Incidental Mutation 'R0411:Sulf2'
| ID |
36640 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sulf2
|
| Ensembl Gene |
ENSMUSG00000006800 |
| Gene Name |
sulfatase 2 |
| Synonyms |
2010004N24Rik |
| MMRRC Submission |
038613-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.313)
|
| Stock # |
R0411 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
165915819-165997603 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 165935436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 226
(H226N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154557
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088086]
[ENSMUST00000109249]
[ENSMUST00000139266]
[ENSMUST00000146497]
|
| AlphaFold |
Q8CFG0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088086
AA Change: H226N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000085405
Gene: ENSMUSG00000006800
AA Change: H226N
| 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 damaging
Transcript: ENSMUST00000109249
AA Change: H226N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104872
Gene: ENSMUSG00000006800
AA Change: H226N
| 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 |
silent
Transcript: ENSMUST00000139266
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146497
AA Change: H226N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.9733 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
97% (66/68) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
A |
G |
5: 64,053,834 (GRCm39) |
|
probably benign |
Het |
| 6030469F06Rik |
A |
T |
12: 31,234,730 (GRCm39) |
|
noncoding transcript |
Het |
| Acad11 |
T |
C |
9: 103,993,495 (GRCm39) |
F541L |
probably damaging |
Het |
| Acin1 |
G |
T |
14: 54,884,231 (GRCm39) |
R92S |
probably damaging |
Het |
| Appl1 |
A |
G |
14: 26,662,213 (GRCm39) |
S490P |
probably benign |
Het |
| Aqp9 |
C |
A |
9: 71,037,726 (GRCm39) |
V184L |
probably benign |
Het |
| Arih1 |
A |
T |
9: 59,393,266 (GRCm39) |
I122N |
possibly damaging |
Het |
| Bmi1 |
T |
C |
2: 18,687,983 (GRCm39) |
|
probably benign |
Het |
| Bmpr1a |
G |
A |
14: 34,137,834 (GRCm39) |
T391I |
possibly damaging |
Het |
| Cacna1s |
A |
G |
1: 136,041,041 (GRCm39) |
K1256E |
probably damaging |
Het |
| Cacng3 |
C |
T |
7: 122,367,795 (GRCm39) |
P225L |
probably damaging |
Het |
| Cd101 |
A |
T |
3: 100,925,843 (GRCm39) |
|
probably null |
Het |
| Cd55 |
A |
G |
1: 130,390,294 (GRCm39) |
|
probably benign |
Het |
| Cenpe |
T |
C |
3: 134,928,016 (GRCm39) |
I258T |
probably damaging |
Het |
| Cfap251 |
C |
T |
5: 123,428,117 (GRCm39) |
T538M |
probably damaging |
Het |
| Cma2 |
A |
G |
14: 56,211,135 (GRCm39) |
|
probably benign |
Het |
| Ddost |
T |
A |
4: 138,036,964 (GRCm39) |
S176T |
probably benign |
Het |
| Ddx19b |
A |
T |
8: 111,750,596 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
A |
G |
9: 54,286,223 (GRCm39) |
I2681T |
probably damaging |
Het |
| Ern1 |
C |
T |
11: 106,289,412 (GRCm39) |
E964K |
probably benign |
Het |
| Exoc1l |
G |
T |
5: 76,648,334 (GRCm39) |
V47L |
possibly damaging |
Het |
| Galntl5 |
C |
T |
5: 25,425,172 (GRCm39) |
R430C |
probably benign |
Het |
| Gga3 |
A |
G |
11: 115,478,259 (GRCm39) |
L511P |
probably damaging |
Het |
| Gria2 |
C |
T |
3: 80,618,165 (GRCm39) |
|
probably benign |
Het |
| Hmbs |
A |
T |
9: 44,252,949 (GRCm39) |
L28* |
probably null |
Het |
| Iffo2 |
A |
G |
4: 139,330,532 (GRCm39) |
E220G |
probably damaging |
Het |
| Ifi30 |
A |
G |
8: 71,217,562 (GRCm39) |
|
probably benign |
Het |
| Irf2 |
T |
A |
8: 47,299,096 (GRCm39) |
C297S |
probably benign |
Het |
| Izumo4 |
T |
C |
10: 80,538,918 (GRCm39) |
Y94H |
probably damaging |
Het |
| Klhdc9 |
A |
G |
1: 171,187,353 (GRCm39) |
V215A |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,731,261 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,580,955 (GRCm39) |
C513S |
probably damaging |
Het |
| Lyg1 |
A |
T |
1: 37,988,977 (GRCm39) |
M81K |
possibly damaging |
Het |
| Maip1 |
T |
G |
1: 57,454,852 (GRCm39) |
W279G |
probably damaging |
Het |
| Myo7a |
T |
C |
7: 97,721,144 (GRCm39) |
T1263A |
probably benign |
Het |
| Naa15 |
T |
A |
3: 51,373,060 (GRCm39) |
I701N |
possibly damaging |
Het |
| Ncoa3 |
A |
G |
2: 165,910,463 (GRCm39) |
N1292S |
probably benign |
Het |
| Necab2 |
T |
A |
8: 120,180,979 (GRCm39) |
|
probably benign |
Het |
| Nfatc1 |
T |
A |
18: 80,741,257 (GRCm39) |
I234F |
possibly damaging |
Het |
| Olfm1 |
G |
A |
2: 28,098,223 (GRCm39) |
R95K |
possibly damaging |
Het |
| Or10ag56 |
A |
G |
2: 87,139,402 (GRCm39) |
T90A |
probably benign |
Het |
| Or10ak8 |
A |
T |
4: 118,773,823 (GRCm39) |
N280K |
possibly damaging |
Het |
| Otoa |
T |
C |
7: 120,755,750 (GRCm39) |
|
probably null |
Het |
| Padi4 |
GCTGCGTACCTCCAC |
GC |
4: 140,475,760 (GRCm39) |
|
probably benign |
Het |
| Pard6g |
A |
G |
18: 80,160,337 (GRCm39) |
D150G |
probably damaging |
Het |
| Pax5 |
A |
G |
4: 44,609,783 (GRCm39) |
L215S |
probably damaging |
Het |
| Pja2 |
A |
T |
17: 64,594,516 (GRCm39) |
|
probably benign |
Het |
| Plk4 |
T |
A |
3: 40,765,654 (GRCm39) |
|
probably benign |
Het |
| Polr1a |
A |
T |
6: 71,955,405 (GRCm39) |
H1687L |
possibly damaging |
Het |
| Ptcd2 |
G |
A |
13: 99,479,899 (GRCm39) |
L41F |
probably damaging |
Het |
| Ropn1 |
T |
A |
16: 34,490,334 (GRCm39) |
S62T |
probably benign |
Het |
| Setd1a |
T |
C |
7: 127,395,223 (GRCm39) |
|
probably benign |
Het |
| Setdb1 |
T |
C |
3: 95,234,997 (GRCm39) |
D902G |
probably damaging |
Het |
| Sik3 |
T |
A |
9: 46,120,068 (GRCm39) |
L719Q |
probably damaging |
Het |
| Slc36a1 |
G |
T |
11: 55,123,333 (GRCm39) |
V433F |
probably benign |
Het |
| Slc6a3 |
T |
C |
13: 73,705,169 (GRCm39) |
V220A |
possibly damaging |
Het |
| Slc6a5 |
A |
T |
7: 49,561,539 (GRCm39) |
R24W |
probably damaging |
Het |
| Smox |
G |
T |
2: 131,362,564 (GRCm39) |
R281L |
probably benign |
Het |
| Syne2 |
C |
T |
12: 76,106,358 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
C |
T |
8: 48,740,826 (GRCm39) |
S1210N |
possibly damaging |
Het |
| Tns1 |
A |
T |
1: 73,964,920 (GRCm39) |
V1237E |
probably damaging |
Het |
| Trf |
C |
T |
9: 103,094,700 (GRCm39) |
V92M |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,539,717 (GRCm39) |
V34423A |
possibly damaging |
Het |
| Vmn2r118 |
A |
G |
17: 55,918,021 (GRCm39) |
|
probably benign |
Het |
| Vmn2r19 |
A |
G |
6: 123,286,703 (GRCm39) |
Y112C |
probably damaging |
Het |
| Zfp326 |
G |
T |
5: 106,026,641 (GRCm39) |
A15S |
possibly 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 |
|
|
R0332:Sulf2
|
UTSW |
2 |
165,931,119 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- GGCCCTTTAACCAGGAATGTTTTAAGGA -3'
(R):5'- GTGATACCCTGACAAAAGCAATGCCT -3'
Sequencing Primer
(F):5'- GGAAGGTTCAACTACATTGCTG -3'
(R):5'- gttcccctgtctgtctgttc -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation