Mutagenetix > Incidental Mutation

Incidental Mutation 'R7154:Entpd1'

557182

Institutional Source

Beutler Lab

Gene Symbol

Entpd1

Ensembl Gene

ENSMUSG00000048120

Gene Name

ectonucleoside triphosphate diphosphohydrolase 1

Synonyms

2610206B08Rik, ectoapyrase, NTPDase-1, Cd39

MMRRC Submission

045256-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7154 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40600810-40730046 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40713430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 188 (Y188H)

Ref Sequence

ENSEMBL: ENSMUSP00000116285 (fasta)

Gene Model

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

AlphaFold

P55772

Predicted Effect

probably damaging
Transcript: ENSMUST00000112231
AA Change: Y159H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107850
Gene: ENSMUSG00000048120
AA Change: Y159H

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 damaging
Transcript: ENSMUST00000127828
AA Change: Y51H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117213
Gene: ENSMUSG00000048120
AA Change: Y51H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000134063
AA Change: Y188H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116285
Gene: ENSMUSG00000048120
AA Change: Y188H

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156598
AA Change: Y159H

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000116349
Gene: ENSMUSG00000048120
AA Change: Y159H

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

Meta Mutation Damage Score

0.2488

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (67/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030423J24Rik	T	C	13: 71,032,344 (GRCm39)	F139L	unknown	Het
Adgre1	G	A	17: 57,751,087 (GRCm39)		probably null	Het
Agap2	A	G	10: 126,927,524 (GRCm39)	D1135G	probably benign	Het
Akp3	T	C	1: 87,052,946 (GRCm39)	L45P	probably damaging	Het
Arfgap3	A	T	15: 83,220,905 (GRCm39)	W71R	probably damaging	Het
Asic3	G	A	5: 24,618,660 (GRCm39)		probably benign	Het
Asph	A	T	4: 9,630,930 (GRCm39)	N139K	possibly damaging	Het
Atr	T	A	9: 95,747,098 (GRCm39)	C127S	probably benign	Het
Auts2	A	T	5: 131,480,731 (GRCm39)	S255T		Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Cacnb1	A	G	11: 97,895,959 (GRCm39)	L443P	probably damaging	Het
Cbfa2t3	G	A	8: 123,364,883 (GRCm39)	Q300*	probably null	Het
Ccer1	A	T	10: 97,530,201 (GRCm39)	D288V	unknown	Het
Col18a1	G	A	10: 76,908,799 (GRCm39)	P611S	probably benign	Het
Cpa6	T	A	1: 10,407,694 (GRCm39)	D281V	possibly damaging	Het
Cyp2e1	A	G	7: 140,350,050 (GRCm39)	Y245C	probably damaging	Het
Cyp4a31	T	C	4: 115,431,963 (GRCm39)		probably null	Het
Efcab3	T	A	11: 104,589,966 (GRCm39)		probably null	Het
Epb42	T	C	2: 120,863,843 (GRCm39)	D111G	probably benign	Het
Espl1	A	G	15: 102,232,484 (GRCm39)	D2064G	probably damaging	Het
Fat3	A	C	9: 15,908,160 (GRCm39)	V2614G	probably damaging	Het
Fos	A	T	12: 85,520,931 (GRCm39)	M40L	probably benign	Het
Frmd4b	T	A	6: 97,283,707 (GRCm39)	E434V	probably damaging	Het
Galnt6	A	T	15: 100,591,345 (GRCm39)	D586E	probably benign	Het
Gapvd1	T	C	2: 34,615,075 (GRCm39)	K474R	probably damaging	Het
Gimap8	T	A	6: 48,633,122 (GRCm39)	F314I	probably damaging	Het
Gm14393	T	G	2: 174,903,576 (GRCm39)	K110N	probably damaging	Het
Gm4131	C	A	14: 62,718,382 (GRCm39)	A75S	probably damaging	Het
Heatr6	G	A	11: 83,668,067 (GRCm39)	V854I	probably benign	Het
Hic2	T	A	16: 17,076,806 (GRCm39)	M545K	possibly damaging	Het
Ift70b	C	T	2: 75,768,405 (GRCm39)	R116H	possibly damaging	Het
Ip6k1	A	G	9: 107,922,861 (GRCm39)	Y331C	probably damaging	Het
Kalrn	C	T	16: 34,032,527 (GRCm39)		probably null	Het
Kxd1	T	C	8: 70,968,084 (GRCm39)	K88E	probably damaging	Het
Lrrc37a	A	C	11: 103,393,682 (GRCm39)	V581G	probably benign	Het
Mex3d	A	T	10: 80,222,584 (GRCm39)	V224E		Het
Mtx2	T	A	2: 74,706,762 (GRCm39)	C246S	probably damaging	Het
Mybbp1a	A	G	11: 72,338,468 (GRCm39)		probably null	Het
Myh6	A	G	14: 55,197,764 (GRCm39)	I458T	probably benign	Het
Ndufs6	A	G	13: 73,468,411 (GRCm39)	V96A	possibly damaging	Het
Nemf	A	T	12: 69,363,515 (GRCm39)		probably null	Het
Notch1	T	C	2: 26,349,950 (GRCm39)	S2397G	probably benign	Het
Or4c15b	A	G	2: 89,113,204 (GRCm39)	I91T	probably damaging	Het
Or6ae1	T	C	7: 139,741,997 (GRCm39)	I289V	probably benign	Het
Osbpl1a	T	C	18: 12,901,649 (GRCm39)	E619G	probably benign	Het
Pfkl	T	C	10: 77,837,289 (GRCm39)	R95G	probably benign	Het
Plat	T	A	8: 23,268,521 (GRCm39)	I391K	possibly damaging	Het
Ppp1r21	A	G	17: 88,862,314 (GRCm39)	H244R	probably damaging	Het
Rapgef3	G	C	15: 97,651,758 (GRCm39)	H578Q	probably benign	Het
Rnf145	C	A	11: 44,415,822 (GRCm39)	N12K	probably damaging	Het
Sfxn5	C	T	6: 85,309,405 (GRCm39)	C100Y	unknown	Het
Sh3rf1	T	A	8: 61,825,748 (GRCm39)	L581Q	possibly damaging	Het
Sipa1l2	T	C	8: 126,195,078 (GRCm39)	K887E	probably benign	Het
Spopfm2	A	G	3: 94,083,526 (GRCm39)	I95T	probably benign	Het
Stard9	C	A	2: 120,531,795 (GRCm39)	T2684N	probably benign	Het
Stard9	A	C	2: 120,535,023 (GRCm39)	Q3760P	probably benign	Het
Stpg2	A	G	3: 138,921,056 (GRCm39)	E87G	probably benign	Het
Syne2	A	G	12: 76,106,231 (GRCm39)	Q792R	possibly damaging	Het
Taf7	T	C	18: 37,775,601 (GRCm39)	D322G	possibly damaging	Het
Tbc1d1	A	G	5: 64,331,156 (GRCm39)	S112G	possibly damaging	Het
Tbx3	A	G	5: 119,810,093 (GRCm39)	M5V	possibly damaging	Het
Tmem45b	A	T	9: 31,339,328 (GRCm39)	I215N	possibly damaging	Het
Tpd52	G	A	3: 9,028,916 (GRCm39)	Q43*	probably null	Het
Trpa1	T	A	1: 14,952,457 (GRCm39)	N858I	possibly damaging	Het
Ttll5	A	G	12: 85,972,538 (GRCm39)	D767G	probably damaging	Het
Vmn2r3	G	A	3: 64,194,732 (GRCm39)	T62I	probably benign	Het
Wdr59	A	T	8: 112,185,367 (GRCm39)	N874K		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
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'- AGGTTCTCTGACTGAAATGGGTAG -3'
(R):5'- CTTTGCTAAAGACCCAAATATTGCC -3'

Sequencing Primer
(F):5'- CTCTGACTGAAATGGGTAGATGTAAC -3'
(R):5'- TTGCCCAAGATAATAATGGCAGTGAC -3'

Posted On

2019-06-26