Incidental Mutation 'IGL02229:Pacs2'
| ID |
285439 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pacs2
|
| Ensembl Gene |
ENSMUSG00000021143 |
| Gene Name |
phosphofurin acidic cluster sorting protein 2 |
| Synonyms |
6720425G15Rik, Pacs1l |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02229
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
112978128-113038021 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 113020420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152439
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084891]
[ENSMUST00000220541]
[ENSMUST00000223502]
|
| AlphaFold |
Q3V3Q7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084891
|
| SMART Domains |
Protein: ENSMUSP00000081953
Gene: ENSMUSG00000021143
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
199 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
281 |
296 |
N/A |
INTRINSIC |
|
low complexity region
|
299 |
313 |
N/A |
INTRINSIC |
|
Pfam:Pacs-1
|
474 |
888 |
1.4e-208 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220541
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223502
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trap allele exhibit decreased sensitivity to TRAIL-induced spleen apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
A |
G |
5: 64,055,696 (GRCm39) |
D144G |
probably damaging |
Het |
| Adgrg1 |
G |
T |
8: 95,730,139 (GRCm39) |
D114Y |
probably damaging |
Het |
| Ago4 |
T |
A |
4: 126,405,325 (GRCm39) |
N416I |
probably benign |
Het |
| Aoc1 |
C |
T |
6: 48,882,843 (GRCm39) |
Q240* |
probably null |
Het |
| Atl1 |
G |
A |
12: 69,972,799 (GRCm39) |
V40I |
probably benign |
Het |
| Cdh2 |
T |
C |
18: 16,757,810 (GRCm39) |
I591V |
probably benign |
Het |
| Cic |
C |
A |
7: 24,990,375 (GRCm39) |
Q1959K |
probably damaging |
Het |
| Cmya5 |
C |
T |
13: 93,229,194 (GRCm39) |
E1965K |
possibly damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cspp1 |
T |
C |
1: 10,153,781 (GRCm39) |
S397P |
probably damaging |
Het |
| D130043K22Rik |
T |
C |
13: 25,059,907 (GRCm39) |
Y593H |
probably damaging |
Het |
| Dck |
A |
G |
5: 88,921,964 (GRCm39) |
Y142C |
probably damaging |
Het |
| Eea1 |
A |
T |
10: 95,854,046 (GRCm39) |
E568V |
probably damaging |
Het |
| Gabra3 |
A |
G |
X: 71,544,683 (GRCm39) |
|
probably null |
Het |
| Gucy2f |
A |
G |
X: 140,962,984 (GRCm39) |
S342P |
probably benign |
Het |
| Hbb-bh1 |
T |
A |
7: 103,492,032 (GRCm39) |
I61F |
possibly damaging |
Het |
| Hook1 |
T |
C |
4: 95,889,488 (GRCm39) |
S235P |
possibly damaging |
Het |
| Hoxd12 |
G |
A |
2: 74,506,278 (GRCm39) |
R230H |
probably damaging |
Het |
| Iglc2 |
C |
T |
16: 19,017,483 (GRCm39) |
A41T |
probably benign |
Het |
| Il1r1 |
A |
G |
1: 40,352,518 (GRCm39) |
K566E |
probably damaging |
Het |
| Kcns3 |
A |
T |
12: 11,142,093 (GRCm39) |
M202K |
probably damaging |
Het |
| Krt7 |
C |
A |
15: 101,325,497 (GRCm39) |
A442D |
probably benign |
Het |
| Ltk |
C |
T |
2: 119,589,054 (GRCm39) |
R200H |
probably benign |
Het |
| Macf1 |
G |
T |
4: 123,403,619 (GRCm39) |
D582E |
probably damaging |
Het |
| Mbnl3 |
A |
T |
X: 50,228,218 (GRCm39) |
Y69N |
probably damaging |
Het |
| Mpp1 |
T |
C |
X: 74,165,034 (GRCm39) |
|
probably benign |
Het |
| Myo18b |
A |
G |
5: 113,025,976 (GRCm39) |
S25P |
unknown |
Het |
| Nsd3 |
A |
G |
8: 26,200,775 (GRCm39) |
N1289S |
probably damaging |
Het |
| Or8d1 |
T |
A |
9: 38,766,712 (GRCm39) |
M118K |
possibly damaging |
Het |
| Rab3gap2 |
A |
G |
1: 184,991,580 (GRCm39) |
K689E |
possibly damaging |
Het |
| Sva |
T |
A |
6: 42,019,156 (GRCm39) |
C109S |
probably damaging |
Het |
| Taf3 |
T |
C |
2: 9,957,645 (GRCm39) |
N174S |
probably damaging |
Het |
| Tbc1d5 |
A |
T |
17: 51,159,628 (GRCm39) |
M393K |
probably damaging |
Het |
| Tmem242 |
A |
T |
17: 5,461,682 (GRCm39) |
S129T |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,701,513 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Pacs2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01774:Pacs2
|
APN |
12 |
113,020,462 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01830:Pacs2
|
APN |
12 |
113,020,574 (GRCm39) |
nonsense |
probably null |
|
|
IGL02307:Pacs2
|
APN |
12 |
113,034,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02700:Pacs2
|
APN |
12 |
113,025,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB003:Pacs2
|
UTSW |
12 |
113,024,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB013:Pacs2
|
UTSW |
12 |
113,024,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0241:Pacs2
|
UTSW |
12 |
113,032,890 (GRCm39) |
splice site |
probably benign |
|
|
R0433:Pacs2
|
UTSW |
12 |
113,020,464 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0512:Pacs2
|
UTSW |
12 |
113,014,547 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0761:Pacs2
|
UTSW |
12 |
113,023,688 (GRCm39) |
splice site |
probably benign |
|
|
R2017:Pacs2
|
UTSW |
12 |
113,026,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2070:Pacs2
|
UTSW |
12 |
113,024,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2162:Pacs2
|
UTSW |
12 |
113,014,567 (GRCm39) |
missense |
probably benign |
|
|
R2231:Pacs2
|
UTSW |
12 |
113,026,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2232:Pacs2
|
UTSW |
12 |
113,026,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2396:Pacs2
|
UTSW |
12 |
113,026,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2397:Pacs2
|
UTSW |
12 |
113,026,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3010:Pacs2
|
UTSW |
12 |
113,024,700 (GRCm39) |
missense |
probably benign |
|
|
R3403:Pacs2
|
UTSW |
12 |
113,014,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3950:Pacs2
|
UTSW |
12 |
113,024,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3952:Pacs2
|
UTSW |
12 |
113,024,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4518:Pacs2
|
UTSW |
12 |
113,024,289 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5673:Pacs2
|
UTSW |
12 |
113,032,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5693:Pacs2
|
UTSW |
12 |
113,013,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7212:Pacs2
|
UTSW |
12 |
113,025,312 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7926:Pacs2
|
UTSW |
12 |
113,024,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8032:Pacs2
|
UTSW |
12 |
113,025,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8224:Pacs2
|
UTSW |
12 |
113,023,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8944:Pacs2
|
UTSW |
12 |
113,020,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9036:Pacs2
|
UTSW |
12 |
113,026,104 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9253:Pacs2
|
UTSW |
12 |
113,014,137 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9461:Pacs2
|
UTSW |
12 |
113,010,727 (GRCm39) |
missense |
probably benign |
0.36 |
|
Z1177:Pacs2
|
UTSW |
12 |
113,034,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation