Incidental Mutation 'IGL02052:Papss2'
| ID |
185115 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Papss2
|
| Ensembl Gene |
ENSMUSG00000024899 |
| Gene Name |
3'-phosphoadenosine 5'-phosphosulfate synthase 2 |
| Synonyms |
Sk2, Atpsk2, 1810018P12Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.180)
|
| Stock # |
IGL02052
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
32573190-32644587 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32637983 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 365
(V365A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025833
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025833]
|
| AlphaFold |
O88428 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025833
AA Change: V365A
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000025833
Gene: ENSMUSG00000024899
AA Change: V365A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:APS_kinase
|
42 |
200 |
2.3e-74 |
PFAM |
|
low complexity region
|
204 |
214 |
N/A |
INTRINSIC |
|
Pfam:PUA_2
|
216 |
382 |
4e-52 |
PFAM |
|
Pfam:ATP-sulfurylase
|
390 |
613 |
1.9e-70 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sulfation is a common modification of endogenous (lipids, proteins, and carbohydrates) and exogenous (xenobiotics and drugs) compounds. In mammals, the sulfate source is 3'-phosphoadenosine 5'-phosphosulfate (PAPS), created from ATP and inorganic sulfate. Two different tissue isoforms encoded by different genes synthesize PAPS. This gene encodes one of the two PAPS synthetases. Defects in this gene cause the Pakistani type of spondyloepimetaphyseal dysplasia. Two alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for mutation s in this gene display delayed growth and shorter limbs and other abnormalities in bone formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef37 |
C |
T |
18: 61,632,839 (GRCm39) |
V533M |
probably damaging |
Het |
| Bicd2 |
A |
G |
13: 49,532,665 (GRCm39) |
D343G |
possibly damaging |
Het |
| Ccl26 |
C |
T |
5: 135,592,193 (GRCm39) |
S48N |
possibly damaging |
Het |
| Cdkn1b |
A |
T |
6: 134,897,970 (GRCm39) |
R30* |
probably null |
Het |
| Cds1 |
G |
T |
5: 101,962,338 (GRCm39) |
V318L |
probably benign |
Het |
| Ceacam11 |
A |
G |
7: 17,707,548 (GRCm39) |
S111G |
probably benign |
Het |
| Cntn1 |
A |
C |
15: 92,189,584 (GRCm39) |
I636L |
possibly damaging |
Het |
| Cog2 |
G |
A |
8: 125,269,627 (GRCm39) |
|
probably null |
Het |
| Cyp2g1 |
G |
A |
7: 26,513,719 (GRCm39) |
|
probably benign |
Het |
| Ddx54 |
T |
C |
5: 120,763,783 (GRCm39) |
V644A |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 30,990,743 (GRCm39) |
Q3192R |
probably damaging |
Het |
| Dyrk2 |
T |
G |
10: 118,696,448 (GRCm39) |
H270P |
probably damaging |
Het |
| Ephb6 |
A |
G |
6: 41,590,256 (GRCm39) |
T3A |
probably benign |
Het |
| Fam120a |
G |
A |
13: 49,087,421 (GRCm39) |
|
probably benign |
Het |
| Fam184a |
A |
G |
10: 53,573,216 (GRCm39) |
|
probably benign |
Het |
| Fmo1 |
A |
G |
1: 162,677,629 (GRCm39) |
|
probably null |
Het |
| Gaa |
A |
G |
11: 119,175,021 (GRCm39) |
Y874C |
possibly damaging |
Het |
| Gabrr1 |
T |
A |
4: 33,152,567 (GRCm39) |
I169N |
probably damaging |
Het |
| Gm13734 |
T |
C |
2: 86,966,665 (GRCm39) |
|
probably null |
Het |
| Gnb1 |
T |
C |
4: 155,618,148 (GRCm39) |
|
probably benign |
Het |
| Hecw2 |
G |
T |
1: 53,965,670 (GRCm39) |
F385L |
probably benign |
Het |
| Kif5a |
C |
T |
10: 127,079,368 (GRCm39) |
V277M |
probably damaging |
Het |
| Mogat2 |
A |
T |
7: 98,887,771 (GRCm39) |
M1K |
probably null |
Het |
| Mrgprx2 |
A |
T |
7: 48,132,042 (GRCm39) |
W259R |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,303,553 (GRCm39) |
L410S |
probably damaging |
Het |
| Ntn4 |
T |
G |
10: 93,543,211 (GRCm39) |
N312K |
probably damaging |
Het |
| Pde4c |
A |
G |
8: 71,201,062 (GRCm39) |
N420S |
probably damaging |
Het |
| Plec |
C |
T |
