Mutagenetix > Incidental Mutation

Incidental Mutation 'R5906:Entpd1'

460670

Institutional Source

Beutler Lab

Gene Symbol

Entpd1

Ensembl Gene

ENSMUSG00000048120

Gene Name

ectonucleoside triphosphate diphosphohydrolase 1

Synonyms

2610206B08Rik, ectoapyrase, NTPDase-1, Cd39

MMRRC Submission

044103-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5906 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40600810-40730046 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 40727283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 448 (A448E)

Ref Sequence

ENSEMBL: ENSMUSP00000107850 (fasta)

Gene Model

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

AlphaFold

P55772

Predicted Effect

probably damaging
Transcript: ENSMUST00000112231
AA Change: A448E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107850
Gene: ENSMUSG00000048120
AA Change: A448E

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: ENSMUST00000134063
AA Change: A477E

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

SMART Domains

Protein: ENSMUSP00000116285
Gene: ENSMUSG00000048120
AA Change: A477E

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: ENSMUST00000151726

Predicted Effect

probably benign
Transcript: ENSMUST00000156598

SMART Domains

Protein: ENSMUSP00000116349
Gene: ENSMUSG00000048120

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.4%
20x: 92.4%

Validation Efficiency

95% (81/85)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	C	A	11: 58,182,260 (GRCm39)		probably null	Het
9130023H24Rik	G	A	7: 127,835,664 (GRCm39)	P310S	probably benign	Het
Abcc10	G	T	17: 46,627,485 (GRCm39)	H652Q	probably benign	Het
Actl6b	A	G	5: 137,565,591 (GRCm39)	I396V	possibly damaging	Het
Acvr1b	T	C	15: 101,091,772 (GRCm39)		probably benign	Het
Adamts18	A	T	8: 114,436,251 (GRCm39)	H989Q	probably benign	Het
Adamtsl4	T	C	3: 95,588,094 (GRCm39)	Y631C	probably damaging	Het
Angptl3	A	G	4: 98,925,804 (GRCm39)	T377A	probably benign	Het
Ankmy2	G	A	12: 36,226,632 (GRCm39)	V109M	probably damaging	Het
Anpep	G	A	7: 79,483,423 (GRCm39)	A689V	probably benign	Het
Brwd1	A	T	16: 95,859,938 (GRCm39)	M350K	probably damaging	Het
Cacna1d	C	T	14: 29,818,917 (GRCm39)	V1213I	probably damaging	Het
Capn1	A	G	19: 6,061,451 (GRCm39)	F156L	possibly damaging	Het
Catsperb	C	A	12: 101,476,721 (GRCm39)	F408L	probably damaging	Het
Ccdc146	A	T	5: 21,506,350 (GRCm39)	L697Q	possibly damaging	Het
Cdc37l1	T	A	19: 28,989,386 (GRCm39)	V281E	probably benign	Het
Chia1	A	T	3: 106,039,304 (GRCm39)	T465S	probably benign	Het
Cidec	A	T	6: 113,405,282 (GRCm39)		probably null	Het
Clcnkb	T	C	4: 141,139,610 (GRCm39)	T131A	probably benign	Het
Clec5a	T	A	6: 40,558,793 (GRCm39)	M98L	probably benign	Het
Cnga1	A	T	5: 72,768,201 (GRCm39)	F162I	probably benign	Het
Cyp27b1	A	T	10: 126,884,267 (GRCm39)	I40F	probably damaging	Het
Edrf1	A	G	7: 133,265,144 (GRCm39)	S1027G	probably benign	Het
Espl1	T	C	15: 102,205,286 (GRCm39)		probably null	Het
Etfdh	T	C	3: 79,511,422 (GRCm39)	I520V	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Gabra4	G	A	5: 71,781,253 (GRCm39)	P386L	probably benign	Het
