Incidental Mutation 'R3010:Pacs2'
| ID |
257480 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3010 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
112978128-113038021 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113024700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 427
(S427P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152439
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084891]
[ENSMUST00000220541]
[ENSMUST00000223502]
|
| AlphaFold |
Q3V3Q7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084891
AA Change: S427P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000081953
Gene: ENSMUSG00000021143
AA Change: S427P
| 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 benign
Transcript: ENSMUST00000220541
AA Change: S397P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220715
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223502
AA Change: S427P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| 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: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armc8 |
T |
C |
9: 99,369,966 (GRCm39) |
E591G |
probably benign |
Het |
| Cers5 |
A |
G |
15: 99,670,598 (GRCm39) |
|
probably benign |
Het |
| Cgrrf1 |
T |
C |
14: 47,091,223 (GRCm39) |
V249A |
probably benign |
Het |
| Kctd1 |
T |
C |
18: 15,107,143 (GRCm39) |
E178G |
probably damaging |
Het |
| Mpp7 |
G |
A |
18: 7,461,678 (GRCm39) |
P65L |
possibly damaging |
Het |
| Mx2 |
T |
C |
16: 97,347,999 (GRCm39) |
V208A |
possibly damaging |
Het |
| Pdzrn4 |
A |
G |
15: 92,667,692 (GRCm39) |
I615V |
probably benign |
Het |
| Ptpn1 |
C |
A |
2: 167,816,742 (GRCm39) |
Q266K |
probably damaging |
Het |
| Snx18 |
G |
A |
13: 113,753,422 (GRCm39) |
Q504* |
probably null |
Het |
| Sppl2c |
C |
T |
11: 104,078,141 (GRCm39) |
P314S |
probably benign |
Het |
| Tbx15 |
A |
G |
3: 99,161,209 (GRCm39) |
|
probably benign |
Het |
| Tdrd6 |
G |
A |
17: 43,938,933 (GRCm39) |
T705I |
probably benign |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Vmn2r113 |
T |
C |
17: 23,177,105 (GRCm39) |
S630P |
probably damaging |
Het |
| Zdbf2 |
T |
A |
1: 63,342,224 (GRCm39) |
V201D |
possibly damaging |
Het |
| Zer1 |
A |
G |
2: 30,003,297 (GRCm39) |
I40T |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGCTTCCATGCCACTGAG -3'
(R):5'- CCTATGACTGTCTTCTCACAGCAG -3'
Sequencing Primer
(F):5'- TTCCATGCCACTGAGGGCTC -3'
(R):5'- AGGTTTGCCCAGTCCTCCAG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation