Incidental Mutation 'R9285:Sulf2'
| ID |
703850 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sulf2
|
| Ensembl Gene |
ENSMUSG00000006800 |
| Gene Name |
sulfatase 2 |
| Synonyms |
2010004N24Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.313)
|
| Stock # |
R9285 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
165915819-165997603 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 165935435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 226
(H226L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088086]
[ENSMUST00000109249]
[ENSMUST00000139266]
[ENSMUST00000146497]
|
| AlphaFold |
Q8CFG0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088086
AA Change: H226L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000085405
Gene: ENSMUSG00000006800
AA Change: H226L
| 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: H226L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104872
Gene: ENSMUSG00000006800
AA Change: H226L
| 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 damaging
Transcript: ENSMUST00000146497
AA Change: H226L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.9747 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (49/49) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
G |
T |
6: 128,526,756 (GRCm39) |
T1085K |
probably benign |
Het |
| Asxl3 |
A |
T |
18: 22,654,989 (GRCm39) |
I1000F |
probably damaging |
Het |
| Atp2c2 |
A |
G |
8: 120,465,141 (GRCm39) |
M308V |
probably benign |
Het |
| Chd3 |
G |
T |
11: 69,249,954 (GRCm39) |
R736S |
possibly damaging |
Het |
| Chst9 |
T |
A |
18: 15,586,017 (GRCm39) |
H182L |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,452,746 (GRCm39) |
F2112S |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 15,956,088 (GRCm39) |
L3373H |
probably damaging |
Het |
| Ctsll3 |
T |
A |
13: 60,946,402 (GRCm39) |
D303V |
probably benign |
Het |
| Cyp7b1 |
T |
A |
3: 18,151,564 (GRCm39) |
K216N |
probably damaging |
Het |
| Dock9 |
A |
C |
14: 121,833,012 (GRCm39) |
F1315V |
probably benign |
Het |
| Eme2 |
T |
C |
17: 25,108,132 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
A |
G |
7: 18,925,568 (GRCm39) |
I222M |
probably damaging |
Het |
| Ggcx |
T |
A |
6: 72,395,402 (GRCm39) |
Y164* |
probably null |
Het |
| Gm20939 |
T |
C |
17: 95,184,188 (GRCm39) |
F279L |
probably damaging |
Het |
| Gm44511 |
T |
C |
6: 128,777,017 (GRCm39) |
|
probably benign |
Het |
| Gprin1 |
A |
G |
13: 54,886,523 (GRCm39) |
S584P |
probably damaging |
Het |
| Ighv2-2 |
A |
T |
12: 113,551,903 (GRCm39) |
Y112N |
probably damaging |
Het |
| Kansl3 |
T |
C |
1: 36,383,148 (GRCm39) |
|
probably benign |
Het |
| Kcnu1 |
T |
A |
8: 26,381,611 (GRCm39) |
I449K |
probably damaging |
Het |
| Lima1 |
T |
C |
15: 99,678,687 (GRCm39) |
R585G |
probably damaging |
Het |
| Lrrk2 |
T |
A |
15: 91,662,686 (GRCm39) |
V1905E |
probably damaging |
Het |
| Map3k6 |
T |
A |
4: 132,972,870 (GRCm39) |
V343E |
probably damaging |
Het |
| Mei1 |
T |
C |
15: 81,985,170 (GRCm39) |
F279S |
|
Het |
| Mgat3 |
A |
G |
15: 80,096,538 (GRCm39) |
D455G |
probably damaging |
Het |
| Mycbp2 |
T |
A |
14: 103,434,753 (GRCm39) |
Q2230L |
probably damaging |
Het |
| Myog |
T |
C |
1: 134,218,895 (GRCm39) |
F179S |
possibly damaging |
Het |
| Nlrc5 |
A |
C |
8: 95,199,604 (GRCm39) |
I72L |
probably damaging |
Het |
| Or2ag1 |
T |
C |
7: 106,472,715 (GRCm39) |
T246A |
probably benign |
Het |
| Or4k2 |
A |
C |
14: 50,424,122 (GRCm39) |
V185G |
probably benign |
Het |
| Or4s2b |
T |
A |
2: 88,508,680 (GRCm39) |
H153Q |
probably damaging |
Het |
| Or5k15 |
T |
A |
16: 58,710,569 (GRCm39) |
K5* |
probably null |
Het |
| Or5p5 |
C |
T |
7: 107,413,821 (GRCm39) |
T10I |
probably damaging |
Het |
| Pcdh18 |
A |
G |
3: 49,707,786 (GRCm39) |
L895P |
probably damaging |
Het |
| Pibf1 |
C |
T |
14: 99,480,345 (GRCm39) |
T707M |
probably benign |
Het |
| Ptk2b |
A |
T |
14: 66,410,844 (GRCm39) |
Y418N |
possibly damaging |
Het |
| Ptx4 |
T |
G |
17: 25,343,930 (GRCm39) |
Y393* |
probably null |
Het |
| Sass6 |
C |
A |
3: 116,422,354 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Spatc1l |
T |
C |
10: 76,398,264 (GRCm39) |
V22A |
probably damaging |
Het |
| Strc |
T |
C |
2: 121,195,279 (GRCm39) |
E1668G |
probably damaging |
Het |
| Sun5 |
T |
C |
2: 153,709,426 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
C |
T |
4: 58,084,809 (GRCm39) |
|
probably null |
Het |
| Tektl1 |
C |
A |
10: 78,588,234 (GRCm39) |
|
probably benign |
Het |
| Xylt2 |
A |
T |
11: 94,558,536 (GRCm39) |
I540N |
probably benign |
Het |
| Zfp804b |
T |
C |
5: 6,820,723 (GRCm39) |
N780S |
probably benign |
Het |
| Zfp983 |
T |
A |
17: 21,876,520 (GRCm39) |
M8K |
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 |
|
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 |
|
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'- TGGGCCCTTTAACCAGGAATG -3'
(R):5'- TGTGATACCCTGACAAAAGCAATG -3'
Sequencing Primer
(F):5'- GCCCTTTAACCAGGAATGTTTTAAGG -3'
(R):5'- AAGTCAGTCTCCCAGGTGATC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation