Mutagenetix > Incidental Mutation

Incidental Mutation 'R2157:Enpp3'

234928

Institutional Source

Beutler Lab

Gene Symbol

Enpp3

Ensembl Gene

ENSMUSG00000019989

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 3

Synonyms

CD203c

MMRRC Submission

040160-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R2157 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24772406-24842823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24776878 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 727 (F727S)

Ref Sequence

ENSEMBL: ENSMUSP00000020169 (fasta)

Gene Model

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

AlphaFold

Q6DYE8

Predicted Effect

probably damaging
Transcript: ENSMUST00000020169
AA Change: F727S

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

SMART Domains

Protein: ENSMUSP00000020169
Gene: ENSMUSG00000019989
AA Change: F727S

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

0.6118

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (80/80)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	A	T	8: 124,651,429		probably benign	Het
4930590J08Rik	A	G	6: 91,917,698		probably null	Het
4930590J08Rik	T	A	6: 91,942,487	M709K	possibly damaging	Het
A930011G23Rik	T	G	5: 99,232,097	I394L	probably damaging	Het
Abca13	A	C	11: 9,577,170	M4528L	probably damaging	Het
Abcb1b	G	A	5: 8,824,791	A484T	probably benign	Het
Actn1	A	T	12: 80,173,117	M660K	probably benign	Het
Adgra3	G	T	5: 50,001,941	N322K	possibly damaging	Het
Ahnak	A	G	19: 9,000,684	I56V	possibly damaging	Het
Amotl2	A	G	9: 102,730,589		probably benign	Het
Apoa1	T	C	9: 46,229,173	V34A	probably damaging	Het
Arrdc1	G	A	2: 24,926,975	A113V	probably damaging	Het
As3mt	A	G	19: 46,707,792	D13G	probably benign	Het
C77080	C	T	4: 129,224,124	R249H	possibly damaging	Het
Cald1	A	G	6: 34,686,041	Q13R	possibly damaging	Het
Ccdc28a	G	A	10: 18,230,455	T41I	probably benign	Het
Ccdc30	A	T	4: 119,333,724		probably benign	Het
Cct2	T	C	10: 117,062,809		probably benign	Het
Cdh12	T	C	15: 21,583,787	I571T	possibly damaging	Het
Cdh15	G	A	8: 122,862,024	R279Q	probably damaging	Het
Ckm	T	C	7: 19,421,354	S372P	probably benign	Het
Comp	C	T	8: 70,379,570	Q554*	probably null	Het
Csf2ra	T	C	19: 61,227,071	T70A	probably benign	Het
Csmd3	T	C	15: 47,695,787	E2256G	probably damaging	Het
Dicer1	A	T	12: 104,702,949	V1158D	probably benign	Het
Dner	A	G	1: 84,383,938	F650S	possibly damaging	Het
Dnm3	T	C	1: 162,307,893	N437S	possibly damaging	Het
Dpy19l2	A	T	9: 24,584,632	C597S	probably benign	Het
Dpy19l2	T	C	9: 24,680,780	I176V	probably benign	Het
Edf1	T	C	2: 25,558,031		probably null	Het
Epb42	C	T	2: 121,021,762	M583I	probably benign	Het
