Mutagenetix > Incidental Mutation

Incidental Mutation 'R8880:Entpd7'

716013

Institutional Source

Beutler Lab

Gene Symbol

Entpd7

Ensembl Gene

ENSMUSG00000025192

Gene Name

ectonucleoside triphosphate diphosphohydrolase 7

Synonyms

1810020C02Rik, 2810003F23Rik, 1810012B13Rik, LALP1, Lysal2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R8880 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43689672-43733697 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 43704407 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000079864 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081079]

AlphaFold

Q3TCT4

Predicted Effect

probably benign
Transcript: ENSMUST00000081079

SMART Domains

Protein: ENSMUSP00000079864
Gene: ENSMUSG00000025192

Domain	Start	End	E-Value	Type
transmembrane domain	30	52	N/A	INTRINSIC
Pfam:GDA1_CD39	75	534	3.6e-106	PFAM
transmembrane domain	550	572	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (82/82)

MGI Phenotype

PHENOTYPE: Mice homozygous for deletions in this gene have increased Th17 T cell levels in the lamina propria of the small intestine. They show increased resistance to Citrobacter rodentium infection and increased susceptibility to experimental autoimmune encephalomyelitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	C	1: 105,664,495	Y130H	probably damaging	Het
3425401B19Rik	C	T	14: 32,660,880	V1043I	probably benign	Het
5031439G07Rik	T	A	15: 84,955,666	I176F	possibly damaging	Het
Adam6b	T	A	12: 113,491,144	M527K	probably benign	Het
Atp10b	C	T	11: 43,215,984	T615I	probably benign	Het
Atxn2	A	G	5: 121,810,910	T1117A	probably benign	Het
AU021092	A	T	16: 5,214,721		probably benign	Het
Bcam	C	T	7: 19,758,746	V505M	probably damaging	Het
Bco2	A	T	9: 50,550,662	L14Q	probably damaging	Het
Caps2	T	G	10: 112,194,919		probably benign	Het
Cblb	T	C	16: 52,166,005	V537A	probably benign	Het
Ccdc141	A	T	2: 77,015,212	N1170K	probably benign	Het
Ccdc154	T	G	17: 25,170,155	D442E	probably benign	Het
Col24a1	A	G	3: 145,314,037	I60V	probably null	Het
Crb1	A	T	1: 139,237,148	N1140K	probably benign	Het
Ddhd1	G	A	14: 45,608,973	P621S	probably benign	Het
Ddx46	A	T	13: 55,666,220	N663I	probably benign	Het
Dgki	C	T	6: 37,034,717		probably benign	Het
Disp2	T	C	2: 118,790,758	F657S	probably damaging	Het
Dnajc2	T	C	5: 21,768,672	E262G	probably damaging	Het
Dvl2	T	A	11: 70,007,935	L408Q	possibly damaging	Het
Egflam	T	C	15: 7,237,768	D712G	probably damaging	Het
Epb41	A	T	4: 131,967,793	W28R		Het
Fabp9	C	T	3: 10,197,171		probably benign	Het
Fkbp15	T	A	4: 62,314,365	M657L	probably benign	Het
Gfy	A	C	7: 45,178,360	L104R	possibly damaging	Het
Gm13103	T	C	4: 143,846,570		probably null	Het
Gm4070	T	C	7: 105,901,913	K644R	probably benign	Het
Gm4884	A	T	7: 41,044,487	I627F	probably damaging	Het
Gm9195	A	T	14: 72,453,880	S1643T	unknown	Het
Gpsm2	C	T	3: 108,703,019	A42T	possibly damaging	Het
Gys2	T	C	6: 142,456,387	Y242C	probably damaging	Het
Hbs1l	A	G	10: 21,309,969	N430S	probably damaging	Het
Idh3b	A	T	2: 130,284,084		probably benign	Het
Igdcc3	C	T	9: 65,181,268	A384V	probably benign	Het
Ighv3-4	C	T	12: 114,253,915	D19N	possibly damaging	Het
Igkv19-93	G	T	6: 68,736,510	A45E	probably damaging	Het
Il10ra	G	A	9: 45,264,333	T230M	probably damaging	Het
Kalrn	A	G	16: 34,217,935	V1009A	probably damaging	Het
Kcnma1	G	T	14: 23,367,650	A837D	probably damaging	Het
Kif7	T	A	7: 79,698,902	R1231S	probably benign	Het
Klhdc1	A	G	12: 69,252,043	D134G	possibly damaging	Het
Klk14	T	C	7: 43,694,035	V97A	probably damaging	Het
Lamb3	G	A	1: 193,321,055	V101M	possibly damaging	Het
Lrrc7	C	T	3: 158,161,744	E787K	probably damaging	Het
Mep1a	A	G	17: 43,497,917	I94T	possibly damaging	Het
Ncr1	C	T	7: 4,338,337	S109L	probably benign	Het
Nell2	A	T	15: 95,231,448	M678K	probably damaging	Het
Olfr165	A	T	16: 19,407,646	Y123*	probably null	Het
Olfr27	T	A	9: 39,144,603	F168I	probably damaging	Het
Olfr296-ps1	G	A	7: 86,562,341	C203Y	unknown	Het
Olfr536	C	A	7: 140,504,259	A67S	probably benign	Het
Pnpla1	A	C	17: 28,879,464	Y248S	probably damaging	Het
Prdm10	T	C	9: 31,353,446	F726L	probably damaging	Het
Prdm16	T	C	4: 154,528,913	N19S	probably damaging	Het
Prss44	A	G	9: 110,814,195	R53G	probably benign	Het
Rasgrp1	C	T	2: 117,284,944	R721Q	probably benign	Het
Rassf1	A	T	9: 107,557,541	N149I	probably damaging	Het
Rbp3	A	C	14: 33,956,839	T915P	probably benign	Het
Reg3g	A	T	6: 78,467,805	D63E	probably benign	Het
Rgs3	C	A	4: 62,625,136	T236K	probably damaging	Het
Rin2	T	C	2: 145,848,852	F147L	probably damaging	Het
Skiv2l2	T	A	13: 112,914,500	K180N	probably benign	Het
Slc17a1	T	C	13: 23,878,749	I266T	probably benign	Het
Slc34a3	A	T	2: 25,229,255	N534K	probably benign	Het
Smc2	A	T	4: 52,462,856	E615D	probably benign	Het
Snx16	A	C	3: 10,419,133	D343E	probably benign	Het
St18	T	A	1: 6,795,395	Y32*	probably null	Het
Svep1	C	T	4: 58,064,204	V3260I	possibly damaging	Het
Synm	C	T	7: 67,736,708	R402H	possibly damaging	Het
Tacc2	A	T	7: 130,716,834	E67V	possibly damaging	Het
Tarbp1	G	T	8: 126,471,305	N302K	probably damaging	Het
Tenm2	A	G	11: 36,051,961	S1294P	probably damaging	Het
Ttk	T	C	9: 83,869,251	S794P	probably damaging	Het
Ulk1	G	A	5: 110,786,422	A999V	probably damaging	Het
Upf2	A	G	2: 6,026,172	I808V	unknown	Het
Ush2a	A	G	1: 188,728,536	T2665A	probably benign	Het
Usp8	A	G	2: 126,748,309	K672E	probably damaging	Het
Vmn2r105	T	A	17: 20,208,967	I616F	probably damaging	Het
Vps33a	T	C	5: 123,569,443	M154V	probably damaging	Het
Wdfy4	A	C	14: 33,073,535	Y2083*	probably null	Het
Zc3hav1	A	G	6: 38,311,277	F875L	probably benign	Het
Zfp979	T	C	4: 147,613,379	N291S	probably benign	Het
Zp2	T	A	7: 120,143,612	Y99F	possibly damaging	Het

Other mutations in Entpd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01431:Entpd7	APN	19	43729839	missense	probably benign	0.00
R0056:Entpd7	UTSW	19	43725294	missense	probably benign	0.09
R0118:Entpd7	UTSW	19	43704312	nonsense	probably null
R0639:Entpd7	UTSW	19	43691094	missense	probably benign	0.42
R1479:Entpd7	UTSW	19	43721840	missense	probably damaging	1.00
R1532:Entpd7	UTSW	19	43691077	missense	possibly damaging	0.76
R1647:Entpd7	UTSW	19	43721745	splice site	probably benign
R1689:Entpd7	UTSW	19	43725476	missense	probably damaging	0.96
R2230:Entpd7	UTSW	19	43721816	missense	probably benign	0.07
R2231:Entpd7	UTSW	19	43721816	missense	probably benign	0.07
R2422:Entpd7	UTSW	19	43728088	missense	possibly damaging	0.66
R3807:Entpd7	UTSW	19	43725540	critical splice donor site	probably null
R3914:Entpd7	UTSW	19	43691158	missense	probably benign	0.00
R3949:Entpd7	UTSW	19	43691158	missense	probably benign	0.00
R4021:Entpd7	UTSW	19	43691158	missense	probably benign	0.00
R4022:Entpd7	UTSW	19	43691158	missense	probably benign	0.00
R4095:Entpd7	UTSW	19	43704201	missense	probably damaging	1.00
R4737:Entpd7	UTSW	19	43691195	nonsense	probably null
R5582:Entpd7	UTSW	19	43704994	missense	probably damaging	1.00
R5653:Entpd7	UTSW	19	43691157	nonsense	probably null
R5763:Entpd7	UTSW	19	43704266	missense	probably damaging	1.00
R6508:Entpd7	UTSW	19	43691086	missense	probably damaging	1.00
R7657:Entpd7	UTSW	19	43725467	missense	possibly damaging	0.67
R8013:Entpd7	UTSW	19	43728055	missense	probably benign	0.00
R8235:Entpd7	UTSW	19	43717545	missense	probably damaging	1.00
R9318:Entpd7	UTSW	19	43704270	missense	possibly damaging	0.88
R9564:Entpd7	UTSW	19	43717450	missense	probably benign	0.01
Z1176:Entpd7	UTSW	19	43725358	missense	probably benign	0.43
Z1177:Entpd7	UTSW	19	43725497	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACGGAAGACCCAAATCTGAATTATG -3'
(R):5'- AGACACACATATACAGGCTGG -3'

Sequencing Primer
(F):5'- CCCAAATCTGAATTATGGACTCGTGG -3'
(R):5'- TTGGCAGTCAACCTGGACTAC -3'

Posted On

2022-06-22