Mutagenetix > Incidental Mutation

Incidental Mutation 'R2230:Entpd7'

240022

Institutional Source

Beutler Lab

Gene Symbol

Entpd7

Ensembl Gene

ENSMUSG00000025192

Gene Name

ectonucleoside triphosphate diphosphohydrolase 7

Synonyms

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

MMRRC Submission

040231-MU

Accession Numbers

Essential gene?

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

Stock #

R2230 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43689672-43733697 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43721816 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 304 (V304A)

Ref Sequence

ENSEMBL: ENSMUSP00000079864 (fasta)

Gene Model

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

AlphaFold

Q3TCT4

Predicted Effect

probably benign
Transcript: ENSMUST00000081079
AA Change: V304A

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000079864
Gene: ENSMUSG00000025192
AA Change: V304A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131293

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144314

Meta Mutation Damage Score

0.1183

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (62/62)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430573F11Rik	T	A	8: 36,512,553	C437S	probably damaging	Het
Adam12	A	T	7: 133,919,618	N280K	probably damaging	Het
Adgrf4	C	T	17: 42,666,898	R518Q	possibly damaging	Het
Ankra2	T	C	13: 98,271,138	F199L	probably damaging	Het
Ankrd63	A	G	2: 118,703,365		probably benign	Het
Apoa2	A	G	1: 171,225,771	K53R	probably benign	Het
Atr	A	G	9: 95,920,765	R1827G	probably damaging	Het
Ccdc61	T	C	7: 18,891,107	E502G	probably damaging	Het
Cdon	T	C	9: 35,491,926		probably null	Het
Ctgf	T	A	10: 24,596,473	M138K	possibly damaging	Het
Cyp2c68	T	A	19: 39,699,360	S398C	probably benign	Het
Cyp2e1	T	C	7: 140,764,914	S98P	probably damaging	Het
Dock2	T	A	11: 34,294,323	I1036F	probably damaging	Het
Ergic3	A	G	2: 156,017,816	T346A	probably damaging	Het
F2	T	C	2: 91,625,757	D553G	probably benign	Het
Fam189a1	G	A	7: 64,759,222	H475Y	probably damaging	Het
Fam227a	T	A	15: 79,615,381	Y591F	possibly damaging	Het
Gal3st1	T	C	11: 3,998,282	I163T	probably benign	Het
Gm10650	A	G	3: 128,039,763		noncoding transcript	Het
Gm21850	G	T	2: 154,058,328	V202L	probably benign	Het
Hdc	T	A	2: 126,594,018	E644D	possibly damaging	Het
Hypk	G	A	2: 121,457,292		probably null	Het
Kif21a	G	A	15: 90,985,362	Q429*	probably null	Het
Mgll	G	A	6: 88,825,732	V318M	possibly damaging	Het
Mrgprb3	T	C	7: 48,643,022	I260M	probably benign	Het
Musk	A	T	4: 58,333,672	I256F	possibly damaging	Het
Myl3	T	C	9: 110,767,911	L113P	probably damaging	Het
Myo5c	A	G	9: 75,273,606	D759G	probably benign	Het
Nkx2-1	G	A	12: 56,533,286	Q290*	probably null	Het
Oaz3	T	C	3: 94,434,539	T130A	probably benign	Het
Olfr140	A	T	2: 90,052,225	F33Y	probably benign	Het
Olfr1406	A	G	1: 173,183,615	I273T	probably benign	Het
Olfr828	A	G	9: 18,815,725	S190P	probably damaging	Het
Olfr891	T	C	9: 38,180,146	T226A	probably benign	Het
Pabpc2	G	A	18: 39,775,070	V463I	probably benign	Het
Piezo2	A	T	18: 63,145,072	C254S	probably damaging	Het
Plxnd1	C	A	6: 115,964,144	R1302L	probably damaging	Het
Pnpla7	T	C	2: 25,051,598		probably benign	Het
Ppl	G	A	16: 5,088,981	T1150I	possibly damaging	Het
Prkag2	G	T	5: 24,908,364	A113E	probably benign	Het
Proz	A	G	8: 13,063,356	Y59C	probably damaging	Het
Prr5	T	C	15: 84,702,780	S244P	probably benign	Het
Sec14l5	A	G	16: 5,176,481	T380A	probably damaging	Het
Snw1	A	G	12: 87,452,658	V391A	probably benign	Het
Sp2	C	T	11: 96,955,936	C527Y	probably damaging	Het
Sspo	A	G	6: 48,448,672	I76V	probably damaging	Het
Sspo	C	A	6: 48,500,503	Q5123K	probably benign	Het
Tbc1d21	A	C	9: 58,363,080	N137K	probably damaging	Het
Tek	G	A	4: 94,811,336	C317Y	probably damaging	Het
Tet3	T	C	6: 83,369,471	D1328G	probably damaging	Het
Topbp1	T	A	9: 103,345,848	I1377N	probably damaging	Het
Ttf2	A	G	3: 100,957,944	V544A	probably damaging	Het
Ttn	A	T	2: 76,944,153	F2136L	probably damaging	Het
Ugt2b38	A	G	5: 87,421,668	F267L	probably benign	Het
Usb1	T	G	8: 95,344,046	L200R	probably damaging	Het
Vwa5a	G	A	9: 38,733,878	G420R	probably null	Het
Vwa8	T	C	14: 79,092,403		probably null	Het
Zfp708	A	T	13: 67,070,972	Y229*	probably null	Het
Zzef1	T	A	11: 72,884,416	M1745K	probably 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
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
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'- GCAGACAATGGCTTCAGCTG -3'
(R):5'- CTGGAGATGCTGCTGGAAAG -3'

Sequencing Primer
(F):5'- ACATTTTGAGGGGACACAGTTCC -3'
(R):5'- GGAGGAAGCAGACCTATCCATC -3'

Posted On

2014-10-15