gene Symbol

Enpp3

Ensembl Gene

ENSMUSG00000019989

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 3

Synonyms

CD203c

MMRRC Submission

040756-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

R3794 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24649712-24712093 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 24707630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151646 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020169] [ENSMUST00000217903] [ENSMUST00000218044] [ENSMUST00000219342] [ENSMUST00000219968] [ENSMUST00000220209]

AlphaFold

Q6DYE8

Predicted Effect

probably null
Transcript: ENSMUST00000020169

SMART Domains

Protein: ENSMUSP00000020169
Gene: ENSMUSG00000019989

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

silent
Transcript: ENSMUST00000217903

Predicted Effect

probably null
Transcript: ENSMUST00000218044

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218619

Predicted Effect

probably benign
Transcript: ENSMUST00000219342

Predicted Effect

probably null
Transcript: ENSMUST00000219968

Predicted Effect

probably benign
Transcript: ENSMUST00000220209

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (37/38)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	C	T	15: 98,496,824 (GRCm39)	V482I	probably damaging	Het
Adgrv1	T	A	13: 81,431,486 (GRCm39)	M1L	probably damaging	Het
Ceacam13	A	G	7: 17,747,340 (GRCm39)	*264W	probably null	Het
Dennd5b	A	T	6: 149,002,715 (GRCm39)	D31E	possibly damaging	Het
Dip2c	T	C	13: 9,654,597 (GRCm39)	V706A	probably damaging	Het
Exoc4	T	G	6: 33,452,932 (GRCm39)	V474G	probably benign	Het
F2rl1	A	G	13: 95,649,719 (GRCm39)	Y388H	unknown	Het
Fasl	T	C	1: 161,609,306 (GRCm39)	R17G	probably benign	Het
Htr1a	G	A	13: 105,580,852 (GRCm39)	V31M	possibly damaging	Het
Inpp4b	T	C	8: 82,759,845 (GRCm39)	V445A	probably damaging	Het
Itih3	T	C	14: 30,640,351 (GRCm39)	Y319C	probably damaging	Het
Katnip	A	G	7: 125,419,261 (GRCm39)	N476S	probably benign	Het
Kmt2d	T	C	15: 98,735,240 (GRCm39)		probably benign	Het
Mobp	A	T	9: 119,997,033 (GRCm39)	K55*	probably null	Het
Ndufaf5	T	A	2: 140,044,843 (GRCm39)	M279K	possibly damaging	Het
Nlrc3	T	C	16: 3,765,739 (GRCm39)	I1057V	probably benign	Het
Or10al7	A	G	17: 38,365,786 (GRCm39)	Y224H	probably damaging	Het
Or4c112	G	T	2: 88,853,770 (GRCm39)	H192Q	probably benign	Het
Piezo2	C	T	18: 63,214,864 (GRCm39)	R1257Q	probably damaging	Het
Pigv	A	G	4: 133,392,502 (GRCm39)	S223P	possibly damaging	Het
Pkdcc	A	G	17: 83,531,382 (GRCm39)	T464A	probably damaging	Het
Polr2k	A	G	15: 36,175,193 (GRCm39)	I18V	probably damaging	Het
Pon3	A	G	6: 5,221,578 (GRCm39)	Y351H	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Scaf8	A	G	17: 3,240,524 (GRCm39)	E632G	probably damaging	Het
Smurf1	A	G	5: 144,837,985 (GRCm39)		probably null	Het
Tex16	T	G	X: 111,150,375 (GRCm39)	M1R	probably null	Het
Tln1	G	T	4: 43,536,295 (GRCm39)	A1999D	probably damaging	Het
Trgv5	A	T	13: 19,376,694 (GRCm39)	H47L	probably benign	Het
Ttn	C	T	2: 76,772,781 (GRCm39)	V2405I	possibly damaging	Het
Vps13d	G	A	4: 144,812,007 (GRCm39)		probably benign	Het
Xrcc1	A	G	7: 24,269,985 (GRCm39)	T469A	probably benign	Het
Zfp287	G	T	11: 62,605,070 (GRCm39)	H612Q	probably damaging	Het
Zfp352	C	T	4: 90,113,386 (GRCm39)	H509Y	probably damaging	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
R2410:Enpp3	UTSW	10	24,650,716 (GRCm39)	missense	probably benign	0.00
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'- CCTTTCTGTGTGTCAGGGTAAAAG -3'
(R):5'- TTGCTGCTGCGTCTGATACC -3'

Sequencing Primer
(F):5'- TGTCAGGGTAAAAGAGGAAAGTCCAC -3'
(R):5'- AATTAGCATGCTGCCTGGAC -3'

Posted On

2015-03-25