Mutagenetix > Incidental Mutation

Incidental Mutation 'R5101:Entpd3'

392367

Institutional Source

Beutler Lab

Gene Symbol

Entpd3

Ensembl Gene

ENSMUSG00000041608

Gene Name

ectonucleoside triphosphate diphosphohydrolase 3

Synonyms

Cd39l3, NTPDase-3, HB6

MMRRC Submission

042852-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R5101 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120368884-120397393 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 120395608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 530 (*530W)

Ref Sequence

ENSEMBL: ENSMUSP00000036830 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047687] [ENSMUST00000165532]

AlphaFold

Q8BFW6

Predicted Effect

probably null
Transcript: ENSMUST00000047687
AA Change: *530W

SMART Domains

Protein: ENSMUSP00000036830
Gene: ENSMUSG00000041608
AA Change: *530W

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

Predicted Effect

probably benign
Transcript: ENSMUST00000165532

SMART Domains

Protein: ENSMUSP00000131489
Gene: ENSMUSG00000025794

Domain	Start	End	E-Value	Type
Blast:KOW	6	33	1e-7	BLAST
Pfam:Ribosomal_L14e	46	120	3.8e-35	PFAM
low complexity region	137	217	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213310

Meta Mutation Damage Score

0.8290

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

100% (57/57)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	T	C	12: 21,423,406 (GRCm39)	T10A	possibly damaging	Het
Adgrg3	T	C	8: 95,763,563 (GRCm39)	F288S	probably benign	Het
Ago2	A	G	15: 72,991,339 (GRCm39)	V533A	probably damaging	Het
Akap9	T	G	5: 4,051,748 (GRCm39)	V1505G	probably damaging	Het
Apob	T	C	12: 8,061,934 (GRCm39)	I3439T	probably benign	Het
C1qtnf7	T	A	5: 43,773,314 (GRCm39)	Y204*	probably null	Het
Cdc42bpb	T	C	12: 111,265,549 (GRCm39)	E1461G	probably damaging	Het
Cdh3	C	T	8: 107,268,024 (GRCm39)	A353V	possibly damaging	Het
Clec4d	A	G	6: 123,244,071 (GRCm39)	Y60C	probably damaging	Het
Cmya5	T	A	13: 93,228,111 (GRCm39)	T2326S	possibly damaging	Het
Cnot1	G	A	8: 96,486,815 (GRCm39)	L631F	possibly damaging	Het
Cntnap5a	C	T	1: 116,370,026 (GRCm39)	T881I	probably benign	Het
Col6a1	T	A	10: 76,545,740 (GRCm39)	T911S	unknown	Het
Ctsw	A	G	19: 5,515,703 (GRCm39)	V287A	probably benign	Het
Cyp2c23	T	C	19: 44,017,622 (GRCm39)	E2G	unknown	Het
Cytip	A	T	2: 58,037,911 (GRCm39)	I151N	probably damaging	Het
Dnah10	A	G	5: 124,909,577 (GRCm39)	T4399A	possibly damaging	Het
Dock3	A	T	9: 106,846,980 (GRCm39)	I883N	probably damaging	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gp1ba	G	A	11: 70,532,225 (GRCm39)	V664M	probably benign	Het
Gpd2	T	A	2: 57,245,913 (GRCm39)	I481N	probably damaging	Het
Gvin-ps5	T	C	7: 105,929,096 (GRCm39)		noncoding transcript	Het
Ildr2	A	G	1: 166,135,331 (GRCm39)	D342G	probably damaging	Het
Krt87	A	G	15: 101,385,391 (GRCm39)	I327T	probably benign	Het
Lats1	T	A	10: 7,588,348 (GRCm39)	C988*	probably null	Het
Lpin2	G	A	17: 71,550,965 (GRCm39)	W708*	probably null	Het
Mast4	T	C	13: 102,872,864 (GRCm39)	D2168G	probably benign	Het
Myo6	G	T	9: 80,177,321 (GRCm39)	E606*	probably null	Het
Nek7	A	G	1: 138,443,431 (GRCm39)	V174A	probably benign	Het
Nid1	T	A	13: 13,658,339 (GRCm39)	C695S	probably damaging	Het
Nme8	A	G	13: 19,875,017 (GRCm39)		probably null	Het
Nr2c2	T	C	6: 92,131,497 (GRCm39)		probably null	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2ag18	A	T	7: 106,405,420 (GRCm39)	I83K	possibly damaging	Het
Or4x11	A	G	2: 89,867,391 (GRCm39)	M43V	probably benign	Het
Or51ab3	G	A	7: 103,201,150 (GRCm39)	E53K	probably damaging	Het
Or9g19	A	G	2: 85,600,268 (GRCm39)	N41S	probably damaging	Het
Pms2	A	G	5: 143,865,006 (GRCm39)	D696G	probably damaging	Het
Psapl1	T	A	5: 36,361,494 (GRCm39)	C29S	probably damaging	Het
Scn3a	A	T	2: 65,291,850 (GRCm39)	V1632D	probably damaging	Het
Slc22a1	C	T	17: 12,886,129 (GRCm39)	G168D	probably damaging	Het
Smad4	A	G	18: 73,808,931 (GRCm39)	V112A	probably benign	Het
Smc4	T	C	3: 68,935,845 (GRCm39)	V796A	probably benign	Het
Smco4	A	G	9: 15,455,968 (GRCm39)	E18G	unknown	Het
Spata31e2	T	C	1: 26,722,417 (GRCm39)	E921G	possibly damaging	Het
Sugp2	A	G	8: 70,713,139 (GRCm39)	E1035G	probably damaging	Het
Syde2	T	C	3: 145,721,393 (GRCm39)	S820P	probably damaging	Het
Syn2	T	C	6: 115,240,860 (GRCm39)	L410P	probably damaging	Het
Tmem131l	T	C	3: 83,844,811 (GRCm39)	N466S	probably damaging	Het
Uba1y	T	G	Y: 821,447 (GRCm39)		probably null	Het
Unc79	T	C	12: 103,078,769 (GRCm39)	S1645P	probably damaging	Het
Vmn2r17	A	T	5: 109,576,217 (GRCm39)	S363C	probably damaging	Het
Vmn2r78	T	C	7: 86,571,563 (GRCm39)	Y458H	probably damaging	Het

Other mutations in Entpd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01459:Entpd3	APN	9	120,391,007 (GRCm39)	missense	probably damaging	1.00
G1citation:Entpd3	UTSW	9	120,391,104 (GRCm39)	critical splice donor site	probably null
R0054:Entpd3	UTSW	9	120,386,608 (GRCm39)	missense	probably damaging	0.99
R0265:Entpd3	UTSW	9	120,387,547 (GRCm39)	missense	probably damaging	1.00
R0417:Entpd3	UTSW	9	120,386,487 (GRCm39)	missense	probably damaging	0.99
R0607:Entpd3	UTSW	9	120,386,471 (GRCm39)	missense	possibly damaging	0.63
R1028:Entpd3	UTSW	9	120,387,427 (GRCm39)	missense	probably benign	0.06
R1449:Entpd3	UTSW	9	120,395,555 (GRCm39)	missense	probably damaging	1.00
R1490:Entpd3	UTSW	9	120,383,225 (GRCm39)	missense	probably benign	0.03
R1846:Entpd3	UTSW	9	120,387,441 (GRCm39)	missense	probably benign	0.33
R1848:Entpd3	UTSW	9	120,387,485 (GRCm39)	missense	probably damaging	1.00
R2125:Entpd3	UTSW	9	120,384,720 (GRCm39)	missense	probably damaging	1.00
R3810:Entpd3	UTSW	9	120,391,068 (GRCm39)	missense	probably benign	0.00
R5109:Entpd3	UTSW	9	120,395,380 (GRCm39)	missense	possibly damaging	0.95
R6822:Entpd3	UTSW	9	120,391,104 (GRCm39)	critical splice donor site	probably null
R6968:Entpd3	UTSW	9	120,389,722 (GRCm39)	missense	probably benign	0.01
R7107:Entpd3	UTSW	9	120,389,665 (GRCm39)	missense	probably damaging	1.00
R7132:Entpd3	UTSW	9	120,390,086 (GRCm39)	missense	probably benign	0.00
R7310:Entpd3	UTSW	9	120,389,821 (GRCm39)	critical splice donor site	probably null
R7776:Entpd3	UTSW	9	120,387,568 (GRCm39)	missense	probably damaging	1.00
R7831:Entpd3	UTSW	9	120,373,025 (GRCm39)	missense	probably damaging	1.00
R7871:Entpd3	UTSW	9	120,389,652 (GRCm39)	missense	possibly damaging	0.81
R8088:Entpd3	UTSW	9	120,383,239 (GRCm39)	missense	probably benign	0.08
R8121:Entpd3	UTSW	9	120,384,720 (GRCm39)	missense	probably damaging	1.00
R9010:Entpd3	UTSW	9	120,384,825 (GRCm39)	missense	probably benign	0.01
R9553:Entpd3	UTSW	9	120,387,546 (GRCm39)	missense	probably damaging	1.00
X0017:Entpd3	UTSW	9	120,384,815 (GRCm39)	missense	probably benign	0.41
X0024:Entpd3	UTSW	9	120,390,966 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAAGTCCCCTGATCCATC -3'
(R):5'- TGATTCCCAGTGGATCAGCAAG -3'

Sequencing Primer
(F):5'- GAAGTCCCCTGATCCATCTACCC -3'
(R):5'- CAGTGGATCAGCAAGCAGGTAG -3'

Posted On

2016-06-15