Incidental Mutation 'R2396:Pacs2'
| ID |
248535 |
| 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 # |
R2396 (G1)
|
| Quality Score |
181 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
112978128-113038021 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 113026987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 605
(D605N)
|
| 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: D603N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000081953
Gene: ENSMUSG00000021143
AA Change: D603N
| 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: D573N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220715
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221475
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223502
AA Change: D605N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.7902 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
G |
A |
4: 86,261,356 (GRCm39) |
W1189* |
probably null |
Het |
| Col4a4 |
C |
G |
1: 82,484,793 (GRCm39) |
M491I |
unknown |
Het |
| Col5a1 |
C |
A |
2: 27,876,741 (GRCm39) |
D813E |
unknown |
Het |
| Cyp4b1 |
T |
C |
4: 115,498,843 (GRCm39) |
Y113C |
probably benign |
Het |
| Dmac1 |
A |
G |
4: 75,196,458 (GRCm39) |
F11L |
unknown |
Het |
| Dnah9 |
G |
T |
11: 65,975,984 (GRCm39) |
T1355K |
probably benign |
Het |
| Efemp1 |
G |
A |
11: 28,817,941 (GRCm39) |
R140Q |
possibly damaging |
Het |
| Elapor2 |
T |
C |
5: 9,485,395 (GRCm39) |
L519P |
possibly damaging |
Het |
| Fndc3a |
T |
C |
14: 72,921,123 (GRCm39) |
D17G |
possibly damaging |
Het |
| Grm8 |
C |
T |
6: 27,761,241 (GRCm39) |
A328T |
probably damaging |
Het |
| Lepr |
C |
A |
4: 101,590,725 (GRCm39) |
A101E |
probably benign |
Het |
| Ncapg |
A |
G |
5: 45,835,715 (GRCm39) |
N382S |
probably benign |
Het |
| Or10am5 |
C |
A |
7: 6,517,784 (GRCm39) |
V215F |
probably damaging |
Het |
| Or5m13b |
T |
C |
2: 85,754,269 (GRCm39) |
I219T |
probably benign |
Het |
| Pigb |
T |
A |
9: 72,922,553 (GRCm39) |
R11* |
probably null |
Het |
| Prl8a1 |
C |
A |
13: 27,758,007 (GRCm39) |
R234L |
probably benign |
Het |
| Spred3 |
T |
C |
7: 28,866,059 (GRCm39) |
H80R |
probably damaging |
Het |
| Sptlc3 |
T |
C |
2: 139,408,506 (GRCm39) |
I207T |
probably benign |
Het |
| Tll1 |
C |
A |
8: 64,523,324 (GRCm39) |
G463* |
probably null |
Het |
| Tm4sf4 |
T |
G |
3: 57,345,181 (GRCm39) |
C196G |
unknown |
Het |
| Tmem87a |
A |
T |
2: 120,234,540 (GRCm39) |
M1K |
probably null |
Het |
| Tmem92 |
A |
G |
11: 94,673,233 (GRCm39) |
L10P |
probably damaging |
Het |
| Trdn |
A |
T |
10: 33,071,978 (GRCm39) |
E215V |
probably damaging |
Het |
| Trpm2 |
A |
T |
10: 77,766,471 (GRCm39) |
D849E |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATGCCTTCCCTGGGAGAAC -3'
(R):5'- GTCAAGGTAAAAGCTTGGGTTG -3'
Sequencing Primer
(F):5'- CTTCCCTGGGAGAACAACAGG -3'
(R):5'- TTGAGTGAAGGAAGCCCCATAAC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation