Incidental Mutation 'R7926:Pacs2'
ID |
643341 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pacs2
|
Ensembl Gene |
ENSMUSG00000021143 |
Gene Name |
phosphofurin acidic cluster sorting protein 2 |
Synonyms |
6720425G15Rik, Pacs1l |
MMRRC Submission |
045973-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7926 (G1)
|
Quality Score |
999 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
112978128-113038021 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 113024372 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 418
(L418F)
|
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: L418F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000081953 Gene: ENSMUSG00000021143 AA Change: L418F
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 damaging
Transcript: ENSMUST00000220541
AA Change: L388F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223502
AA Change: L418F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
BC016579 |
C |
A |
16: 45,449,825 (GRCm39) |
D198Y |
probably damaging |
Het |
Cep170 |
A |
G |
1: 176,588,979 (GRCm39) |
S549P |
probably damaging |
Het |
Cnih3 |
T |
C |
1: 181,277,566 (GRCm39) |
L96P |
probably damaging |
Het |
Cnn2 |
T |
A |
10: 79,829,160 (GRCm39) |
L168Q |
probably damaging |
Het |
Cnot1 |
ACG |
A |
8: 96,472,275 (GRCm39) |
|
probably null |
Het |
Cnot10 |
A |
G |
9: 114,446,883 (GRCm39) |
C398R |
probably damaging |
Het |
Dcaf4 |
C |
A |
12: 83,580,703 (GRCm39) |
Y212* |
probably null |
Het |
Dmxl2 |
T |
C |
9: 54,335,326 (GRCm39) |
T665A |
probably benign |
Het |
Dnmt1 |
C |
A |
9: 20,818,855 (GRCm39) |
A1609S |
unknown |
Het |
Dzip1 |
T |
C |
14: 119,120,911 (GRCm39) |
D682G |
probably benign |
Het |
Fam76a |
A |
G |
4: 132,629,405 (GRCm39) |
L249P |
probably damaging |
Het |
Fgf10 |
T |
C |
13: 118,925,752 (GRCm39) |
M177T |
probably damaging |
Het |
G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
Hoxa13 |
CG |
CGAG |
6: 52,237,619 (GRCm39) |
|
probably null |
Het |
Itln1 |
G |
A |
1: 171,359,261 (GRCm39) |
T73I |
probably benign |
Het |
Jkamp |
T |
C |
12: 72,141,590 (GRCm39) |
Y197H |
probably damaging |
Het |
Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
Lcor |
T |
C |
19: 41,571,008 (GRCm39) |
F67S |
probably benign |
Het |
Lmf2 |
G |
A |
15: 89,236,624 (GRCm39) |
P514L |
probably damaging |
Het |
Lmntd2 |
G |
T |
7: 140,790,258 (GRCm39) |
P610Q |
probably damaging |
Het |
Map3k3 |
T |
C |
11: 106,036,548 (GRCm39) |
S225P |
probably damaging |
Het |
Mbd5 |
T |
C |
2: 49,146,335 (GRCm39) |
Y182H |
probably damaging |
Het |
Mki67 |
A |
G |
7: 135,298,869 (GRCm39) |
V2055A |
possibly damaging |
Het |
Mtmr7 |
G |
A |
8: 41,059,927 (GRCm39) |
A62V |
possibly damaging |
Het |
Myh8 |
C |
T |
11: 67,169,732 (GRCm39) |
P17L |
possibly damaging |
Het |
Myt1l |
T |
A |
12: 29,861,651 (GRCm39) |
D144E |
unknown |
Het |
Nfatc1 |
T |
C |
18: 80,740,881 (GRCm39) |
Y373C |
probably damaging |
Het |
Paxip1 |
A |
G |
5: 27,996,207 (GRCm39) |
I24T |
unknown |
Het |
Pdcl |
C |
T |
2: 37,242,249 (GRCm39) |
G167E |
probably damaging |
Het |
Pdcl |
A |
C |
2: 37,242,251 (GRCm39) |
S166R |
probably damaging |
Het |
Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
Qsox1 |
C |
T |
1: 155,688,533 (GRCm39) |
G5S |
unknown |
Het |
Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
Sass6 |
T |
A |
3: 116,422,419 (GRCm39) |
S641T |
possibly damaging |
Het |
Six1 |
T |
C |
12: 73,090,583 (GRCm39) |
N194S |
probably benign |
Het |
Tagap |
T |
C |
17: 8,145,770 (GRCm39) |
|
probably null |
Het |
Tiparp |
T |
C |
3: 65,460,946 (GRCm39) |
V645A |
possibly damaging |
Het |
Tm2d2 |
T |
C |
8: 25,510,480 (GRCm39) |
V113A |
probably damaging |
Het |
Tmprss6 |
C |
A |
15: 78,337,050 (GRCm39) |
R352L |
probably benign |
Het |
Tslp |
A |
G |
18: 32,950,246 (GRCm39) |
E105G |
possibly damaging |
Het |
Ttc41 |
A |
G |
10: 86,611,911 (GRCm39) |
E1093G |
probably benign |
Het |
Ush2a |
G |
A |
1: 188,460,797 (GRCm39) |
R2686H |
probably benign |
Het |
Usp54 |
A |
T |
14: 20,627,036 (GRCm39) |
Y541N |
probably damaging |
Het |
Vmn2r125 |
A |
G |
4: 156,702,988 (GRCm39) |
D122G |
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 |
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 |
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'- GAGCCTTTCCCCAAATCAGG -3'
(R):5'- GGTGACACTGAAATCTCCCC -3'
Sequencing Primer
(F):5'- GAGAGGCACGGTAAATGTTTCTG -3'
(R):5'- TGAAATCTCCCCAGCAACCTGAG -3'
|
Posted On |
2020-08-07 |