Incidental Mutation 'R7506:Ndst2'
| ID |
581813 |
| 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 |
045579-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.429)
|
| Stock # |
R7506 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
20773798-20784630 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20780153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 29
(V29A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047490]
[ENSMUST00000071816]
[ENSMUST00000080440]
[ENSMUST00000100837]
[ENSMUST00000223679]
[ENSMUST00000225000]
[ENSMUST00000225419]
|
| AlphaFold |
P52850 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047490
AA Change: V29A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000040227
Gene: ENSMUSG00000039308
AA Change: V29A
| 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: ENSMUST00000071816
|
| SMART Domains |
Protein: ENSMUSP00000071720
Gene: ENSMUSG00000021820
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
14 |
272 |
6.15e-106 |
SMART |
|
low complexity region
|
323 |
338 |
N/A |
INTRINSIC |
|
Pfam:CaMKII_AD
|
397 |
524 |
2.7e-62 |
PFAM |
|
Pfam:DUF4440
|
401 |
514 |
3.9e-12 |
PFAM |
|
Pfam:SnoaL_3
|
401 |
526 |
4.6e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080440
|
| SMART Domains |
Protein: ENSMUSP00000079298
Gene: ENSMUSG00000021820
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
14 |
272 |
6.15e-106 |
SMART |
|
Pfam:CaMKII_AD
|
386 |
513 |
3.7e-63 |
PFAM |
|
Pfam:DUF4440
|
390 |
504 |
3.2e-14 |
PFAM |
|
Pfam:SnoaL_3
|
390 |
515 |
4.1e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100837
|
| SMART Domains |
Protein: ENSMUSP00000098398
Gene: ENSMUSG00000021820
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
14 |
272 |
6.15e-106 |
SMART |
|
Pfam:CaMKII_AD
|
363 |
490 |
3.8e-63 |
PFAM |
|
Pfam:DUF4440
|
367 |
481 |
3.6e-14 |
PFAM |
|
Pfam:SnoaL_3
|
367 |
492 |
4.7e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223679
AA Change: V29A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224829
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225000
AA Change: V29A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225419
AA Change: V29A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (58/59) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406C07Rik |
C |
T |
9: 15,209,202 (GRCm39) |
V31I |
probably benign |
Het |
| 4933430I17Rik |
T |
C |
4: 62,450,498 (GRCm39) |
V24A |
possibly damaging |
Het |
| Adamtsl3 |
A |
T |
7: 82,164,186 (GRCm39) |
R334W |
probably damaging |
Het |
| Aox1 |
G |
A |
1: 58,088,562 (GRCm39) |
C116Y |
probably damaging |
Het |
| B3gntl1 |
A |
T |
11: 121,561,740 (GRCm39) |
I74N |
probably damaging |
Het |
| Bicra |
C |
T |
7: 15,722,138 (GRCm39) |
V460M |
possibly damaging |
Het |
| Ccdc18 |
G |
A |
5: 108,311,605 (GRCm39) |
C437Y |
possibly damaging |
Het |
| Cdh6 |
A |
G |
15: 13,034,396 (GRCm39) |
S755P |
probably damaging |
Het |
| Crtc2 |
G |
T |
3: 90,166,519 (GRCm39) |
A165S |
probably damaging |
Het |
| Cwf19l2 |
C |
T |
9: 3,456,775 (GRCm39) |
H703Y |
probably damaging |
Het |
| Cyc1 |
C |
A |
15: 76,227,885 (GRCm39) |
T41K |
probably benign |
Het |
| Defb28 |
A |
T |
2: 152,360,221 (GRCm39) |
H12L |
possibly damaging |
Het |
| Dsg3 |
T |
A |
18: 20,666,521 (GRCm39) |
C577S |
probably benign |
Het |
| Ggt6 |
G |
T |
11: 72,328,724 (GRCm39) |
C408F |
possibly damaging |
Het |
| Gm3278 |
T |
A |
14: 16,080,479 (GRCm39) |
Y97N |
probably damaging |
Het |
| Gpr155 |
A |
G |
2: 73,198,683 (GRCm39) |
L412P |
probably damaging |
Het |
| Gucd1 |
T |
C |
10: 75,347,019 (GRCm39) |
H77R |
probably benign |
Het |
| H2bc8 |
G |
A |
13: 23,755,658 (GRCm39) |
A18T |
unknown |
Het |
| Hat1 |
T |
A |
2: 71,250,691 (GRCm39) |
I158N |
probably damaging |
Het |
| Hhla1 |
C |
T |
15: 65,808,231 (GRCm39) |
W271* |
probably null |
Het |
| Igsf10 |
T |
A |
3: 59,226,775 (GRCm39) |
L2299F |
probably damaging |
Het |
| Iqsec1 |
A |
G |
6: 90,644,891 (GRCm39) |
S914P |
probably damaging |
Het |
| Iqsec1 |
G |
T |
6: 90,639,788 (GRCm39) |
H983Q |
possibly damaging |
Het |
| Irx2 |
G |
T |
13: 72,777,328 (GRCm39) |
G50C |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,357,064 (GRCm39) |
|
probably benign |
Het |
| Lmo7 |
A |
G |
14: 102,157,045 (GRCm39) |
E1405G |
unknown |
Het |
| Mdm2 |
T |
C |
10: 117,526,596 (GRCm39) |
D330G |
possibly damaging |
Het |
| Mgat5 |
A |
C |
1: 127,294,192 (GRCm39) |
D178A |
probably benign |
Het |
| Mier2 |
C |
A |
10: 79,386,176 (GRCm39) |
R25L |
probably benign |
Het |
| Mlip |
T |
C |
9: 77,072,085 (GRCm39) |
K257E |
probably damaging |
Het |
| Mtfr2 |
T |
C |
10: 20,229,131 (GRCm39) |
S80P |
probably benign |
Het |
| Negr1 |
T |
G |
3: 156,774,870 (GRCm39) |
Y195* |
probably null |
Het |
| Nptn |
T |
C |
9: 58,526,156 (GRCm39) |
L101P |
probably damaging |
Het |
| Nrip1 |
G |
A |
16: 76,091,347 (GRCm39) |
T70I |
probably damaging |
Het |
| Nrtn |
C |
T |
17: 57,058,633 (GRCm39) |
V123M |
probably damaging |
Het |
| Onecut1 |
T |
A |
9: 74,770,522 (GRCm39) |
F315Y |
possibly damaging |
Het |
| Or1p1 |
A |
T |
11: 74,179,949 (GRCm39) |
H159L |
possibly damaging |
Het |
| P4htm |
A |
G |
9: 108,460,878 (GRCm39) |
L198S |
probably damaging |
Het |
| Pappa |
A |
C |
4: 65,149,419 (GRCm39) |
I920L |
probably benign |
Het |
| Pcdhgb5 |
A |
C |
18: 37,865,525 (GRCm39) |
D440A |
probably damaging |
Het |
| Ppard |
A |
T |
17: 28,517,735 (GRCm39) |
N268Y |
possibly damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,526,997 (GRCm39) |
S563T |
probably benign |
Het |
| Rtn3 |
T |
A |
19: 7,407,118 (GRCm39) |
E949D |
probably benign |
Het |
| Sf3a1 |
T |
C |
11: 4,127,561 (GRCm39) |
M629T |
probably benign |
Het |
| Slc39a8 |
T |
C |
3: 135,590,067 (GRCm39) |
I319T |
probably benign |
Het |
| Sorcs1 |
C |
T |
19: 50,171,112 (GRCm39) |
W925* |
probably null |
Het |
| Spag9 |
G |
A |
11: 93,999,290 (GRCm39) |
D1069N |
probably damaging |
Het |
| Taar7a |
A |
G |
10: 23,868,892 (GRCm39) |
V163A |
possibly damaging |
Het |
| Tmem150a |
G |
A |
6: 72,333,753 (GRCm39) |
|
probably null |
Het |
| Tnxb |
G |
A |
17: 34,934,665 (GRCm39) |
V2425I |
possibly damaging |
Het |
| Tppp2 |
A |
G |
14: 52,158,058 (GRCm39) |
K168E |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,719,812 (GRCm39) |
D7099V |
unknown |
Het |
| Vmn1r41 |
A |
T |
6: 89,724,159 (GRCm39) |
R50* |
probably null |
Het |
| Vmn1r60 |
T |
C |
7: 5,547,861 (GRCm39) |
K80E |
|
Het |
| Vmn2r18 |
A |
G |
5: 151,508,485 (GRCm39) |
F213S |
possibly damaging |
Het |
| Vmn2r26 |
G |
A |
6: 124,016,700 (GRCm39) |
S388N |
probably benign |
Het |
| Vmn2r63 |
A |
T |
7: 42,576,391 (GRCm39) |
F474Y |
probably damaging |
Het |
| Zc3hav1 |
G |
A |
6: 38,309,875 (GRCm39) |
R316* |
probably null |
Het |
| Zfp654 |
A |
T |
16: 64,612,211 (GRCm39) |
I225N |
probably damaging |
Het |
| Zfp97 |
A |
G |
17: 17,365,542 (GRCm39) |
E347G |
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 |
|
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 |
|
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'- ACAATCTCCTGCCCCAGTTG -3'
(R):5'- CTAAGAGAATCCTTCCCCTGCC -3'
Sequencing Primer
(F):5'- CCCCAGTTGTGAGTATGCAC -3'
(R):5'- GCCAAGGCAGTTCCAGC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation