Incidental Mutation 'R3854:Nt5c2'
| ID |
276087 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nt5c2
|
| Ensembl Gene |
ENSMUSG00000025041 |
| Gene Name |
5'-nucleotidase, cytosolic II |
| Synonyms |
cN-II, PNT5, NT5B |
| MMRRC Submission |
041605-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.333)
|
| Stock # |
R3854 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
46873829-47003613 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46884957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 252
(V252A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086961]
[ENSMUST00000168536]
[ENSMUST00000172239]
|
| AlphaFold |
Q3V1L4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086961
AA Change: V251A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000084180
Gene: ENSMUSG00000025041
AA Change: V251A
| 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: V226A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129126
Gene: ENSMUSG00000025041
AA Change: V226A
| 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: V252A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130898
Gene: ENSMUSG00000025041
AA Change: V252A
| 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 |
0.3105 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 94.2%
|
| Validation Efficiency |
96% (46/48) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1 |
T |
C |
2: 58,352,946 (GRCm39) |
K338R |
probably damaging |
Het |
| Adar |
C |
T |
3: 89,643,565 (GRCm39) |
P482L |
probably damaging |
Het |
| Adh5 |
A |
G |
3: 138,156,776 (GRCm39) |
D154G |
probably benign |
Het |
| Apoa1 |
A |
G |
9: 46,141,521 (GRCm39) |
S206G |
probably benign |
Het |
| Aspdh |
T |
C |
7: 44,115,613 (GRCm39) |
V5A |
possibly damaging |
Het |
| Bend3 |
AAGGACCA |
AA |
10: 43,386,713 (GRCm39) |
|
probably benign |
Het |
| C2cd3 |
A |
T |
7: 100,103,808 (GRCm39) |
|
probably null |
Het |
| Ccdc87 |
A |
G |
19: 4,889,546 (GRCm39) |
I13V |
probably benign |
Het |
| Cd163 |
A |
T |
6: 124,288,525 (GRCm39) |
N319Y |
probably damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,983,543 (GRCm39) |
|
probably benign |
Het |
| Ceacam2 |
T |
C |
7: 25,238,227 (GRCm39) |
S66G |
probably benign |
Het |
| Cep131 |
G |
A |
11: 119,958,011 (GRCm39) |
R772* |
probably null |
Het |
| Clhc1 |
T |
C |
11: 29,521,789 (GRCm39) |
C441R |
probably damaging |
Het |
| Clstn2 |
G |
A |
9: 97,345,648 (GRCm39) |
Q567* |
probably null |
Het |
| Cops7a |
C |
T |
6: 124,936,795 (GRCm39) |
R252H |
probably damaging |
Het |
| Daam2 |
T |
C |
17: 49,765,624 (GRCm39) |
N1093S |
probably benign |
Het |
| Dnajc16 |
G |
A |
4: 141,490,964 (GRCm39) |
R729* |
probably null |
Het |
| Eml6 |
C |
T |
11: 29,699,905 (GRCm39) |
A1744T |
possibly damaging |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Fbll1 |
T |
A |
11: 35,688,526 (GRCm39) |
T246S |
probably benign |
Het |
| Fbln2 |
A |
T |
6: 91,243,353 (GRCm39) |
T910S |
probably damaging |
Het |
| Fcna |
C |
T |
2: 25,517,784 (GRCm39) |
G22D |
possibly damaging |
Het |
| Gadl1 |
G |
T |
9: 115,835,732 (GRCm39) |
E387* |
probably null |
Het |
| Gm5592 |
G |
A |
7: 40,807,259 (GRCm39) |
|
probably benign |
Het |
| Gpr82 |
A |
T |
X: 13,531,577 (GRCm39) |
T42S |
probably benign |
Het |
| Hk2 |
T |
C |
6: 82,713,657 (GRCm39) |
E447G |
possibly damaging |
Het |
| Idi1 |
G |
T |
13: 8,935,968 (GRCm39) |
A25S |
probably benign |
Het |
| Lbr |
G |
A |
1: 181,659,280 (GRCm39) |
T167I |
probably benign |
Het |
| Mdh1 |
C |
T |
11: 21,509,281 (GRCm39) |
V234I |
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,308,081 (GRCm39) |
H420R |
probably damaging |
Het |
| Nhlrc2 |
T |
C |
19: 56,576,703 (GRCm39) |
|
probably null |
Het |
| Nrcam |
G |
T |
12: 44,622,667 (GRCm39) |
A938S |
probably benign |
Het |
| Or10z1 |
T |
A |
1: 174,077,716 (GRCm39) |
Y259F |
probably damaging |
Het |
| Or1p1c |
A |
T |
11: 74,161,105 (GRCm39) |
K297* |
probably null |
Het |
| Or51r1 |
T |
G |
7: 102,228,227 (GRCm39) |
L175R |
probably damaging |
Het |
| Pgap3 |
T |
C |
11: 98,281,638 (GRCm39) |
T187A |
possibly damaging |
Het |
| Pus10 |
T |
C |
11: 23,653,003 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
T |
C |
11: 119,371,765 (GRCm39) |
|
probably benign |
Het |
| Sag |
T |
C |
1: 87,752,240 (GRCm39) |
|
probably benign |
Het |
| Serpinb9e |
A |
G |
13: 33,439,137 (GRCm39) |
I188V |
probably benign |
Het |
| Shcbp1l |
A |
T |
1: 153,328,190 (GRCm39) |
I634F |
probably damaging |
Het |
| Slc6a16 |
T |
A |
7: 44,917,596 (GRCm39) |
C485S |
probably damaging |
Het |
| Vmn1r215 |
A |
C |
13: 23,260,058 (GRCm39) |
M33L |
probably benign |
Het |
| Vps26c |
A |
G |
16: 94,311,665 (GRCm39) |
F95L |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTTGTTTCTCAGAAAACAGGG -3'
(R):5'- AGACTTACAGGTCAAGTGTGGTG -3'
Sequencing Primer
(F):5'- CTTGTTTCTCAGAAAACAGGGAAAAC -3'
(R):5'- CCTGGGTTACAACGTAAAGCTTTGTC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation