Mutagenetix > Incidental Mutation

Incidental Mutation 'R1280:Entpd2'

150991

Institutional Source

Beutler Lab

Gene Symbol

Entpd2

Ensembl Gene

ENSMUSG00000015085

Gene Name

ectonucleoside triphosphate diphosphohydrolase 2

Synonyms

NTPDase2, Cd39l1

MMRRC Submission

039346-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R1280 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25285886-25291333 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25289496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 326 (S326F)

Ref Sequence

ENSEMBL: ENSMUSP00000028328 (fasta)

Gene Model

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

AlphaFold

O55026

Predicted Effect

probably damaging
Transcript: ENSMUST00000028328
AA Change: S326F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028328
Gene: ENSMUSG00000015085
AA Change: S326F

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

noncoding transcript
Transcript: ENSMUST00000124277

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136138

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140590

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141106

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156824

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148859

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144413

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

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

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 92.1%

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 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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Atp5mc3	G	T	2: 73,739,714 (GRCm39)	T42K	possibly damaging	Het
Brd2	T	C	17: 34,333,124 (GRCm39)	M60V	possibly damaging	Het
Cabp1	T	C	5: 115,313,530 (GRCm39)	N226S	probably benign	Het
Cers6	G	A	2: 68,899,033 (GRCm39)	V224I	probably benign	Het
Fez1	GACAAACA	GACA	9: 36,781,845 (GRCm39)		probably null	Het
Gjb3	G	A	4: 127,220,224 (GRCm39)	R103W	probably damaging	Het
Klhdc7a	G	A	4: 139,692,764 (GRCm39)	R728C	probably benign	Het
Myo18b	A	G	5: 112,871,671 (GRCm39)		probably null	Het
Mzf1	A	T	7: 12,787,010 (GRCm39)	L20Q	probably damaging	Het
Neil1	T	C	9: 57,054,185 (GRCm39)	Y45C	probably damaging	Het
Or2ad1	C	T	13: 21,326,337 (GRCm39)	V297I	probably benign	Het
Rbm12	T	C	2: 155,938,749 (GRCm39)	K508E	probably damaging	Het
Socs4	A	T	14: 47,528,370 (GRCm39)	Q435L	probably benign	Het
Tdrd9	T	C	12: 112,005,842 (GRCm39)	V905A	probably damaging	Het
Tekt4	T	A	17: 25,690,861 (GRCm39)	W56R	probably damaging	Het
Ttn	A	T	2: 76,608,508 (GRCm39)	I16059N	possibly damaging	Het
Ubqln3	A	G	7: 103,791,283 (GRCm39)	V269A	possibly damaging	Het
Vps54	T	A	11: 21,227,868 (GRCm39)	I273N	possibly damaging	Het
Zfp831	A	G	2: 174,545,852 (GRCm39)	K1319R	probably benign	Het

Other mutations in Entpd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:Entpd2	APN	2	25,288,746 (GRCm39)	missense	probably benign
IGL02869:Entpd2	APN	2	25,288,120 (GRCm39)	missense	probably damaging	1.00
IGL03170:Entpd2	APN	2	25,289,493 (GRCm39)	missense	probably damaging	1.00
R2258:Entpd2	UTSW	2	25,288,099 (GRCm39)	missense	probably damaging	1.00
R2260:Entpd2	UTSW	2	25,288,099 (GRCm39)	missense	probably damaging	1.00
R2420:Entpd2	UTSW	2	25,289,295 (GRCm39)	missense	probably benign
R2566:Entpd2	UTSW	2	25,289,295 (GRCm39)	missense	probably benign	0.16
R4802:Entpd2	UTSW	2	25,289,776 (GRCm39)	splice site	probably null
R4938:Entpd2	UTSW	2	25,289,429 (GRCm39)	missense	probably benign	0.25
R5239:Entpd2	UTSW	2	25,290,830 (GRCm39)	missense	probably damaging	0.96
R5374:Entpd2	UTSW	2	25,289,738 (GRCm39)	missense	probably damaging	1.00
R5739:Entpd2	UTSW	2	25,289,504 (GRCm39)	missense	possibly damaging	0.90
R5752:Entpd2	UTSW	2	25,289,781 (GRCm39)	unclassified	probably benign
R5881:Entpd2	UTSW	2	25,290,824 (GRCm39)	missense	probably damaging	1.00
R6016:Entpd2	UTSW	2	25,288,568 (GRCm39)	missense	probably damaging	0.99
R6120:Entpd2	UTSW	2	25,289,478 (GRCm39)	missense	probably benign	0.03
R6370:Entpd2	UTSW	2	25,287,429 (GRCm39)	missense	probably damaging	1.00
R7301:Entpd2	UTSW	2	25,290,921 (GRCm39)	missense	possibly damaging	0.88
R8059:Entpd2	UTSW	2	25,288,096 (GRCm39)	missense	probably damaging	0.98
R8257:Entpd2	UTSW	2	25,288,133 (GRCm39)	missense	probably damaging	1.00
R8868:Entpd2	UTSW	2	25,289,725 (GRCm39)	missense	probably benign	0.01
R9259:Entpd2	UTSW	2	25,288,614 (GRCm39)	missense	probably damaging	1.00
R9280:Entpd2	UTSW	2	25,289,511 (GRCm39)	missense	possibly damaging	0.55
R9660:Entpd2	UTSW	2	25,288,153 (GRCm39)	missense	probably damaging	1.00
RF007:Entpd2	UTSW	2	25,290,907 (GRCm39)	frame shift	probably null
RF017:Entpd2	UTSW	2	25,290,907 (GRCm39)	frame shift	probably null
RF018:Entpd2	UTSW	2	25,290,907 (GRCm39)	frame shift	probably null
RF023:Entpd2	UTSW	2	25,290,907 (GRCm39)	frame shift	probably null
RF024:Entpd2	UTSW	2	25,290,907 (GRCm39)	frame shift	probably null
X0009:Entpd2	UTSW	2	25,288,691 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTTACGAACAGTTCATCAGGCTGC -3'
(R):5'- GGGGAAAGTGTCTTACCCAGATGTG -3'

Sequencing Primer
(F):5'- AGTGGGGAACTCTATCTGTACTC -3'
(R):5'- GTCTTACCCAGATGTGGAGAATATG -3'

Posted On

2014-01-29