Incidental Mutation 'R1354:Ndst2'
| ID |
156252 |
| 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 |
039419-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.429)
|
| Stock # |
R1354 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
20773798-20784630 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 20775043 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 749
(R749L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153141
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022358]
[ENSMUST00000047490]
[ENSMUST00000223679]
[ENSMUST00000223840]
[ENSMUST00000225000]
[ENSMUST00000224751]
[ENSMUST00000225419]
|
| AlphaFold |
P52850 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022358
|
| SMART Domains |
Protein: ENSMUSP00000022358
Gene: ENSMUSG00000021819
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
612 |
N/A |
INTRINSIC |
|
low complexity region
|
736 |
751 |
N/A |
INTRINSIC |
|
low complexity region
|
1000 |
1015 |
N/A |
INTRINSIC |
|
low complexity region
|
1120 |
1135 |
N/A |
INTRINSIC |
|
low complexity region
|
1176 |
1211 |
N/A |
INTRINSIC |
|
low complexity region
|
1259 |
1270 |
N/A |
INTRINSIC |
|
low complexity region
|
1343 |
1355 |
N/A |
INTRINSIC |
|
low complexity region
|
1470 |
1487 |
N/A |
INTRINSIC |
|
low complexity region
|
1491 |
1511 |
N/A |
INTRINSIC |
|
low complexity region
|
1527 |
1542 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047490
AA Change: R749L
PolyPhen 2
Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000040227
Gene: ENSMUSG00000039308
AA Change: R749L
| 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 |
noncoding transcript
Transcript: ENSMUST00000223561
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223679
AA Change: R749L
PolyPhen 2
Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223782
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223840
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224234
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225000
AA Change: R749L
PolyPhen 2
Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000224829
AA Change: R97L
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225010
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225320
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225187
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224751
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225911
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225419
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.9%
- 20x: 92.3%
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atoh1 |
A |
G |
6: 64,706,341 (GRCm39) |
E12G |
possibly damaging |
Het |
| Ccdc183 |
T |
C |
2: 25,502,151 (GRCm39) |
N241S |
probably benign |
Het |
| Cmya5 |
G |
A |
13: 93,228,566 (GRCm39) |
T2174I |
possibly damaging |
Het |
| Edem1 |
A |
G |
6: 108,831,277 (GRCm39) |
I579M |
possibly damaging |
Het |
| Gimap9 |
A |
T |
6: 48,654,982 (GRCm39) |
M190L |
probably benign |
Het |
| Glod4 |
A |
T |
11: 76,128,654 (GRCm39) |
|
probably null |
Het |
| Ighv8-6 |
A |
T |
12: 115,129,700 (GRCm39) |
S19T |
probably damaging |
Het |
| Lef1 |
C |
T |
3: 130,988,317 (GRCm39) |
P267S |
probably damaging |
Het |
| Megf11 |
A |
G |
9: 64,560,459 (GRCm39) |
E335G |
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,361,114 (GRCm39) |
N1475S |
probably damaging |
Het |
| Oas3 |
C |
A |
5: 120,908,065 (GRCm39) |
V292L |
possibly damaging |
Het |
| Phactr1 |
A |
T |
13: 43,210,807 (GRCm39) |
I210F |
possibly damaging |
Het |
| Plppr5 |
G |
A |
3: 117,369,496 (GRCm39) |
R51H |
possibly damaging |
Het |
| Ppp1r12b |
G |
A |
1: 134,763,721 (GRCm39) |
T771M |
probably benign |
Het |
| Rasgrf2 |
G |
A |
13: 92,165,174 (GRCm39) |
P331S |
probably damaging |
Het |
| Rtl6 |
C |
T |
15: 84,440,728 (GRCm39) |
V223M |
probably damaging |
Het |
| Tbc1d9 |
A |
C |
8: 83,995,610 (GRCm39) |
|
probably null |
Het |
| Tgm3 |
T |
C |
2: 129,883,818 (GRCm39) |
I492T |
probably benign |
Het |
| Trdv1 |
T |
A |
14: 54,119,375 (GRCm39) |
|
probably benign |
Het |
| Wdr45b |
A |
T |
11: 121,226,256 (GRCm39) |
I191N |
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 |
|
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 |
|
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'- GGCCCTGGCACCAAAATCCTTTATC -3'
(R):5'- CCAGAGCCATTGTCAAATGAGCACC -3'
Sequencing Primer
(F):5'- TGATACCCAGGAACTTCTGGATG -3'
(R):5'- CATTGTCAAATGAGCACCTTATCC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation