Incidental Mutation 'IGL02681:Sulf2'
ID |
303367 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sulf2
|
Ensembl Gene |
ENSMUSG00000006800 |
Gene Name |
sulfatase 2 |
Synonyms |
2010004N24Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.261)
|
Stock # |
IGL02681
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
165915819-165997603 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 165958905 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 101
(V101A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154557
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088086]
[ENSMUST00000109249]
[ENSMUST00000139266]
[ENSMUST00000146497]
|
AlphaFold |
Q8CFG0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000088086
AA Change: V101A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000085405 Gene: ENSMUSG00000006800 AA Change: V101A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:Sulfatase
|
44 |
375 |
2.8e-50 |
PFAM |
low complexity region
|
512 |
523 |
N/A |
INTRINSIC |
Pfam:DUF3740
|
533 |
669 |
5.6e-47 |
PFAM |
low complexity region
|
702 |
720 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109249
AA Change: V101A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000104872 Gene: ENSMUSG00000006800 AA Change: V101A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:Sulfatase
|
44 |
375 |
2.8e-50 |
PFAM |
low complexity region
|
512 |
523 |
N/A |
INTRINSIC |
Pfam:DUF3740
|
532 |
670 |
1.3e-46 |
PFAM |
low complexity region
|
702 |
720 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139266
AA Change: V101A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146497
AA Change: V101A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heparan sulfate proteoglycans (HSPGs) act as coreceptors for numerous heparin-binding growth factors and cytokines and are involved in cell signaling. Heparan sulfate 6-O-endosulfatases, such as SULF2, selectively remove 6-O-sulfate groups from heparan sulfate. This activity modulates the effects of heparan sulfate by altering binding sites for signaling molecules (Dai et al., 2005 [PubMed 16192265]).[supplied by OMIM, Mar 2008] PHENOTYPE: Homozygous disruption of this gene may lead to a partially penetrant, strain-dependent phenotype of embryonic lethality, reduced postnatal body weight, lung abnormalities, brain malformations, and reduced fertility. Mice homozygous for a hypomorphic gene-trap allele display skeletal defects. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bcar3 |
C |
T |
3: 122,306,417 (GRCm39) |
|
probably null |
Het |
Cyp3a59 |
T |
C |
5: 146,027,556 (GRCm39) |
|
probably benign |
Het |
Dnah2 |
G |
A |
11: 69,343,759 (GRCm39) |
T2844M |
probably benign |
Het |
Ehbp1l1 |
T |
C |
19: 5,770,853 (GRCm39) |
I241M |
probably damaging |
Het |
Fancl |
G |
A |
11: 26,418,722 (GRCm39) |
|
probably null |
Het |
Filip1l |
A |
G |
16: 57,392,142 (GRCm39) |
Q910R |
probably benign |
Het |
Fn1 |
A |
T |
1: 71,658,641 (GRCm39) |
V1139E |
probably damaging |
Het |
Gm4787 |
A |
G |
12: 81,425,543 (GRCm39) |
V205A |
possibly damaging |
Het |
Gpr158 |
T |
A |
2: 21,820,441 (GRCm39) |
L646Q |
probably damaging |
Het |
Ifna1 |
A |
G |
4: 88,768,523 (GRCm39) |
D67G |
probably benign |
Het |
Il11ra1 |
T |
A |
4: 41,768,552 (GRCm39) |
M412K |
possibly damaging |
Het |
Klra10 |
T |
A |
6: 130,256,382 (GRCm39) |
M91L |
probably damaging |
Het |
Krba1 |
T |
A |
6: 48,381,052 (GRCm39) |
D129E |
probably damaging |
Het |
Mat1a |
T |
C |
14: 40,844,453 (GRCm39) |
|
probably benign |
Het |
Med24 |
T |
A |
11: 98,600,565 (GRCm39) |
K627* |
probably null |
Het |
Mpl |
A |
T |
4: 118,306,068 (GRCm39) |
|
probably benign |
Het |
Mynn |
T |
A |
3: 30,670,791 (GRCm39) |
D554E |
probably benign |
Het |
Niban2 |
A |
G |
2: 32,801,402 (GRCm39) |
Y122C |
probably benign |
Het |
Or1e23 |
T |
C |
11: 73,407,356 (GRCm39) |
Y223C |
probably benign |
Het |
Prkcd |
T |
C |
14: 30,323,190 (GRCm39) |
|
probably null |
Het |
Prrc2c |
T |
C |
1: 162,533,181 (GRCm39) |
|
probably benign |
Het |
Scp2d1 |
T |
C |
2: 144,665,804 (GRCm39) |
F48L |
probably benign |
Het |
Slc12a2 |
A |
G |
18: 58,012,471 (GRCm39) |
H198R |
probably benign |
Het |
Synj2 |
T |
A |
17: 6,040,611 (GRCm39) |
V144E |
probably damaging |
Het |
Tas2r113 |
T |
G |
6: 132,870,330 (GRCm39) |
F119L |
probably damaging |
Het |
Tspan17 |
A |
G |
13: 54,937,442 (GRCm39) |
E12G |
probably damaging |
Het |
|
Other mutations in Sulf2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00844:Sulf2
|
APN |
2 |
165,936,412 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL01353:Sulf2
|
APN |
2 |
165,929,015 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02427:Sulf2
|
APN |
2 |
165,931,218 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02602:Sulf2
|
APN |
2 |
165,923,220 (GRCm39) |
missense |
probably benign |
0.32 |
IGL03047:Sulf2
|
APN |
2 |
165,922,814 (GRCm39) |
splice site |
probably null |
|
PIT4468001:Sulf2
|
UTSW |
2 |
165,922,720 (GRCm39) |
missense |
probably benign |
|
R0029:Sulf2
|
UTSW |
2 |
165,958,893 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0029:Sulf2
|
UTSW |
2 |
165,958,893 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0233:Sulf2
|
UTSW |
2 |
165,927,589 (GRCm39) |
splice site |
probably benign |
|
R0332:Sulf2
|
UTSW |
2 |
165,931,119 (GRCm39) |
missense |
probably benign |
0.00 |
R0411:Sulf2
|
UTSW |
2 |
165,935,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R0599:Sulf2
|
UTSW |
2 |
165,925,799 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0694:Sulf2
|
UTSW |
2 |
165,927,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R1594:Sulf2
|
UTSW |
2 |
165,926,367 (GRCm39) |
splice site |
probably benign |
|
R1710:Sulf2
|
UTSW |
2 |
165,920,992 (GRCm39) |
missense |
probably benign |
|
R1725:Sulf2
|
UTSW |
2 |
165,923,281 (GRCm39) |
missense |
probably damaging |
0.96 |
R1737:Sulf2
|
UTSW |
2 |
165,924,598 (GRCm39) |
missense |
probably benign |
0.01 |
R1775:Sulf2
|
UTSW |
2 |
165,921,532 (GRCm39) |
missense |
probably benign |
0.07 |
R2001:Sulf2
|
UTSW |
2 |
165,922,773 (GRCm39) |
missense |
probably benign |
0.05 |
R2570:Sulf2
|
UTSW |
2 |
165,927,721 (GRCm39) |
missense |
probably benign |
0.21 |
R4052:Sulf2
|
UTSW |
2 |
165,936,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R4357:Sulf2
|
UTSW |
2 |
165,919,497 (GRCm39) |
missense |
probably benign |
0.01 |
R4613:Sulf2
|
UTSW |
2 |
165,974,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R4790:Sulf2
|
UTSW |
2 |
165,931,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R4858:Sulf2
|
UTSW |
2 |
165,923,524 (GRCm39) |
missense |
probably benign |
0.00 |
R5033:Sulf2
|
UTSW |
2 |
165,923,542 (GRCm39) |
missense |
probably benign |
0.01 |
R5692:Sulf2
|
UTSW |
2 |
165,923,426 (GRCm39) |
missense |
probably benign |
0.03 |
R5695:Sulf2
|
UTSW |
2 |
165,974,678 (GRCm39) |
missense |
probably benign |
0.03 |
R6504:Sulf2
|
UTSW |
2 |
165,925,841 (GRCm39) |
missense |
probably benign |
0.00 |
R6816:Sulf2
|
UTSW |
2 |
165,924,674 (GRCm39) |
missense |
probably benign |
|
R6859:Sulf2
|
UTSW |
2 |
165,929,039 (GRCm39) |
missense |
probably damaging |
1.00 |
R6873:Sulf2
|
UTSW |
2 |
165,931,195 (GRCm39) |
missense |
probably damaging |
0.97 |
R7125:Sulf2
|
UTSW |
2 |
165,917,448 (GRCm39) |
nonsense |
probably null |
|
R7329:Sulf2
|
UTSW |
2 |
165,959,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R7343:Sulf2
|
UTSW |
2 |
165,919,536 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7669:Sulf2
|
UTSW |
2 |
165,935,516 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7833:Sulf2
|
UTSW |
2 |
165,921,456 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8421:Sulf2
|
UTSW |
2 |
165,958,972 (GRCm39) |
missense |
probably benign |
0.11 |
R8430:Sulf2
|
UTSW |
2 |
165,916,736 (GRCm39) |
missense |
probably benign |
0.03 |
R8861:Sulf2
|
UTSW |
2 |
165,974,606 (GRCm39) |
missense |
possibly damaging |
0.96 |
R9285:Sulf2
|
UTSW |
2 |
165,935,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R9410:Sulf2
|
UTSW |
2 |
165,936,444 (GRCm39) |
missense |
|
|
RF016:Sulf2
|
UTSW |
2 |
165,924,523 (GRCm39) |
missense |
probably benign |
0.01 |
X0063:Sulf2
|
UTSW |
2 |
165,921,053 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2015-04-16 |