Incidental Mutation 'IGL02700:Pacs2'
ID |
304096 |
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 # |
IGL02700
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
112978128-113038021 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 113025330 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 494
(I494N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152439
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084891]
[ENSMUST00000220541]
[ENSMUST00000223502]
|
AlphaFold |
Q3V3Q7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000084891
AA Change: I492N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000081953 Gene: ENSMUSG00000021143 AA Change: I492N
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 |
noncoding transcript
Transcript: ENSMUST00000197963
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220541
AA Change: I462N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220715
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223502
AA Change: I494N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018B08Rik |
C |
A |
8: 122,262,161 (GRCm39) |
|
probably null |
Het |
Acacb |
A |
G |
5: 114,356,942 (GRCm39) |
Y1291C |
probably damaging |
Het |
Agtpbp1 |
C |
T |
13: 59,676,233 (GRCm39) |
C179Y |
probably damaging |
Het |
Capn15 |
T |
C |
17: 26,181,982 (GRCm39) |
D609G |
probably damaging |
Het |
Cnnm3 |
T |
A |
1: 36,552,189 (GRCm39) |
F400I |
probably damaging |
Het |
Dst |
A |
C |
1: 34,301,201 (GRCm39) |
E1189A |
probably damaging |
Het |
Gcnt1 |
G |
A |
19: 17,306,780 (GRCm39) |
T315I |
probably damaging |
Het |
H2-M1 |
T |
C |
17: 36,982,161 (GRCm39) |
I147V |
possibly damaging |
Het |
Hk1 |
T |
C |
10: 62,120,590 (GRCm39) |
N536D |
probably damaging |
Het |
Klhl5 |
C |
T |
5: 65,288,773 (GRCm39) |
Q12* |
probably null |
Het |
Lgals12 |
C |
T |
19: 7,575,455 (GRCm39) |
A294T |
probably benign |
Het |
Mideas |
T |
C |
12: 84,199,636 (GRCm39) |
N1028S |
probably benign |
Het |
Mki67 |
G |
T |
7: 135,309,931 (GRCm39) |
S173R |
probably benign |
Het |
Nedd4l |
C |
T |
18: 65,342,751 (GRCm39) |
R755C |
probably damaging |
Het |
Obox5 |
A |
G |
7: 15,492,888 (GRCm39) |
D281G |
possibly damaging |
Het |
Or4f6 |
T |
C |
2: 111,839,036 (GRCm39) |
D165G |
probably benign |
Het |
Pax5 |
G |
T |
4: 44,682,722 (GRCm39) |
T141K |
probably damaging |
Het |
Phf21b |
T |
C |
15: 84,687,662 (GRCm39) |
N230S |
probably benign |
Het |
Rab3gap1 |
G |
T |
1: 127,866,342 (GRCm39) |
A841S |
probably benign |
Het |
Siglecf |
T |
C |
7: 43,001,802 (GRCm39) |
L204P |
probably damaging |
Het |
Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
Snca |
G |
A |
6: 60,804,521 (GRCm39) |
T22I |
possibly damaging |
Het |
Syvn1 |
A |
G |
19: 6,097,973 (GRCm39) |
T4A |
probably benign |
Het |
Usp36 |
T |
C |
11: 118,166,983 (GRCm39) |
N298S |
possibly damaging |
Het |
Usp42 |
A |
T |
5: 143,702,883 (GRCm39) |
S579R |
probably benign |
Het |
Vezf1 |
T |
C |
11: 87,964,129 (GRCm39) |
S94P |
probably damaging |
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 |
|
IGL02229:Pacs2
|
APN |
12 |
113,020,420 (GRCm39) |
splice site |
probably benign |
|
IGL02307:Pacs2
|
APN |
12 |
113,034,393 (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 |