Mutagenetix > Incidental Mutation

Incidental Mutation 'R9644:Enpp3'

726152

Institutional Source

Beutler Lab

Gene Symbol

Enpp3

Ensembl Gene

ENSMUSG00000019989

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 3

Synonyms

CD203c

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.236) question?

Stock #

R9644 (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 24809903 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 198 (R198K)

Ref Sequence

ENSEMBL: ENSMUSP00000020169 (fasta)

Gene Model

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

AlphaFold

Q6DYE8

Predicted Effect

probably damaging
Transcript: ENSMUST00000020169
AA Change: R198K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020169
Gene: ENSMUSG00000019989
AA Change: R198K

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: ENSMUST00000217903

Predicted Effect

probably damaging
Transcript: ENSMUST00000219342
AA Change: R33K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot7	C	A	4: 152,186,295	S32*	probably null	Het
Adam34	T	A	8: 43,651,729	H293L	probably damaging	Het
Adgrl3	A	G	5: 81,724,189	N910S	probably damaging	Het
Ankrd11	C	T	8: 122,890,943	A2057T	probably benign	Het
Ankrd36	A	G	11: 5,643,835	D480G	possibly damaging	Het
Aox4	T	A	1: 58,228,119	D185E	probably benign	Het
Apol8	C	A	15: 77,749,495	V294L	probably damaging	Het
Arsk	G	A	13: 76,072,108	A289V	probably damaging	Het
Atg101	A	G	15: 101,290,566	D184G	probably benign	Het
Atp10b	C	T	11: 43,151,832	T73I	probably damaging	Het
Ccser2	A	T	14: 36,879,193	N411K	possibly damaging	Het
Cct5	A	G	15: 31,601,699	S3P	probably benign	Het
Chn1	A	T	2: 73,659,840	I31K	probably benign	Het
Clec2e	T	A	6: 129,093,480	I193L	probably benign	Het
Crim1	G	A	17: 78,280,068	G201R	probably damaging	Het
Ctrc	A	G	4: 141,845,025	V68A	probably damaging	Het
Dennd4c	T	A	4: 86,795,126	I438N	probably damaging	Het
Dnah5	T	A	15: 28,230,504	W183R	probably damaging	Het
Dnali1	T	A	4: 125,056,609	I253F	probably damaging	Het
Dyrk1b	T	C	7: 28,182,365	L83P	probably damaging	Het
Emx2	T	C	19: 59,463,995	I237T	probably benign	Het
Epb41l1	C	T	2: 156,525,245	P678L	possibly damaging	Het
Epm2aip1	C	T	9: 111,273,069	T370I	probably damaging	Het
Fam184a	T	G	10: 53,697,246	Q346P	probably damaging	Het
Foxi2	A	C	7: 135,411,998	H319P	possibly damaging	Het
Gatad1	A	G	5: 3,641,442	V250A	possibly damaging	Het
Gmeb1	T	C	4: 132,232,129	I205V	probably benign	Het
Gucy2g	C	G	19: 55,231,105	V362L	probably benign	Het
Hace1	T	C	10: 45,649,905	S281P	probably benign	Het
Helz	C	A	11: 107,672,861	A1709D	unknown	Het
Igf2bp2	T	A	16: 22,083,985	N115Y	probably damaging	Het
Igkv4-86	C	T	6: 68,910,609	V49I	probably benign	Het
Kdm2b	A	T	5: 122,982,779	V101E	probably damaging	Het
Kidins220	A	G	12: 25,011,019	D790G	probably damaging	Het
Kif18a	A	G	2: 109,341,172	T865A	probably benign	Het
Kif1b	A	G	4: 149,291,379	V10A	probably damaging	Het
Kmt2d	A	T	15: 98,845,504	M3925K	unknown	Het
Mcee	G	T	7: 64,411,982	A178S	possibly damaging	Het
Megf10	A	T	18: 57,242,701	H233L	probably benign	Het
Meox1	T	A	11: 101,878,656	E238V	probably benign	Het
Myo5a	G	A	9: 75,136,349	G207R	probably damaging	Het
Nemf	T	A	12: 69,312,662	N966I	possibly damaging	Het
Olfr1419	T	C	19: 11,871,210	E2G	probably benign	Het
Olfr1487	G	T	19: 13,619,980	A230S	probably benign	Het
Olfr342	A	T	2: 36,527,765	M118L	probably damaging	Het
Olfr773	A	G	10: 129,186,869	I184T	possibly damaging	Het
Pfas	T	C	11: 68,992,716	Q662R	probably benign	Het
Phf2	G	T	13: 48,870,742	C8*	probably null	Het
Pkhd1	T	A	1: 20,547,466	N965I	probably benign	Het
Plxnd1	C	T	6: 115,963,313	R1370Q	possibly damaging	Het
Prdm8	A	T	5: 98,185,779	T402S	probably benign	Het
Proz	T	A	8: 13,066,854	D135E	probably benign	Het
Prpmp5	T	A	6: 132,312,255	Q202L	unknown	Het
Prtg	T	A	9: 72,906,211	I951K	probably damaging	Het
Rasgef1b	A	T	5: 99,232,155	Y288*	probably null	Het
Sacs	T	A	14: 61,205,979	C1825S	probably benign	Het
Slc22a12	G	C	19: 6,537,643	P427R	probably damaging	Het
Slfn3	A	G	11: 83,214,902	Y575C	probably damaging	Het
St18	C	T	1: 6,859,052	T56I		Het
Synrg	T	C	11: 84,019,870	L876S	probably damaging	Het
Tchh	T	C	3: 93,447,359	C1369R	unknown	Het
Tet2	G	A	3: 133,487,303	Q457*	probably null	Het
Thap12	T	C	7: 98,715,288	V221A	probably damaging	Het
Tor3a	T	A	1: 156,673,556	D104V	probably damaging	Het
Trpc2	T	C	7: 102,095,232	V737A	possibly damaging	Het
Trpc4	A	G	3: 54,222,278	Y155C	probably damaging	Het
Tspyl1	T	C	10: 34,283,139	S287P	possibly damaging	Het
Ube2u	TAGAAGAAGAAGAAGAAGAAGAAGAAGA	TAGAAGAAGAAGAAGAAGAAGAAGA	4: 100,549,746		probably benign	Het
Ubr2	A	G	17: 46,955,780		probably null	Het
Vmn1r238	T	A	18: 3,122,635	T260S	probably benign	Het
Wisp1	T	G	15: 66,912,936	C153G		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
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
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'- TAGCCTGGATTCAGTGGTGC -3'
(R):5'- AACATCGATGCCTCCTGACTC -3'

Sequencing Primer
(F):5'- GATTCAGTGGTGCACTTATGAAG -3'
(R):5'- GCCCATTTGACTCCCAGAAATGG -3'

Posted On

2022-09-12