Incidental Mutation 'R6401:Nt5c2'
| ID |
516186 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nt5c2
|
| Ensembl Gene |
ENSMUSG00000025041 |
| Gene Name |
5'-nucleotidase, cytosolic II |
| Synonyms |
cN-II, PNT5, NT5B |
| MMRRC Submission |
044548-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.323)
|
| Stock # |
R6401 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
46873829-47003613 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46878250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 496
(Y496H)
|
| 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: Y495H
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000084180
Gene: ENSMUSG00000025041
AA Change: Y495H
| 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: Y470H
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000129126
Gene: ENSMUSG00000025041
AA Change: Y470H
| 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: Y496H
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000130898
Gene: ENSMUSG00000025041
AA Change: Y496H
| 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
|
| Meta Mutation Damage Score |
0.0906 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
93% (41/44) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano3 |
T |
A |
2: 110,605,459 (GRCm39) |
N249I |
probably benign |
Het |
| Ap3s1 |
A |
C |
18: 46,891,074 (GRCm39) |
I56L |
probably benign |
Het |
| Ccn5 |
T |
C |
2: 163,670,946 (GRCm39) |
I151T |
probably benign |
Het |
| Cngb1 |
A |
G |
8: 96,030,367 (GRCm39) |
|
probably benign |
Het |
| Col2a1 |
T |
C |
15: 97,883,773 (GRCm39) |
T570A |
unknown |
Het |
| Cyp3a16 |
T |
C |
5: 145,377,174 (GRCm39) |
E471G |
probably damaging |
Het |
| D930020B18Rik |
A |
G |
10: 121,477,762 (GRCm39) |
N14D |
possibly damaging |
Het |
| Ext1 |
T |
C |
15: 52,969,493 (GRCm39) |
E365G |
possibly damaging |
Het |
| Fbn1 |
C |
A |
2: 125,188,370 (GRCm39) |
V1490F |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
| Gm5431 |
T |
A |
11: 48,779,536 (GRCm39) |
N740I |
probably benign |
Het |
| Ifi209 |
T |
C |
1: 173,472,269 (GRCm39) |
M370T |
probably damaging |
Het |
| Ighv2-4 |
G |
T |
12: 113,617,082 (GRCm39) |
P60Q |
probably damaging |
Het |
| Kif19b |
A |
T |
5: 140,442,698 (GRCm39) |
T80S |
possibly damaging |
Het |
| Ldb3 |
A |
T |
14: 34,299,291 (GRCm39) |
L111Q |
probably benign |
Het |
| Mcmbp |
G |
T |
7: 128,308,783 (GRCm39) |
L413I |
possibly damaging |
Het |
| Mib1 |
T |
A |
18: 10,795,802 (GRCm39) |
M721K |
probably benign |
Het |
| Nos3 |
A |
G |
5: 24,584,809 (GRCm39) |
T738A |
probably benign |
Het |
| Notch3 |
T |
A |
17: 32,377,597 (GRCm39) |
I160L |
probably benign |
Het |
| Nrxn3 |
C |
A |
12: 89,221,770 (GRCm39) |
N516K |
possibly damaging |
Het |
| Or13f5 |
A |
C |
4: 52,826,242 (GRCm39) |
T282P |
probably damaging |
Het |
| Or1n1 |
A |
T |
2: 36,750,177 (GRCm39) |
L61* |
probably null |
Het |
| Or5b111 |
T |
C |
19: 13,290,878 (GRCm39) |
Y257C |
probably damaging |
Het |
| Polm |
A |
T |
11: 5,779,491 (GRCm39) |
W436R |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,256,951 (GRCm39) |
I1221N |
probably benign |
Het |
| Rfpl4b |
T |
C |
10: 38,696,941 (GRCm39) |
H220R |
possibly damaging |
Het |
| Rgs12 |
T |
C |
5: 35,177,676 (GRCm39) |
F79L |
probably damaging |
Het |
| Rxfp2 |
A |
G |
5: 149,966,595 (GRCm39) |
D111G |
probably benign |
Het |
| Smg7 |
A |
G |
1: 152,715,887 (GRCm39) |
|
probably null |
Het |
| Spata22 |
T |
C |
11: 73,224,180 (GRCm39) |
S34P |
probably damaging |
Het |
| St7 |
T |
A |
6: 17,855,317 (GRCm39) |
|
probably null |
Het |
| Stk31 |
A |
G |
6: 49,400,372 (GRCm39) |
E399G |
probably damaging |
Het |
| Tcp10b |
C |
A |
17: 13,292,466 (GRCm39) |
N296K |
probably damaging |
Het |
| Tonsl |
T |
C |
15: 76,517,866 (GRCm39) |
Y645C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,800,206 (GRCm39) |
M334K |
probably benign |
Het |
| Vcpkmt |
C |
A |
12: 69,629,619 (GRCm39) |
V48F |
probably damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,532 (GRCm39) |
Y403* |
probably null |
Het |
| Vwa7 |
G |
A |
17: 35,236,286 (GRCm39) |
|
probably null |
Het |
| Wscd2 |
A |
T |
5: 113,726,206 (GRCm39) |
*572C |
probably null |
Het |
| Xpo7 |
A |
G |
14: 70,919,787 (GRCm39) |
L676P |
probably damaging |
Het |
| Zbtb32 |
A |
C |
7: 30,291,244 (GRCm39) |
L17W |
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 |
|
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'- GGCACCTCTCAATGTAACCC -3'
(R):5'- CTTGTATGTAGTTGCATAGCTGAGACC -3'
Sequencing Primer
(F):5'- CAGATGGCTGTGAGCTACCATG -3'
(R):5'- ATGATGGGAAGCCTGTTC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation