Mutagenetix > Incidental Mutation

Incidental Mutation 'R1518:Entpd1'

167234

Institutional Source

Beutler Lab

Gene Symbol

Entpd1

Ensembl Gene

ENSMUSG00000048120

Gene Name

ectonucleoside triphosphate diphosphohydrolase 1

Synonyms

2610206B08Rik, ectoapyrase, NTPDase-1, Cd39

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1518 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40600810-40730046 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 40713507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 184 (Y184*)

Ref Sequence

ENSEMBL: ENSMUSP00000116349 (fasta)

Gene Model

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

AlphaFold

P55772

Predicted Effect

probably null
Transcript: ENSMUST00000112231
AA Change: Y184*

SMART Domains

Protein: ENSMUSP00000107850
Gene: ENSMUSG00000048120
AA Change: Y184*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000127268

SMART Domains

Protein: ENSMUSP00000116895
Gene: ENSMUSG00000048120

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 null
Transcript: ENSMUST00000134063
AA Change: Y213*

SMART Domains

Protein: ENSMUSP00000116285
Gene: ENSMUSG00000048120
AA Change: Y213*

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 null
Transcript: ENSMUST00000156598
AA Change: Y184*

SMART Domains

Protein: ENSMUSP00000116349
Gene: ENSMUSG00000048120
AA Change: Y184*

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

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 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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	A	9: 44,186,666 (GRCm39)	M493L	probably benign	Het
Abtb2	G	A	2: 103,539,629 (GRCm39)	V665I	probably benign	Het
Adamtsl1	C	G	4: 86,260,840 (GRCm39)	S1017W	probably damaging	Het
Aebp1	A	G	11: 5,821,469 (GRCm39)	T623A	possibly damaging	Het
Alox5	A	G	6: 116,390,741 (GRCm39)	F470S	probably damaging	Het
Angpt2	T	C	8: 18,755,855 (GRCm39)	E204G	probably benign	Het
Apip	A	G	2: 102,919,838 (GRCm39)	E138G	probably damaging	Het
Apob	C	T	12: 8,039,207 (GRCm39)	T466M	probably benign	Het
Atp2b3	GACAACA	GACA	X: 72,588,729 (GRCm39)		probably benign	Het
Atxn7l3	A	T	11: 102,185,340 (GRCm39)	D56E	probably benign	Het
Cacna1s	C	T	1: 136,026,289 (GRCm39)	A1092V	probably damaging	Het
Calr3	A	G	8: 73,181,044 (GRCm39)	F183L	probably damaging	Het
Cd300lb	T	A	11: 114,816,877 (GRCm39)	D55V	probably benign	Het
Chid1	A	C	7: 141,108,384 (GRCm39)	V145G	probably damaging	Het
Chst15	T	C	7: 131,871,855 (GRCm39)	N142S	probably damaging	Het
Cnot4	C	T	6: 35,028,389 (GRCm39)	R409Q	probably damaging	Het
Cope	T	G	8: 70,765,411 (GRCm39)	I287S	possibly damaging	Het
Cpd	A	T	11: 76,731,212 (GRCm39)		probably null	Het
Cux1	G	T	5: 136,337,133 (GRCm39)	T785K	probably benign	Het
Dennd2b	A	G	7: 109,156,562 (GRCm39)	S63P	probably damaging	Het
Dthd1	T	C	5: 62,979,383 (GRCm39)	S348P	probably damaging	Het
Eno3	G	T	11: 70,551,903 (GRCm39)	E64*	probably null	Het
Erv3	A	T	2: 131,698,083 (GRCm39)	M92K	probably benign	Het
Flg2	T	A	3: 93,110,445 (GRCm39)	H824Q	unknown	Het
Fndc9	G	A	11: 46,128,930 (GRCm39)	G150S	probably benign	Het
Gdap1	G	A	1: 17,217,169 (GRCm39)	V43I	possibly damaging	Het
Ifi213	C	A	1: 173,417,229 (GRCm39)	L394F	probably damaging	Het
Ift88	A	G	14: 57,668,085 (GRCm39)	T29A	possibly damaging	Het
Kdm4c	A	T	4: 74,252,063 (GRCm39)	I437L	probably benign	Het
Kras	T	A	6: 145,177,977 (GRCm39)	E98D	probably benign	Het
Lcorl	C	A	5: 45,891,543 (GRCm39)	R353I	possibly damaging	Het
Lrrc4c	A	G	2: 97,460,921 (GRCm39)	I516V	probably benign	Het
Lrrc51	T	C	7: 101,564,803 (GRCm39)	D85G	probably damaging	Het
Lypd6b	G	A	2: 49,837,504 (GRCm39)	A159T	probably damaging	Het
Magel2	G	A	7: 62,030,188 (GRCm39)	V1031I	unknown	Het
Man1c1	A	T	4: 134,308,100 (GRCm39)	N338K	probably benign	Het
Mdn1	C	A	4: 32,739,977 (GRCm39)	Q3744K	probably damaging	Het
Micu3	G	T	8: 40,788,893 (GRCm39)	A135S	possibly damaging	Het
Muc4	T	C	16: 32,569,167 (GRCm39)	S76P	possibly damaging	Het
Nin	T	G	12: 70,061,547 (GRCm39)	T2106P	probably benign	Het
Nlrp4e	T	C	7: 23,021,268 (GRCm39)	I585T	probably benign	Het
Npy1r	C	T	8: 67,156,847 (GRCm39)	A89V	probably benign	Het
Or11g27	T	C	14: 50,771,622 (GRCm39)	V251A	probably damaging	Het
Or4c115	G	A	2: 88,927,944 (GRCm39)	A109V	probably benign	Het
Or52ae7	T	A	7: 103,119,249 (GRCm39)	M1K	probably null	Het
Or52n3	T	A	7: 104,530,515 (GRCm39)	Y200*	probably null	Het
Or5w13	A	T	2: 87,523,872 (GRCm39)	M118K	probably damaging	Het
Parp14	T	G	16: 35,677,008 (GRCm39)	T987P	possibly damaging	Het
Pde7b	A	T	10: 20,423,867 (GRCm39)	V3E	probably damaging	Het
Pdlim7	G	T	13: 55,656,107 (GRCm39)	Y104*	probably null	Het
Pgm2l1	A	G	7: 99,910,932 (GRCm39)	K292R	probably benign	Het
Plec	T	C	15: 76,072,401 (GRCm39)	E728G	probably damaging	Het
Plppr4	T	C	3: 117,129,152 (GRCm39)	Y105C	probably damaging	Het
Polr1c	A	T	17: 46,558,821 (GRCm39)	N23K	possibly damaging	Het
Ppp5c	A	T	7: 16,743,861 (GRCm39)	M191K	probably damaging	Het
Prkca	T	C	11: 107,869,142 (GRCm39)	D57G	probably damaging	Het
Prkcb	A	G	7: 122,143,854 (GRCm39)		probably null	Het
Prl6a1	A	T	13: 27,502,911 (GRCm39)	Q169L	probably null	Het
Prl6a1	C	A	13: 27,502,910 (GRCm39)	Q169K	possibly damaging	Het
Psmd14	G	A	2: 61,591,335 (GRCm39)	R46H	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ramp2	A	G	11: 101,138,408 (GRCm39)	T22A	probably benign	Het
Rbm19	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	5: 120,278,345 (GRCm39)		probably benign	Het
Rbm25	A	T	12: 83,715,219 (GRCm39)	E463D	possibly damaging	Het
Retnlb	A	G	16: 48,637,678 (GRCm39)	I35V	probably benign	Het
Sestd1	A	G	2: 77,071,976 (GRCm39)	Y49H	probably damaging	Het
Setd2	T	A	9: 110,431,306 (GRCm39)	I2378N	probably damaging	Het
Slc26a1	A	T	5: 108,819,740 (GRCm39)	C486*	probably null	Het
Spef2	T	A	15: 9,667,316 (GRCm39)	I791F	probably damaging	Het
Sptb	T	C	12: 76,650,798 (GRCm39)	T1726A	possibly damaging	Het
Stk38l	T	A	6: 146,673,129 (GRCm39)	M296K	probably benign	Het
Taf5	T	C	19: 47,070,285 (GRCm39)	F624L	probably damaging	Het
Tmem30c	G	T	16: 57,086,855 (GRCm39)	T316K	probably damaging	Het
Trpm2	A	G	10: 77,778,839 (GRCm39)	S376P	possibly damaging	Het
Vmn2r82	A	T	10: 79,214,702 (GRCm39)	L228F	probably damaging	Het
Zfp607b	G	A	7: 27,398,087 (GRCm39)	C57Y	possibly damaging	Het
Zfp983	A	G	17: 21,881,269 (GRCm39)	H399R	probably damaging	Het
Zfp984	A	T	4: 147,840,002 (GRCm39)	M283K	probably benign	Het

Other mutations in Entpd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00960:Entpd1	APN	19	40,699,714 (GRCm39)	missense	probably benign	0.21
IGL02624:Entpd1	APN	19	40,714,502 (GRCm39)	nonsense	probably null
IGL02893:Entpd1	APN	19	40,715,961 (GRCm39)	missense	probably damaging	0.99
R0413:Entpd1	UTSW	19	40,699,729 (GRCm39)	missense	probably benign
R0626:Entpd1	UTSW	19	40,715,769 (GRCm39)	missense	probably benign	0.36
R0666:Entpd1	UTSW	19	40,648,350 (GRCm39)	splice site	probably benign
R1460:Entpd1	UTSW	19	40,714,632 (GRCm39)	missense	probably damaging	1.00
R1710:Entpd1	UTSW	19	40,714,680 (GRCm39)	missense	probably benign	0.00
R1757:Entpd1	UTSW	19	40,727,450 (GRCm39)	missense	probably benign	0.01
R1759:Entpd1	UTSW	19	40,600,968 (GRCm39)	critical splice donor site	probably null
R2143:Entpd1	UTSW	19	40,725,227 (GRCm39)	missense	probably damaging	1.00
R3876:Entpd1	UTSW	19	40,725,264 (GRCm39)	missense	probably damaging	1.00
R4937:Entpd1	UTSW	19	40,727,965 (GRCm39)	unclassified	probably benign
R5082:Entpd1	UTSW	19	40,713,473 (GRCm39)	splice site	probably null
R5764:Entpd1	UTSW	19	40,727,417 (GRCm39)	splice site	probably null
R5906:Entpd1	UTSW	19	40,727,283 (GRCm39)	missense	probably damaging	1.00
R6052:Entpd1	UTSW	19	40,708,928 (GRCm39)	missense	probably damaging	1.00
R7154:Entpd1	UTSW	19	40,713,430 (GRCm39)	missense	probably damaging	0.99
R7408:Entpd1	UTSW	19	40,727,309 (GRCm39)	missense	possibly damaging	0.50
R7814:Entpd1	UTSW	19	40,715,891 (GRCm39)	missense	probably damaging	1.00
R7976:Entpd1	UTSW	19	40,600,865 (GRCm39)	start codon destroyed	probably null	0.00
R8438:Entpd1	UTSW	19	40,725,224 (GRCm39)	missense	possibly damaging	0.67
R8951:Entpd1	UTSW	19	40,727,319 (GRCm39)	missense	probably damaging	1.00
R9126:Entpd1	UTSW	19	40,714,608 (GRCm39)	missense	possibly damaging	0.76
R9798:Entpd1	UTSW	19	40,715,789 (GRCm39)	missense	possibly damaging	0.81
W0251:Entpd1	UTSW	19	40,714,697 (GRCm39)	missense	probably damaging	0.96
Z1176:Entpd1	UTSW	19	40,727,408 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GGACTTGCACTTGGAAAGACGGAAC -3'
(R):5'- TGTCTCCCTGAGATGAAGACATGGC -3'

Sequencing Primer
(F):5'- CAGGGcaaacaaacaaacaaac -3'
(R):5'- AGGTAAATATTCCTCTAGCGATGGC -3'

Posted On

2014-04-13