Mutagenetix > Incidental Mutation

Incidental Mutation 'R0110:Enpp3'

20394

Institutional Source

Beutler Lab

Gene Symbol

Enpp3

Ensembl Gene

ENSMUSG00000019989

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 3

Synonyms

CD203c

MMRRC Submission

038396-MU

Accession Numbers

Essential gene?

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

Stock #

R0110 (G1)

Quality Score

Status

Validated (trace)

Chromosome

Chromosomal Location

24649712-24712093 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24652679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 759 (D759E)

Ref Sequence

ENSEMBL: ENSMUSP00000020169 (fasta)

Gene Model

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

AlphaFold

Q6DYE8

Predicted Effect

probably damaging
Transcript: ENSMUST00000020169
AA Change: D759E

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

SMART Domains

Protein: ENSMUSP00000020169
Gene: ENSMUSG00000019989
AA Change: D759E

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

0.2896

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.0%

Validation Efficiency

98% (105/107)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 61,001,320 (GRCm39)		probably benign	Het
Abcg3	A	G	5: 105,125,482 (GRCm39)	I67T	probably damaging	Het
Adam10	T	A	9: 70,655,530 (GRCm39)	W333R	probably damaging	Het
Ahnak	C	T	19: 8,995,596 (GRCm39)	R5627*	probably null	Het
AI606181	A	C	19: 41,582,170 (GRCm39)	K113N	unknown	Het
Alms1	A	T	6: 85,597,351 (GRCm39)	R1195*	probably null	Het
Ankrd11	T	C	8: 123,618,914 (GRCm39)	D1646G	possibly damaging	Het
Ap2m1	T	A	16: 20,360,990 (GRCm39)	I334N	possibly damaging	Het
Arpc1b	T	A	5: 145,064,525 (GRCm39)	W361R	probably damaging	Het
Baiap2l1	T	C	5: 144,212,701 (GRCm39)	Y438C	probably damaging	Het
Brd8dc	A	T	18: 34,729,204 (GRCm39)	D42E	probably damaging	Het
Ccdc110	T	A	8: 46,388,194 (GRCm39)	N50K	probably benign	Het
Ccdc168	C	A	1: 44,098,384 (GRCm39)	V905F	probably benign	Het
Cdhr1	T	C	14: 36,802,633 (GRCm39)	Y610C	probably damaging	Het
Celsr3	G	A	9: 108,704,204 (GRCm39)	C229Y	possibly damaging	Het
Clca4b	A	T	3: 144,619,112 (GRCm39)	Y676N	probably damaging	Het
Cntln	C	T	4: 85,014,994 (GRCm39)	T1095I	probably damaging	Het
Cog2	T	C	8: 125,255,797 (GRCm39)		probably null	Het
Col11a1	A	T	3: 113,899,105 (GRCm39)		probably benign	Het
Cpe	T	A	8: 65,064,501 (GRCm39)	I233F	probably damaging	Het
Dcaf11	T	C	14: 55,806,537 (GRCm39)	V446A	probably damaging	Het
Defa34	A	G	8: 22,155,988 (GRCm39)		probably null	Het
Dnah12	A	G	14: 26,520,856 (GRCm39)	R1892G	probably damaging	Het
Dock4	A	G	12: 40,671,311 (GRCm39)		probably benign	Het
Dync1h1	C	A	12: 110,606,378 (GRCm39)	Q2483K	probably benign	Het
Epyc	A	G	10: 97,485,625 (GRCm39)	T22A	probably benign	Het
Fam227b	T	A	2: 125,942,841 (GRCm39)	S319C	probably damaging	Het
Fam83a	C	A	15: 57,873,322 (GRCm39)	Q384K	probably benign	Het
Fam83b	G	T	9: 76,400,108 (GRCm39)	L332I	possibly damaging	Het
Gal3st2c	C	T	1: 93,937,219 (GRCm39)	P388L	probably benign	Het
Ggn	C	T	7: 28,870,721 (GRCm39)	P47S	probably damaging	Het
Gli3	T	G	13: 15,899,370 (GRCm39)	L919R	probably damaging	Het
Gm5134	C	A	10: 75,810,079 (GRCm39)	T120N	probably benign	Het
Gmip	C	T	8: 70,268,259 (GRCm39)		probably benign	Het
Gpr39	C	T	1: 125,605,237 (GRCm39)	T55M	probably damaging	Het
Grk4	A	G	5: 34,873,557 (GRCm39)	T208A	probably damaging	Het
Gsdme	C	A	6: 50,223,107 (GRCm39)		probably benign	Het
Gucy2e	T	C	11: 69,126,402 (GRCm39)	D326G	probably benign	Het
Hadhb	T	C	5: 30,374,483 (GRCm39)		probably benign	Het
Hectd4	T	A	5: 121,419,959 (GRCm39)	Y635N	possibly damaging	Het
Hectd4	G	A	5: 121,443,736 (GRCm39)	E1319K	possibly damaging	Het
Ikbkb	A	T	8: 23,161,651 (GRCm39)	C412*	probably null	Het
Itpa	A	T	2: 130,521,338 (GRCm39)		probably benign	Het
Klhl10	A	G	11: 100,347,758 (GRCm39)	T605A	probably benign	Het
Krt74	T	C	15: 101,671,751 (GRCm39)		noncoding transcript	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lap3	T	C	5: 45,652,632 (GRCm39)		probably benign	Het
Lrrc10	T	A	10: 116,881,695 (GRCm39)	L123Q	probably damaging	Het
Map3k6	T	C	4: 132,971,105 (GRCm39)	L273P	probably damaging	Het
Mbl1	A	G	14: 40,880,706 (GRCm39)	N198S	probably damaging	Het
Mcf2l	A	G	8: 13,047,337 (GRCm39)	D233G	probably damaging	Het
Mdga2	T	C	12: 66,517,700 (GRCm39)	K45E	possibly damaging	Het
Mdn1	A	G	4: 32,738,619 (GRCm39)	N3524S	probably benign	Het
Mrc1	T	A	2: 14,243,353 (GRCm39)		probably benign	Het
Msto1	A	G	3: 88,818,848 (GRCm39)	L269P	probably benign	Het
Mtcl1	C	T	17: 66,665,109 (GRCm39)	E1149K	possibly damaging	Het
Naca	C	T	10: 127,880,659 (GRCm39)	A1897V	probably benign	Het
Ncapg	T	C	5: 45,850,489 (GRCm39)		probably benign	Het
Neb	A	T	2: 52,180,755 (GRCm39)		probably benign	Het
Or5p5	T	C	7: 107,413,895 (GRCm39)	Y35H	probably damaging	Het
Or8b12i	T	C	9: 20,082,561 (GRCm39)	Y102C	probably benign	Het
Or8g27	G	A	9: 39,129,024 (GRCm39)	V124I	possibly damaging	Het
Parp2	T	A	14: 51,057,130 (GRCm39)	Y361N	probably damaging	Het
Parp3	A	G	9: 106,348,995 (GRCm39)	F466L	possibly damaging	Het
Pcdh15	A	T	10: 74,126,808 (GRCm39)	N296Y	probably damaging	Het
Pcf11	G	A	7: 92,307,039 (GRCm39)	P1043L	probably damaging	Het
Pdzrn3	A	T	6: 101,128,014 (GRCm39)	I884N	probably damaging	Het
Phf24	G	T	4: 42,933,761 (GRCm39)	V48L	possibly damaging	Het
Pla2g4a	T	A	1: 149,716,398 (GRCm39)	M688L	possibly damaging	Het
Plcl2	T	C	17: 50,915,010 (GRCm39)	L673P	probably damaging	Het
Ppp1r3c	A	T	19: 36,711,617 (GRCm39)	F51Y	possibly damaging	Het
Prmt1	A	G	7: 44,628,225 (GRCm39)		probably benign	Het
Proc	G	A	18: 32,258,171 (GRCm39)	T258I	probably benign	Het
Prom2	T	G	2: 127,373,033 (GRCm39)	S679R	possibly damaging	Het
Psen2	T	C	1: 180,066,479 (GRCm39)	T153A	probably damaging	Het
Rem2	T	C	14: 54,713,754 (GRCm39)		probably benign	Het
Rin2	A	G	2: 145,702,953 (GRCm39)	K550E	probably benign	Het
Rtn4	T	A	11: 29,683,849 (GRCm39)		probably benign	Het
Semp2l1	T	A	1: 32,584,956 (GRCm39)	N318I	possibly damaging	Het
Ssh1	A	T	5: 114,084,766 (GRCm39)	D448E	probably benign	Het
Ssmem1	A	T	6: 30,519,547 (GRCm39)		probably null	Het
Stam2	A	T	2: 52,609,998 (GRCm39)		probably benign	Het
Syne1	A	G	10: 5,317,600 (GRCm39)	L498P	probably damaging	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,144,734 (GRCm39)		probably null	Het
Taf6l	G	T	19: 8,755,885 (GRCm39)	H254Q	probably benign	Het
Tas2r123	T	C	6: 132,824,295 (GRCm39)	V64A	probably benign	Het
Tnnc1	A	G	14: 30,933,365 (GRCm39)	D149G	probably damaging	Het
Tpp2	A	G	1: 44,038,853 (GRCm39)	D1133G	probably damaging	Het
Tpp2	T	A	1: 44,017,664 (GRCm39)	V756E	probably benign	Het
Traf3ip3	T	A	1: 192,860,539 (GRCm39)		probably null	Het
Tsen15	A	G	1: 152,247,548 (GRCm39)	V148A	probably damaging	Het
Ttn	T	A	2: 76,694,672 (GRCm39)		probably benign	Het
Ube2u	A	G	4: 100,343,870 (GRCm39)	I90V	probably benign	Het
Unc79	T	A	12: 103,045,329 (GRCm39)		probably null	Het
Usp47	T	C	7: 111,655,787 (GRCm39)	S155P	possibly damaging	Het
Wdr41	T	C	13: 95,154,619 (GRCm39)		probably benign	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp423	A	G	8: 88,508,887 (GRCm39)	S486P	possibly damaging	Het
Zfp628	A	T	7: 4,922,732 (GRCm39)	Q318L	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
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

Predicted Primers

PCR Primer
(F):5'- CAATGGGACTCCTCTCTGGAAAAGC -3'
(R):5'- CATGGGCAATTACTGGAGTGGAATGT -3'

Sequencing Primer
(F):5'- ATTGATGGCTCAGACTCTACATTTC -3'
(R):5'- ATTACTGGAGTGGAATGTGGTGC -3'

Posted On

2013-04-11