Mutagenetix > Incidental Mutations

Incidental Mutation 'R7871:Entpd3'

608118

Institutional Source

Beutler Lab

Gene Symbol

Entpd3

Ensembl Gene

ENSMUSG00000041608

Gene Name

ectonucleoside triphosphate diphosphohydrolase 3

Synonyms

HB6, Cd39l3, NTPDase-3

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R7871 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120539818-120568327 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120560586 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 313 (R313G)

Ref Sequence

ENSEMBL: ENSMUSP00000036830 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047687]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047687
AA Change: R313G

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000036830
Gene: ENSMUSG00000041608
AA Change: R313G

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:GDA1_CD39	49	483	4.3e-102	PFAM
transmembrane domain	486	508	N/A	INTRINSIC

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.] This gene encodes a plasma membrane-bound divalent cation-dependent E-type nucleotidase. The encoded protein is involved in the regulation of extracellular levels of ATP by hydrolysis of it and other nucleotides. Multiple transcript variants have been described. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no deficits in nucleotide hydrolysis or alterations in nociceptive behaviors except for a modest reduction in beta-alanine-mediated itch behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	G	5: 113,183,226	S1041P	probably benign	Het
Aatf	ACACACACACACACACACACACACACACACACACACACACACACACACAC	ACACACACACACACACACACACACACACACACACACACACACACACACACAC	11: 84,471,038		probably null	Het
Arpin	A	T	7: 79,927,715	W195R	probably damaging	Het
Asap1	A	G	15: 64,092,076	V1091A	probably damaging	Het
Asxl3	A	G	18: 22,524,224	T1764A	not run	Het
Bmp7	C	A	2: 172,939,991	A27S	probably benign	Het
Ccnh	T	A	13: 85,211,872	Y297*	probably null	Het
Ccno	C	A	13: 112,988,113	D72E	probably benign	Het
Cd70	T	G	17: 57,148,770	T67P	probably damaging	Het
Chml	CTGTTTG	CTG	1: 175,687,400		probably null	Het
Chst4	A	G	8: 110,030,913	F106S	probably damaging	Het
Cntnap3	A	C	13: 64,903,773	L23R	probably benign	Het
Crybg2	T	A	4: 134,087,599	L1288H	probably damaging	Het
Cyfip2	T	C	11: 46,242,350	H841R	probably damaging	Het
Cyp2c39	T	C	19: 39,560,961	Y308H	possibly damaging	Het
Cyp4f18	G	A	8: 71,988,643	P498S	possibly damaging	Het
Dennd1b	G	A	1: 139,062,873	E192K	probably damaging	Het
Dnah3	T	A	7: 119,967,552	I97F		Het
Erg28	G	A	12: 85,819,479	T75I	probably damaging	Het
Fam171a1	A	G	2: 3,225,384	H518R	probably benign	Het
Fam50b	G	A	13: 34,747,101	E187K	possibly damaging	Het
Galntl6	T	C	8: 57,837,188	E457G	probably damaging	Het
Glt8d1	A	T	14: 31,010,339	H192L	probably damaging	Het
Gm15446	T	A	5: 109,943,299	C472*	probably null	Het
Gm28363	A	T	1: 117,697,498	M1L	unknown	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,817		probably benign	Het
Gstp3	T	A	19: 4,058,746	K45*	probably null	Het
Hsd17b13	A	G	5: 103,965,815	F258L	possibly damaging	Het
Htt	T	C	5: 34,864,649	S1646P	probably benign	Het
Ipo11	T	C	13: 106,892,468	M326V	probably benign	Het
Itpr3	T	A	17: 27,117,179	I2293N	probably damaging	Het
Kntc1	T	A	5: 123,784,227	L963H	probably damaging	Het
Lyst	T	A	13: 13,636,052	L769*	probably null	Het
Map3k13	A	G	16: 21,921,596	S558G	probably benign	Het
Mbd1	G	A	18: 74,274,057		probably null	Het
Mep1a	T	C	17: 43,479,235	N408D	probably benign	Het
Mtrf1	A	G	14: 79,406,938	T229A	probably benign	Het
Muc4	C	T	16: 32,754,935	S1603L	unknown	Het
Myo1b	A	C	1: 51,779,580	I512S	possibly damaging	Het
N4bp2	A	G	5: 65,807,103	I832V	probably benign	Het
Nadsyn1	T	A	7: 143,798,496	K618*	probably null	Het
Ncstn	T	C	1: 172,075,456	D87G	probably benign	Het
Neurl4	T	C	11: 69,903,186	V156A	probably benign	Het
Nfasc	C	A	1: 132,600,013	G885V	not run	Het
Nox4	A	T	7: 87,314,127	Y180F	possibly damaging	Het
Nuggc	A	G	14: 65,623,251	T449A	probably benign	Het
Olfr799	A	G	10: 129,647,412	I95V	probably benign	Het
Pik3r4	T	C	9: 105,663,117	S735P	probably damaging	Het
Ppp1r9b	T	C	11: 95,001,909	I645T	probably damaging	Het
Rras2	G	A	7: 114,117,548		probably benign	Het
Rtel1	T	C	2: 181,321,029	M25T	probably damaging	Het
Serpinb3c	T	A	1: 107,273,153	Y178F	possibly damaging	Het
Sh3bp2	A	G	5: 34,559,085	H280R	not run	Het
Six4	CT	C	12: 73,104,239		probably benign	Het
Skor1	T	C	9: 63,146,501	E62G	probably damaging	Het
Slc22a22	T	A	15: 57,263,355	N106I	possibly damaging	Het
Slc44a4	T	A	17: 34,923,852		probably null	Het
Sptbn2	C	G	19: 4,749,012	R2037G	probably benign	Het
Stx5a	T	A	19: 8,755,118	W384R	unknown	Het
Topaz1	A	G	9: 122,780,700	Y1111C	possibly damaging	Het
Ttbk1	T	A	17: 46,446,238	M1157L	probably benign	Het
Ttn	T	C	2: 76,717,215	T32204A	probably benign	Het
Ttn	T	C	2: 76,748,145	T24135A	probably damaging	Het
Ttn	T	C	2: 76,965,137	E632G	unknown	Het
Vmn2r109	T	C	17: 20,540,520	I858M	probably benign	Het
Vmn2r71	A	T	7: 85,623,661	Q561L	possibly damaging	Het
Yme1l1	A	G	2: 23,181,065	D271G	probably damaging	Het
Zfp629	A	G	7: 127,611,995	F214S	probably damaging	Het
Zfp709	A	G	8: 71,889,464	I246V	probably benign	Het

