Incidental Mutation 'R7109:Ndst2'
| ID |
551414 |
| 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 |
045201-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.464)
|
| Stock # |
R7109 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
20773798-20784630 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 20779911 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 110
(R110S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047490]
[ENSMUST00000223679]
[ENSMUST00000225000]
[ENSMUST00000225419]
|
| AlphaFold |
P52850 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047490
AA Change: R110S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040227
Gene: ENSMUSG00000039308
AA Change: R110S
| 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 damaging
Transcript: ENSMUST00000223679
AA Change: R110S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224829
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225000
AA Change: R110S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225419
AA Change: R110S
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
G |
2: 151,315,673 (GRCm39) |
K2Q |
probably damaging |
Het |
| Abtb2 |
T |
C |
2: 103,545,860 (GRCm39) |
Y903H |
probably benign |
Het |
| Adamtsl3 |
C |
T |
7: 82,261,069 (GRCm39) |
P29S |
|
Het |
| Alcam |
T |
A |
16: 52,097,192 (GRCm39) |
T355S |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,516,522 (GRCm39) |
V404A |
probably benign |
Het |
| Bst2 |
A |
G |
8: 71,989,926 (GRCm39) |
F49S |
possibly damaging |
Het |
| C1qtnf9 |
G |
C |
14: 61,017,019 (GRCm39) |
W183S |
probably benign |
Het |
| Camsap3 |
A |
G |
8: 3,648,087 (GRCm39) |
I132V |
possibly damaging |
Het |
| Cchcr1 |
T |
A |
17: 35,828,838 (GRCm39) |
|
probably null |
Het |
| Cenpk |
A |
G |
13: 104,367,256 (GRCm39) |
K31E |
probably benign |
Het |
| Cfap221 |
T |
C |
1: 119,853,301 (GRCm39) |
K798E |
possibly damaging |
Het |
| Copb2 |
T |
A |
9: 98,463,333 (GRCm39) |
|
probably null |
Het |
| Dennd1a |
T |
A |
2: 37,938,804 (GRCm39) |
Y102F |
probably damaging |
Het |
| Eif2ak4 |
C |
T |
2: 118,235,532 (GRCm39) |
P88S |
probably damaging |
Het |
| Epha6 |
C |
A |
16: 59,503,031 (GRCm39) |
V959F |
probably damaging |
Het |
| Fam193a |
C |
A |
5: 34,623,165 (GRCm39) |
T1251K |
possibly damaging |
Het |
| Herc1 |
A |
T |
9: 66,389,171 (GRCm39) |
Q3896L |
probably benign |
Het |
| Ikbip |
C |
A |
10: 90,919,090 (GRCm39) |
D34E |
probably benign |
Het |
| Insr |
A |
G |
8: 3,308,481 (GRCm39) |
V185A |
probably benign |
Het |
| Jakmip1 |
C |
T |
5: 37,332,109 (GRCm39) |
Q930* |
probably null |
Het |
| Klc1 |
A |
G |
12: 111,743,299 (GRCm39) |
I209V |
probably benign |
Het |
| Lrrk2 |
T |
A |
15: 91,648,985 (GRCm39) |
L1660M |
probably damaging |
Het |
| Mbd3l1 |
G |
T |
9: 18,396,210 (GRCm39) |
D112Y |
possibly damaging |
Het |
| Mrps2 |
T |
A |
2: 28,358,258 (GRCm39) |
V16E |
probably benign |
Het |
| Ncoa1 |
G |
A |
12: 4,372,978 (GRCm39) |
T141I |
possibly damaging |
Het |
| Nlrp2 |
A |
G |
7: 5,331,616 (GRCm39) |
V260A |
probably damaging |
Het |
| Or4d10 |
A |
G |
19: 12,051,576 (GRCm39) |
I140T |
probably benign |
Het |
| Or51a6 |
A |
T |
7: 102,604,460 (GRCm39) |
V116E |
probably damaging |
Het |
| Or5p1 |
A |
G |
7: 107,916,959 (GRCm39) |
N286S |
probably damaging |
Het |
| Or7g16 |
A |
T |
9: 18,726,904 (GRCm39) |
S229T |
probably benign |
Het |
| Pah |
T |
C |
10: 87,406,148 (GRCm39) |
V262A |
probably damaging |
Het |
| Pcnt |
T |
G |
10: 76,205,738 (GRCm39) |
E2538A |
probably damaging |
Het |
| Pdxk |
T |
A |
10: 78,282,810 (GRCm39) |
I162F |
probably damaging |
Het |
| Plod2 |
T |
C |
9: 92,455,650 (GRCm39) |
F110L |
probably damaging |
Het |
| Pm20d2 |
A |
T |
4: 33,187,186 (GRCm39) |
L154Q |
probably damaging |
Het |
| Podxl2 |
C |
T |
6: 88,820,566 (GRCm39) |
V445I |
possibly damaging |
Het |
| Ppp1r3a |
A |
T |
6: 14,719,235 (GRCm39) |
W560R |
probably benign |
Het |
| Rasal3 |
A |
G |
17: 32,611,683 (GRCm39) |
S815P |
probably damaging |
Het |
| Rdm1 |
A |
G |
11: 101,524,654 (GRCm39) |
K196E |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,181,286 (GRCm39) |
D79G |
possibly damaging |
Het |
| Slc22a21 |
A |
G |
11: 53,870,329 (GRCm39) |
Y119H |
possibly damaging |
Het |
| Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
| Synrg |
C |
A |
11: 83,930,498 (GRCm39) |
A1280E |
possibly damaging |
Het |
| Szt2 |
A |
G |
4: 118,232,676 (GRCm39) |
C2396R |
unknown |
Het |
| Trappc3 |
A |
G |
4: 126,167,726 (GRCm39) |
N95S |
probably benign |
Het |
| Tulp4 |
C |
T |
17: 6,282,055 (GRCm39) |
H695Y |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,113,681 (GRCm39) |
D633E |
probably benign |
Het |
| Wasl |
G |
A |
6: 24,633,186 (GRCm39) |
P151S |
probably benign |
Het |
| Wwp2 |
A |
G |
8: 108,209,988 (GRCm39) |
N122S |
probably benign |
Het |
| Zfp51 |
A |
G |
17: 21,683,831 (GRCm39) |
R149G |
possibly damaging |
Het |
| Zfp764 |
A |
G |
7: 127,003,887 (GRCm39) |
S415P |
possibly 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 |
|
R0677:Ndst2
|
UTSW |
14 |
20,779,647 (GRCm39) |
missense |
probably benign |
0.06 |
|
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 |
|
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'- AGCCCCAGGTTTGAGTGTAG -3'
(R):5'- TGCCCTTGGGAGACTGTAGTAG -3'
Sequencing Primer
(F):5'- GGAAAGCCCTTGAGCTGG -3'
(R):5'- CTGTAGTAGCAGTGGGGCAGC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation