Mutagenetix > Incidental Mutations

Incidental Mutation 'R1710:Entpd1'

190504

Institutional Source

Beutler Lab

Gene Symbol

Entpd1

Ensembl Gene

ENSMUSG00000048120

Gene Name

ectonucleoside triphosphate diphosphohydrolase 1

Synonyms

2610206B08Rik, Cd39, ectoapyrase, NTPDase-1

MMRRC Submission

039743-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1710 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40612366-40741602 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 40726236 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 263 (Q263L)

Ref Sequence

ENSEMBL: ENSMUSP00000107850 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112231] [ENSMUST00000127828] [ENSMUST00000134063] [ENSMUST00000156598]

Predicted Effect

probably benign
Transcript: ENSMUST00000112231
AA Change: Q263L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000107850
Gene: ENSMUSG00000048120
AA Change: Q263L

Domain	Start	End	E-Value	Type
Pfam:GDA1_CD39	40	471	7.8e-160	PFAM
transmembrane domain	477	499	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000127268
AA Change: Q62L

SMART Domains

Protein: ENSMUSP00000116895
Gene: ENSMUSG00000048120
AA Change: Q62L

Domain	Start	End	E-Value	Type
Pfam:GDA1_CD39	1	217	4.6e-72	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127828

SMART Domains

Protein: ENSMUSP00000117213
Gene: ENSMUSG00000048120

Domain	Start	End	E-Value	Type
Pfam:GDA1_CD39	1	63	1.2e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134063
AA Change: Q292L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000116285
Gene: ENSMUSG00000048120
AA Change: Q292L

Domain	Start	End	E-Value	Type
Pfam:GDA1_CD39	69	500	6.9e-170	PFAM
transmembrane domain	506	528	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137508

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144080

Predicted Effect

probably benign
Transcript: ENSMUST00000156598
AA Change: Q263L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000116349
Gene: ENSMUSG00000048120
AA Change: Q263L

Domain	Start	End	E-Value	Type
Pfam:GDA1_CD39	40	281	6.1e-101	PFAM

Meta Mutation Damage Score

0.0939

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

98% (117/120)

