Mutagenetix > Incidental Mutation

Incidental Mutation 'R5039:Nt5e'

395710

Institutional Source

Beutler Lab

Gene Symbol

Nt5e

Ensembl Gene

ENSMUSG00000032420

Gene Name

5' nucleotidase, ecto

Synonyms

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

MMRRC Submission

042629-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5039 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88209662-88254142 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88245634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 301 (N301K)

Ref Sequence

ENSEMBL: ENSMUSP00000034992 (fasta)

Gene Model

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

AlphaFold

Q61503

Predicted Effect

probably benign
Transcript: ENSMUST00000034992
AA Change: N301K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000034992
Gene: ENSMUSG00000032420
AA Change: N301K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (61/61)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	G	A	9: 44,192,863 (GRCm39)	A161V	probably damaging	Het
Anapc2	T	C	2: 25,164,808 (GRCm39)	I64T	possibly damaging	Het
Arfgef1	T	C	1: 10,269,961 (GRCm39)	D396G	probably benign	Het
Ark2c	A	G	18: 77,550,608 (GRCm39)	S107P	probably damaging	Het
Axl	C	T	7: 25,485,340 (GRCm39)	V163M	probably damaging	Het
Blm	G	A	7: 80,155,621 (GRCm39)	P353S	possibly damaging	Het
Btaf1	T	C	19: 36,968,162 (GRCm39)	Y1116H	probably benign	Het
Ccdc18	T	A	5: 108,306,514 (GRCm39)		probably null	Het
Ccdc87	T	C	19: 4,890,429 (GRCm39)		probably null	Het
Cdhr1	T	C	14: 36,801,600 (GRCm39)	N781S	probably benign	Het
Ctr9	C	A	7: 110,642,064 (GRCm39)	H297Q	probably benign	Het
Cyp2c55	A	G	19: 39,026,587 (GRCm39)	D398G	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dnmt3l	T	C	10: 77,888,734 (GRCm39)		probably null	Het
Dock4	C	A	12: 40,867,745 (GRCm39)	N1440K	probably damaging	Het
Etnk1	T	A	6: 143,141,043 (GRCm39)		probably null	Het
Fam120a	A	T	13: 49,063,726 (GRCm39)		probably null	Het
Fanca	T	C	8: 124,010,785 (GRCm39)	D908G	probably benign	Het
Gm17535	T	A	9: 3,035,786 (GRCm39)	L218H	probably benign	Het
Gm3633	A	C	14: 42,461,161 (GRCm39)	N42K	possibly damaging	Het
Gm4781	C	A	10: 100,232,851 (GRCm39)		noncoding transcript	Het
Gm8741	G	T	17: 35,555,062 (GRCm39)		noncoding transcript	Het
Gpr139	A	G	7: 118,744,165 (GRCm39)	V140A	probably benign	Het
Ighv1-62-3	G	T	12: 115,425,014 (GRCm39)	T13K	probably benign	Het
Itgb2l	T	C	16: 96,226,205 (GRCm39)	T629A	possibly damaging	Het
Kcnb2	T	C	1: 15,779,724 (GRCm39)	S199P	probably damaging	Het
Kdm1b	G	A	13: 47,230,962 (GRCm39)	G663D	probably damaging	Het
Lama1	A	G	17: 68,052,888 (GRCm39)	D407G	possibly damaging	Het
Macf1	T	C	4: 123,405,013 (GRCm39)	K391R	probably damaging	Het
Magi3	A	T	3: 104,013,107 (GRCm39)	S127T	probably damaging	Het
Map2	A	T	1: 66,477,955 (GRCm39)	D1759V	probably damaging	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Myrfl	T	C	10: 116,658,616 (GRCm39)	D447G	probably damaging	Het
Ndufb7	A	G	8: 84,298,094 (GRCm39)		probably benign	Het
Or10d4b	A	T	9: 39,534,856 (GRCm39)	T146S	possibly damaging	Het
Or8g27	T	A	9: 39,129,410 (GRCm39)	Y252*	probably null	Het
Pcdh10	A	G	3: 45,336,296 (GRCm39)	N870S	probably damaging	Het
Pcdh18	A	G	3: 49,709,305 (GRCm39)	V670A	probably benign	Het
Phf8-ps	A	C	17: 33,286,734 (GRCm39)	C23G	probably damaging	Het
Polr1c	G	T	17: 46,558,635 (GRCm39)		probably benign	Het
Ric3	G	C	7: 108,637,930 (GRCm39)	S274R	probably benign	Het
Rimbp3	A	G	16: 17,031,195 (GRCm39)	T1540A	probably damaging	Het
Rp1l1	A	T	14: 64,268,805 (GRCm39)	M1464L	probably benign	Het
Slc41a3	A	G	6: 90,603,399 (GRCm39)	Y140C	probably damaging	Het
Ssb	A	T	2: 69,696,581 (GRCm39)	E38D	possibly damaging	Het
Syt14	A	T	1: 192,709,292 (GRCm39)	I16N	probably damaging	Het
Tet3	T	C	6: 83,352,878 (GRCm39)	T973A	probably damaging	Het
Tial1	T	C	7: 128,045,692 (GRCm39)		probably benign	Het
Tnfrsf1a	A	G	6: 125,337,675 (GRCm39)	T89A	possibly damaging	Het
Trpv5	T	C	6: 41,652,879 (GRCm39)	Y98C	possibly damaging	Het
Ylpm1	T	A	12: 85,062,267 (GRCm39)	S265T	probably damaging	Het
Ylpm1	A	G	12: 85,089,013 (GRCm39)	D1006G	probably damaging	Het

Other mutations in Nt5e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01794:Nt5e	APN	9	88,249,351 (GRCm39)	missense	probably damaging	0.97
IGL02015:Nt5e	APN	9	88,249,290 (GRCm39)	missense	probably damaging	1.00
IGL02351:Nt5e	APN	9	88,209,946 (GRCm39)	missense	probably damaging	1.00
IGL02358:Nt5e	APN	9	88,209,946 (GRCm39)	missense	probably damaging	1.00
IGL02826:Nt5e	APN	9	88,237,758 (GRCm39)	missense	probably damaging	0.97
IGL03237:Nt5e	APN	9	88,237,787 (GRCm39)	missense	probably damaging	1.00
R0092:Nt5e	UTSW	9	88,252,338 (GRCm39)	missense	probably benign	0.00
R0238:Nt5e	UTSW	9	88,249,385 (GRCm39)	missense	possibly damaging	0.81
R0238:Nt5e	UTSW	9	88,249,385 (GRCm39)	missense	possibly damaging	0.81
R0557:Nt5e	UTSW	9	88,248,519 (GRCm39)	missense	probably damaging	1.00
R1727:Nt5e	UTSW	9	88,210,082 (GRCm39)	missense	possibly damaging	0.87
R1834:Nt5e	UTSW	9	88,252,240 (GRCm39)	missense	probably damaging	1.00
R2361:Nt5e	UTSW	9	88,252,290 (GRCm39)	missense	possibly damaging	0.67
R3871:Nt5e	UTSW	9	88,246,746 (GRCm39)	missense	probably benign	0.04
R4990:Nt5e	UTSW	9	88,237,646 (GRCm39)	missense	probably benign	0.03
R5642:Nt5e	UTSW	9	88,209,740 (GRCm39)	start codon destroyed	probably null	0.02
R5812:Nt5e	UTSW	9	88,251,108 (GRCm39)	missense	probably damaging	1.00
R6389:Nt5e	UTSW	9	88,245,524 (GRCm39)	missense	probably damaging	1.00
R7003:Nt5e	UTSW	9	88,246,805 (GRCm39)	missense	probably damaging	1.00
R8325:Nt5e	UTSW	9	88,245,615 (GRCm39)	missense	probably benign	0.16
R9035:Nt5e	UTSW	9	88,246,873 (GRCm39)	missense	probably benign	0.01
R9191:Nt5e	UTSW	9	88,246,874 (GRCm39)	missense	possibly damaging	0.90
R9467:Nt5e	UTSW	9	88,249,416 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CGGACCTGATCAAATTTGCTTC -3'
(R):5'- AGAAGCTGTAGTGCACTGAGC -3'

Sequencing Primer
(F):5'- GCTTCTTTTATTTCAGGAAATCCAC -3'
(R):5'- GTGGCATTTCTTTATGAGCAAAGAG -3'

Posted On

2016-06-21