Mutagenetix > Incidental Mutation

Incidental Mutation 'R9224:Enpp3'

699695

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: 0.195) question?

Stock #

R9224 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24772406-24842823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24774818 bp (GRCm38)

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	T	19: 3,717,100	S229L	possibly damaging	Het
Actc1	TGA	T	2: 114,049,229		probably null	Het
Actl9	G	A	17: 33,434,030	A355T	probably benign	Het
Adamts8	A	G	9: 30,942,892	Q19R	probably benign	Het
Akr1c14	A	T	13: 4,080,695	Y216F	possibly damaging	Het
Alms1	T	C	6: 85,621,788	C1199R	possibly damaging	Het
Apc2	T	C	10: 80,314,277	S1722P	probably damaging	Het
Arid1a	T	C	4: 133,681,856	E1395G	unknown	Het
Atp6v0e2	T	C	6: 48,539,256	V46A	possibly damaging	Het
Bcar3	A	G	3: 122,525,442	R743G	probably damaging	Het
Bhmt2	A	G	13: 93,669,346	V56A	probably damaging	Het
Bsn	C	A	9: 108,105,487	R917L		Het
Cabyr	T	G	18: 12,754,221	V303G	possibly damaging	Het
Carmil1	A	T	13: 24,108,529	I429N	probably damaging	Het
Ccdc27	T	C	4: 154,037,717	N235D	unknown	Het
Ccdc61	T	C	7: 18,903,821	M37V	probably benign	Het
Cd40	A	T	2: 165,056,796	I48F	unknown	Het
Cdk13	A	T	13: 17,766,486	S664R	probably damaging	Het
Cel	TTA	TTATA	2: 28,559,429		probably null	Het
Cfap46	T	A	7: 139,678,500	R286*	probably null	Het
Ckap2	A	C	8: 22,169,938	I509S	possibly damaging	Het
Clptm1l	A	T	13: 73,604,225		probably benign	Het
Col11a1	T	G	3: 114,208,280	M1591R	unknown	Het
Col6a5	C	A	9: 105,937,395	A473S	unknown	Het
Cxcr2	T	A	1: 74,158,597	D83E	probably damaging	Het
Cyp2c39	G	A	19: 39,538,888	C226Y	probably benign	Het
Ddr1	A	C	17: 35,689,717	F352C	probably damaging	Het
Defb22	T	A	2: 152,485,801	T155S	unknown	Het
Dennd4c	G	T	4: 86,819,933	E935*	probably null	Het
Dst	A	C	1: 34,291,798	E4889D	probably damaging	Het
Emilin1	T	A	5: 30,917,479	C355S	probably damaging	Het
Fcnb	T	A	2: 28,079,148	D179V	probably damaging	Het
Ficd	T	A	5: 113,737,135	D88E	probably benign	Het
Fndc3b	T	C	3: 27,470,301	K437E	possibly damaging	Het
Fyb2	T	A	4: 104,995,908	W566R	probably benign	Het
Gm11639	A	G	11: 104,770,975	Q1314R	probably benign	Het
Gm14403	A	G	2: 177,508,543	Q94R	probably benign	Het
Gm14548	T	C	7: 3,897,235	T123A	probably benign	Het
Gm32687	T	A	10: 81,879,032	I86N	probably benign	Het
Gpam	T	G	19: 55,087,475	D235A	probably damaging	Het
Gstt4	T	C	10: 75,815,212	E192G	probably damaging	Het
H2-Q6	T	G	17: 35,425,333	V97G	probably benign	Het
Hcn1	G	A	13: 117,925,718	G507S	unknown	Het
Hydin	T	C	8: 110,532,884	I2496T	probably benign	Het
Jund	A	G	8: 70,699,215	D53G	probably damaging	Het
Kat6b	T	A	14: 21,669,963	M1461K	probably benign	Het
Lnx1	T	G	5: 74,606,149	K435Q	probably benign	Het
Lpcat1	C	A	13: 73,510,042	L316M	probably damaging	Het
Lrrtm3	ATTTT	ATTTTT	10: 64,089,256		probably null	Het
Ly6c1	T	A	15: 75,044,616	T126S	probably benign	Het
Macf1	A	G	4: 123,432,897	S4938P	probably damaging	Het
Map2k2	T	C	10: 81,118,174	V158A	possibly damaging	Het
Map3k4	A	G	17: 12,238,086	V1323A	probably damaging	Het
Map4k5	A	T	12: 69,892,693	V23E	possibly damaging	Het
Med30	T	G	15: 52,719,443	L92R	probably damaging	Het
Mroh8	C	T	2: 157,221,149	G851S	possibly damaging	Het
Msmb	T	A	14: 32,158,103	C83*	probably null	Het
Mtif2	A	T	11: 29,544,364	R655S	probably benign	Het
Myo10	C	T	15: 25,807,995	S1901L	probably benign	Het
Myom2	A	T	8: 15,128,804	I1279F	possibly damaging	Het
Nat9	T	C	11: 115,184,615	I67V	probably damaging	Het
Ncam1	A	G	9: 49,508,695	S774P	probably damaging	Het
Ndufaf6	T	C	4: 11,062,089	T181A	probably damaging	Het
Nlrp4f	T	A	13: 65,185,015	K110*	probably null	Het
Nlrp9b	T	C	7: 20,019,292	S41P	probably benign	Het
Nlrp9b	A	G	7: 20,023,551	T238A	probably benign	Het
Noxo1	A	T	17: 24,700,331	E342D	probably benign	Het
Nt5dc2	T	C	14: 31,135,708	M55T	probably benign	Het
Olfr1040	T	A	2: 86,145,876	N286I	probably damaging	Het
Olfr342	A	T	2: 36,527,826	Q138L	probably benign	Het
Olfr453	T	C	6: 42,744,970	F311S	probably benign	Het
Olfr466	C	T	13: 65,152,389	T55I	probably damaging	Het
Olfr700	T	C	7: 106,806,282	Y60C	probably damaging	Het
Olfr782	T	A	10: 129,350,581	M6K	probably benign	Het
Olfr800	C	A	10: 129,660,138	L111M	probably damaging	Het
Olfr92	T	C	17: 37,111,875	T36A	possibly damaging	Het
P4ha2	C	T	11: 54,119,137	P240L	possibly damaging	Het
Pcdha11	T	A	18: 37,006,020	L234Q	probably damaging	Het
Pgm3	C	T	9: 86,556,362	A457T	probably benign	Het
Pkp4	T	C	2: 59,314,394	V533A	probably benign	Het
Plac8l1	T	C	18: 42,192,637	T68A	possibly damaging	Het
Pou2f3	A	T	9: 43,139,399	I222N	probably damaging	Het
Ppp1r14d	T	C	2: 119,229,741	D20G	probably benign	Het
Ppp1r37	C	A	7: 19,531,804	G679V	probably damaging	Het
Ppp6r2	T	A	15: 89,262,396	I199N	probably damaging	Het
Prune2	A	G	19: 17,120,029	T966A	probably damaging	Het
Ptdss2	T	C	7: 141,154,885	V375A	probably benign	Het
Rara	TGCCCCGC	TGCCCCGCCCCGC	11: 98,966,410		probably null	Het
Rin2	T	A	2: 145,878,902	C718*	probably null	Het
Rptor	C	T	11: 119,894,287	T1170I	probably benign	Het
Samd5	T	C	10: 9,674,515	Y150C	probably damaging	Het
Setd1b	T	C	5: 123,158,710	S1245P	unknown	Het
Sipa1l2	T	C	8: 125,491,977	E207G	probably damaging	Het
Slc29a1	C	A	17: 45,586,227	V378L	probably damaging	Het
Slc2a12	T	G	10: 22,665,362	I372S	possibly damaging	Het
Slc7a10	T	A	7: 35,195,214	Y99*	probably null	Het
Smco3	A	G	6: 136,831,519	V119A	probably damaging	Het
Sptlc3	C	T	2: 139,494,234	T10I	probably benign	Het
Sri	T	A	5: 8,063,323	W105R	probably damaging	Het
Stk35	T	C	2: 129,810,571	Y331H	probably damaging	Het
Tipin	T	C	9: 64,288,148	I12T	probably benign	Het
Tlr5	A	G	1: 182,975,128	T666A	probably benign	Het
Tmprss11g	C	A	5: 86,492,144	V222L	probably benign	Het
Tnfrsf11b	T	A	15: 54,252,160	Y347F	possibly damaging	Het
Traf6	A	G	2: 101,697,167	T421A	probably benign	Het
Trrap	T	A	5: 144,771,239	D30E	possibly damaging	Het
Ube2k	T	A	5: 65,594,504	Y162N	probably damaging	Het
Uck2	A	T	1: 167,237,602	V49E	probably damaging	Het
Vcam1	A	T	3: 116,110,943	Y718*	probably null	Het
Zan	T	C	5: 137,474,007	N159S	probably damaging	Het
Zfp438	A	G	18: 5,210,788	L750P	probably damaging	Het
Zfp54	A	T	17: 21,433,775	Y177F	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
R2157:Enpp3	UTSW	10	24776878	missense	probably damaging	1.00
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
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'- TTTACATATGCAGATGCGCG -3'
(R):5'- TGCCATTTCCTTAATGCCAAG -3'

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

Posted On

2022-02-07