Incidental Mutation 'IGL01830:Pacs2'
ID |
154748 |
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 # |
IGL01830
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
112978128-113038021 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 113020574 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 316
(K316*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152439
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084891]
[ENSMUST00000220541]
[ENSMUST00000223502]
|
AlphaFold |
Q3V3Q7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000084891
AA Change: K316*
|
SMART Domains |
Protein: ENSMUSP00000081953 Gene: ENSMUSG00000021143 AA Change: K316*
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 null
Transcript: ENSMUST00000220541
AA Change: K286*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000223502
AA Change: K316*
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahsg |
C |
A |
16: 22,717,779 (GRCm39) |
P252Q |
probably damaging |
Het |
Anks4b |
T |
A |
7: 119,773,219 (GRCm39) |
N26K |
probably damaging |
Het |
Arrdc5 |
C |
T |
17: 56,601,652 (GRCm39) |
V158I |
probably damaging |
Het |
Catsper2 |
T |
C |
2: 121,237,843 (GRCm39) |
D179G |
probably damaging |
Het |
Cd44 |
T |
C |
2: 102,672,603 (GRCm39) |
|
probably benign |
Het |
Ceacam3 |
T |
A |
7: 16,888,925 (GRCm39) |
D231E |
possibly damaging |
Het |
Cep57l1 |
C |
T |
10: 41,604,649 (GRCm39) |
C160Y |
probably benign |
Het |
Chek2 |
T |
A |
5: 111,021,374 (GRCm39) |
L528Q |
probably benign |
Het |
Ciita |
T |
C |
16: 10,338,915 (GRCm39) |
L973P |
probably damaging |
Het |
Dock2 |
A |
T |
11: 34,582,744 (GRCm39) |
L637* |
probably null |
Het |
Fsip2 |
A |
C |
2: 82,815,273 (GRCm39) |
I3669L |
probably benign |
Het |
Gapvd1 |
A |
G |
2: 34,578,968 (GRCm39) |
V1218A |
probably benign |
Het |
Gip |
T |
C |
11: 95,919,550 (GRCm39) |
L91S |
possibly damaging |
Het |
Gp2 |
T |
C |
7: 119,050,765 (GRCm39) |
D322G |
probably damaging |
Het |
Ift172 |
A |
G |
5: 31,442,636 (GRCm39) |
V177A |
probably damaging |
Het |
Kng2 |
T |
C |
16: 22,806,801 (GRCm39) |
D466G |
probably damaging |
Het |
Lpar5 |
G |
A |
6: 125,058,785 (GRCm39) |
A169T |
probably benign |
Het |
Med13 |
C |
T |
11: 86,179,754 (GRCm39) |
|
probably benign |
Het |
Meiob |
T |
A |
17: 25,054,105 (GRCm39) |
C391S |
probably benign |
Het |
Mgat5 |
A |
G |
1: 127,339,869 (GRCm39) |
T417A |
probably damaging |
Het |
Myo1b |
A |
T |
1: 51,836,624 (GRCm39) |
L279* |
probably null |
Het |
Myo1g |
T |
A |
11: 6,464,522 (GRCm39) |
K513* |
probably null |
Het |
Nxpe2 |
A |
T |
9: 48,237,794 (GRCm39) |
S154T |
probably damaging |
Het |
Ogn |
C |
T |
13: 49,762,723 (GRCm39) |
Q22* |
probably null |
Het |
Or4c12 |
A |
G |
2: 89,773,775 (GRCm39) |
L228S |
probably benign |
Het |
Pelo |
T |
A |
13: 115,225,131 (GRCm39) |
I365F |
probably damaging |
Het |
Phf3 |
G |
A |
1: 30,853,148 (GRCm39) |
Q1021* |
probably null |
Het |
Pik3r4 |
A |
G |
9: 105,522,154 (GRCm39) |
D240G |
probably damaging |
Het |
Pknox1 |
T |
C |
17: 31,814,284 (GRCm39) |
M203T |
probably benign |
Het |
Pld1 |
T |
C |
3: 28,102,153 (GRCm39) |
|
probably benign |
Het |
Rabgef1 |
G |
T |
5: 130,240,907 (GRCm39) |
C342F |
possibly damaging |
Het |
Rbm19 |
A |
C |
5: 120,262,760 (GRCm39) |
K307T |
possibly damaging |
Het |
Sdcbp2 |
T |
A |
2: 151,431,494 (GRCm39) |
I289N |
probably damaging |
Het |
Slc5a12 |
G |
A |
2: 110,428,151 (GRCm39) |
G69R |
probably damaging |
Het |
Spag1 |
C |
A |
15: 36,221,705 (GRCm39) |
S599R |
probably benign |
Het |
Ubr4 |
A |
T |
4: 139,199,811 (GRCm39) |
D4565V |
probably damaging |
Het |
Usp34 |
G |
A |
11: 23,386,020 (GRCm39) |
R2149H |
probably damaging |
Het |
Vmn1r225 |
T |
C |
17: 20,722,717 (GRCm39) |
S53P |
probably damaging |
Het |
Xrcc1 |
T |
A |
7: 24,272,767 (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 |
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 |
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 |
2014-02-04 |