Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02015:Nt5e'

183695

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nt5e

Ensembl Gene

ENSMUSG00000032420

Gene Name

5' nucleotidase, ecto

Synonyms

ecto-5'-nucleotidase, CD73, Nt5, 2210401F01Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02015

Quality Score

Status

Chromosome

Chromosomal Location

88327197-88372092 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88367237 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 408 (I408T)

Ref Sequence

ENSEMBL: ENSMUSP00000034992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034992]

Predicted Effect

probably damaging
Transcript: ENSMUST00000034992
AA Change: I408T

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

SMART Domains

Protein: ENSMUSP00000034992
Gene: ENSMUSG00000032420
AA Change: I408T

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:Metallophos	31	248	2.1e-15	PFAM
Pfam:5_nucleotid_C	340	515	4.9e-45	PFAM
transmembrane domain	553	575	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187166

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a membrane-bound nucleotidase that hydrolyzes extracellular nucleoside monophosphates. The encoded preproprotein undergoes proteolytic processing to generate to a functional, homodimeric enzyme that preferentially uses adenosine monophosphate as a substrate to generate free adenosine. Mice lacking the encoded protein exhibit a significantly reduced fall in stop flow pressure and superficial nephron glomerular filtration rate in response to a saturating increase of tubular perfusion flow. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous null mice for one allele are viable and fertile with increased circulating alkaline phosphatase and impaired tubuloglomerular feedback regulation. Homozygous null mice for a second allele display increased vascular permeability especially under hypoxic conditions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcl9l	C	A	9: 44,508,801		probably null	Het
C1qtnf12	A	G	4: 155,962,744		probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
D430041D05Rik	A	G	2: 104,230,404	Y1382H	probably damaging	Het
Fut1	A	T	7: 45,618,975	M118L	probably damaging	Het
Fzd5	A	T	1: 64,736,342	C87S	probably damaging	Het
Gmcl1	A	G	6: 86,707,457	V361A	possibly damaging	Het
Inpp4a	T	G	1: 37,389,712	F700V	probably damaging	Het
Klk1b21	A	T	7: 44,104,358	Q22L	probably benign	Het
Lrp2	T	A	2: 69,527,578	Q369L	probably benign	Het
Mtor	C	T	4: 148,540,113	Q2117*	probably null	Het
Naip2	A	T	13: 100,161,607	S640R	possibly damaging	Het
Olfr509	T	A	7: 108,646,013	N188Y	probably damaging	Het
Olfr572	G	A	7: 102,928,192	R188H	probably benign	Het
Olfr924	T	C	9: 38,848,794	S227P	probably damaging	Het
Plxna1	A	G	6: 89,342,451	L590P	probably damaging	Het
Ppp1r35	T	C	5: 137,780,031		probably benign	Het
Prmt2	G	A	10: 76,226,255	Q39*	probably null	Het
Ptprg	A	T	14: 12,237,782	N1413I	possibly damaging	Het
Ranbp10	C	A	8: 105,779,990	G233C	probably damaging	Het
Rapgef2	A	G	3: 79,092,064		probably benign	Het
Rilpl2	T	C	5: 124,469,813	T115A	probably benign	Het
Scaf4	T	C	16: 90,258,846	S108G	unknown	Het
Scn10a	C	T	9: 119,664,951	V430M	probably benign	Het
Sf3b3	T	C	8: 110,816,290	E845G	possibly damaging	Het
Skint2	C	T	4: 112,624,128	R63*	probably null	Het
Slc35b4	A	T	6: 34,170,548	V35D	probably damaging	Het
Slc6a3	A	T	13: 73,544,714	Y151F	possibly damaging	Het
Susd1	G	A	4: 59,315,745	T689I	possibly damaging	Het
Tbx21	T	C	11: 97,098,914	D484G	probably benign	Het
Tln2	C	T	9: 67,361,439		probably benign	Het
Traf3	A	G	12: 111,252,740	N242S	probably benign	Het
Xiap	T	A	X: 42,096,610		probably benign	Het
Zcchc6	A	G	13: 59,789,258	Y790H	probably damaging	Het

Other mutations in Nt5e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01794:Nt5e	APN	9	88367298	missense	probably damaging	0.97
IGL02351:Nt5e	APN	9	88327893	missense	probably damaging	1.00
IGL02358:Nt5e	APN	9	88327893	missense	probably damaging	1.00
IGL02826:Nt5e	APN	9	88355705	missense	probably damaging	0.97
IGL03237:Nt5e	APN	9	88355734	missense	probably damaging	1.00
R0092:Nt5e	UTSW	9	88370285	missense	probably benign	0.00
R0238:Nt5e	UTSW	9	88367332	missense	possibly damaging	0.81
R0238:Nt5e	UTSW	9	88367332	missense	possibly damaging	0.81
R0557:Nt5e	UTSW	9	88366466	missense	probably damaging	1.00
R1727:Nt5e	UTSW	9	88328029	missense	possibly damaging	0.87
R1834:Nt5e	UTSW	9	88370187	missense	probably damaging	1.00
R2361:Nt5e	UTSW	9	88370237	missense	possibly damaging	0.67
R3871:Nt5e	UTSW	9	88364693	missense	probably benign	0.04
R4990:Nt5e	UTSW	9	88355593	missense	probably benign	0.03
R5039:Nt5e	UTSW	9	88363581	missense	probably benign	0.00
R5642:Nt5e	UTSW	9	88327687	start codon destroyed	probably null	0.02
R5812:Nt5e	UTSW	9	88369055	missense	probably damaging	1.00
R6389:Nt5e	UTSW	9	88363471	missense	probably damaging	1.00
R7003:Nt5e	UTSW	9	88364752	missense	probably damaging	1.00
R8325:Nt5e	UTSW	9	88363562	missense	probably benign	0.16

Posted On

2014-05-07