Mutagenetix > Incidental Mutation

Incidental Mutation 'R6389:Nt5e'

515699

Institutional Source

Beutler Lab

Gene Symbol

Nt5e

Ensembl Gene

ENSMUSG00000032420

Gene Name

5' nucleotidase, ecto

Synonyms

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

MMRRC Submission

044538-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88209662-88254142 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88245524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 265 (Y265H)

Ref Sequence

ENSEMBL: ENSMUSP00000034992 (fasta)

Gene Model

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

AlphaFold

Q61503

Predicted Effect

probably damaging
Transcript: ENSMUST00000034992
AA Change: Y265H

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

SMART Domains

Protein: ENSMUSP00000034992
Gene: ENSMUSG00000032420
AA Change: Y265H

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

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.9%

Validation Efficiency

100% (57/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	C	7: 43,147,254 (GRCm39)	L326R	possibly damaging	Het
Abcb11	A	T	2: 69,154,238 (GRCm39)	N109K	probably damaging	Het
Actn1	T	A	12: 80,221,296 (GRCm39)	M586L	probably benign	Het
Ago4	T	A	4: 126,401,037 (GRCm39)	I603F	probably damaging	Het
Bicc1	A	T	10: 70,794,752 (GRCm39)	V135D	probably damaging	Het
Bms1	T	C	6: 118,380,196 (GRCm39)	N704D	possibly damaging	Het
Cadm4	A	C	7: 24,198,959 (GRCm39)	Q78P	probably benign	Het
Cfap74	T	C	4: 155,507,793 (GRCm39)	I248T	possibly damaging	Het
Clu	G	C	14: 66,208,771 (GRCm39)		probably benign	Het
Cnnm3	T	C	1: 36,559,603 (GRCm39)	V514A	probably damaging	Het
Cntd1	A	T	11: 101,176,577 (GRCm39)	I225F	probably damaging	Het
Col20a1	T	C	2: 180,634,376 (GRCm39)		probably null	Het
Ctnnal1	A	G	4: 56,813,849 (GRCm39)	V640A	probably benign	Het
Cul4a	A	G	8: 13,190,278 (GRCm39)	T572A	probably benign	Het
D16Ertd472e	A	G	16: 78,342,071 (GRCm39)	S270P	probably damaging	Het
Dmp1	A	T	5: 104,360,788 (GRCm39)	N488I	probably damaging	Het
Dnah14	G	A	1: 181,478,767 (GRCm39)		probably null	Het
Dst	T	C	1: 34,232,265 (GRCm39)	L3464P	probably damaging	Het
Fnbp4	C	T	2: 90,575,879 (GRCm39)	P27S	unknown	Het
Fpr-rs3	A	T	17: 20,844,230 (GRCm39)	F304I	probably damaging	Het
Gm13941	T	C	2: 110,928,734 (GRCm39)	Q108R	unknown	Het
Hcn3	C	T	3: 89,058,240 (GRCm39)	A339T	possibly damaging	Het
Inpp5f	A	G	7: 128,279,780 (GRCm39)	D460G	probably damaging	Het
Ism2	T	C	12: 87,329,145 (GRCm39)	E253G	possibly damaging	Het
Klrg1	T	C	6: 122,248,431 (GRCm39)	N156S	probably damaging	Het
Ksr2	A	G	5: 117,552,907 (GRCm39)	N5S	probably benign	Het
Lrrc7	T	G	3: 157,891,063 (GRCm39)	E368A	probably damaging	Het
Ly9	G	C	1: 171,424,105 (GRCm39)	S482C	probably damaging	Het
Map3k1	T	C	13: 111,905,975 (GRCm39)	D289G	probably damaging	Het
Mcub	T	C	3: 129,712,357 (GRCm39)	T173A	probably benign	Het
Mup16	T	C	4: 61,437,177 (GRCm39)	E48G	probably damaging	Het
Naf1	C	T	8: 67,313,680 (GRCm39)	S24L	possibly damaging	Het
Ncoa6	A	G	2: 155,237,736 (GRCm39)	S2024P	probably damaging	Het
Nop56	C	A	2: 130,119,807 (GRCm39)	Q83K	probably damaging	Het
Odad1	G	T	7: 45,597,940 (GRCm39)	V617F	probably benign	Het
Or4a27	A	G	2: 88,559,016 (GRCm39)	V309A	probably benign	Het
Or52p2	A	T	7: 102,237,679 (GRCm39)	N90K	probably benign	Het
Or5w8	C	T	2: 87,688,367 (GRCm39)	P283S	probably damaging	Het
Oxct2a	T	A	4: 123,217,220 (GRCm39)	K54*	probably null	Het
Oxct2b	G	T	4: 123,010,367 (GRCm39)	D96Y	probably benign	Het
Pisd	A	G	5: 32,922,191 (GRCm39)	Y250H	probably damaging	Het
Plekhm1	G	T	11: 103,257,720 (GRCm39)	N1071K	probably benign	Het
Prr11	G	A	11: 86,989,564 (GRCm39)	T269I	possibly damaging	Het
Ptpn4	T	A	1: 119,649,684 (GRCm39)	H304L	probably damaging	Het
Rrp1b	A	G	17: 32,275,601 (GRCm39)	K383E	possibly damaging	Het
Sel1l2	C	A	2: 140,087,274 (GRCm39)	A466S	probably damaging	Het
Slc9a4	A	G	1: 40,619,844 (GRCm39)	I57V	probably benign	Het
Spag9	A	G	11: 93,977,137 (GRCm39)	E81G	probably damaging	Het
Tbr1	A	G	2: 61,636,631 (GRCm39)		probably benign	Het
Tnrc6c	A	G	11: 117,613,567 (GRCm39)	D735G	probably damaging	Het
Tspan17	A	T	13: 54,943,429 (GRCm39)		probably null	Het
Tyw5	T	C	1: 57,430,658 (GRCm39)	K175R	probably damaging	Het
Ube2o	A	C	11: 116,439,684 (GRCm39)	I162R	probably null	Het
Ubr1	G	T	2: 120,711,520 (GRCm39)	T1458K	probably benign	Het
Vmn2r16	A	T	5: 109,478,344 (GRCm39)	Q33L	probably benign	Het
Zfp1007	G	A	5: 109,823,885 (GRCm39)	P522S	possibly damaging	Het
Zfp799	A	G	17: 33,039,552 (GRCm39)	L238P	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
R5039:Nt5e	UTSW	9	88,245,634 (GRCm39)	missense	probably benign	0.00
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
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'- GCCCACTGAGTAGAGAATGG -3'
(R):5'- TCTCACCTTCAGGAATGCTGC -3'

Sequencing Primer
(F):5'- TTGGAGTCAGTGACAAATGTCCC -3'
(R):5'- CACCTTCAGGAATGCTGCTGTTG -3'

Posted On

2018-05-04