Gckr	G	T	5: 31,463,922 (GRCm39)	V281L	probably damaging	Het
Gfy	T	C	7: 44,827,167 (GRCm39)	T310A	probably benign	Het
Gjc2	C	A	11: 59,067,667 (GRCm39)	V272L	probably benign	Het
Gm13441	G	C	2: 31,777,511 (GRCm39)		silent	Het
H2-DMb2	T	A	17: 34,367,582 (GRCm39)	M1K	probably null	Het
Hipk3	T	C	2: 104,302,153 (GRCm39)	Y13C	probably damaging	Het
Kcnt1	A	T	2: 25,784,536 (GRCm39)		probably benign	Het
Kcnt1	T	C	2: 25,788,413 (GRCm39)	F336S	probably damaging	Het
Klhdc7b	A	G	15: 89,271,359 (GRCm39)	D747G	probably benign	Het
Krt78	T	A	15: 101,857,030 (GRCm39)	E359V	probably damaging	Het
Mast4	T	C	13: 102,872,252 (GRCm39)	D2195G	probably benign	Het
Matk	C	T	10: 81,096,753 (GRCm39)	L188F	probably damaging	Het
Mcoln2	T	C	3: 145,889,496 (GRCm39)	I399T	probably damaging	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Nap1l1	A	T	10: 111,326,891 (GRCm39)	K151*	probably null	Het
Ncbp3	T	A	11: 72,964,327 (GRCm39)	S426T	probably benign	Het
Nisch	T	A	14: 30,893,985 (GRCm39)		probably null	Het
Or4k15b	T	C	14: 50,272,306 (GRCm39)	T185A	probably benign	Het
Or5b113	T	C	19: 13,342,369 (GRCm39)	C126R	probably damaging	Het
Or8a1b	A	G	9: 37,623,101 (GRCm39)	I158T	probably benign	Het
Or8b8	A	G	9: 37,809,174 (GRCm39)	H158R	probably damaging	Het
Peg3	T	C	7: 6,720,854 (GRCm39)	D17G	probably damaging	Het
Pkd1	G	A	17: 24,791,894 (GRCm39)	V1194M	probably benign	Het
Pkd1l2	A	T	8: 117,756,387 (GRCm39)	I1615N	probably damaging	Het
Pkd2	A	T	5: 104,625,045 (GRCm39)		probably null	Het
Pkp4	T	A	2: 59,135,420 (GRCm39)	N97K	possibly damaging	Het
Prrx2	C	T	2: 30,769,522 (GRCm39)	R78C	probably damaging	Het
Pycr1	T	A	11: 120,532,988 (GRCm39)	I91F	probably damaging	Het
Rap1a	T	C	3: 105,645,081 (GRCm39)	N87S	possibly damaging	Het
Sbk2	T	G	7: 4,960,627 (GRCm39)	Y181S	probably damaging	Het
Scart1	T	A	7: 139,808,712 (GRCm39)	D874E	probably damaging	Het
Sec16a	A	T	2: 26,328,843 (GRCm39)	H1057Q	possibly damaging	Het
Sfswap	G	A	5: 129,619,107 (GRCm39)	E486K	probably benign	Het
Shank3	T	C	15: 89,433,119 (GRCm39)	V1213A	probably damaging	Het
Slfn5	T	A	11: 82,848,102 (GRCm39)	I329K	probably benign	Het
Slit1	T	A	19: 41,594,813 (GRCm39)	N1186Y	probably damaging	Het
Ssbp3	A	G	4: 106,867,018 (GRCm39)		probably benign	Het
Steap3	T	A	1: 120,171,731 (GRCm39)	I125F	probably damaging	Het
Synpr	C	A	14: 13,608,788 (GRCm38)		probably benign	Het
Tom1	T	C	8: 75,776,886 (GRCm39)	L69P	probably damaging	Het
Traf3ip3	T	A	1: 192,880,314 (GRCm39)	D5V	possibly damaging	Het
Vmn1r29	G	A	6: 58,284,736 (GRCm39)	S152N	probably benign	Het
Vmn1r68	T	C	7: 10,261,550 (GRCm39)	I183V	probably benign	Het
Wdr17	C	G	8: 55,092,503 (GRCm39)	V1094L	probably benign	Het
Wdr95	A	G	5: 149,487,692 (GRCm39)	I109V	possibly damaging	Het
Zfp39	T	C	11: 58,793,717 (GRCm39)	D7G	probably benign	Het
Zfp512	A	T	5: 31,637,408 (GRCm39)	Q443L	probably damaging	Het
Zfp974	T	A	7: 27,610,230 (GRCm39)	K498N	possibly damaging	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
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'- CTAATGGTGAGGCTCCAACC -3'
(R):5'- TCCAGCCAGCACATTTCAGC -3'

Sequencing Primer
(F):5'- CCCCCATCACTTCCAATTGTAG -3'
(R):5'- CTGCCTCTTTCCAGAAATATGAAGGC -3'

Posted On

2017-02-28