Incidental Mutation 'R0332:Sulf2'
| ID |
35907 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sulf2
|
| Ensembl Gene |
ENSMUSG00000006800 |
| Gene Name |
sulfatase 2 |
| Synonyms |
2010004N24Rik |
| MMRRC Submission |
038541-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.261)
|
| Stock # |
R0332 (G1)
|
| Quality Score |
181 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
165915819-165997603 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 165931119 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 296
(T296M)
|
| 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: T296M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000085405
Gene: ENSMUSG00000006800
AA Change: T296M
| 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: T296M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000104872
Gene: ENSMUSG00000006800
AA Change: T296M
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146497
AA Change: T296M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Meta Mutation Damage Score |
0.0726 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.6%
|
| Validation Efficiency |
100% (63/63) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aggf1 |
T |
C |
13: 95,505,954 (GRCm39) |
E211G |
probably damaging |
Het |
| Aox3 |
A |
G |
1: 58,181,910 (GRCm39) |
N299S |
probably benign |
Het |
| Arhgef7 |
T |
A |
8: 11,874,701 (GRCm39) |
Y777* |
probably null |
Het |
| Atad1 |
A |
G |
19: 32,679,934 (GRCm39) |
|
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,112,268 (GRCm39) |
|
probably null |
Het |
| Bop1 |
A |
G |
15: 76,340,187 (GRCm39) |
Y130H |
probably damaging |
Het |
| Ccar2 |
G |
T |
14: 70,379,384 (GRCm39) |
|
probably benign |
Het |
| Ccdc110 |
G |
T |
8: 46,396,001 (GRCm39) |
E631* |
probably null |
Het |
| Cfap54 |
C |
T |
10: 92,871,319 (GRCm39) |
D634N |
probably damaging |
Het |
| Cldn8 |
C |
T |
16: 88,359,246 (GRCm39) |
|
silent |
Het |
| Cstf3 |
G |
T |
2: 104,476,812 (GRCm39) |
|
probably null |
Het |
| Dgkq |
T |
C |
5: 108,802,965 (GRCm39) |
|
probably benign |
Het |
| Dsp |
T |
A |
13: 38,366,204 (GRCm39) |
L546* |
probably null |
Het |
| Eif3g |
A |
T |
9: 20,809,280 (GRCm39) |
|
probably benign |
Het |
| Fam228a |
T |
A |
12: 4,785,018 (GRCm39) |
I38F |
probably damaging |
Het |
| Fto |
A |
T |
8: 92,128,518 (GRCm39) |
|
probably benign |
Het |
| Gcnt4 |
G |
T |
13: 97,083,018 (GRCm39) |
V105L |
probably benign |
Het |
| Gm10644 |
A |
G |
8: 84,660,210 (GRCm39) |
L45S |
possibly damaging |
Het |
| Gm7275 |
A |
T |
16: 47,894,132 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7579 |
T |
C |
7: 141,766,112 (GRCm39) |
S173P |
unknown |
Het |
| Gpatch8 |
T |
C |
11: 102,372,668 (GRCm39) |
N290S |
unknown |
Het |
| Grep1 |
A |
T |
17: 23,933,578 (GRCm39) |
|
probably benign |
Het |
| Hspb8 |
T |
A |
5: 116,547,532 (GRCm39) |
D150V |
probably damaging |
Het |
| Ifitm1 |
T |
C |
7: 140,548,366 (GRCm39) |
|
probably benign |
Het |
| Ifnl2 |
T |
C |
7: 28,208,756 (GRCm39) |
T99A |
possibly damaging |
Het |
| Ints4 |
T |
C |
7: 97,166,925 (GRCm39) |
L577P |
probably damaging |
Het |
| Jph4 |
T |
C |
14: 55,351,467 (GRCm39) |
E183G |
possibly damaging |
Het |
| Loxhd1 |
T |
A |
18: 77,471,526 (GRCm39) |
|
probably null |
Het |
| Mug1 |
G |
A |
6: 121,826,856 (GRCm39) |
|
probably null |
Het |
| Nlrp2 |
C |
A |
7: 5,320,629 (GRCm39) |
C836F |
probably damaging |
Het |
| Nup210l |
G |
T |
3: 90,039,616 (GRCm39) |
|
probably benign |
Het |
| Optn |
C |
T |
2: 5,028,926 (GRCm39) |
G526R |
probably damaging |
Het |
| Or51h1 |
A |
T |
7: 102,308,672 (GRCm39) |
I215F |
probably damaging |
Het |
| Or7e178 |
A |
G |
9: 20,225,352 (GRCm39) |
L288S |
probably benign |
Het |
| Phykpl |
A |
G |
11: 51,477,502 (GRCm39) |
E98G |
probably benign |
Het |
| Pikfyve |
A |
G |
1: 65,303,558 (GRCm39) |
N1648D |
probably benign |
Het |
| Plppr5 |
A |
T |
3: 117,465,581 (GRCm39) |
R277S |
probably benign |
Het |
| Ppp1r36 |
T |
A |
12: 76,474,677 (GRCm39) |
F86L |
probably benign |
Het |
| Ptgis |
A |
T |
2: 167,056,753 (GRCm39) |
L278Q |
probably damaging |
Het |
| Rasa2 |
A |
T |
9: 96,488,229 (GRCm39) |
F90Y |
probably damaging |
Het |
| Setd3 |
T |
C |
12: 108,073,838 (GRCm39) |
K480E |
probably benign |
Het |
| Slc66a1 |
C |
T |
4: 139,027,610 (GRCm39) |
S244N |
possibly damaging |
Het |
| Snx2 |
T |
C |
18: 53,345,983 (GRCm39) |
F389L |
probably benign |
Het |
| Supt16 |
A |
T |
14: 52,418,614 (GRCm39) |
H214Q |
probably damaging |
Het |
| Tbx4 |
A |
T |
11: 85,789,356 (GRCm39) |
M12L |
probably benign |
Het |
| Tlk1 |
A |
T |
2: 70,575,909 (GRCm39) |
|
probably null |
Het |
| Tmprss7 |
C |
T |
16: 45,501,001 (GRCm39) |
V267M |
probably benign |
Het |
| Tmub2 |
G |
A |
11: 102,179,174 (GRCm39) |
R291H |
probably damaging |
Het |
| Trpm2 |
A |
T |
10: 77,783,822 (GRCm39) |
V217E |
probably damaging |
Het |
| Try10 |
T |
A |
6: 41,331,154 (GRCm39) |
V10E |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,596,226 (GRCm39) |
V20229A |
probably benign |
Het |
| Ttn |
A |
C |
2: 76,608,538 (GRCm39) |
|
probably null |
Het |
| Usf2 |
T |
A |
7: 30,654,604 (GRCm39) |
M199L |
possibly damaging |
Het |
| Usp37 |
A |
T |
1: 74,534,869 (GRCm39) |
S26T |
possibly damaging |
Het |
| Vrk1 |
G |
C |
12: 106,024,884 (GRCm39) |
Q253H |
probably benign |
Het |
| Wdr72 |
A |
T |
9: 74,064,534 (GRCm39) |
|
probably null |
Het |
| Xrra1 |
T |
C |
7: 99,525,449 (GRCm39) |
F123L |
probably damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,673,255 (GRCm39) |
I1435T |
probably damaging |
Het |
| Zfp712 |
T |
A |
13: 67,188,877 (GRCm39) |
H550L |
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 |
|
IGL02681:Sulf2
|
APN |
2 |
165,958,905 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGTGGTTTCATCAAGCAGCAAAG -3'
(R):5'- TGAAGGTGGCTCCCTCCCATTTAC -3'
Sequencing Primer
(F):5'- TTCATCAAGCAGCAAAGACTGTG -3'
(R):5'- AGCTGTTCACGGCACTTG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation