Incidental Mutation 'R5315:Nt5c2'
ID |
405816 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nt5c2
|
Ensembl Gene |
ENSMUSG00000025041 |
Gene Name |
5'-nucleotidase, cytosolic II |
Synonyms |
cN-II, PNT5, NT5B |
MMRRC Submission |
042898-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.323)
|
Stock # |
R5315 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
46873829-47003613 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 46880682 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 353
(Y353C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130898
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086961]
[ENSMUST00000168536]
[ENSMUST00000172239]
|
AlphaFold |
Q3V1L4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086961
AA Change: Y352C
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000084180 Gene: ENSMUSG00000025041 AA Change: Y352C
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: Y327C
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000129126 Gene: ENSMUSG00000025041 AA Change: Y327C
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: Y353C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130898 Gene: ENSMUSG00000025041 AA Change: Y353C
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: 99.5%
- 3x: 99.0%
- 10x: 98.1%
- 20x: 97.1%
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace3 |
T |
C |
11: 105,885,747 (GRCm39) |
V51A |
probably benign |
Het |
Ass1 |
A |
T |
2: 31,382,341 (GRCm39) |
I171F |
probably benign |
Het |
AU041133 |
T |
G |
10: 81,987,506 (GRCm39) |
Y386* |
probably null |
Het |
Bex6 |
A |
G |
16: 32,005,311 (GRCm39) |
N40D |
probably benign |
Het |
Cc2d2a |
A |
G |
5: 43,877,775 (GRCm39) |
Y1044C |
probably damaging |
Het |
Cflar |
C |
G |
1: 58,792,961 (GRCm39) |
D442E |
probably benign |
Het |
Dag1 |
A |
G |
9: 108,086,316 (GRCm39) |
V275A |
probably damaging |
Het |
Dnah17 |
G |
A |
11: 118,018,109 (GRCm39) |
R129W |
possibly damaging |
Het |
Epha4 |
C |
T |
1: 77,365,109 (GRCm39) |
|
probably null |
Het |
Eri2 |
T |
C |
7: 119,385,241 (GRCm39) |
D420G |
probably benign |
Het |
Gm42669 |
A |
T |
5: 107,656,103 (GRCm39) |
I1301F |
probably damaging |
Het |
Golga2 |
A |
G |
2: 32,193,773 (GRCm39) |
E463G |
probably damaging |
Het |
Grsf1 |
G |
A |
5: 88,821,634 (GRCm39) |
|
probably benign |
Het |
Igkv6-15 |
A |
C |
6: 70,383,957 (GRCm39) |
V7G |
possibly damaging |
Het |
Katnal2 |
A |
T |
18: 77,099,705 (GRCm39) |
V143D |
probably benign |
Het |
Mepce |
A |
C |
5: 137,780,955 (GRCm39) |
I617S |
probably damaging |
Het |
Mms19 |
C |
T |
19: 41,943,201 (GRCm39) |
R320Q |
possibly damaging |
Het |
Or5p76 |
A |
G |
7: 108,123,097 (GRCm39) |
L20S |
probably damaging |
Het |
Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
Pitpnm2 |
A |
T |
5: 124,259,996 (GRCm39) |
D1111E |
probably benign |
Het |
Plin5 |
C |
A |
17: 56,421,066 (GRCm39) |
V200L |
probably benign |
Het |
Rab3a |
T |
C |
8: 71,208,569 (GRCm39) |
F23L |
probably damaging |
Het |
Rrp8 |
T |
C |
7: 105,383,207 (GRCm39) |
K353R |
probably benign |
Het |
S100a7l2 |
G |
A |
3: 90,997,637 (GRCm39) |
T26M |
possibly damaging |
Het |
Senp7 |
A |
G |
16: 56,000,889 (GRCm39) |
D887G |
probably benign |
Het |
Sftpb |
G |
T |
6: 72,283,876 (GRCm39) |
A158S |
probably benign |
Het |
Sh2d2a |
A |
C |
3: 87,754,976 (GRCm39) |
T23P |
probably damaging |
Het |
Siglecf |
T |
C |
7: 43,004,532 (GRCm39) |
L287P |
probably benign |
Het |
Slc4a1 |
T |
A |
11: 102,249,080 (GRCm39) |
I233F |
possibly damaging |
Het |
Spef2 |
T |
C |
15: 9,596,777 (GRCm39) |
Q1424R |
probably damaging |
Het |
Tbc1d14 |
T |
C |
5: 36,664,932 (GRCm39) |
D567G |
probably damaging |
Het |
Tmem106b |
T |
G |
6: 13,081,559 (GRCm39) |
N155K |
probably damaging |
Het |
Vmn2r2 |
C |
A |
3: 64,024,377 (GRCm39) |
V735F |
probably benign |
Het |
Zfp850 |
T |
C |
7: 27,689,743 (GRCm39) |
K155R |
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 |
|
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'- TGGTTTCAGAACTGAGACAAACC -3'
(R):5'- GGGAGTGTGATCTGATCTGACC -3'
Sequencing Primer
(F):5'- TCAACAGAGGACAGAAGGATCTTTTC -3'
(R):5'- TGATCTGATCTGACCTAGCCCAATAG -3'
|
Posted On |
2016-07-22 |