Mutagenetix > Incidental Mutation

Incidental Mutation 'R5109:Entpd3'

393750

Institutional Source

Beutler Lab

Gene Symbol

Entpd3

Ensembl Gene

ENSMUSG00000041608

Gene Name

ectonucleoside triphosphate diphosphohydrolase 3

Synonyms

Cd39l3, NTPDase-3, HB6

MMRRC Submission

042697-MU

Accession Numbers

Essential gene?

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

Stock #

R5109 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120368884-120397393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 120395380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 454 (N454K)

Ref Sequence

ENSEMBL: ENSMUSP00000036830 (fasta)

Gene Model

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

AlphaFold

Q8BFW6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047687
AA Change: N454K

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000036830
Gene: ENSMUSG00000041608
AA Change: N454K

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.2%

Validation Efficiency

95% (78/82)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	T	C	5: 90,391,395 (GRCm39)	S1841G	possibly damaging	Het
Anxa10	T	C	8: 62,516,093 (GRCm39)	E193G	possibly damaging	Het
Ap3d1	T	C	10: 80,545,284 (GRCm39)	S1056G	probably benign	Het
Apbb1	T	C	7: 105,214,242 (GRCm39)	N62D	probably damaging	Het
Apobec2	A	T	17: 48,730,022 (GRCm39)	Y215N	probably damaging	Het
Apobec2	T	A	17: 48,730,024 (GRCm39)	Y214F	probably damaging	Het
Appl2	A	T	10: 83,436,871 (GRCm39)	V630E	probably benign	Het
Bud23	T	C	5: 135,089,877 (GRCm39)		probably benign	Het
Cacna1b	A	T	2: 24,580,797 (GRCm39)	M683K	possibly damaging	Het
Cbfa2t2	T	A	2: 154,373,293 (GRCm39)	D187E	probably damaging	Het
Cfap54	G	T	10: 92,773,753 (GRCm39)	F96L	probably benign	Het
Cimap1a	A	T	7: 140,429,461 (GRCm39)	S197C	probably benign	Het
Crebbp	A	G	16: 3,906,295 (GRCm39)		probably benign	Het
Crocc	C	T	4: 140,755,722 (GRCm39)	R1102Q	probably damaging	Het
Dcaf12	T	C	4: 41,298,329 (GRCm39)	D273G	possibly damaging	Het
Dchs1	T	C	7: 105,414,221 (GRCm39)	T865A	probably benign	Het
Dhfr	A	T	13: 92,491,788 (GRCm39)	I8F	probably damaging	Het
Dnaja2	A	T	8: 86,279,887 (GRCm39)	F97L	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Doc2b	T	C	11: 75,667,967 (GRCm39)	D261G	probably benign	Het
Ear1	A	G	14: 44,056,485 (GRCm39)	Y128H	probably benign	Het
Elac2	T	A	11: 64,883,142 (GRCm39)	I171N	probably damaging	Het
Flrt3	A	G	2: 140,502,663 (GRCm39)	S322P	possibly damaging	Het
Fn1	C	T	1: 71,688,394 (GRCm39)	C170Y	probably damaging	Het
Gabbr1	T	A	17: 37,382,920 (GRCm39)		probably benign	Het
Gm7247	T	G	14: 51,602,774 (GRCm39)	S37A	probably damaging	Het
Gm8775	T	A	3: 4,277,008 (GRCm39)		noncoding transcript	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Gria4	A	C	9: 4,472,168 (GRCm39)	N440K	probably damaging	Het
H2-T22	T	A	17: 36,350,113 (GRCm39)	R334*	probably null	Het
Ift172	T	C	5: 31,423,330 (GRCm39)	D817G	probably benign	Het
Igkv9-124	T	A	6: 67,919,348 (GRCm39)	R21S	possibly damaging	Het
Itgam	G	A	7: 127,712,390 (GRCm39)	V846I	probably benign	Het
Kif11	T	A	19: 37,373,063 (GRCm39)	M94K	possibly damaging	Het
Krtcap2	T	C	3: 89,154,085 (GRCm39)	V2A	probably benign	Het
Lrrc47	A	G	4: 154,101,933 (GRCm39)	D400G	probably damaging	Het
Man2a1	T	A	17: 65,059,443 (GRCm39)	V1110E	probably benign	Het
Mfsd9	T	A	1: 40,813,365 (GRCm39)	I317F	probably damaging	Het
Mindy4	A	T	6: 55,193,730 (GRCm39)		probably null	Het
Mrpl53	A	G	6: 83,086,541 (GRCm39)	T82A	probably damaging	Het
Myo3b	A	G	2: 69,925,637 (GRCm39)	K35E	possibly damaging	Het
Nalcn	A	G	14: 123,515,650 (GRCm39)	V1717A	possibly damaging	Het
Ncoa2	A	G	1: 13,257,070 (GRCm39)	V143A	probably damaging	Het
Ndufa9	A	C	6: 126,809,520 (GRCm39)		probably null	Het
Or10ag60	G	A	2: 87,438,319 (GRCm39)	G196R	possibly damaging	Het
Or10ag60	G	A	2: 87,437,755 (GRCm39)	A8T	possibly damaging	Het
Or12e9	A	G	2: 87,201,878 (GRCm39)	M1V	probably null	Het
Or5k17	A	G	16: 58,746,422 (GRCm39)	S171P	probably benign	Het
Or5p55	T	C	7: 107,567,104 (GRCm39)	S167P	probably benign	Het
Or6c202	T	C	10: 128,996,106 (GRCm39)	Y249C	probably damaging	Het
Or7g28	A	T	9: 19,272,438 (GRCm39)	I71N	probably damaging	Het
Or9g8	G	A	2: 85,607,668 (GRCm39)	V247M	probably damaging	Het
Pde4b	G	T	4: 102,458,741 (GRCm39)	A466S	probably damaging	Het
Pfkfb3	A	T	2: 11,491,162 (GRCm39)		probably benign	Het
Ppp1r21	A	G	17: 88,866,268 (GRCm39)	K355E	probably damaging	Het
Psme4	T	A	11: 30,741,095 (GRCm39)	Y90*	probably null	Het
Rbms1	G	A	2: 60,612,284 (GRCm39)	L161F	probably damaging	Het
Rdh16f2	A	G	10: 127,702,672 (GRCm39)	D83G	probably damaging	Het
Sec16b	C	T	1: 157,392,361 (GRCm39)	R910*	probably null	Het
Sema4c	CTGGGCTT	C	1: 36,591,381 (GRCm39)		probably null	Het
Spata31e5	T	C	1: 28,816,636 (GRCm39)	I465M	possibly damaging	Het
Stambp	A	G	6: 83,540,803 (GRCm39)		probably null	Het
Tcf21	T	C	10: 22,695,558 (GRCm39)	N82S	probably damaging	Het
Tlr2	A	T	3: 83,745,030 (GRCm39)	V351D	probably damaging	Het
Tmem39a	G	A	16: 38,411,326 (GRCm39)	G359D	probably damaging	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Vmn2r17	C	A	5: 109,577,342 (GRCm39)	F464L	probably benign	Het
Vmn2r49	T	A	7: 9,710,204 (GRCm39)	T843S	probably benign	Het
Vmn2r7	T	C	3: 64,598,088 (GRCm39)	D823G	probably null	Het
Wrnip1	T	A	13: 33,000,319 (GRCm39)	L442Q	probably damaging	Het
Zbtb38	G	T	9: 96,569,062 (GRCm39)	S674Y	probably damaging	Het
Zfp639	T	G	3: 32,574,585 (GRCm39)		probably null	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
R5101:Entpd3	UTSW	9	120,395,608 (GRCm39)	makesense	probably null
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'- TGGGCTTGTAAGGAACTCAG -3'
(R):5'- ATTCTCAGAGCGCTCCTTTG -3'

Sequencing Primer
(F):5'- GCTTGTAAGGAACTCAGTTTCTG -3'
(R):5'- GCTCCTTTGTCCTGAATGATGAAC -3'

Posted On

2016-06-15