Mutagenetix > Incidental Mutation

Incidental Mutation 'R9280:Entpd2'

703537

Institutional Source

Beutler Lab

Gene Symbol

Entpd2

Ensembl Gene

ENSMUSG00000015085

Gene Name

ectonucleoside triphosphate diphosphohydrolase 2

Synonyms

NTPDase2, Cd39l1

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9280 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25285886-25291333 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25289511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 331 (N331S)

Ref Sequence

ENSEMBL: ENSMUSP00000028328 (fasta)

Gene Model

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

AlphaFold

O55026

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028328
AA Change: N331S

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000028328
Gene: ENSMUSG00000015085
AA Change: N331S

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (63/63)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrbp	G	T	6: 125,039,938 (GRCm39)	V514L	probably damaging	Het
Actl11	A	G	9: 107,808,573 (GRCm39)	I965M	probably damaging	Het
Ank3	A	T	10: 69,818,021 (GRCm39)	S1468C	possibly damaging	Het
Aoc1l1	A	G	6: 48,955,116 (GRCm39)	D652G	possibly damaging	Het
Apobec3	A	C	15: 79,791,082 (GRCm39)	N392T		Het
Ccdc33	A	T	9: 57,965,549 (GRCm39)	M591K	probably benign	Het
Ccdc39	T	C	3: 33,870,153 (GRCm39)	E689G	probably damaging	Het
Cnot1	A	T	8: 96,497,227 (GRCm39)	M250K	probably benign	Het
Crppa	T	A	12: 36,571,975 (GRCm39)	S344R	probably benign	Het
Ctbs	A	T	3: 146,160,142 (GRCm39)	Y57F	probably damaging	Het
Dchs2	A	G	3: 83,189,255 (GRCm39)	I1540V	possibly damaging	Het
Dnah8	A	T	17: 31,004,071 (GRCm39)	Q3651H	possibly damaging	Het
Eif2a	A	G	3: 58,447,009 (GRCm39)		probably benign	Het
F830045P16Rik	G	A	2: 129,314,774 (GRCm39)	P168S	probably damaging	Het
Fam76b	A	T	9: 13,751,012 (GRCm39)	H302L	possibly damaging	Het
Fancm	A	G	12: 65,153,612 (GRCm39)	E1356G	probably benign	Het
Fat2	G	A	11: 55,201,523 (GRCm39)	T517I	probably benign	Het
Glul	T	C	1: 153,783,611 (GRCm39)	C269R	probably benign	Het
Gm3404	C	T	5: 146,462,756 (GRCm39)	H40Y	possibly damaging	Het
Grb7	T	C	11: 98,345,248 (GRCm39)	F435S	probably damaging	Het
Ide	A	T	19: 37,295,490 (GRCm39)	Y191N		Het
Ide	T	C	19: 37,307,801 (GRCm39)		probably benign	Het
Ighv6-3	T	A	12: 114,355,420 (GRCm39)	T90S	probably damaging	Het
Il23r	A	G	6: 67,429,410 (GRCm39)	C311R	probably damaging	Het
Ilf2	A	G	3: 90,394,922 (GRCm39)	E390G	unknown	Het
Ints1	C	T	5: 139,750,469 (GRCm39)	C896Y	probably damaging	Het
Ipcef1	T	C	10: 6,850,736 (GRCm39)	E289G	probably benign	Het
Kbtbd2	G	A	6: 56,755,997 (GRCm39)	R580W	probably damaging	Het
Kif21b	T	C	1: 136,099,445 (GRCm39)		probably null	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mmp27	A	T	9: 7,579,812 (GRCm39)	I429L	probably benign	Het
Mmp8	A	G	9: 7,567,292 (GRCm39)	D431G	possibly damaging	Het
Mpeg1	A	G	19: 12,439,828 (GRCm39)	T429A	probably benign	Het
Mterf1a	A	T	5: 3,941,539 (GRCm39)	Y110N	probably damaging	Het
Myh4	G	A	11: 67,146,135 (GRCm39)	A1398T	probably damaging	Het
Nr3c2	T	A	8: 77,635,973 (GRCm39)	M358K	probably benign	Het
Nup50l	A	C	6: 96,141,982 (GRCm39)	L354R	probably damaging	Het
Or5d14	A	T	2: 87,880,458 (GRCm39)	F170Y	probably damaging	Het
Or5g25	G	A	2: 85,478,504 (GRCm39)	R54*	probably null	Het
Or7e173	A	C	9: 19,938,639 (GRCm39)	S198R	probably benign	Het
Otof	A	G	5: 30,528,894 (GRCm39)	F1838S	probably damaging	Het
Pappa2	G	A	1: 158,675,533 (GRCm39)	T1071I	possibly damaging	Het
Pcdhb15	A	G	18: 37,607,794 (GRCm39)	D342G	probably damaging	Het
Pcdhgb7	T	C	18: 37,886,585 (GRCm39)	L585P	probably damaging	Het
Pde1c	A	T	6: 56,114,505 (GRCm39)	S469R	probably benign	Het
Pla2g6	A	G	15: 79,197,314 (GRCm39)	F87L	probably benign	Het
Rag2	A	T	2: 101,460,145 (GRCm39)	M152L	probably benign	Het
Rasa1	C	T	13: 85,436,732 (GRCm39)	A99T	unknown	Het
Rasgrp1	T	C	2: 117,113,132 (GRCm39)	N760S	probably benign	Het
Rgsl1	A	T	1: 153,669,898 (GRCm39)	M232K	probably benign	Het
Ryr1	G	A	7: 28,802,389 (GRCm39)	H744Y	probably damaging	Het
Slc1a4	A	G	11: 20,282,325 (GRCm39)	S50P	probably damaging	Het
Slc25a36	A	C	9: 96,982,233 (GRCm39)	L34R	probably damaging	Het
Slc39a12	A	T	2: 14,401,003 (GRCm39)	I127F	probably benign	Het
Slco1a8	A	G	6: 141,939,978 (GRCm39)	L175P	possibly damaging	Het
Sntb1	T	C	15: 55,769,771 (GRCm39)	T73A	probably benign	Het
Tbc1d14	T	C	5: 36,680,268 (GRCm39)		probably benign	Het
Tll2	T	A	19: 41,077,309 (GRCm39)	E819V	possibly damaging	Het
Trappc13	C	T	13: 104,290,809 (GRCm39)	A181T	probably benign	Het
Trbj1-1	A	G	6: 41,510,830 (GRCm39)	R11G		Het
Ubash3b	A	C	9: 41,072,877 (GRCm39)	I12S	unknown	Het
Usp37	T	C	1: 74,489,699 (GRCm39)	K828E	probably damaging	Het
Usp8	G	C	2: 126,561,944 (GRCm39)	S46T	unknown	Het
Zfp418	A	G	7: 7,184,408 (GRCm39)	T124A	possibly damaging	Het
Zfp87	T	C	13: 74,520,803 (GRCm39)	T92A	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
R1280:Entpd2	UTSW	2	25,289,496 (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
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'- GGGAACTCTATCTGTACTCTCAC -3'
(R):5'- CCCATCACTGTCTTCAGGAAG -3'

Sequencing Primer
(F):5'- AGGGCTACTCCACCCAAGTG -3'
(R):5'- CACTGTCTTCAGGAAGTCTACAG -3'

Posted On

2022-03-25