Other mutations in Entpd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01459:Entpd3	APN	9	120561941	missense	probably damaging	1.00
R0054:Entpd3	UTSW	9	120557542	missense	probably damaging	0.99
R0265:Entpd3	UTSW	9	120558481	missense	probably damaging	1.00
R0417:Entpd3	UTSW	9	120557421	missense	probably damaging	0.99
R0607:Entpd3	UTSW	9	120557405	missense	possibly damaging	0.63
R1028:Entpd3	UTSW	9	120558361	missense	probably benign	0.06
R1449:Entpd3	UTSW	9	120566489	missense	probably damaging	1.00
R1490:Entpd3	UTSW	9	120554159	missense	probably benign	0.03
R1846:Entpd3	UTSW	9	120558375	missense	probably benign	0.33
R1848:Entpd3	UTSW	9	120558419	missense	probably damaging	1.00
R2125:Entpd3	UTSW	9	120555654	missense	probably damaging	1.00
R3810:Entpd3	UTSW	9	120562002	missense	probably benign	0.00
R5101:Entpd3	UTSW	9	120566542	makesense	probably null
R5109:Entpd3	UTSW	9	120566314	missense	possibly damaging	0.95
R6822:Entpd3	UTSW	9	120562038	critical splice donor site	probably null
R6968:Entpd3	UTSW	9	120560656	missense	probably benign	0.01
R7107:Entpd3	UTSW	9	120560599	missense	probably damaging	1.00
R7132:Entpd3	UTSW	9	120561020	missense	probably benign	0.00
R7310:Entpd3	UTSW	9	120560755	critical splice donor site	probably null
R7776:Entpd3	UTSW	9	120558502	missense	probably damaging	1.00
R7831:Entpd3	UTSW	9	120543959	missense	probably damaging	1.00
R7914:Entpd3	UTSW	9	120543959	missense	probably damaging	1.00
R7954:Entpd3	UTSW	9	120560586	missense	possibly damaging	0.81
X0017:Entpd3	UTSW	9	120555749	missense	probably benign	0.41
X0024:Entpd3	UTSW	9	120561900	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTTTGTCTGGCAGCAGCAC -3'
(R):5'- GCTAACTGGCCTCTTACCAC -3'

Sequencing Primer
(F):5'- CCTTGGCATCGCAAGGTAGTG -3'
(R):5'- CAAATGGCCCTTGAACCTTGG -3'

Posted On

2019-12-20