Incidental Mutation 'R6784:Nt5c2'
| ID |
531585 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nt5c2
|
| Ensembl Gene |
ENSMUSG00000025041 |
| Gene Name |
5'-nucleotidase, cytosolic II |
| Synonyms |
cN-II, PNT5, NT5B |
| MMRRC Submission |
044898-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.323)
|
| Stock # |
R6784 (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 46912766 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 63
(V63A)
|
| 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: V62A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084180
Gene: ENSMUSG00000025041
AA Change: V62A
| 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: V37A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129126
Gene: ENSMUSG00000025041
AA Change: V37A
| 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: V63A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130898
Gene: ENSMUSG00000025041
AA Change: V63A
| 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 |
|
| Meta Mutation Damage Score |
0.6543 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.2%
|
| Validation Efficiency |
98% (46/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
C |
T |
6: 23,093,895 (GRCm39) |
S142N |
probably null |
Het |
| Aida |
A |
G |
1: 183,103,346 (GRCm39) |
Y275C |
probably damaging |
Het |
| Arrdc4 |
A |
G |
7: 68,398,594 (GRCm39) |
I74T |
probably benign |
Het |
| C1ql4 |
A |
G |
15: 98,985,290 (GRCm39) |
V107A |
probably benign |
Het |
| Ccnh |
T |
C |
13: 85,360,884 (GRCm39) |
V284A |
probably benign |
Het |
| Cd180 |
A |
G |
13: 102,839,213 (GRCm39) |
E32G |
probably damaging |
Het |
| Chd6 |
T |
C |
2: 160,808,174 (GRCm39) |
D1680G |
probably damaging |
Het |
| Cog7 |
A |
T |
7: 121,563,516 (GRCm39) |
|
probably null |
Het |
| Cyp2j6 |
T |
A |
4: 96,423,741 (GRCm39) |
Q209L |
possibly damaging |
Het |
| Dars1 |
A |
T |
1: 128,319,084 (GRCm39) |
V116E |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,854,890 (GRCm39) |
K1932E |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,780,926 (GRCm39) |
S2086P |
probably damaging |
Het |
| Espl1 |
C |
G |
15: 102,207,660 (GRCm39) |
R375G |
probably benign |
Het |
| Fer1l6 |
C |
T |
15: 58,443,275 (GRCm39) |
S526L |
possibly damaging |
Het |
| Galnt9 |
G |
A |
5: 110,768,465 (GRCm39) |
R587H |
probably damaging |
Het |
| Gigyf2 |
G |
T |
1: 87,371,396 (GRCm39) |
V1170L |
probably damaging |
Het |
| Gm14412 |
G |
T |
2: 177,009,133 (GRCm39) |
T41K |
probably benign |
Het |
| Gm45861 |
A |
G |
8: 27,990,086 (GRCm39) |
|
probably null |
Het |
| H2bc4 |
T |
C |
13: 23,868,483 (GRCm39) |
I90T |
probably damaging |
Het |
| Hoxc5 |
A |
G |
15: 102,922,322 (GRCm39) |
|
probably benign |
Het |
| Jkampl |
A |
T |
6: 73,445,918 (GRCm39) |
Y210* |
probably null |
Het |
| Klra1 |
T |
C |
6: 130,349,817 (GRCm39) |
D207G |
probably benign |
Het |
| Lancl2 |
A |
G |
6: 57,680,240 (GRCm39) |
N57D |
probably benign |
Het |
| Map2k4 |
T |
C |
11: 65,582,577 (GRCm39) |
|
probably benign |
Het |
| Mgat3 |
G |
T |
15: 80,096,401 (GRCm39) |
Q409H |
probably damaging |
Het |
| Mpp3 |
T |
A |
11: 101,892,974 (GRCm39) |
|
probably null |
Het |
| Myh1 |
T |
A |
11: 67,105,396 (GRCm39) |
L1062Q |
probably damaging |
Het |
| Nebl |
T |
A |
2: 17,439,725 (GRCm39) |
K183* |
probably null |
Het |
| Npat |
G |
C |
9: 53,469,458 (GRCm39) |
D315H |
probably damaging |
Het |
| Opn1sw |
T |
A |
6: 29,379,846 (GRCm39) |
E129D |
probably damaging |
Het |
| Or10ag2 |
C |
T |
2: 87,248,796 (GRCm39) |
R135C |
probably benign |
Het |
| Or1e29 |
T |
G |
11: 73,667,676 (GRCm39) |
H159P |
probably damaging |
Het |
| Or51t4 |
A |
T |
7: 102,597,722 (GRCm39) |
T17S |
possibly damaging |
Het |
| Or5p1 |
A |
T |
7: 107,916,989 (GRCm39) |
D296V |
probably damaging |
Het |
| Prdm16 |
T |
C |
4: 154,407,764 (GRCm39) |
Y1153C |
probably damaging |
Het |
| Prdm6 |
T |
A |
18: 53,669,698 (GRCm39) |
D105E |
probably benign |
Het |
| Pwwp4c |
C |
T |
X: 73,684,021 (GRCm39) |
R355H |
probably damaging |
Homo |
| Rbm27 |
T |
C |
18: 42,434,929 (GRCm39) |
M331T |
probably benign |
Het |
| S1pr1 |
A |
G |
3: 115,505,710 (GRCm39) |
Y295H |
probably damaging |
Het |
| Sgpp1 |
G |
C |
12: 75,782,243 (GRCm39) |
P32R |
probably benign |
Het |
| Sla2 |
C |
T |
2: 156,725,589 (GRCm39) |
S3N |
unknown |
Het |
| Slc10a6 |
A |
G |
5: 103,776,896 (GRCm39) |
I68T |
probably damaging |
Het |
| Slc5a1 |
T |
C |
5: 33,315,460 (GRCm39) |
F493S |
probably benign |
Het |
| Snx14 |
A |
T |
9: 88,263,845 (GRCm39) |
Y847N |
probably benign |
Het |
| Tmc1 |
A |
G |
19: 20,805,015 (GRCm39) |
|
probably null |
Het |
| Vps8 |
C |
A |
16: 21,381,957 (GRCm39) |
Q1130K |
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 |
|
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 |
|
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'- CCGATAAGAGCTTCTTGAAGCC -3'
(R):5'- GCTTGACAGTACAGTGTGAGC -3'
Sequencing Primer
(F):5'- CGATAAGAGCTTCTTGAAGCCAAATC -3'
(R):5'- AGACTTACCTGCATGGCATG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation