Mutagenetix > Incidental Mutation

Incidental Mutation 'R7657:Entpd7'

591311

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 #

R7657 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43689672-43733697 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43725467 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 422 (F422L)

Ref Sequence

ENSEMBL: ENSMUSP00000079864 (fasta)

Gene Model

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

AlphaFold

Q3TCT4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081079
AA Change: F422L

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000079864
Gene: ENSMUSG00000025192
AA Change: F422L

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: 99.7%
20x: 99.0%

Validation Efficiency

100% (80/80)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	A	G	11: 59,208,511	E28G	possibly damaging	Het
Acot6	G	A	12: 84,106,530	G182D	possibly damaging	Het
Actl9	A	G	17: 33,433,040	T25A	probably benign	Het
Adam26b	G	A	8: 43,521,542	T141I	possibly damaging	Het
Agl	T	C	3: 116,779,163	H148R		Het
Angptl1	A	G	1: 156,857,220	I320V	probably benign	Het
Arhgef10	C	T	8: 14,979,893	R932C	probably damaging	Het
Atp13a2	A	G	4: 140,992,504	E91G	possibly damaging	Het
Bptf	T	A	11: 107,074,729	E1213V	probably damaging	Het
C530025M09Rik	A	G	2: 149,830,621	V198A	unknown	Het
Casd1	A	T	6: 4,619,773	I173F	probably benign	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Col1a2	A	T	6: 4,527,152	K627M	probably null	Het
Ctcfl	G	A	2: 173,113,656	T271I	possibly damaging	Het
Dctn2	T	C	10: 127,266,514	Y6H	probably damaging	Het
Denr	T	C	5: 123,908,200	V31A	probably damaging	Het
Fam208b	A	G	13: 3,573,777	S2058P	probably damaging	Het
Fastkd5	G	C	2: 130,616,256	P138R	probably benign	Het
Fmn1	G	T	2: 113,525,193	A758S	unknown	Het
Fmo2	A	G	1: 162,888,844	V58A	probably damaging	Het
Fmo6	A	G	1: 162,922,716	I257T	probably benign	Het
Foxn1	T	C	11: 78,365,964	T302A	probably benign	Het
Ganab	C	T	19: 8,907,357	L175F	probably damaging	Het
Gga1	A	T	15: 78,889,127		probably null	Het
Gjd3	G	T	11: 98,982,760	S86*	probably null	Het
Gm1330	A	G	2: 148,999,234		probably null	Het
Gm18596	A	C	10: 77,742,113	S176A	unknown	Het
Gnl2	A	G	4: 125,030,158	S10G	probably benign	Het
Gpsm2	G	A	3: 108,700,745	A239V	probably damaging	Het
Grik2	T	C	10: 49,783,151	R37G	probably benign	Het
Grm3	A	G	5: 9,511,452		probably null	Het
Gtpbp3	T	C	8: 71,491,121	L216P	probably benign	Het
Hhla1	T	C	15: 65,965,459	T99A	probably damaging	Het
Igtp	A	T	11: 58,206,828	Q275L	probably benign	Het
Itga6	G	A	2: 71,846,251	A993T	probably benign	Het
Jakmip3	T	A	7: 139,019,174	I234N	probably damaging	Het
Kcnh7	A	G	2: 62,736,035	F851L	probably damaging	Het
Krr1	A	G	10: 111,975,599	Y66C	probably damaging	Het
Krt33a	T	A	11: 100,015,867	Q94L	probably benign	Het
Mat1a	A	T	14: 41,122,519	K369*	probably null	Het
Mbd1	T	G	18: 74,274,733	L277R	probably damaging	Het
Mmp21	C	T	7: 133,678,833	G136D	probably benign	Het
Mroh3	A	G	1: 136,181,794	Y892H	possibly damaging	Het
Ncbp3	G	A	11: 73,073,367	R381Q	probably damaging	Het
Nlrp2	T	A	7: 5,319,168	I827L	probably benign	Het
Nrip1	T	A	16: 76,294,699		probably null	Het
Olfr1136	C	T	2: 87,692,992	V297I	probably damaging	Het
Olfr1310	A	G	2: 112,008,748	V146A	probably benign	Het
Olfr316	A	T	11: 58,757,929	D88V	probably benign	Het
Oxt	C	T	2: 130,576,790	P107L	possibly damaging	Het
Pcdhga2	G	A	18: 37,670,428	V442M	probably damaging	Het
Phtf1	T	G	3: 103,969,113	S10A	probably benign	Het
Plb1	A	C	5: 32,329,867	N902T	probably damaging	Het
Plppr3	T	C	10: 79,866,438	I267V	probably benign	Het
Pms2	C	A	5: 143,919,539	H278Q	possibly damaging	Het
Pmvk	T	A	3: 89,468,851	S154T	possibly damaging	Het
Polr3b	T	A	10: 84,655,991	M338K	probably damaging	Het
Ppp1r21	T	A	17: 88,555,682	I283N	probably damaging	Het
Ptprj	A	T	2: 90,452,157		probably null	Het
Rft1	T	A	14: 30,666,767	L216H	probably damaging	Het
Rpl3	G	A	15: 80,081,057	P174S	probably benign	Het
Rtl1	T	C	12: 109,595,384	D7G	possibly damaging	Het
Slc13a2	A	G	11: 78,398,397	V496A	probably damaging	Het
Slc14a1	A	G	18: 78,113,664		probably null	Het
Slc8a3	T	C	12: 81,314,384	R554G	probably damaging	Het
Spata31d1b	T	C	13: 59,715,763	S242P	possibly damaging	Het
Spocd1	G	A	4: 129,929,742	V111I		Het
Stxbp5l	G	A	16: 37,210,172	A479V	probably null	Het
Tmem238	C	G	7: 4,789,227	G106R	probably damaging	Het
Trak1	T	G	9: 121,472,586	Y803D	probably damaging	Het
Trim5	T	C	7: 104,276,677	S226G	possibly damaging	Het
Trim6	T	A	7: 104,231,861	D282E	possibly damaging	Het
Ube2e2	A	G	14: 18,586,997	V121A	probably benign	Het
Ufd1	T	G	16: 18,817,963	M77R	probably benign	Het
Unc13c	C	T	9: 73,533,903		probably null	Het
Wfs1	A	G	5: 36,968,234	S438P	probably benign	Het
Zbtb6	A	C	2: 37,429,075	D280E	probably benign	Het
Zfp595	G	A	13: 67,317,753	L152F	probably damaging	Het
Zfpm2	A	G	15: 41,103,275	E1052G	possibly damaging	Het
Zmym5	A	G	14: 56,804,196	V150A	probably benign	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
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
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'- GTGGGACTCACAGATATGGTG -3'
(R):5'- ACATCAGGAGGCCGTTTAACAG -3'

Sequencing Primer
(F):5'- CTCACAGATATGGTGAAGAGGAAC -3'
(R):5'- CCTTGTAAAGCCTCAGGTGAGATC -3'

Posted On

2019-11-12