Mutagenetix > Incidental Mutation

Incidental Mutation 'R9318:Entpd7'

706013

Institutional Source

Beutler Lab

Gene Symbol

Entpd7

Ensembl Gene

ENSMUSG00000025192

Gene Name

ectonucleoside triphosphate diphosphohydrolase 7

Synonyms

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R9318 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43689672-43733697 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43704270 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 88 (V88E)

Ref Sequence

ENSEMBL: ENSMUSP00000079864 (fasta)

Gene Model

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

AlphaFold

Q3TCT4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081079
AA Change: V88E

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000079864
Gene: ENSMUSG00000025192
AA Change: V88E

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

99% (76/77)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	A	G	15: 94,403,440	S68P	possibly damaging	Het
Adcy6	A	T	15: 98,593,585	N1044K	possibly damaging	Het
Ak9	T	G	10: 41,423,085	M1594R	unknown	Het
Angpt1	A	G	15: 42,438,355	I419T	probably benign	Het
Ankrd31	A	T	13: 96,878,577	L1451F	probably benign	Het
Ap1b1	T	C	11: 5,040,157	I860T	probably benign	Het
Apc	G	A	18: 34,313,987	R1312Q	possibly damaging	Het
Cadps2	A	G	6: 23,496,888	Y453H	probably benign	Het
Carmil2	A	G	8: 105,687,854	T148A	probably benign	Het
Ccdc125	A	G	13: 100,696,412	Y499C	probably damaging	Het
Ccdc14	A	G	16: 34,704,918	M194V	possibly damaging	Het
Ccdc162	C	A	10: 41,630,114	M893I	probably benign	Het
Ccdc33	C	A	9: 58,086,593	W335L	possibly damaging	Het
Chn2	T	A	6: 54,295,855	Y355N	probably damaging	Het
Chst13	G	A	6: 90,309,524	P152L	probably damaging	Het
Clec4g	A	G	8: 3,716,500	M267T	probably damaging	Het
Clybl	G	A	14: 122,371,403	V136I	probably damaging	Het
Ctnnd1	G	T	2: 84,608,338	Q877K	probably benign	Het
Derl3	A	G	10: 75,894,014	K94R	probably null	Het
Dnah2	T	C	11: 69,484,329	E1356G	probably benign	Het
Dnah5	A	C	15: 28,203,908		probably benign	Het
Dusp19	T	A	2: 80,631,000	V211E	probably benign	Het
Fam114a1	T	A	5: 64,995,884	S140T	possibly damaging	Het
Fbxw13	A	G	9: 109,179,314	F456L	probably benign	Het
Fpr-rs4	A	T	17: 18,021,955	M75L	probably benign	Het
Gm11639	T	C	11: 104,965,822		probably null	Het
Grb14	T	G	2: 65,022,641	T2P	probably damaging	Het
Hace1	T	A	10: 45,652,673	S337T	probably benign	Het
Heatr5b	C	T	17: 78,765,402	V1611I	probably benign	Het
Hist2h2be	T	C	3: 96,221,365	V67A	probably benign	Het
Ints6	A	T	14: 62,696,698	S787T	probably benign	Het
Itga9	A	G	9: 118,626,468	K70R	probably benign	Het
Kcnt2	T	C	1: 140,425,195	I214T	probably damaging	Het
Kdelr3	C	A	15: 79,527,074	L203I	probably benign	Het
Kpnb1	A	G	11: 97,163,458	M842T	probably benign	Het
Lamc1	G	T	1: 153,252,000	R386S	probably damaging	Het
Lctl	A	G	9: 64,119,257		probably benign	Het
Lrrn3	G	A	12: 41,453,244	P358L	probably damaging	Het
Mag	T	C	7: 30,900,368	H582R	possibly damaging	Het
Megf9	A	T	4: 70,435,454	C372S	probably damaging	Het
Mfsd11	T	C	11: 116,859,572	F139S	probably damaging	Het
Mpst	G	T	15: 78,410,442	V125L	probably damaging	Het
Myo15b	T	C	11: 115,885,139	V587A	probably benign	Het
Myod1	A	T	7: 46,376,932	H87L	probably damaging	Het
Oacyl	G	T	18: 65,725,344	V247L	probably benign	Het
Olfr1116	A	C	2: 87,268,927	T49P	possibly damaging	Het
Olfr136	A	T	17: 38,335,429	T91S	possibly damaging	Het
Olfr177	A	G	16: 58,872,385	L255P	probably damaging	Het
Olfr181	A	T	16: 58,925,908	I221N	probably damaging	Het
Olfr350	G	A	2: 36,850,553	C169Y	probably benign	Het
Olfr598	T	A	7: 103,329,376	Y297N	probably damaging	Het
Olfr676	T	C	7: 105,035,623	Y142H	probably damaging	Het
Olfr804	A	G	10: 129,705,414	T179A	probably benign	Het
Olfr917	A	G	9: 38,665,284	S187P	possibly damaging	Het
Olfr983	A	C	9: 40,092,816	I50S	possibly damaging	Het
Pde3a	T	C	6: 141,479,476	F666S	probably benign	Het
Phf20	G	A	2: 156,273,770	R337H	probably benign	Het
Plcg2	G	A	8: 117,596,368	E721K	probably benign	Het
Prkg1	T	A	19: 30,571,638	T646S	probably benign	Het
Prr27	C	A	5: 87,843,135	P202Q	probably benign	Het
Prss16	C	A	13: 22,006,938	A206S	possibly damaging	Het
Prss37	A	T	6: 40,514,975	Y224N	probably damaging	Het
Ptprt	A	G	2: 161,575,778	L926S	probably benign	Het
Rgl1	G	A	1: 152,524,703	T649I	possibly damaging	Het
Rgs3	C	A	4: 62,640,782	D504E	probably benign	Het
Rp1	C	T	1: 4,348,265	A875T	probably benign	Het
Rpl9-ps1	T	A	11: 83,645,351	K91*	probably null	Het
Slc44a2	A	G	9: 21,341,972	Y65C	probably damaging	Het
Snw1	T	C	12: 87,458,904	K255E	probably damaging	Het
Sox6	T	C	7: 115,662,322	I220V	probably benign	Het
Synpo2	A	T	3: 123,080,056	I1146N	probably damaging	Het
Tas2r115	T	C	6: 132,737,509	R160G	probably benign	Het
Tchh	T	C	3: 93,446,744	F1164L	unknown	Het
Tmem110	T	A	14: 30,866,682	V122E	probably damaging	Het
Trim58	T	C	11: 58,651,267	V351A	probably damaging	Het
Ttf1	T	C	2: 29,074,654	S663P	possibly damaging	Het
Wdr59	A	G	8: 111,451,068	Y920H		Het
Zfp418	A	G	7: 7,182,436	Y466C	probably damaging	Het
Zfp827	A	T	8: 79,118,353	R717S	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
R8880:Entpd7	UTSW	19	43704407	splice site	probably benign
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'- AGCTTGGCCCATAGGATGTG -3'
(R):5'- CACAAAGACAAGGGGAGCTTCC -3'

Sequencing Primer
(F):5'- CTTGGCCCATAGGATGTGTAAGATG -3'
(R):5'- TGACGCCAGACCAGGTAAACG -3'

Posted On

2022-03-25