Incidental Mutation 'IGL02630:Nt5c2'
ID |
301255 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nt5c2
|
Ensembl Gene |
ENSMUSG00000025041 |
Gene Name |
5'-nucleotidase, cytosolic II |
Synonyms |
cN-II, PNT5, NT5B |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.323)
|
Stock # |
IGL02630
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
46873829-47003613 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 46912749 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 69
(M69L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130898
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086961]
[ENSMUST00000168536]
[ENSMUST00000172239]
|
AlphaFold |
Q3V1L4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000086961
AA Change: M68L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000084180 Gene: ENSMUSG00000025041 AA Change: M68L
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: M43L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000129126 Gene: ENSMUSG00000025041 AA Change: M43L
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: M69L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000130898 Gene: ENSMUSG00000025041 AA Change: M69L
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 |
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
T |
A |
19: 8,989,441 (GRCm39) |
V3575E |
probably damaging |
Het |
Arfgef3 |
G |
A |
10: 18,537,140 (GRCm39) |
|
probably benign |
Het |
Arhgap23 |
A |
G |
11: 97,345,123 (GRCm39) |
T631A |
probably benign |
Het |
Chka |
T |
A |
19: 3,942,112 (GRCm39) |
H355Q |
possibly damaging |
Het |
Ctsj |
C |
T |
13: 61,149,214 (GRCm39) |
A277T |
probably damaging |
Het |
Ddx49 |
T |
C |
8: 70,753,668 (GRCm39) |
D67G |
probably damaging |
Het |
Dennd4b |
T |
C |
3: 90,180,284 (GRCm39) |
S716P |
probably benign |
Het |
Enpp5 |
G |
T |
17: 44,393,766 (GRCm39) |
D321Y |
probably damaging |
Het |
Espl1 |
A |
G |
15: 102,205,253 (GRCm39) |
E17G |
probably benign |
Het |
Fam161b |
G |
A |
12: 84,400,688 (GRCm39) |
P428L |
probably benign |
Het |
Fbxw7 |
T |
C |
3: 84,872,586 (GRCm39) |
L256S |
probably damaging |
Het |
Fgfr2 |
G |
T |
7: 129,830,525 (GRCm39) |
|
probably null |
Het |
Foxred2 |
C |
T |
15: 77,831,362 (GRCm39) |
V484I |
probably benign |
Het |
Gm4744 |
T |
A |
6: 40,927,403 (GRCm39) |
|
probably benign |
Het |
H3c1 |
C |
T |
13: 23,946,231 (GRCm39) |
V36M |
probably benign |
Het |
Hipk2 |
T |
C |
6: 38,795,456 (GRCm39) |
N271S |
possibly damaging |
Het |
Ifna1 |
A |
G |
4: 88,768,496 (GRCm39) |
D58G |
possibly damaging |
Het |
Igkv4-80 |
A |
T |
6: 68,993,680 (GRCm39) |
Y70* |
probably null |
Het |
Ivns1abp |
G |
A |
1: 151,235,386 (GRCm39) |
R218H |
probably damaging |
Het |
Kng1 |
A |
T |
16: 22,898,595 (GRCm39) |
|
probably benign |
Het |
Lars1 |
T |
C |
18: 42,390,234 (GRCm39) |
D11G |
probably damaging |
Het |
Lgals12 |
T |
C |
19: 7,578,607 (GRCm39) |
|
probably benign |
Het |
Lpar4 |
T |
A |
X: 105,974,817 (GRCm39) |
F334I |
probably benign |
Het |
Muc5b |
G |
A |
7: 141,416,968 (GRCm39) |
G3305S |
probably benign |
Het |
Nalcn |
T |
C |
14: 123,555,291 (GRCm39) |
D864G |
probably benign |
Het |
Ndor1 |
T |
C |
2: 25,145,299 (GRCm39) |
E22G |
probably damaging |
Het |
Or52ab4 |
A |
C |
7: 102,987,636 (GRCm39) |
Y125S |
probably damaging |
Het |
Or8k22 |
T |
C |
2: 86,163,212 (GRCm39) |
I163V |
probably benign |
Het |
Pde12 |
A |
T |
14: 26,387,552 (GRCm39) |
H455Q |
probably damaging |
Het |
Pdia6 |
A |
G |
12: 17,324,422 (GRCm39) |
H91R |
probably benign |
Het |
Pdk4 |
A |
T |
6: 5,491,671 (GRCm39) |
I179K |
possibly damaging |
Het |
Prl2c1 |
T |
C |
13: 28,041,480 (GRCm39) |
|
probably benign |
Het |
Rasgrf2 |
C |
T |
13: 92,267,900 (GRCm39) |
E35K |
probably damaging |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Sash1 |
T |
A |
10: 8,620,299 (GRCm39) |
M454L |
probably benign |
Het |
Secisbp2 |
C |
A |
13: 51,832,942 (GRCm39) |
T608K |
possibly damaging |
Het |
Slco1a7 |
T |
C |
6: 141,668,836 (GRCm39) |
Y532C |
probably damaging |
Het |
Slmap |
A |
G |
14: 26,143,586 (GRCm39) |
V750A |
possibly damaging |
Het |
Spaca6 |
T |
A |
17: 18,051,351 (GRCm39) |
L9Q |
probably damaging |
Het |
Sycp1 |
T |
C |
3: 102,786,080 (GRCm39) |
|
probably benign |
Het |
Sycp2 |
A |
T |
2: 178,043,712 (GRCm39) |
D131E |
probably damaging |
Het |
Tc2n |
A |
T |
12: 101,659,404 (GRCm39) |
D176E |
probably damaging |
Het |
Thoc7 |
T |
C |
14: 13,953,154 (GRCm38) |
I83V |
probably damaging |
Het |
Trank1 |
T |
C |
9: 111,202,143 (GRCm39) |
V1590A |
possibly damaging |
Het |
Tyrp1 |
T |
C |
4: 80,758,994 (GRCm39) |
V289A |
possibly damaging |
Het |
Ube2dnl1 |
T |
A |
X: 113,815,483 (GRCm39) |
C119* |
probably null |
Het |
Vmn1r191 |
T |
A |
13: 22,363,431 (GRCm39) |
I108F |
possibly damaging |
Het |
Zfp710 |
T |
A |
7: 79,731,789 (GRCm39) |
I322N |
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 |
|
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 |
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 |
|
Posted On |
2015-04-16 |