Foxred1	A	G	9: 35,205,363	F117S	probably damaging	Het
Fstl5	T	A	3: 76,708,065	M811K	possibly damaging	Het
Gm5117	A	T	8: 31,738,194		noncoding transcript	Het
Gm6803	A	T	12: 88,018,711	S21T	unknown	Het
Gpm6a	T	C	8: 55,058,798	S236P	probably damaging	Het
Grik1	G	A	16: 88,056,124	A57V	probably damaging	Het
Hdgfl2	G	A	17: 56,098,691	V476I	possibly damaging	Het
Il17b	G	T	18: 61,690,368	W91L	probably damaging	Het
Jph4	C	A	14: 55,113,527	R344L	probably benign	Het
Map3k21	A	G	8: 125,937,266	D522G	probably benign	Het
Mast2	A	G	4: 116,322,283	L398S	probably damaging	Het
Mbtd1	A	G	11: 93,910,388	T132A	probably benign	Het
Mbtps1	G	T	8: 119,542,727	T208K	probably benign	Het
Mr1	A	G	1: 155,146,630		probably null	Het
Mthfsd	G	A	8: 121,101,501	L140F	probably damaging	Het
Mybpc2	C	G	7: 44,509,845	D594H	possibly damaging	Het
Nalcn	T	C	14: 123,409,752	M570V	probably benign	Het
Ncam2	T	C	16: 81,490,389	I397T	probably damaging	Het
Ndufs4	C	T	13: 114,316,978	V75I	probably damaging	Het
Nek4	T	A	14: 30,979,968		probably null	Het
Nfatc1	G	T	18: 80,635,845	A762D	possibly damaging	Het
Npc1	A	G	18: 12,191,809	I1209T	probably damaging	Het
Olfr1206	A	T	2: 88,864,869	N88I	probably benign	Het
Olfr370	T	C	8: 83,541,621	I159T	probably benign	Het
Pak7	T	C	2: 136,100,957	D421G	probably damaging	Het
Pias1	A	G	9: 62,912,830	V285A	possibly damaging	Het
Pigg	T	A	5: 108,318,889	I212N	probably damaging	Het
Plcd3	A	T	11: 103,071,148	C711S	probably benign	Het
Plscr5	G	A	9: 92,198,497	R12K	probably benign	Het
Plxna4	T	C	6: 32,516,974	I236V	probably benign	Het
Ppp1r26	T	C	2: 28,452,358	F667L	probably benign	Het
Pqlc2	A	T	4: 139,301,855	V106D	probably damaging	Het
Prkx	A	G	X: 77,771,314	F247L	probably benign	Het
Qpct	G	A	17: 79,070,686	R95Q	probably benign	Het
Ralgapb	G	T	2: 158,437,472	M159I	probably benign	Het
Rnf145	T	C	11: 44,555,170	L277P	probably damaging	Het
Scn9a	A	G	2: 66,536,325	S705P	probably damaging	Het
Slc4a8	A	G	15: 100,806,373	T750A	probably damaging	Het
Syne2	A	G	12: 76,094,456	E6114G	probably damaging	Het
Tat	T	C	8: 109,997,604	M375T	probably damaging	Het
Tex10	C	T	4: 48,436,522		probably benign	Het
Tmprss11e	T	C	5: 86,713,728	K320E	probably benign	Het
Tnr	T	C	1: 159,858,270	I357T	probably damaging	Het
Vmn1r229	A	T	17: 20,815,376	R294S	possibly damaging	Het
Vmn2r116	G	A	17: 23,401,469	D726N	probably damaging	Het
Vpreb2	T	A	16: 17,981,070	L140*	probably null	Het
Wfs1	G	A	5: 36,967,942	P535L	probably damaging	Het
Xdh	A	G	17: 73,922,537	L307P	probably damaging	Het
Zfp160	A	G	17: 21,020,828	S53G	probably benign	Het
Zfp319	A	G	8: 95,328,031	C515R	probably damaging	Het
Zfp747	A	G	7: 127,375,757	F24L	possibly damaging	Het
Zzef1	A	T	11: 72,848,634		probably benign	Het

Other mutations in Enpp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Enpp3	APN	10	24787772	missense	probably benign	0.00
IGL00778:Enpp3	APN	10	24798262	missense	probably damaging	1.00
IGL01147:Enpp3	APN	10	24774907	missense	probably damaging	1.00
IGL01343:Enpp3	APN	10	24805922	nonsense	probably null
IGL01642:Enpp3	APN	10	24798269	missense	probably damaging	1.00
IGL01814:Enpp3	APN	10	24792025	missense	possibly damaging	0.68
IGL02083:Enpp3	APN	10	24776794	missense	probably damaging	1.00
IGL02152:Enpp3	APN	10	24774002	missense	probably damaging	1.00
IGL02186:Enpp3	APN	10	24791983	splice site	probably benign
IGL02517:Enpp3	APN	10	24809848	splice site	probably benign
IGL02956:Enpp3	APN	10	24774943	splice site	probably benign
R0017:Enpp3	UTSW	10	24799153	splice site	probably null
R0042:Enpp3	UTSW	10	24774824	missense	probably damaging	1.00
R0110:Enpp3	UTSW	10	24776781	missense	probably damaging	1.00
R0218:Enpp3	UTSW	10	24776869	missense	possibly damaging	0.80
R0403:Enpp3	UTSW	10	24804436	missense	probably damaging	1.00
R0433:Enpp3	UTSW	10	24820597	missense	probably benign	0.00
R0450:Enpp3	UTSW	10	24776781	missense	probably damaging	1.00
R0510:Enpp3	UTSW	10	24776781	missense	probably damaging	1.00
R0826:Enpp3	UTSW	10	24795716	missense	probably damaging	1.00
R1245:Enpp3	UTSW	10	24784953	splice site	probably benign
R1261:Enpp3	UTSW	10	24774934	missense	probably damaging	0.97
R1633:Enpp3	UTSW	10	24795782	missense	probably damaging	1.00
R1903:Enpp3	UTSW	10	24778789	missense	probably damaging	1.00
R1913:Enpp3	UTSW	10	24776771	nonsense	probably null
R1966:Enpp3	UTSW	10	24807491	missense	probably damaging	0.99
R2179:Enpp3	UTSW	10	24805895	missense	probably benign	0.00
R2380:Enpp3	UTSW	10	24776872	missense	probably benign
R2410:Enpp3	UTSW	10	24774818	missense	probably benign	0.00
R3794:Enpp3	UTSW	10	24831732	splice site	probably null
R3896:Enpp3	UTSW	10	24777949	missense	possibly damaging	0.79
R4334:Enpp3	UTSW	10	24793589	missense	probably damaging	1.00
R4569:Enpp3	UTSW	10	24776882	missense	probably damaging	1.00
R4766:Enpp3	UTSW	10	24773927	missense	probably damaging	1.00
R4951:Enpp3	UTSW	10	24798277	missense	probably damaging	1.00
R4998:Enpp3	UTSW	10	24807538	missense	probably benign	0.01
R5045:Enpp3	UTSW	10	24776767	missense	probably damaging	1.00
R5276:Enpp3	UTSW	10	24809916	missense	probably damaging	1.00
R5331:Enpp3	UTSW	10	24808160	missense	probably damaging	1.00
R5569:Enpp3	UTSW	10	24778821	missense	probably damaging	0.98
R5975:Enpp3	UTSW	10	24774842	missense	probably benign	0.37
R6117:Enpp3	UTSW	10	24787852	missense	probably damaging	1.00
R6419:Enpp3	UTSW	10	24808191	missense	probably damaging	1.00
R6677:Enpp3	UTSW	10	24777957	missense	possibly damaging	0.88
R6735:Enpp3	UTSW	10	24807453	missense	probably damaging	1.00
R6833:Enpp3	UTSW	10	24809870	missense	probably damaging	1.00
R6999:Enpp3	UTSW	10	24808166	missense	probably damaging	1.00
R7022:Enpp3	UTSW	10	24826195	missense	probably damaging	0.99
R7173:Enpp3	UTSW	10	24774047	missense	probably damaging	1.00
R7224:Enpp3	UTSW	10	24776884	missense	possibly damaging	0.63
R7227:Enpp3	UTSW	10	24817844	missense	unknown
R7487:Enpp3	UTSW	10	24805923	missense	probably benign	0.02
R7529:Enpp3	UTSW	10	24798174	missense	probably damaging	0.97
R7583:Enpp3	UTSW	10	24836092	start codon destroyed	probably null	0.83
R7692:Enpp3	UTSW	10	24784841	nonsense	probably null
R7962:Enpp3	UTSW	10	24784854	missense	probably damaging	1.00
R7965:Enpp3	UTSW	10	24778819	missense	possibly damaging	0.90
R8153:Enpp3	UTSW	10	24809879	missense	probably damaging	1.00
R8262:Enpp3	UTSW	10	24777926	missense	probably damaging	1.00
R8305:Enpp3	UTSW	10	24824929	critical splice acceptor site	probably null
R8393:Enpp3	UTSW	10	24826241	missense	probably damaging	1.00
R8776:Enpp3	UTSW	10	24774835	missense	probably damaging	1.00
R8776-TAIL:Enpp3	UTSW	10	24774835	missense	probably damaging	1.00
R8962:Enpp3	UTSW	10	24820615	missense	probably benign	0.12
R9047:Enpp3	UTSW	10	24798274	missense	possibly damaging	0.83
R9093:Enpp3	UTSW	10	24795804	missense	probably benign	0.00
R9117:Enpp3	UTSW	10	24826180	missense	possibly damaging	0.67
R9194:Enpp3	UTSW	10	24799194	missense	possibly damaging	0.90
R9224:Enpp3	UTSW	10	24774818	missense	probably benign	0.00
R9244:Enpp3	UTSW	10	24778791	missense	probably damaging	1.00
R9387:Enpp3	UTSW	10	24836092	start codon destroyed	probably null	0.83
R9644:Enpp3	UTSW	10	24809903	missense	probably damaging	0.98
R9658:Enpp3	UTSW	10	24773904	makesense	probably null
X0026:Enpp3	UTSW	10	24826242	missense	probably damaging	1.00
Z1176:Enpp3	UTSW	10	24787793	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCACAGTATCTAGTTCAAGTTGAG -3'
(R):5'- CACTGTTGAAGGAATTTGGAGAC -3'

Sequencing Primer
(F):5'- TCCGGAGCATCAAAATGG -3'
(R):5'- AAGTTCTCATCAACATGGCTGC -3'

Posted On

2014-10-01