Incidental Mutation 'R2231:Pacs2'
ID |
240050 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pacs2
|
Ensembl Gene |
ENSMUSG00000021143 |
Gene Name |
phosphofurin acidic cluster sorting protein 2 |
Synonyms |
6720425G15Rik, Pacs1l |
MMRRC Submission |
040232-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2231 (G1)
|
Quality Score |
225 |
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: 99.2%
- 3x: 98.5%
- 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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr1b |
G |
A |
1: 36,739,440 (GRCm39) |
R336W |
probably damaging |
Het |
Alkbh6 |
G |
A |
7: 30,012,015 (GRCm39) |
|
probably null |
Het |
Ankrd63 |
A |
G |
2: 118,533,846 (GRCm39) |
|
probably benign |
Het |
Arsa |
T |
C |
15: 89,359,925 (GRCm39) |
M1V |
probably null |
Het |
Cblb |
T |
A |
16: 52,014,635 (GRCm39) |
S895T |
probably benign |
Het |
Cdk8 |
A |
T |
5: 146,168,414 (GRCm39) |
|
probably benign |
Het |
Coch |
G |
A |
12: 51,649,648 (GRCm39) |
V320I |
probably benign |
Het |
Cyp2c68 |
T |
A |
19: 39,687,804 (GRCm39) |
S398C |
probably benign |
Het |
Cyp2e1 |
T |
C |
7: 140,344,827 (GRCm39) |
S98P |
probably damaging |
Het |
Dnah5 |
G |
A |
15: 28,408,563 (GRCm39) |
|
probably null |
Het |
Eif2b5 |
T |
C |
16: 20,323,520 (GRCm39) |
Y424H |
probably benign |
Het |
Enoph1 |
C |
T |
5: 100,188,136 (GRCm39) |
T20I |
probably damaging |
Het |
Entpd7 |
T |
C |
19: 43,710,255 (GRCm39) |
V304A |
probably benign |
Het |
Fam227a |
T |
A |
15: 79,499,582 (GRCm39) |
Y591F |
possibly damaging |
Het |
Gal3st1 |
T |
C |
11: 3,948,282 (GRCm39) |
I163T |
probably benign |
Het |
Kif21a |
G |
A |
15: 90,869,565 (GRCm39) |
Q429* |
probably null |
Het |
L1cam |
T |
A |
X: 72,904,947 (GRCm39) |
N503I |
possibly damaging |
Het |
Myl3 |
T |
C |
9: 110,596,979 (GRCm39) |
L113P |
probably damaging |
Het |
Nup153 |
A |
G |
13: 46,863,103 (GRCm39) |
|
probably null |
Het |
Oaz3 |
T |
C |
3: 94,341,846 (GRCm39) |
T130A |
probably benign |
Het |
Or4c3d |
A |
T |
2: 89,882,569 (GRCm39) |
F33Y |
probably benign |
Het |
Or5b12b |
A |
G |
19: 12,861,313 (GRCm39) |
I23V |
probably benign |
Het |
Pdk3 |
G |
T |
X: 92,857,604 (GRCm39) |
N59K |
probably damaging |
Het |
Piezo2 |
A |
T |
18: 63,278,143 (GRCm39) |
C254S |
probably damaging |
Het |
Plekhd1 |
T |
C |
12: 80,768,725 (GRCm39) |
F403L |
possibly damaging |
Het |
Pou5f1 |
A |
G |
17: 35,820,959 (GRCm39) |
T134A |
probably benign |
Het |
Ppp3r1 |
G |
A |
11: 17,143,115 (GRCm39) |
G68R |
probably damaging |
Het |
Prr5 |
T |
C |
15: 84,586,981 (GRCm39) |
S244P |
probably benign |
Het |
Sacs |
A |
G |
14: 61,443,378 (GRCm39) |
|
probably null |
Het |
Sbno1 |
A |
T |
5: 124,543,767 (GRCm39) |
D257E |
probably damaging |
Het |
Scn10a |
T |
C |
9: 119,462,916 (GRCm39) |
E1040G |
possibly damaging |
Het |
Sgce |
T |
C |
6: 4,730,066 (GRCm39) |
K53E |
probably benign |
Het |
Slc6a11 |
A |
G |
6: 114,171,590 (GRCm39) |
T254A |
probably damaging |
Het |
Spag1 |
A |
G |
15: 36,191,313 (GRCm39) |
Y180C |
probably benign |
Het |
Ssna1 |
G |
T |
2: 25,162,019 (GRCm39) |
N58K |
possibly damaging |
Het |
Tbx3 |
C |
A |
5: 119,815,589 (GRCm39) |
N296K |
probably damaging |
Het |
Tcerg1 |
A |
G |
18: 42,657,309 (GRCm39) |
T264A |
unknown |
Het |
Trdmt1 |
A |
T |
2: 13,530,436 (GRCm39) |
F82I |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,774,497 (GRCm39) |
F2136L |
probably damaging |
Het |
Usb1 |
T |
G |
8: 96,070,674 (GRCm39) |
L200R |
probably damaging |
Het |
Usp33 |
C |
T |
3: 152,079,023 (GRCm39) |
A425V |
probably benign |
Het |
Zfp92 |
G |
T |
X: 72,466,358 (GRCm39) |
L450F |
possibly damaging |
Het |
Zw10 |
C |
T |
9: 48,975,421 (GRCm39) |
T282M |
possibly 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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCCCTGGGAGAACAACAGG -3'
(R):5'- CCCACACCGTTTTACCAGTAG -3'
Sequencing Primer
(F):5'- ACAGGCAGTGGGGACTTTGC -3'
(R):5'- TTGAGTGAAGGAAGCCCCATAAC -3'
|
Posted On |
2014-10-15 |