Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00814:Nt5c2'

12791

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nt5c2

Ensembl Gene

ENSMUSG00000025041

Gene Name

5'-nucleotidase, cytosolic II

Synonyms

PNT5, NT5B, cN-II

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.409) question?

Stock #

IGL00814

Quality Score

Status

Chromosome

Chromosomal Location

46886831-47015153 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46897648 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 212 (D212E)

Ref Sequence

ENSEMBL: ENSMUSP00000084180 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086961] [ENSMUST00000168536] [ENSMUST00000172239]

Predicted Effect

probably benign
Transcript: ENSMUST00000086961
AA Change: D212E

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000084180
Gene: ENSMUSG00000025041
AA Change: D212E

Domain	Start	End	E-Value	Type
Pfam:5_nucleotid	60	518	3.5e-185	PFAM
low complexity region	574	585	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168536
AA Change: D187E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000129126
Gene: ENSMUSG00000025041
AA Change: D187E

Domain	Start	End	E-Value	Type
Pfam:5_nucleotid	35	493	1.6e-185	PFAM
low complexity region	549	560	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172239
AA Change: D213E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000130898
Gene: ENSMUSG00000025041
AA Change: D213E

Domain	Start	End	E-Value	Type
low complexity region	9	20	N/A	INTRINSIC
Pfam:5_nucleotid	61	515	6.5e-179	PFAM
low complexity region	575	586	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174731

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a hydrolase that serves as an important role in cellular purine metabolism by acting primarily on inosine 5'-monophosphate and other purine nucleotides. [provided by RefSeq, Oct 2011]
PHENOTYPE: Bone marrow cells with a nucleotide substitution allele used in a transplantation experiment following tamoxifen-induction produce NOTCH1-induced tumors that are resistant to 6-mercaptopurine chemotherapy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cops6	G	T	5: 138,163,378	R58L	probably damaging	Het
Elmo1	T	A	13: 20,286,724	M262K	probably damaging	Het
Faim	G	A	9: 98,992,165	G15R	probably damaging	Het
Gria4	A	T	9: 4,472,202	M429K	probably damaging	Het
Hipk2	G	A	6: 38,818,549	R262W	probably damaging	Het
Kif23	A	T	9: 61,937,107	I143K	possibly damaging	Het
Mbtd1	T	A	11: 93,943,840	S615T	possibly damaging	Het
Nlrp9c	C	T	7: 26,384,750	S468N	probably benign	Het
Olfr596	A	T	7: 103,309,807	I29L	probably benign	Het
Pck2	T	C	14: 55,548,299		probably benign	Het
Pdcd6ip	T	C	9: 113,687,653	Q230R	probably damaging	Het
Pomk	T	C	8: 25,983,596	T110A	probably benign	Het
Psg23	C	T	7: 18,614,683	W66*	probably null	Het
Rnf144b	T	C	13: 47,220,488		probably benign	Het
Sppl2c	G	A	11: 104,186,979	G202S	possibly damaging	Het
Thnsl2	A	C	6: 71,139,883	L95R	probably damaging	Het
Ttn	A	G	2: 76,807,167	V12248A	probably benign	Het

Other mutations in Nt5c2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Nt5c2	APN	19	46896515	missense	possibly damaging	0.91
IGL02347:Nt5c2	APN	19	46924256	splice site	probably benign
IGL02630:Nt5c2	APN	19	46924310	missense	probably benign	0.00
tightrope	UTSW	19	46924327	missense	probably damaging	1.00
R0565:Nt5c2	UTSW	19	46897625	missense	probably damaging	0.99
R0825:Nt5c2	UTSW	19	46898905	unclassified	probably benign
R0980:Nt5c2	UTSW	19	46898878	missense	probably benign
R1496:Nt5c2	UTSW	19	46904978	missense	probably damaging	1.00
R2394:Nt5c2	UTSW	19	46890067	critical splice donor site	probably null
R3854:Nt5c2	UTSW	19	46896518	missense	probably damaging	1.00
R3855:Nt5c2	UTSW	19	46896518	missense	probably damaging	1.00
R3856:Nt5c2	UTSW	19	46896518	missense	probably damaging	1.00
R4534:Nt5c2	UTSW	19	46891661	missense	probably damaging	1.00
R4907:Nt5c2	UTSW	19	46896539	missense	possibly damaging	0.71
R5122:Nt5c2	UTSW	19	46889921	missense	probably damaging	1.00
R5203:Nt5c2	UTSW	19	46889808	missense	probably damaging	1.00
R5226:Nt5c2	UTSW	19	46898629	missense	probably damaging	1.00
R5254:Nt5c2	UTSW	19	46893560	nonsense	probably null
R5315:Nt5c2	UTSW	19	46892243	missense	probably damaging	1.00
R6401:Nt5c2	UTSW	19	46889811	missense	probably benign	0.11
R6784:Nt5c2	UTSW	19	46924327	missense	probably damaging	1.00
R7040:Nt5c2	UTSW	19	46893535	missense	possibly damaging	0.52
R7414:Nt5c2	UTSW	19	46889889	missense	probably damaging	1.00
R7792:Nt5c2	UTSW	19	46889946	missense	probably benign	0.02
R7793:Nt5c2	UTSW	19	46891581	missense	probably benign	0.23
X0028:Nt5c2	UTSW	19	46891615	missense	probably damaging	1.00
X0065:Nt5c2	UTSW	19	46890088	missense	possibly damaging	0.62

Posted On

2012-12-06