Incidental Mutation 'R7125:Sulf2'
ID |
552254 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sulf2
|
Ensembl Gene |
ENSMUSG00000006800 |
Gene Name |
sulfatase 2 |
Synonyms |
2010004N24Rik |
MMRRC Submission |
045327-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.313)
|
Stock # |
R7125 (G1)
|
Quality Score |
213.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
165915819-165997603 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 165917448 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Stop codon
at position 855
(W855*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085405
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088086]
[ENSMUST00000088095]
[ENSMUST00000109249]
[ENSMUST00000109252]
[ENSMUST00000146497]
|
AlphaFold |
Q8CFG0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000088086
AA Change: W855*
|
SMART Domains |
Protein: ENSMUSP00000085405 Gene: ENSMUSG00000006800 AA Change: W855*
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: ENSMUST00000088095
|
SMART Domains |
Protein: ENSMUSP00000085416 Gene: ENSMUSG00000027678
Domain | Start | End | E-Value | Type |
HLH
|
32 |
89 |
5.63e-9 |
SMART |
PAS
|
113 |
179 |
1.16e-11 |
SMART |
Pfam:PAS_11
|
261 |
372 |
1.6e-34 |
PFAM |
Pfam:NCOA_u2
|
451 |
564 |
7.1e-46 |
PFAM |
low complexity region
|
586 |
599 |
N/A |
INTRINSIC |
Pfam:SRC-1
|
608 |
696 |
1.6e-32 |
PFAM |
Pfam:DUF4927
|
714 |
801 |
2e-32 |
PFAM |
coiled coil region
|
960 |
997 |
N/A |
INTRINSIC |
Pfam:Nuc_rec_co-act
|
1056 |
1104 |
2.1e-27 |
PFAM |
low complexity region
|
1180 |
1197 |
N/A |
INTRINSIC |
low complexity region
|
1221 |
1233 |
N/A |
INTRINSIC |
low complexity region
|
1243 |
1263 |
N/A |
INTRINSIC |
DUF1518
|
1270 |
1327 |
1.08e-21 |
SMART |
low complexity region
|
1384 |
1398 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000109249
AA Change: W855*
|
SMART Domains |
Protein: ENSMUSP00000104872 Gene: ENSMUSG00000006800 AA Change: W855*
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: ENSMUST00000109252
|
SMART Domains |
Protein: ENSMUSP00000104875 Gene: ENSMUSG00000027678
Domain | Start | End | E-Value | Type |
HLH
|
32 |
89 |
5.63e-9 |
SMART |
PAS
|
113 |
179 |
1.16e-11 |
SMART |
Pfam:PAS_11
|
261 |
372 |
4.1e-34 |
PFAM |
low complexity region
|
438 |
467 |
N/A |
INTRINSIC |
low complexity region
|
502 |
522 |
N/A |
INTRINSIC |
low complexity region
|
527 |
535 |
N/A |
INTRINSIC |
low complexity region
|
586 |
599 |
N/A |
INTRINSIC |
Pfam:SRC-1
|
608 |
696 |
3.5e-28 |
PFAM |
coiled coil region
|
960 |
997 |
N/A |
INTRINSIC |
Pfam:Nuc_rec_co-act
|
1056 |
1106 |
6.6e-29 |
PFAM |
low complexity region
|
1180 |
1197 |
N/A |
INTRINSIC |
low complexity region
|
1218 |
1232 |
N/A |
INTRINSIC |
low complexity region
|
1242 |
1262 |
N/A |
INTRINSIC |
DUF1518
|
1269 |
1326 |
1.08e-21 |
SMART |
low complexity region
|
1383 |
1397 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000146497
AA Change: W855*
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
96% (48/50) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730455P16Rik |
A |
T |
11: 80,255,751 (GRCm39) |
C296S |
probably damaging |
Het |
Ago3 |
T |
C |
4: 126,264,145 (GRCm39) |
I354V |
probably null |
Het |
Aldh1l1 |
G |
A |
6: 90,553,761 (GRCm39) |
|
probably null |
Het |
Ankrd49 |
TAA |
TA |
9: 14,693,836 (GRCm39) |
|
probably null |
Het |
B3gnt7 |
A |
G |
1: 86,233,099 (GRCm39) |
Y115C |
probably damaging |
Het |
Cacna1h |
A |
T |
17: 25,602,510 (GRCm39) |
M1506K |
probably damaging |
Het |
Cars1 |
T |
C |
7: 143,138,510 (GRCm39) |
T226A |
probably benign |
Het |
Ccdc28b |
T |
A |
4: 129,514,885 (GRCm39) |
T75S |
probably benign |
Het |
Cdc42bpg |
A |
G |
19: 6,372,321 (GRCm39) |
I1436V |
probably damaging |
Het |
Cep152 |
A |
T |
2: 125,408,593 (GRCm39) |
Y1320* |
probably null |
Het |
Cntnap2 |
A |
T |
6: 46,965,580 (GRCm39) |
Y797F |
probably benign |
Het |
Coq8a |
T |
A |
1: 179,996,366 (GRCm39) |
N490I |
probably damaging |
Het |
Csmd2 |
T |
C |
4: 128,389,955 (GRCm39) |
L2230P |
|
Het |
Cyp4a14 |
A |
T |
4: 115,348,358 (GRCm39) |
I373N |
probably damaging |
Het |
Ddx1 |
A |
G |
12: 13,293,864 (GRCm39) |
S86P |
probably benign |
Het |
Dennd3 |
A |
T |
15: 73,405,140 (GRCm39) |
I298F |
possibly damaging |
Het |
Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,327,008 (GRCm39) |
T3533A |
probably damaging |
Het |
Fam53b |
T |
C |
7: 132,373,357 (GRCm39) |
H27R |
probably damaging |
Het |
Firrm |
T |
C |
1: 163,789,631 (GRCm39) |
T635A |
probably benign |
Het |
Fyb1 |
G |
A |
15: 6,674,337 (GRCm39) |
E658K |
possibly damaging |
Het |
Gapvd1 |
T |
C |
2: 34,585,612 (GRCm39) |
S996G |
probably benign |
Het |
Gm47959 |
G |
A |
1: 82,978,503 (GRCm39) |
G57S |
unknown |
Het |
Golgb1 |
T |
A |
16: 36,738,325 (GRCm39) |
H2262Q |
possibly damaging |
Het |
Gpam |
T |
C |
19: 55,064,767 (GRCm39) |
T646A |
probably benign |
Het |
Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
Hexd |
C |
T |
11: 121,095,496 (GRCm39) |
|
probably benign |
Het |
Micu2 |
A |
T |
14: 58,209,238 (GRCm39) |
Y73* |
probably null |
Het |
N4bp2l2 |
T |
C |
5: 150,573,894 (GRCm39) |
|
probably null |
Het |
Or11h7 |
T |
C |
14: 50,891,041 (GRCm39) |
C116R |
possibly damaging |
Het |
Or1e31 |
T |
C |
11: 73,689,990 (GRCm39) |
M198V |
probably benign |
Het |
Or1m1 |
A |
T |
9: 18,666,174 (GRCm39) |
Y252* |
probably null |
Het |
Or51t4 |
T |
C |
7: 102,598,386 (GRCm39) |
V238A |
probably damaging |
Het |
Or5b112 |
A |
T |
19: 13,319,103 (GRCm39) |
|
probably null |
Het |
P3r3urf |
A |
G |
4: 116,030,667 (GRCm39) |
M24V |
probably benign |
Het |
Prkca |
A |
G |
11: 107,874,848 (GRCm39) |
Y365H |
probably damaging |
Het |
Ptpre |
C |
T |
7: 135,255,744 (GRCm39) |
R155* |
probably null |
Het |
Ryr2 |
T |
A |
13: 11,684,873 (GRCm39) |
N3023Y |
probably damaging |
Het |
S100a7a |
A |
G |
3: 90,562,822 (GRCm39) |
D3G |
probably benign |
Het |
Scn2a |
T |
C |
2: 65,594,277 (GRCm39) |
F1709L |
probably damaging |
Het |
Slc15a2 |
T |
C |
16: 36,602,660 (GRCm39) |
E67G |
probably damaging |
Het |
Slc25a22 |
A |
G |
7: 141,011,655 (GRCm39) |
L195P |
probably damaging |
Het |
Sp140 |
TTTTTTTTTTTTT |
TTTTTTTTTTTTTTTTTT |
1: 85,572,290 (GRCm39) |
|
probably benign |
Het |
Stim1 |
T |
A |
7: 102,084,741 (GRCm39) |
H564Q |
possibly damaging |
Het |
Tenm3 |
T |
C |
8: 49,127,588 (GRCm39) |
N30S |
probably benign |
Het |
Trim59 |
T |
C |
3: 68,944,197 (GRCm39) |
D381G |
probably benign |
Het |
Ttc21b |
T |
C |
2: 66,066,670 (GRCm39) |
T328A |
probably benign |
Het |
Ttc6 |
C |
G |
12: 57,623,125 (GRCm39) |
Q175E |
probably benign |
Het |
Vmn2r44 |
T |
C |
7: 8,370,941 (GRCm39) |
I702V |
probably damaging |
Het |
Zfp768 |
A |
T |
7: 126,943,959 (GRCm39) |
F59L |
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 |
|
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 |
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'- TACCATCTTAGCAGGGGAGG -3'
(R):5'- TGAGAAACTGTCTGTCTAGGGC -3'
Sequencing Primer
(F):5'- GGTAATAAAGATAGACCCAGCCCTG -3'
(R):5'- ACTGTCTGTCTAGGGCATAATGAC -3'
|
Posted On |
2019-05-15 |