Mutagenetix > Incidental Mutation

Incidental Mutation 'R7976:Entpd1'

650942

Institutional Source

Beutler Lab

Gene Symbol

Entpd1

Ensembl Gene

ENSMUSG00000048120

Gene Name

ectonucleoside triphosphate diphosphohydrolase 1

Synonyms

2610206B08Rik, ectoapyrase, NTPDase-1, Cd39

MMRRC Submission

046019-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7976 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40600810-40730046 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to G at 40600865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1 (M1V)

Ref Sequence

ENSEMBL: ENSMUSP00000116285 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025981] [ENSMUST00000132452] [ENSMUST00000134063] [ENSMUST00000135795]

AlphaFold

P55772

Predicted Effect

probably benign
Transcript: ENSMUST00000025981

SMART Domains

Protein: ENSMUSP00000025981
Gene: ENSMUSG00000025008

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:DUF1619	78	379	6.3e-83	PFAM
low complexity region	578	590	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132452

SMART Domains

Protein: ENSMUSP00000121760
Gene: ENSMUSG00000025008

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:DUF1619	78	364	3e-74	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000134063
AA Change: M1V

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

SMART Domains

Protein: ENSMUSP00000116285
Gene: ENSMUSG00000048120
AA Change: M1V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000135795

SMART Domains

Protein: ENSMUSP00000123461
Gene: ENSMUSG00000025008

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:DUF1619	78	379	2.5e-82	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adss1	A	C	12: 112,602,831 (GRCm39)	I341L	probably benign	Het
Aldh1b1	T	A	4: 45,803,092 (GRCm39)	M210K	possibly damaging	Het
Ankrd17	G	A	5: 90,431,451 (GRCm39)	Q778*	probably null	Het
Bmper	T	C	9: 23,318,106 (GRCm39)	V575A	probably damaging	Het
Brinp2	A	G	1: 158,073,913 (GRCm39)	V736A	probably benign	Het
Ccdc81	A	T	7: 89,515,723 (GRCm39)	L652*	probably null	Het
Cdt1	C	T	8: 123,298,585 (GRCm39)	R437W	probably damaging	Het
Ckb	A	C	12: 111,637,466 (GRCm39)	L165R	possibly damaging	Het
Col25a1	G	T	3: 130,290,075 (GRCm39)	G255V	probably damaging	Het
Ddx17	A	G	15: 79,420,156 (GRCm39)		probably null	Het
Dennd4a	G	T	9: 64,759,794 (GRCm39)	G300W	possibly damaging	Het
Dlg4	T	A	11: 69,930,008 (GRCm39)	I316N	probably damaging	Het
Dlgap2	C	T	8: 14,793,410 (GRCm39)	P467L	probably benign	Het
Dnah9	T	C	11: 65,732,227 (GRCm39)	I4226M	possibly damaging	Het
Drc1	G	A	5: 30,521,829 (GRCm39)	A734T	probably benign	Het
Exph5	T	G	9: 53,287,935 (GRCm39)	I1672S	possibly damaging	Het
Fam149b	T	A	14: 20,427,852 (GRCm39)	D379E	probably damaging	Het
Fgfr2	T	C	7: 129,787,074 (GRCm39)	T461A	probably damaging	Het
Frem1	A	G	4: 82,919,946 (GRCm39)	V469A	probably damaging	Het
Frem3	A	T	8: 81,338,231 (GRCm39)	K175*	probably null	Het
Fsd2	C	T	7: 81,209,629 (GRCm39)	G71E	probably benign	Het
Gcat	T	C	15: 78,919,188 (GRCm39)	I116T	probably damaging	Het
Gigyf2	G	A	1: 87,331,458 (GRCm39)	S202N	unknown	Het
Glra3	T	G	8: 56,565,911 (GRCm39)		probably null	Het
Golga4	C	T	9: 118,365,836 (GRCm39)	T296I	possibly damaging	Het
Herc1	C	T	9: 66,341,552 (GRCm39)	T1816I	possibly damaging	Het
Igfbpl1	C	A	4: 45,826,786 (GRCm39)	R3L	unknown	Het
Ighv15-2	A	T	12: 114,528,470 (GRCm39)	S28T	probably benign	Het
Kat2b	T	A	17: 53,955,835 (GRCm39)	M427K	probably benign	Het
Kdm4c	A	G	4: 74,295,906 (GRCm39)	T882A	probably damaging	Het
Kif1a	G	T	1: 92,967,496 (GRCm39)	F1138L	probably damaging	Het
Klhl20	A	T	1: 160,934,307 (GRCm39)	S237R	probably benign	Het
Lamc1	A	T	1: 153,123,014 (GRCm39)	N725K	probably damaging	Het
Lmtk3	A	G	7: 45,444,890 (GRCm39)	D1191G	unknown	Het
Ltbp1	C	A	17: 75,670,358 (GRCm39)	N1466K	possibly damaging	Het
Ly75	T	C	2: 60,195,432 (GRCm39)	E242G	probably damaging	Het
Lyrm1	T	C	7: 119,515,449 (GRCm39)	V113A	probably benign	Het
Mfsd13a	G	T	19: 46,360,446 (GRCm39)	A333S	probably benign	Het
Mllt10	T	C	2: 18,167,214 (GRCm39)	S380P	possibly damaging	Het
Mrc2	A	G	11: 105,238,829 (GRCm39)	K1295E	possibly damaging	Het
Muc5ac	A	T	7: 141,363,528 (GRCm39)	I2280F	unknown	Het
Neurod2	A	C	11: 98,218,023 (GRCm39)	F380L	probably damaging	Het
Ntrk3	G	A	7: 78,005,954 (GRCm39)	A469V	probably damaging	Het
Nup205	T	C	6: 35,175,888 (GRCm39)	F584L	probably damaging	Het
Oas1d	A	T	5: 121,057,210 (GRCm39)	Y272F	probably damaging	Het
Olfm3	T	C	3: 114,874,794 (GRCm39)	V30A	probably benign	Het
Or4c110	T	A	2: 88,831,973 (GRCm39)	I220F	probably damaging	Het
Or5b117	A	G	19: 13,431,563 (GRCm39)	I106T	probably benign	Het
Or8k22	A	G	2: 86,163,064 (GRCm39)	V212A	probably benign	Het
Pcdhga12	A	G	18: 37,901,427 (GRCm39)	Y753C	probably damaging	Het
Phox2b	A	G	5: 67,253,514 (GRCm39)	V294A	unknown	Het
Prdm2	A	T	4: 142,859,812 (GRCm39)	C1159*	probably null	Het
Ptpn12	G	T	5: 21,207,631 (GRCm39)	S275*	probably null	Het
Rigi	T	C	4: 40,209,894 (GRCm39)	M725V	probably damaging	Het
Rnf223	A	T	4: 156,216,776 (GRCm39)	E50D	probably damaging	Het
Rrp12	A	T	19: 41,879,548 (GRCm39)	Y169N	probably benign	Het
Sgip1	T	C	4: 102,757,736 (GRCm39)		probably null	Het
Shank2	T	C	7: 143,964,798 (GRCm39)	I802T	probably damaging	Het
Skint2	A	T	4: 112,481,329 (GRCm39)	N64I	probably damaging	Het
Smpd3	A	C	8: 106,982,254 (GRCm39)	C617G	probably benign	Het
Tmem106c	G	C	15: 97,865,985 (GRCm39)	G192R	probably damaging	Het
Tmem72	T	C	6: 116,673,800 (GRCm39)	H106R	probably damaging	Het
Upf2	G	C	2: 6,030,926 (GRCm39)	V789L	unknown	Het
Vash1	A	G	12: 86,726,758 (GRCm39)		probably benign	Het
Vmn1r201	T	A	13: 22,658,875 (GRCm39)	Y30N	probably benign	Het
Xpr1	A	G	1: 155,166,035 (GRCm39)	F571L	possibly damaging	Het
Yif1a	T	C	19: 5,139,815 (GRCm39)	S87P	probably damaging	Het
Zer1	T	C	2: 29,997,520 (GRCm39)	Y462C	probably damaging	Het
Zfp597	G	A	16: 3,684,375 (GRCm39)	P127L	possibly damaging	Het
Zxdc	T	C	6: 90,375,749 (GRCm39)	S742P	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
R1518:Entpd1	UTSW	19	40,713,507 (GRCm39)	nonsense	probably null
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
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'- GAGTCGCGTACTTCGTCATCAG -3'
(R):5'- ATCAGGTACTCAGTTTCCCGG -3'

Sequencing Primer
(F):5'- AGCTTCCGTCTGCGCATTG -3'
(R):5'- AGTTTCCCGGCACACGTAAG -3'

Posted On

2020-09-15