Incidental Mutation 'R6816:Sulf2'
| ID |
537320 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sulf2
|
| Ensembl Gene |
ENSMUSG00000006800 |
| Gene Name |
sulfatase 2 |
| Synonyms |
2010004N24Rik |
| MMRRC Submission |
044928-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.261)
|
| Stock # |
R6816 (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 C
at 165924674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 471
(T471A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154557
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088086]
[ENSMUST00000109249]
[ENSMUST00000146497]
|
| AlphaFold |
Q8CFG0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088086
AA Change: T471A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000085405
Gene: ENSMUSG00000006800
AA Change: T471A
| 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: T471A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104872
Gene: ENSMUSG00000006800
AA Change: T471A
| 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: ENSMUST00000146497
AA Change: T471A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
96% (49/51) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg5 |
A |
G |
8: 95,668,311 (GRCm39) |
T458A |
probably damaging |
Het |
| Ajm1 |
C |
CTCTA |
2: 25,469,733 (GRCm39) |
|
probably null |
Het |
| Ankrd36 |
T |
G |
11: 5,593,765 (GRCm39) |
F457V |
possibly damaging |
Het |
| Cep152 |
T |
C |
2: 125,436,947 (GRCm39) |
E531G |
probably damaging |
Het |
| Dpf1 |
A |
C |
7: 29,011,087 (GRCm39) |
D162A |
possibly damaging |
Het |
| E2f8 |
A |
T |
7: 48,525,331 (GRCm39) |
Y214N |
possibly damaging |
Het |
| Fer1l5 |
A |
T |
1: 36,445,591 (GRCm39) |
Y786F |
possibly damaging |
Het |
| Fhod1 |
G |
T |
8: 106,057,176 (GRCm39) |
Q933K |
probably benign |
Het |
| Gdap2 |
T |
C |
3: 100,099,021 (GRCm39) |
|
probably null |
Het |
| Grin2d |
A |
G |
7: 45,483,106 (GRCm39) |
|
probably benign |
Het |
| H2bc22 |
C |
T |
13: 21,971,947 (GRCm39) |
S88L |
probably benign |
Het |
| Hgs |
T |
A |
11: 120,362,397 (GRCm39) |
V112D |
probably damaging |
Het |
| Igf2r |
A |
T |
17: 12,932,969 (GRCm39) |
V851E |
probably damaging |
Het |
| Igfn1 |
T |
A |
1: 135,887,466 (GRCm39) |
T2533S |
probably benign |
Het |
| Iqch |
C |
T |
9: 63,388,041 (GRCm39) |
V750I |
probably benign |
Het |
| Itih2 |
A |
G |
2: 10,110,517 (GRCm39) |
Y525H |
probably damaging |
Het |
| Kcnu1 |
C |
T |
8: 26,427,762 (GRCm39) |
Q360* |
probably null |
Het |
| Klk1b26 |
A |
G |
7: 43,666,292 (GRCm39) |
N245S |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,610,530 (GRCm39) |
|
probably null |
Het |
| Lhpp |
T |
C |
7: 132,235,762 (GRCm39) |
S116P |
probably benign |
Het |
| Madcam1 |
A |
G |
10: 79,501,274 (GRCm39) |
D113G |
probably damaging |
Het |
| Magi3 |
A |
T |
3: 103,997,227 (GRCm39) |
|
probably null |
Het |
| Map3k9 |
A |
G |
12: 81,769,028 (GRCm39) |
S1007P |
possibly damaging |
Het |
| Mkrn2 |
C |
T |
6: 115,588,689 (GRCm39) |
P144L |
probably damaging |
Het |
| Mon1a |
T |
C |
9: 107,777,609 (GRCm39) |
S171P |
probably damaging |
Het |
| Nrarp |
T |
C |
2: 25,071,319 (GRCm39) |
L66P |
probably damaging |
Het |
| P2ry1 |
T |
A |
3: 60,911,253 (GRCm39) |
F131I |
probably benign |
Het |
| Pdzk1 |
A |
G |
3: 96,761,886 (GRCm39) |
Q166R |
probably benign |
Het |
| Pigt |
G |
T |
2: 164,343,052 (GRCm39) |
V249F |
probably damaging |
Het |
| Ppp1r16b |
G |
T |
2: 158,603,595 (GRCm39) |
V407L |
probably benign |
Het |
| Pramel58 |
A |
T |
5: 94,831,773 (GRCm39) |
Q260L |
possibly damaging |
Het |
| Rab6a |
G |
T |
7: 100,279,080 (GRCm39) |
E73D |
probably damaging |
Het |
| Ralb |
C |
A |
1: 119,405,712 (GRCm39) |
G33* |
probably null |
Het |
| Sema3b |
T |
A |
9: 107,477,549 (GRCm39) |
M491L |
probably benign |
Het |
| Sema3c |
A |
C |
5: 17,875,463 (GRCm39) |
D40A |
probably benign |
Het |
| Slc22a1 |
T |
C |
17: 12,871,370 (GRCm39) |
N464D |
possibly damaging |
Het |
| Spire2 |
T |
A |
8: 124,086,152 (GRCm39) |
S295T |
probably benign |
Het |
| Stat3 |
T |
G |
11: 100,802,093 (GRCm39) |
Q32P |
probably damaging |
Het |
| Sult2b1 |
A |
G |
7: 45,383,102 (GRCm39) |
W227R |
probably damaging |
Het |
| Syt2 |
T |
A |
1: 134,673,538 (GRCm39) |
I294N |
probably damaging |
Het |
| Taar8b |
A |
T |
10: 23,968,079 (GRCm39) |
F38L |
probably benign |
Het |
| Tbl2 |
T |
A |
5: 135,188,069 (GRCm39) |
|
probably null |
Het |
| Tex48 |
G |
A |
4: 63,530,192 (GRCm39) |
S9L |
probably damaging |
Het |
| Tmprss2 |
A |
T |
16: 97,369,667 (GRCm39) |
M369K |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,771,435 (GRCm39) |
S280T |
probably damaging |
Het |
| Tspoap1 |
T |
C |
11: 87,656,491 (GRCm39) |
V263A |
probably benign |
Het |
| Vmn2r74 |
T |
A |
7: 85,610,621 (GRCm39) |
R24* |
probably null |
Het |
| Wdr35 |
G |
A |
12: 9,077,724 (GRCm39) |
|
probably null |
Het |
| Zfp202 |
A |
G |
9: 40,123,109 (GRCm39) |
R624G |
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 |
|
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'- TCTCAACTTTGGGCAGGCTG -3'
(R):5'- TAGGTCCAGCTAAGTGTGGACAG -3'
Sequencing Primer
(F):5'- CTTTTCTTAAAGAGCTTACGGCG -3'
(R):5'- CAGCTAAGTGTGGACAGGAGGG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation