Incidental Mutation 'R6546:Papss2'
| ID |
521230 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Papss2
|
| Ensembl Gene |
ENSMUSG00000024899 |
| Gene Name |
3'-phosphoadenosine 5'-phosphosulfate synthase 2 |
| Synonyms |
Sk2, Atpsk2, 1810018P12Rik |
| MMRRC Submission |
045325-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R6546 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
32573190-32644587 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32640548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 440
(Y440C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025833
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025833]
|
| AlphaFold |
O88428 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025833
AA Change: Y440C
PolyPhen 2
Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000025833
Gene: ENSMUSG00000024899
AA Change: Y440C
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (35/35) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl3 |
T |
A |
6: 34,776,234 (GRCm39) |
L242M |
probably damaging |
Het |
| Atad2b |
A |
T |
12: 5,040,949 (GRCm39) |
H206L |
probably damaging |
Het |
| Bmp2k |
A |
G |
5: 97,235,937 (GRCm39) |
Q1120R |
probably benign |
Het |
| Cdk18 |
G |
A |
1: 132,050,088 (GRCm39) |
T29I |
probably damaging |
Het |
| Chrna3 |
T |
A |
9: 54,923,185 (GRCm39) |
I208F |
probably damaging |
Het |
| Dhrs1 |
G |
A |
14: 55,978,729 (GRCm39) |
P140S |
possibly damaging |
Het |
| Dnah14 |
C |
T |
1: 181,566,552 (GRCm39) |
R2775C |
probably damaging |
Het |
| Fnip1 |
T |
G |
11: 54,393,437 (GRCm39) |
N600K |
probably benign |
Het |
| Garin5b |
T |
C |
7: 4,761,464 (GRCm39) |
D416G |
probably benign |
Het |
| Jmjd6 |
T |
C |
11: 116,733,326 (GRCm39) |
Y117C |
probably damaging |
Het |
| Kbtbd4 |
T |
A |
2: 90,739,635 (GRCm39) |
V340E |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,755,871 (GRCm39) |
V1995A |
probably damaging |
Het |
| Krt10 |
T |
C |
11: 99,278,221 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,326,074 (GRCm39) |
D3022G |
probably benign |
Het |
| Map3k13 |
C |
T |
16: 21,740,527 (GRCm39) |
T618I |
probably benign |
Het |
| Mat1a |
G |
A |
14: 40,843,379 (GRCm39) |
V302M |
probably damaging |
Het |
| Med13l |
T |
C |
5: 118,859,539 (GRCm39) |
F242S |
probably damaging |
Het |
| Npffr2 |
A |
T |
5: 89,730,871 (GRCm39) |
K267M |
probably damaging |
Het |
| Nup58 |
A |
T |
14: 60,460,672 (GRCm39) |
|
probably null |
Het |
| Ppil4 |
T |
A |
10: 7,674,186 (GRCm39) |
I110N |
probably damaging |
Het |
| Qrfpr |
G |
A |
3: 36,234,414 (GRCm39) |
T309I |
probably damaging |
Het |
| Rbl2 |
C |
A |
8: 91,796,998 (GRCm39) |
S65R |
probably benign |
Het |
| Rchy1 |
G |
A |
5: 92,105,817 (GRCm39) |
H44Y |
probably damaging |
Het |
| Slc19a3 |
T |
C |
1: 83,004,081 (GRCm39) |
T7A |
probably benign |
Het |
| St7 |
C |
T |
6: 17,852,313 (GRCm39) |
A233V |
probably damaging |
Het |
| Syn2 |
T |
A |
6: 115,258,059 (GRCm39) |
S546T |
probably benign |
Het |
| Syne1 |
A |
T |
10: 5,168,645 (GRCm39) |
Y5245* |
probably null |
Het |
| Trmt6 |
A |
G |
2: 132,654,073 (GRCm39) |
W52R |
probably benign |
Het |
| Ubr4 |
G |
A |
4: 139,141,705 (GRCm39) |
V1264M |
probably damaging |
Het |
| Ulk4 |
A |
T |
9: 120,970,960 (GRCm39) |
V1004D |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r27 |
T |
A |
6: 124,169,369 (GRCm39) |
H587L |
possibly damaging |
Het |
| Vmn2r79 |
A |
G |
7: 86,652,741 (GRCm39) |
R478G |
probably benign |
Het |
| Zp2 |
T |
C |
7: 119,731,748 (GRCm39) |
E669G |
probably benign |
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 |
|
|
IGL02052:Papss2
|
APN |
19 |
32,637,983 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTAACAACCCAGGCATGGTC -3'
(R):5'- CTCAGGGAATTGCTCACCTC -3'
Sequencing Primer
(F):5'- GGTCTCCCATTATCAACAGCTAG -3'
(R):5'- TCTGTGGGACCAGCATATAAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation