Mutagenetix > Incidental Mutation

Incidental Mutation 'RF017:Entpd2'

603604

Institutional Source

Beutler Lab

Gene Symbol

Entpd2

Ensembl Gene

ENSMUSG00000015085

Gene Name

ectonucleoside triphosphate diphosphohydrolase 2

Synonyms

Cd39l1, NTPDase2

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

RF017 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

25395874-25401321 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

CTT to CTTT at 25400895 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028328 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028328] [ENSMUST00000055921] [ENSMUST00000071442] [ENSMUST00000141567] [ENSMUST00000154809]

AlphaFold

O55026

Predicted Effect

probably null
Transcript: ENSMUST00000028328

SMART Domains

Protein: ENSMUSP00000028328
Gene: ENSMUSG00000015085

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:GDA1_CD39	32	459	9.7e-104	PFAM
low complexity region	465	483	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000055921

SMART Domains

Protein: ENSMUSP00000049602
Gene: ENSMUSG00000015094

Domain	Start	End	E-Value	Type
Pfam:NPDC1	1	341	9.1e-234	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000071442

SMART Domains

Protein: ENSMUSP00000071387
Gene: ENSMUSG00000015094

Domain	Start	End	E-Value	Type
Pfam:NPDC1	1	332	7.2e-217	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141567

SMART Domains

Protein: ENSMUSP00000116275
Gene: ENSMUSG00000015094

Domain	Start	End	E-Value	Type
Pfam:NPDC1	1	231	7.8e-141	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154809

SMART Domains

Protein: ENSMUSP00000123386
Gene: ENSMUSG00000015094

Domain	Start	End	E-Value	Type
Pfam:NPDC1	1	142	1.8e-88	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

Validation Efficiency

100% (29/29)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the type 2 enzyme of the ecto-nucleoside triphosphate diphosphohydrolase family (E-NTPDase). E-NTPDases are a family of ecto-nucleosidases that hydrolyze 5'-triphosphates. This ecto-ATPase is an integral membrane protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display smaller circumvallate papilla size and reduced neural responses to taste stimuli. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	AA	AACTGTCA	10: 82,290,992		probably benign	Het
Ahdc1	ACCACC	ACCACCACC	4: 133,062,751		probably benign	Het
Ankhd1	GGCGGC	GGCGGCCGCGGC	18: 36,560,909		probably benign	Het
Anks1b	G	A	10: 90,033,225	G49D	probably damaging	Het
AY358078	T	TAGGATAATGA	14: 51,805,593		probably null	Het
Ccdc170	CCA	CCAGCA	10: 4,561,024		probably benign	Het
Cntrl	C	A	2: 35,175,189	D2168E	probably damaging	Het
Dab1	C	A	4: 104,713,652	R195S	probably benign	Het
Dnmt1	AGCACAGTTCCTACCTCGTT	AGCACAGTTCCTACCTCGTTTTGGGGGCGGCGCACAGTTCCTACCTCGTT	9: 20,910,126		probably null	Het
Elp6	A	T	9: 110,319,709	H222L	probably damaging	Het
Fam71e1	GTCTGAGGGAGGA	GTCTGAGGGAGGAAGGCTGGATCCTGGATACCTGGATCTGAGGGAGGA	7: 44,500,525		probably null	Het
Fam71e1	GGGAGGA	GGGAGGAAGGCTGGATCCTGGATACCTGGGTCTGATGGAGGA	7: 44,500,531		probably null	Het
Fgf22	A	G	10: 79,756,846	H125R	probably benign	Het
Galnt18	G	A	7: 111,599,014	R180C	probably damaging	Het
Gm4969	T	C	7: 19,102,429	N291S	unknown	Het
Gm8369	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	19: 11,511,742		probably null	Het
Gpsm1	C	A	2: 26,324,872	H288Q	probably damaging	Het
Ipo7	A	G	7: 110,048,794	I628V	probably benign	Het
Itpkb	C	T	1: 180,333,322	R338W	probably damaging	Het
Krtap28-10	CACAGC	CACAGCAACAGC	1: 83,042,138		probably benign	Het
Krtap28-10	CCACCACAGCCACAG	CCACCACAGCCACAGTCACCACAGCCACAG	1: 83,042,266		probably benign	Het
Krtap4-2	CAGCAGGGGCGGCA	C	11: 99,634,717		probably null	Het
Krtap4-9	TGCTGTGTGTCCAGCTGCTGCAG	TGCTGTGTGTCCAGCTGCTGCAGGCCCAGCGGCTGTGTGTCCAGCTGCTGCAG	11: 99,785,399		probably benign	Het
Larp4b	G	T	13: 9,123,910	G30V	probably benign	Het
Lrmp	GCACATTG	GCACATTGATCACATTG	6: 145,173,784		probably benign	Het
Map1a	CTCCAGCTCCA	CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGGTCCAGCTCCA	2: 121,306,308		probably benign	Het
Mccc2	A	C	13: 100,000,288	V53G	probably damaging	Het
Mug1	T	A	6: 121,884,574	Y1332N	probably damaging	Het
Ndnf	A	G	6: 65,704,329	T531A	probably damaging	Het
Ntsr2	T	G	12: 16,659,765	V349G	probably damaging	Het
Olfr117	A	T	17: 37,659,781	I184N	probably damaging	Het
P2ry14	A	T	3: 59,115,046	I331N	probably benign	Het
Pcdha11	T	C	18: 37,005,524	S69P	possibly damaging	Het
Ptp4a2	A	G	4: 129,839,444		probably benign	Het
Ptpn13	A	G	5: 103,593,580	D2353G	probably benign	Het
Rasa2	GCC	GCCCCC	9: 96,631,468		probably benign	Het
Raver2	A	T	4: 101,102,998	D225V	probably damaging	Het
Rph3a	A	T	5: 120,962,499		probably null	Het
Sin3a	T	A	9: 57,127,326	V1261E	possibly damaging	Het
Slc12a9	T	A	5: 137,325,550	I368F	probably damaging	Het
Spaca1	CTCGC	CTCGCTGTCGC	4: 34,049,853		probably benign	Het
Strn	C	CCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTG	17: 78,677,288		probably null	Het
Tmem28	GCCGCC	GCCGCCACCGCC	X: 99,821,365		probably benign	Het
Ush2a	A	C	1: 188,263,469	T146P	probably damaging	Het
Usp37	A	G	1: 74,470,690	L440P	probably damaging	Het
Wdr66	AAGAGGAGGAAGAGGAGGGGGAGAAGGAG	AAGAGGAGGAAGAGGAGGGGGAGAAGGAGGAAAAGGAGAAAGAGGAGGAAGAGGAGGGGGAGAAGGAG	5: 123,253,890		probably benign	Het
Xpnpep1	T	A	19: 53,032,060	I24L	probably benign	Het

Other mutations in Entpd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:Entpd2	APN	2	25398734	missense	probably benign
IGL02869:Entpd2	APN	2	25398108	missense	probably damaging	1.00
IGL03170:Entpd2	APN	2	25399481	missense	probably damaging	1.00
R1280:Entpd2	UTSW	2	25399484	missense	probably damaging	1.00
R2258:Entpd2	UTSW	2	25398087	missense	probably damaging	1.00
R2260:Entpd2	UTSW	2	25398087	missense	probably damaging	1.00
R2420:Entpd2	UTSW	2	25399283	missense	probably benign
R2566:Entpd2	UTSW	2	25399283	missense	probably benign	0.16
R4802:Entpd2	UTSW	2	25399764	splice site	probably null
R4938:Entpd2	UTSW	2	25399417	missense	probably benign	0.25
R5239:Entpd2	UTSW	2	25400818	missense	probably damaging	0.96
R5374:Entpd2	UTSW	2	25399726	missense	probably damaging	1.00
R5739:Entpd2	UTSW	2	25399492	missense	possibly damaging	0.90
R5752:Entpd2	UTSW	2	25399769	unclassified	probably benign
R5881:Entpd2	UTSW	2	25400812	missense	probably damaging	1.00
R6016:Entpd2	UTSW	2	25398556	missense	probably damaging	0.99
R6120:Entpd2	UTSW	2	25399466	missense	probably benign	0.03
R6370:Entpd2	UTSW	2	25397417	missense	probably damaging	1.00
R7301:Entpd2	UTSW	2	25400909	missense	possibly damaging	0.88
R8059:Entpd2	UTSW	2	25398084	missense	probably damaging	0.98
R8257:Entpd2	UTSW	2	25398121	missense	probably damaging	1.00
R8868:Entpd2	UTSW	2	25399713	missense	probably benign	0.01
R9259:Entpd2	UTSW	2	25398602	missense	probably damaging	1.00
R9280:Entpd2	UTSW	2	25399499	missense	possibly damaging	0.55
R9660:Entpd2	UTSW	2	25398141	missense	probably damaging	1.00
RF007:Entpd2	UTSW	2	25400895	frame shift	probably null
RF018:Entpd2	UTSW	2	25400895	frame shift	probably null
RF023:Entpd2	UTSW	2	25400895	frame shift	probably null
RF024:Entpd2	UTSW	2	25400895	frame shift	probably null
X0009:Entpd2	UTSW	2	25398679	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCGTGGAGTGGTCTTCGAAAAG -3'
(R):5'- TGCCCATGTAGACTTTCTGTGAG -3'

Sequencing Primer
(F):5'- GCGGGGTCAGGAGGATTC -3'
(R):5'- CTGTGAGTGTAGATAAGGACCGTCC -3'

Posted On

2019-12-04