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 a plasma membrane protein that hydrolyzes extracellular ATP and ADP to AMP. Inhibition of this protein's activity may confer anticancer benefits. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in muscle contraction, synaptic transmitter release and blood coagulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	A	T	18: 70,468,063	S249R	possibly damaging	Het
9130409I23Rik	A	G	1: 181,051,319	M1V	probably null	Het
Acadvl	T	A	11: 70,010,355	I638F	probably damaging	Het
Acnat2	T	A	4: 49,380,587	T264S	probably benign	Het
Acrv1	C	T	9: 36,694,255	Q33*	probably null	Het
Actrt3	T	A	3: 30,599,752	N33I	probably damaging	Het
Alyref2	T	C	1: 171,503,600		probably benign	Het
Ank2	C	A	3: 126,933,060	E3712*	probably null	Het
Ano7	C	A	1: 93,385,624	H161Q	probably benign	Het
Arhgap10	C	A	8: 77,358,587	E451*	probably null	Het
Arhgap29	T	A	3: 122,008,080	Y748N	probably damaging	Het
Arhgap45	C	T	10: 80,018,098	Q149*	probably null	Het
Asap2	C	T	12: 21,224,392	H371Y	probably damaging	Het
Atp6v1b1	T	C	6: 83,758,390	I480T	probably benign	Het
BC034090	T	C	1: 155,225,864	D218G	possibly damaging	Het
Brdt	A	T	5: 107,343,584	D74V	probably damaging	Het
C4b	A	G	17: 34,743,664		probably benign	Het
Card11	T	A	5: 140,902,905	K233*	probably null	Het
Catip	T	G	1: 74,362,770	F35V	possibly damaging	Het
Ccdc13	C	T	9: 121,819,581	G247R	probably damaging	Het
Cep97	T	A	16: 55,915,022	D471V	probably damaging	Het
Col17a1	A	T	19: 47,670,931	L403Q	probably damaging	Het
Crbn	A	G	6: 106,790,945	S194P	possibly damaging	Het
Dhx58	T	A	11: 100,703,574	H97L	probably benign	Het
Dnah8	T	C	17: 30,854,940	I4528T	probably damaging	Het
Dpyd	A	G	3: 118,610,443		probably null	Het
Esyt3	T	C	9: 99,336,191	I130M	probably benign	Het
Etv1	T	C	12: 38,852,262	F264S	probably benign	Het
Fam189a2	A	T	19: 23,979,695	I317N	probably damaging	Het
Fam196b	T	A	11: 34,404,263		probably null	Het
Fam45a	A	G	19: 60,817,583	Y102C	probably damaging	Het
Fat1	T	C	8: 45,010,482	S1354P	probably benign	Het
Fat4	C	A	3: 38,951,155	T1901N	probably damaging	Het
Fbxw13	C	T	9: 109,181,518	V351I	probably damaging	Het
Fmo3	A	G	1: 162,967,787	F160L	possibly damaging	Het
Fyb2	T	A	4: 105,003,916	D592E	probably damaging	Het
Gjb4	T	C	4: 127,351,870	M93V	possibly damaging	Het
Gm5089	C	A	14: 122,436,154	G52*	probably null	Het
Gm6401	G	T	14: 41,966,883	N76K	probably benign	Het
Gm6871	A	G	7: 41,546,477	S279P	probably damaging	Het
Gtf2ird2	T	G	5: 134,211,240	V301G	probably benign	Het
H2bfm	A	C	X: 136,927,467	D35A	unknown	Het
Hfm1	A	G	5: 106,880,514	F817L	probably damaging	Het
Hfm1	T	C	5: 106,896,003	E589G	probably damaging	Het
Hivep2	A	T	10: 14,129,505	K616*	probably null	Het
Hmcn1	A	T	1: 150,675,984	I2623N	probably damaging	Het
Igf2bp3	G	T	6: 49,105,631	A339E	probably damaging	Het
Irx4	T	C	13: 73,267,638	I182T	possibly damaging	Het
Jcad	T	C	18: 4,674,511	S758P	probably damaging	Het
Klhdc4	A	T	8: 121,799,487	Y304*	probably null	Het
Lama1	A	G	17: 67,753,791	I705V	probably benign	Het
Mbd5	A	G	2: 49,257,032	N418S	probably benign	Het
Mmp21	C	T	7: 133,677,285	V279I	probably damaging	Het
Morc4	A	C	X: 139,854,530	C272W	probably damaging	Het
Mrm1	A	T	11: 84,818,692	C180S	probably damaging	Het
Ncor1	T	C	11: 62,423,005	D103G	probably damaging	Het
Ndrg4	A	G	8: 95,710,686	D251G	probably damaging	Het
Ndufaf5	T	C	2: 140,193,602	V246A	possibly damaging	Het
Noa1	T	C	5: 77,309,725	E111G	possibly damaging	Het
Nod1	C	A	6: 54,944,059	V425F	probably damaging	Het
Nos1	A	T	5: 117,895,919	I369F	probably damaging	Het
Nsun5	C	T	5: 135,371,316	H98Y	probably damaging	Het
Olfr1013	C	T	2: 85,769,855	T18I	probably benign	Het
Olfr172	A	G	16: 58,761,141	F12L	probably benign	Het
Olfr292	G	A	7: 86,695,110	R218H	probably benign	Het
Olfr726	C	G	14: 50,084,370	V104L	probably benign	Het
Olfr933	A	G	9: 38,975,906	I77V	probably damaging	Het
Olfr945	T	C	9: 39,258,571	I37V	probably benign	Het
Optn	G	A	2: 5,053,130	T76I	possibly damaging	Het
Oscar	C	T	7: 3,611,856	W22*	probably null	Het
Palmd	T	A	3: 116,923,657	Y397F	probably damaging	Het
Plk1	A	G	7: 122,168,898	D447G	probably damaging	Het
Plscr5	T	A	9: 92,205,528	N183K	probably damaging	Het
Polk	T	G	13: 96,489,204	D364A	probably damaging	Het
Polr3d	T	C	14: 70,443,010	T36A	probably benign	Het
Ppp1r10	A	T	17: 35,926,536	R199S	probably damaging	Het
Prkcz	C	T	4: 155,262,512	D388N	probably damaging	Het
Prrc2b	T	C	2: 32,212,222	L769P	probably damaging	Het
Psg26	A	G	7: 18,480,041	V232A	probably damaging	Het
Pth2r	T	C	1: 65,336,838	V85A	possibly damaging	Het
Rbpms2	T	C	9: 65,659,212		probably benign	Het
Reps1	A	T	10: 18,118,950	D514V	possibly damaging	Het
Riok3	G	T	18: 12,142,961	R238L	probably benign	Het
Rnf19a	T	C	15: 36,244,207	Q569R	probably damaging	Het
Rorb	G	A	19: 18,960,501	T267I	probably damaging	Het
Rrm2b	A	T	15: 37,929,096	M70K	probably damaging	Het
Rsf1	A	T	7: 97,662,349	E762V	possibly damaging	Het
S100a2	G	A	3: 90,591,392	V67I	probably benign	Het
Skp1a	T	A	11: 52,242,615	D42E	probably benign	Het
Slc22a4	A	T	11: 54,027,975	M1K	probably null	Het
Slc2a9	T	A	5: 38,382,044	Q371L	probably damaging	Het
Slc4a9	A	G	18: 36,532,022	T475A	probably benign	Het
Slc8b1	A	G	5: 120,519,652	N60S	probably damaging	Het
Slx4	A	C	16: 3,999,158	D66E	probably benign	Het
Smg8	A	T	11: 87,086,287	I156N	probably damaging	Het
Snx25	A	T	8: 46,116,207	C218S	possibly damaging	Het
Sulf2	T	C	2: 166,079,072	I784V	probably benign	Het
Tatdn2	G	T	6: 113,697,927	R72L	possibly damaging	Het
Tbc1d8	T	C	1: 39,406,837	D91G	possibly damaging	Het
Tifab	C	A	13: 56,176,620	R3S	probably benign	Het
Tm4sf1	A	T	3: 57,292,883	S104T	probably damaging	Het
Tmem132e	T	A	11: 82,443,517	I618N	probably damaging	Het
Ttc7b	A	T	12: 100,403,408	D367E	probably damaging	Het
Txlnb	A	G	10: 17,843,455	D678G	possibly damaging	Het
Vgll4	A	G	6: 114,957,934		probably null	Het
Vmn2r124	A	T	17: 18,061,925		probably benign	Het
Vmn2r2	T	C	3: 64,117,399	D587G	probably benign	Het
Vmn2r84	G	A	10: 130,391,099	A290V	probably benign	Het
Vps13c	T	A	9: 67,911,529	S1077R	probably benign	Het
Vsig10	C	T	5: 117,351,654	A495V	probably benign	Het
Vwa3a	A	T	7: 120,804,031		probably null	Het
Zfhx2	C	A	14: 55,065,998	A1510S	possibly damaging	Het
Zfp142	T	A	1: 74,572,230	D601V	probably damaging	Het
Zfp62	T	C	11: 49,217,683	I867T	probably benign	Het

Other mutations in Entpd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00960:Entpd1	APN	19	40711270	missense	probably benign	0.21
IGL02624:Entpd1	APN	19	40726058	nonsense	probably null
IGL02893:Entpd1	APN	19	40727517	missense	probably damaging	0.99
R0413:Entpd1	UTSW	19	40711285	missense	probably benign
R0626:Entpd1	UTSW	19	40727325	missense	probably benign	0.36
R0666:Entpd1	UTSW	19	40659906	splice site	probably benign
R1460:Entpd1	UTSW	19	40726188	missense	probably damaging	1.00
R1518:Entpd1	UTSW	19	40725063	nonsense	probably null
R1757:Entpd1	UTSW	19	40739006	missense	probably benign	0.01
R1759:Entpd1	UTSW	19	40612524	critical splice donor site	probably null
R2143:Entpd1	UTSW	19	40736783	missense	probably damaging	1.00
R3876:Entpd1	UTSW	19	40736820	missense	probably damaging	1.00
R4937:Entpd1	UTSW	19	40739521	unclassified	probably benign
R5082:Entpd1	UTSW	19	40725029	splice site	probably null
R5764:Entpd1	UTSW	19	40738973	splice site	probably null
R5906:Entpd1	UTSW	19	40738839	missense	probably damaging	1.00
R6052:Entpd1	UTSW	19	40720484	missense	probably damaging	1.00
R7154:Entpd1	UTSW	19	40724986	missense	probably damaging	0.99
R7408:Entpd1	UTSW	19	40738865	missense	possibly damaging	0.50
R7814:Entpd1	UTSW	19	40727447	missense	probably damaging	1.00
R7976:Entpd1	UTSW	19	40612421	start codon destroyed	probably null	0.00
R8438:Entpd1	UTSW	19	40736780	missense	possibly damaging	0.67
W0251:Entpd1	UTSW	19	40726253	missense	probably damaging	0.96
Z1176:Entpd1	UTSW	19	40738964	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GACTTTGAGCAACTCTCTGTCCCTG -3'
(R):5'- ACATAAATGGTCACGGCTTCCCC -3'

Sequencing Primer
(F):5'- GATGTCCAGAGACTTCTAGCACTG -3'
(R):5'- GTGTCCTTGGAGATAGTACAGTAAAC -3'

Posted On

2014-05-14