Mutagenetix > Incidental Mutation

Incidental Mutation 'R7040:Nt5c2'

547033

Institutional Source

Beutler Lab

Gene Symbol

Nt5c2

Ensembl Gene

ENSMUSG00000025041

Gene Name

5'-nucleotidase, cytosolic II

Synonyms

cN-II, PNT5, NT5B

MMRRC Submission

045013-MU

Accession Numbers

Essential gene?

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

Stock #

R7040 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46873829-47003613 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46881974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 291 (F291Y)

Ref Sequence

ENSEMBL: ENSMUSP00000084180 (fasta)

Gene Model

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

AlphaFold

Q3V1L4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086961
AA Change: F291Y

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000084180
Gene: ENSMUSG00000025041
AA Change: F291Y

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: F266Y

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000129126
Gene: ENSMUSG00000025041
AA Change: F266Y

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: F292Y

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000130898
Gene: ENSMUSG00000025041
AA Change: F292Y

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	G	7: 127,835,897 (GRCm39)	L232P	possibly damaging	Het
Acaa1a	T	C	9: 119,178,104 (GRCm39)	V312A	probably damaging	Het
Bmp2	A	G	2: 133,403,604 (GRCm39)	D385G	probably damaging	Het
C1qtnf9	T	C	14: 61,017,241 (GRCm39)	V257A	probably damaging	Het
Cd3d	G	A	9: 44,896,991 (GRCm39)	V122I	probably damaging	Het
Cdc37	T	C	9: 21,053,519 (GRCm39)	E199G	probably damaging	Het
Crb2	T	A	2: 37,677,696 (GRCm39)	D326E	probably benign	Het
Cyp2c29	A	C	19: 39,318,781 (GRCm39)	K420N	possibly damaging	Het
Cyp2g1	A	C	7: 26,520,184 (GRCm39)	D472A	probably damaging	Het
Dab2	A	C	15: 6,451,732 (GRCm39)	H116P	probably damaging	Het
Dnah7b	G	C	1: 46,275,969 (GRCm39)	E2619Q	probably benign	Het
Dsg4	A	T	18: 20,584,909 (GRCm39)	M208L	probably benign	Het
Eif4enif1	T	G	11: 3,184,040 (GRCm39)	V521G	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fpr-rs6	A	G	17: 20,403,196 (GRCm39)	M55T	probably damaging	Het
Grhpr	A	G	4: 44,985,362 (GRCm39)	S101G	probably damaging	Het
Kif15	T	A	9: 122,840,679 (GRCm39)	D33E	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lama4	A	G	10: 38,936,158 (GRCm39)	Q611R	possibly damaging	Het
Lrrc47	T	A	4: 154,104,909 (GRCm39)	*123R	probably null	Het
Map4k3	A	C	17: 80,988,344 (GRCm39)	V36G	probably damaging	Het
Mme	T	A	3: 63,276,344 (GRCm39)	I707N	probably damaging	Het
Muc2	A	G	7: 141,305,194 (GRCm39)	E166G	unknown	Het
Mucl1	T	A	15: 103,783,844 (GRCm39)	T108S	possibly damaging	Het
Myo1h	A	T	5: 114,497,805 (GRCm39)	D53V	possibly damaging	Het
Naa15	T	A	3: 51,380,205 (GRCm39)	L811Q	possibly damaging	Het
Nalcn	T	C	14: 123,525,267 (GRCm39)	T1487A	probably benign	Het
Nme8	A	T	13: 19,878,498 (GRCm39)	L87H	probably damaging	Het
Nr2e1	A	G	10: 42,444,374 (GRCm39)	V245A	probably damaging	Het
Ooep	T	C	9: 78,285,683 (GRCm39)	N43S	possibly damaging	Het
Or10ak13	T	C	4: 118,639,183 (GRCm39)	M200V	probably benign	Het
Or4e1	T	C	14: 52,700,932 (GRCm39)	D178G	possibly damaging	Het
Or52i2	A	T	7: 102,319,937 (GRCm39)	Q270L	probably benign	Het
Or52n2c	A	T	7: 104,574,717 (GRCm39)	C85S	probably benign	Het
Ovch2	A	T	7: 107,395,772 (GRCm39)	I82N	probably damaging	Het
Palb2	A	T	7: 121,713,622 (GRCm39)	M524K	possibly damaging	Het
Patj	T	C	4: 98,329,317 (GRCm39)	S524P	probably benign	Het
Patl1	T	A	19: 11,907,318 (GRCm39)	Y401N	possibly damaging	Het
Pcdhb20	A	T	18: 37,637,770 (GRCm39)	T99S	probably benign	Het
Plcb4	G	A	2: 135,774,182 (GRCm39)	A155T	probably benign	Het
Rpap3	A	G	15: 97,576,993 (GRCm39)	V585A	possibly damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spen	T	A	4: 141,221,693 (GRCm39)	T302S	unknown	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Ube2o	T	C	11: 116,432,686 (GRCm39)	E760G	probably benign	Het
Uimc1	T	A	13: 55,223,267 (GRCm39)		probably null	Het
Usp16	C	T	16: 87,277,817 (GRCm39)	A689V	probably damaging	Het
Vmn2r60	G	A	7: 41,791,666 (GRCm39)	A530T	probably benign	Het
Vps8	T	A	16: 21,393,772 (GRCm39)	M1185K	probably damaging	Het
Vwa8	T	C	14: 79,149,645 (GRCm39)	S136P	probably damaging	Het
Ythdc2	A	G	18: 44,967,529 (GRCm39)	N175S	probably benign	Het
Zfp160	A	T	17: 21,246,794 (GRCm39)	H448L	probably damaging	Het
Zfp90	T	A	8: 107,151,641 (GRCm39)	C451*	probably null	Het
Zfp945	A	G	17: 23,071,264 (GRCm39)	C212R	probably damaging	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
R5226:Nt5c2	UTSW	19	46,887,068 (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
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'- AGCCTCTTTCTCGGTGCAAC -3'
(R):5'- GTGCCTTTGCCTGATGAAGC -3'

Sequencing Primer
(F):5'- TGTCAAGGATGTCCACATGAC -3'
(R):5'- CCTTTGCCTGATGAAGCATTAG -3'

Posted On

2019-05-13