Incidental Mutation 'R0677:Ndst2'
ID |
61687 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ndst2
|
Ensembl Gene |
ENSMUSG00000039308 |
Gene Name |
N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 |
Synonyms |
[Heparan sulfate]-glucosamine N-sulfotransferase, Mndns, glucosaminyl N-deacetylase/N-sulphotransferase-2 |
MMRRC Submission |
038862-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.464)
|
Stock # |
R0677 (G1)
|
Quality Score |
85 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
20773798-20784630 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 20779647 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 198
(R198W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153141
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047490]
[ENSMUST00000223679]
[ENSMUST00000225000]
[ENSMUST00000225419]
|
AlphaFold |
P52850 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047490
AA Change: R198W
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000040227 Gene: ENSMUSG00000039308 AA Change: R198W
Domain | Start | End | E-Value | Type |
Pfam:HSNSD
|
25 |
514 |
9.1e-245 |
PFAM |
Pfam:Sulfotransfer_1
|
603 |
866 |
9.1e-47 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223679
AA Change: R198W
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224234
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224829
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225000
AA Change: R198W
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225320
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225419
AA Change: R198W
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the N-deacetylase/N-sulfotransferase subfamily of the sulfotransferase 1 proteins. The encoded enzyme has dual functions in processing glucosamine and heparin polymers, including N-deacetylation and N-sulfation. The encoded protein may be localized to the Golgi. [provided by RefSeq, Feb 2009] PHENOTYPE: Mice homozugous for a null allele exhibit reduced mast cell numbers, histamine storage, protease storage and degranulation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630073D07Rik |
G |
A |
6: 132,603,520 (GRCm39) |
Q79* |
probably null |
Het |
Apol8 |
A |
C |
15: 77,634,051 (GRCm39) |
I175S |
probably damaging |
Het |
BC004004 |
T |
C |
17: 29,517,638 (GRCm39) |
F284S |
probably damaging |
Het |
Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
Dchs1 |
G |
A |
7: 105,414,191 (GRCm39) |
R875C |
probably damaging |
Het |
Depdc5 |
A |
C |
5: 33,058,814 (GRCm39) |
N261T |
probably damaging |
Het |
Flrt1 |
A |
T |
19: 7,073,544 (GRCm39) |
C334* |
probably null |
Het |
Galnt5 |
T |
A |
2: 57,888,992 (GRCm39) |
Y197* |
probably null |
Het |
Gp5 |
A |
G |
16: 30,127,193 (GRCm39) |
S494P |
probably benign |
Het |
Ifnlr1 |
T |
A |
4: 135,432,945 (GRCm39) |
D460E |
possibly damaging |
Het |
Mrgpra4 |
C |
T |
7: 47,630,728 (GRCm39) |
S291N |
probably benign |
Het |
Msh4 |
G |
A |
3: 153,585,004 (GRCm39) |
P367S |
possibly damaging |
Het |
Myct1 |
G |
T |
10: 5,554,261 (GRCm39) |
V43F |
probably benign |
Het |
Ogdhl |
A |
T |
14: 32,061,882 (GRCm39) |
H500L |
probably damaging |
Het |
Or52s1 |
C |
T |
7: 102,862,005 (GRCm39) |
R302* |
probably null |
Het |
Or6c2b |
T |
A |
10: 128,947,947 (GRCm39) |
M116L |
probably damaging |
Het |
Pkhd1 |
C |
T |
1: 20,594,454 (GRCm39) |
G1220S |
probably benign |
Het |
Slc26a4 |
A |
G |
12: 31,599,910 (GRCm39) |
|
probably null |
Het |
Spata31g1 |
T |
A |
4: 42,970,952 (GRCm39) |
L59* |
probably null |
Het |
Sytl1 |
A |
T |
4: 132,980,536 (GRCm39) |
C551S |
possibly damaging |
Het |
Uri1 |
T |
C |
7: 37,664,925 (GRCm39) |
N256D |
probably benign |
Het |
Vmn2r114 |
T |
G |
17: 23,529,568 (GRCm39) |
D178A |
probably damaging |
Het |
Vmn2r23 |
C |
T |
6: 123,690,410 (GRCm39) |
L429F |
probably benign |
Het |
Washc2 |
T |
C |
6: 116,221,577 (GRCm39) |
L685P |
probably damaging |
Het |
Wipi2 |
A |
T |
5: 142,643,989 (GRCm39) |
I124F |
probably damaging |
Het |
|
Other mutations in Ndst2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00576:Ndst2
|
APN |
14 |
20,774,552 (GRCm39) |
missense |
probably benign |
0.11 |
IGL00650:Ndst2
|
APN |
14 |
20,779,736 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL01565:Ndst2
|
APN |
14 |
20,778,274 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01746:Ndst2
|
APN |
14 |
20,779,482 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02457:Ndst2
|
APN |
14 |
20,779,622 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL03193:Ndst2
|
APN |
14 |
20,779,917 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03238:Ndst2
|
APN |
14 |
20,778,572 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03277:Ndst2
|
APN |
14 |
20,780,234 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0090:Ndst2
|
UTSW |
14 |
20,777,335 (GRCm39) |
missense |
probably damaging |
0.98 |
R0481:Ndst2
|
UTSW |
14 |
20,774,536 (GRCm39) |
missense |
possibly damaging |
0.70 |
R0834:Ndst2
|
UTSW |
14 |
20,779,761 (GRCm39) |
missense |
probably damaging |
1.00 |
R1015:Ndst2
|
UTSW |
14 |
20,780,132 (GRCm39) |
missense |
probably damaging |
1.00 |
R1354:Ndst2
|
UTSW |
14 |
20,775,043 (GRCm39) |
missense |
possibly damaging |
0.74 |
R1678:Ndst2
|
UTSW |
14 |
20,774,582 (GRCm39) |
missense |
probably benign |
0.00 |
R2680:Ndst2
|
UTSW |
14 |
20,774,822 (GRCm39) |
missense |
probably damaging |
0.99 |
R2853:Ndst2
|
UTSW |
14 |
20,779,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R5000:Ndst2
|
UTSW |
14 |
20,774,975 (GRCm39) |
critical splice donor site |
probably null |
|
R5266:Ndst2
|
UTSW |
14 |
20,774,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R6737:Ndst2
|
UTSW |
14 |
20,777,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R7109:Ndst2
|
UTSW |
14 |
20,779,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R7506:Ndst2
|
UTSW |
14 |
20,780,153 (GRCm39) |
missense |
probably benign |
|
R7646:Ndst2
|
UTSW |
14 |
20,774,527 (GRCm39) |
critical splice donor site |
probably null |
|
R7985:Ndst2
|
UTSW |
14 |
20,778,478 (GRCm39) |
splice site |
probably null |
|
R8094:Ndst2
|
UTSW |
14 |
20,778,232 (GRCm39) |
missense |
probably damaging |
0.99 |
R8893:Ndst2
|
UTSW |
14 |
20,774,830 (GRCm39) |
missense |
probably benign |
0.05 |
R9105:Ndst2
|
UTSW |
14 |
20,780,070 (GRCm39) |
missense |
probably benign |
|
R9209:Ndst2
|
UTSW |
14 |
20,779,240 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9428:Ndst2
|
UTSW |
14 |
20,775,470 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9723:Ndst2
|
UTSW |
14 |
20,775,512 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCAGCCACCTTCATGCGAGTACC -3'
(R):5'- TGTGAACTTAGATGCCTGGAGCCG -3'
Sequencing Primer
(F):5'- CGCTGTATGCCATCATGAAG -3'
(R):5'- GCCGGGAACTGCTGGAC -3'
|
Posted On |
2013-07-30 |