Mutagenetix > Incidental Mutation

Incidental Mutation 'R5226:Nt5c2'

402649

Institutional Source

Beutler Lab

Gene Symbol

Nt5c2

Ensembl Gene

ENSMUSG00000025041

Gene Name

5'-nucleotidase, cytosolic II

Synonyms

cN-II, PNT5, NT5B

MMRRC Submission

042799-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.323) question?

Stock #

R5226 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46873829-47003613 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 46887068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 203 (Y203D)

Ref Sequence

ENSEMBL: ENSMUSP00000084180 (fasta)

Gene Model

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

AlphaFold

Q3V1L4

Predicted Effect

probably damaging
Transcript: ENSMUST00000086961
AA Change: Y203D

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

SMART Domains

Protein: ENSMUSP00000084180
Gene: ENSMUSG00000025041
AA Change: Y203D

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 damaging
Transcript: ENSMUST00000168536
AA Change: Y178D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129126
Gene: ENSMUSG00000025041
AA Change: Y178D

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 damaging
Transcript: ENSMUST00000172239
AA Change: Y204D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130898
Gene: ENSMUSG00000025041
AA Change: Y204D

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

unknown
Transcript: ENSMUST00000174731
AA Change: Y14D

Meta Mutation Damage Score

0.9320

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (66/66)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,056,706 (GRCm39)	K98E	possibly damaging	Het
4933414I15Rik	A	T	11: 50,833,416 (GRCm39)	M62K	unknown	Het
Akr1d1	T	A	6: 37,512,949 (GRCm39)		probably null	Het
Ankrd63	T	C	2: 118,533,736 (GRCm39)		probably benign	Het
Atad5	T	C	11: 79,985,888 (GRCm39)	V325A	probably damaging	Het
Atp13a5	G	T	16: 29,067,031 (GRCm39)	N1025K	probably damaging	Het
Atrnl1	G	T	19: 57,638,767 (GRCm39)	V302L	probably benign	Het
Bend7	C	A	2: 4,757,789 (GRCm39)	S277*	probably null	Het
Btnl7-ps	A	T	17: 34,752,261 (GRCm39)		noncoding transcript	Het
Cbx4	T	C	11: 118,972,754 (GRCm39)	Y207C	probably damaging	Het
Ctla2b	C	T	13: 61,044,146 (GRCm39)	W63*	probably null	Het
Cux1	T	C	5: 136,399,027 (GRCm39)	T170A	probably benign	Het
Cyp3a57	T	C	5: 145,302,507 (GRCm39)	V101A	probably benign	Het
Dao	A	T	5: 114,159,094 (GRCm39)	T267S	probably benign	Het
Dsp	A	G	13: 38,370,746 (GRCm39)	D883G	probably damaging	Het
Dynlt4	A	G	4: 116,985,290 (GRCm39)	T38A	possibly damaging	Het
Eif4g3	C	A	4: 137,824,105 (GRCm39)	P36T	possibly damaging	Het
Elf3	G	A	1: 135,184,977 (GRCm39)	L70F	probably benign	Het
Epb41l4a	C	T	18: 33,943,366 (GRCm39)	D510N	probably damaging	Het
Gcn1	T	C	5: 115,726,126 (GRCm39)	S594P	probably benign	Het
Gm10722	T	C	9: 3,000,937 (GRCm39)	C6R	probably benign	Het
Gpr132	T	C	12: 112,815,768 (GRCm39)	T353A	probably benign	Het
Kntc1	A	G	5: 123,932,235 (GRCm39)	D1343G	probably benign	Het
L3mbtl4	T	A	17: 69,071,717 (GRCm39)		probably null	Het
Lrit2	A	G	14: 36,794,310 (GRCm39)	E458G	probably damaging	Het
Man1c1	A	T	4: 134,305,680 (GRCm39)	I348N	probably damaging	Het
Map4k2	A	G	19: 6,396,534 (GRCm39)		probably benign	Het
Oxgr1	A	G	14: 120,259,665 (GRCm39)	S181P	probably damaging	Het
Parn	A	G	16: 13,443,416 (GRCm39)	C400R	probably benign	Het
Pcdhgb7	T	C	18: 37,885,577 (GRCm39)	V249A	probably benign	Het
Pdzrn3	C	T	6: 101,130,272 (GRCm39)	D515N	probably damaging	Het
Plcg2	A	T	8: 118,304,613 (GRCm39)	I273F	possibly damaging	Het
Plin1	A	G	7: 79,372,447 (GRCm39)	V64A	probably damaging	Het
Ppfia4	C	A	1: 134,232,024 (GRCm39)		probably null	Het
Prkg2	A	C	5: 99,124,321 (GRCm39)	D376E	possibly damaging	Het
Ptgir	T	A	7: 16,642,645 (GRCm39)	I82N	probably damaging	Het
Pum2	C	T	12: 8,763,458 (GRCm39)	P205L	possibly damaging	Het
Rab26	T	A	17: 24,753,107 (GRCm39)		probably benign	Het
Recql4	T	C	15: 76,594,329 (GRCm39)	E63G	probably benign	Het
Rora	T	A	9: 69,271,423 (GRCm39)		probably benign	Het
Rp1	A	C	1: 4,418,256 (GRCm39)	M952R	probably benign	Het
Rpap3	T	A	15: 97,601,104 (GRCm39)	R44S	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Slc12a2	C	A	18: 58,012,092 (GRCm39)	P72T	probably damaging	Het
Slc1a3	C	T	15: 8,671,709 (GRCm39)	V416M	probably damaging	Het
Slfn4	A	T	11: 83,078,375 (GRCm39)	M388L	possibly damaging	Het
Snrnp48	G	A	13: 38,389,093 (GRCm39)	A49T	probably benign	Het
Tlx2	C	T	6: 83,045,911 (GRCm39)	G228D	possibly damaging	Het
Tmem132a	A	G	19: 10,844,508 (GRCm39)	V30A	possibly damaging	Het
Tnfrsf23	C	A	7: 143,239,522 (GRCm39)	L24F	possibly damaging	Het
Ubr2	A	T	17: 47,294,196 (GRCm39)	N312K	probably benign	Het
Vmn1r115	C	T	7: 20,578,169 (GRCm39)	V248I	probably damaging	Het
Vmn2r80	A	G	10: 79,029,874 (GRCm39)	T567A	probably benign	Het
Vps13c	A	G	9: 67,852,835 (GRCm39)	T2372A	probably benign	Het
Wnt10b	G	T	15: 98,674,495 (GRCm39)	H81N	probably damaging	Het
Zfp948	A	G	17: 21,808,505 (GRCm39)	T566A	probably benign	Het

Other mutations in Nt5c2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Nt5c2	APN	19	46,884,954 (GRCm39)	missense	possibly damaging	0.91
IGL00814:Nt5c2	APN	19	46,886,087 (GRCm39)	missense	probably benign	0.02
IGL02347:Nt5c2	APN	19	46,912,695 (GRCm39)	splice site	probably benign
IGL02630:Nt5c2	APN	19	46,912,749 (GRCm39)	missense	probably benign	0.00
tightrope	UTSW	19	46,912,766 (GRCm39)	missense	probably damaging	1.00
R0565:Nt5c2	UTSW	19	46,886,064 (GRCm39)	missense	probably damaging	0.99
R0825:Nt5c2	UTSW	19	46,887,344 (GRCm39)	unclassified	probably benign
R0980:Nt5c2	UTSW	19	46,887,317 (GRCm39)	missense	probably benign
R1496:Nt5c2	UTSW	19	46,893,417 (GRCm39)	missense	probably damaging	1.00
R2394:Nt5c2	UTSW	19	46,878,506 (GRCm39)	critical splice donor site	probably null
R3854:Nt5c2	UTSW	19	46,884,957 (GRCm39)	missense	probably damaging	1.00
R3855:Nt5c2	UTSW	19	46,884,957 (GRCm39)	missense	probably damaging	1.00
R3856:Nt5c2	UTSW	19	46,884,957 (GRCm39)	missense	probably damaging	1.00
R4534:Nt5c2	UTSW	19	46,880,100 (GRCm39)	missense	probably damaging	1.00
R4907:Nt5c2	UTSW	19	46,884,978 (GRCm39)	missense	possibly damaging	0.71
R5122:Nt5c2	UTSW	19	46,878,360 (GRCm39)	missense	probably damaging	1.00
R5203:Nt5c2	UTSW	19	46,878,247 (GRCm39)	missense	probably damaging	1.00
R5254:Nt5c2	UTSW	19	46,881,999 (GRCm39)	nonsense	probably null
R5315:Nt5c2	UTSW	19	46,880,682 (GRCm39)	missense	probably damaging	1.00
R6401:Nt5c2	UTSW	19	46,878,250 (GRCm39)	missense	probably benign	0.11
R6784:Nt5c2	UTSW	19	46,912,766 (GRCm39)	missense	probably damaging	1.00
R7040:Nt5c2	UTSW	19	46,881,974 (GRCm39)	missense	possibly damaging	0.52
R7414:Nt5c2	UTSW	19	46,878,328 (GRCm39)	missense	probably damaging	1.00
R7792:Nt5c2	UTSW	19	46,878,385 (GRCm39)	missense	probably benign	0.02
R7793:Nt5c2	UTSW	19	46,880,020 (GRCm39)	missense	probably benign	0.23
R8380:Nt5c2	UTSW	19	46,877,489 (GRCm39)	missense	probably damaging	1.00
R8954:Nt5c2	UTSW	19	46,877,361 (GRCm39)	missense	probably damaging	0.98
R9429:Nt5c2	UTSW	19	46,877,459 (GRCm39)	missense	probably benign	0.08
R9623:Nt5c2	UTSW	19	46,877,409 (GRCm39)	missense
X0028:Nt5c2	UTSW	19	46,880,054 (GRCm39)	missense	probably damaging	1.00
X0065:Nt5c2	UTSW	19	46,878,527 (GRCm39)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- CCTGGGAATGAAGCTACATGAG -3'
(R):5'- GTAGACACCTCTGCTTACTCTG -3'

Sequencing Primer
(F):5'- AGTGGTCCCTTCCAAACATGG -3'
(R):5'- GCTTACTCTGCACACTGCC -3'

Posted On

2016-07-22