15: 76,064,541 (GRCm39) |
R1911H |
probably damaging |
Het |
| Pramel21 |
A |
C |
4: 143,341,643 (GRCm39) |
D24A |
probably benign |
Het |
| Rnf19b |
A |
G |
4: 128,965,613 (GRCm39) |
H237R |
probably damaging |
Het |
| Slfn4 |
T |
C |
11: 83,077,800 (GRCm39) |
L196P |
possibly damaging |
Het |
| Steap2 |
G |
T |
5: 5,723,586 (GRCm39) |
F431L |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 34,072,493 (GRCm39) |
E2680G |
probably benign |
Het |
| Tmprss15 |
A |
T |
16: 78,884,394 (GRCm39) |
I96N |
probably damaging |
Het |
| Trim34a |
T |
G |
7: 103,897,038 (GRCm39) |
V34G |
probably benign |
Het |
| Ttyh1 |
A |
G |
7: 4,133,573 (GRCm39) |
|
probably benign |
Het |
| Usp29 |
A |
C |
7: 6,965,525 (GRCm39) |
H456P |
probably benign |
Het |
| Wdfy1 |
A |
G |
1: 79,692,661 (GRCm39) |
S219P |
probably damaging |
Het |
| Zfp738 |
A |
T |
13: 67,819,600 (GRCm39) |
S117R |
possibly damaging |
Het |
|
| Other mutations in Papss2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01597:Papss2
|
APN |
19 |
32,615,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01646:Papss2
|
APN |
19 |
32,629,482 (GRCm39) |
missense |
probably benign |
|
|
IGL02631:Papss2
|
APN |
19 |
32,611,404 (GRCm39) |
splice site |
probably benign |
|
|
diablo
|
UTSW |
19 |
32,615,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0091:Papss2
|
UTSW |
19 |
32,611,302 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0116:Papss2
|
UTSW |
19 |
32,615,768 (GRCm39) |
nonsense |
probably null |
|
|
R0708:Papss2
|
UTSW |
19 |
32,614,616 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1336:Papss2
|
UTSW |
19 |
32,615,715 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1488:Papss2
|
UTSW |
19 |
32,614,490 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1931:Papss2
|
UTSW |
19 |
32,616,368 (GRCm39) |
nonsense |
probably null |
|
|
R4025:Papss2
|
UTSW |
19 |
32,629,323 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4369:Papss2
|
UTSW |
19 |
32,618,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4762:Papss2
|
UTSW |
19 |
32,616,378 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5235:Papss2
|
UTSW |
19 |
32,616,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5294:Papss2
|
UTSW |
19 |
32,616,400 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5320:Papss2
|
UTSW |
19 |
32,615,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5721:Papss2
|
UTSW |
19 |
32,638,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5768:Papss2
|
UTSW |
19 |
32,638,119 (GRCm39) |
splice site |
probably null |
|
|
R5982:Papss2
|
UTSW |
19 |
32,616,636 (GRCm39) |
missense |
probably benign |
|
|
R6124:Papss2
|
UTSW |
19 |
32,614,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6395:Papss2
|
UTSW |
19 |
32,641,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6546:Papss2
|
UTSW |
19 |
32,640,548 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6571:Papss2
|
UTSW |
19 |
32,629,342 (GRCm39) |
splice site |
probably null |
|
|
R7055:Papss2
|
UTSW |
19 |
32,641,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7315:Papss2
|
UTSW |
19 |
32,616,625 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7726:Papss2
|
UTSW |
19 |
32,611,403 (GRCm39) |
splice site |
probably null |
|
|
R7753:Papss2
|
UTSW |
19 |
32,597,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7991:Papss2
|
UTSW |
19 |
32,629,403 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8155:Papss2
|
UTSW |
19 |
32,618,742 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8275:Papss2
|
UTSW |
19 |
32,615,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9135:Papss2
|
UTSW |
19 |
32,618,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9425:Papss2
|
UTSW |
19 |
32,615,750 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
X0028:Papss2
|
UTSW |
19 |
32,615,795 (GRCm39) |
splice site |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation