Incidental Mutation 'R5673:Pacs2'
| ID |
442734 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pacs2
|
| Ensembl Gene |
ENSMUSG00000021143 |
| Gene Name |
phosphofurin acidic cluster sorting protein 2 |
| Synonyms |
6720425G15Rik, Pacs1l |
| MMRRC Submission |
043175-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5673 (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 113032618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 655
(V655M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152145
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084891]
[ENSMUST00000220541]
[ENSMUST00000223502]
|
| AlphaFold |
Q3V3Q7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084891
AA Change: V685M
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000081953
Gene: ENSMUSG00000021143
AA Change: V685M
| 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: V655M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220715
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221382
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221475
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223502
AA Change: V687M
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
T |
A |
3: 40,877,886 (GRCm39) |
M94K |
probably damaging |
Het |
| Adam2 |
A |
G |
14: 66,306,681 (GRCm39) |
Y103H |
probably benign |
Het |
| Adamts17 |
T |
C |
7: 66,691,555 (GRCm39) |
C580R |
probably damaging |
Het |
| Aqp5 |
G |
A |
15: 99,492,046 (GRCm39) |
V98I |
probably benign |
Het |
| Brd2 |
A |
G |
17: 34,331,581 (GRCm39) |
|
probably benign |
Het |
| Cd177 |
T |
C |
7: 24,449,787 (GRCm39) |
N566S |
probably damaging |
Het |
| Cdh23 |
C |
T |
10: 60,143,636 (GRCm39) |
D2992N |
probably damaging |
Het |
| Cfap69 |
T |
C |
5: 5,646,027 (GRCm39) |
T140A |
possibly damaging |
Het |
| Cfi |
A |
G |
3: 129,648,658 (GRCm39) |
I181V |
probably benign |
Het |
| Cnksr1 |
A |
G |
4: 133,962,499 (GRCm39) |
L133P |
probably damaging |
Het |
| Col1a2 |
C |
T |
6: 4,539,622 (GRCm39) |
L1297F |
unknown |
Het |
| Crot |
T |
C |
5: 9,038,131 (GRCm39) |
N132S |
probably benign |
Het |
| Dnah3 |
T |
A |
7: 119,550,812 (GRCm39) |
Q3169L |
possibly damaging |
Het |
| Dnah8 |
T |
A |
17: 31,022,235 (GRCm39) |
M3945K |
probably damaging |
Het |
| Fam186a |
A |
C |
15: 99,839,628 (GRCm39) |
H2205Q |
possibly damaging |
Het |
| Fam204a |
T |
C |
19: 60,188,415 (GRCm39) |
K216E |
probably damaging |
Het |
| Far2 |
A |
T |
6: 148,047,602 (GRCm39) |
S94C |
possibly damaging |
Het |
| Gm14226 |
T |
A |
2: 154,866,842 (GRCm39) |
S266R |
possibly damaging |
Het |
| Gpr137 |
A |
G |
19: 6,916,466 (GRCm39) |
F276L |
probably damaging |
Het |
| Lhx3 |
T |
C |
2: 26,093,006 (GRCm39) |
Y148C |
probably damaging |
Het |
| Lrfn2 |
T |
C |
17: 49,403,625 (GRCm39) |
S583P |
probably benign |
Het |
| Lrrc40 |
A |
G |
3: 157,754,035 (GRCm39) |
|
probably null |
Het |
| Mast4 |
A |
T |
13: 102,930,580 (GRCm39) |
I224N |
probably damaging |
Het |
| Meis1 |
T |
C |
11: 18,962,812 (GRCm39) |
K161E |
probably damaging |
Het |
| Mptx2 |
G |
A |
1: 173,102,414 (GRCm39) |
L92F |
probably benign |
Het |
| Mrgprb2 |
A |
T |
7: 48,202,121 (GRCm39) |
F201L |
probably benign |
Het |
| Mroh1 |
T |
A |
15: 76,314,381 (GRCm39) |
L686Q |
probably damaging |
Het |
| Mybbp1a |
G |
A |
11: 72,335,751 (GRCm39) |
V421I |
probably benign |
Het |
| Nadk |
G |
A |
4: 155,669,642 (GRCm39) |
V143I |
possibly damaging |
Het |
| Nell1 |
A |
T |
7: 49,878,594 (GRCm39) |
T272S |
probably damaging |
Het |
| Npnt |
A |
T |
3: 132,623,258 (GRCm39) |
C94S |
probably damaging |
Het |
| Olfml2b |
T |
A |
1: 170,509,698 (GRCm39) |
V682E |
probably damaging |
Het |
| Pcdha1 |
A |
C |
18: 37,063,726 (GRCm39) |
N130T |
probably damaging |
Het |
| Resf1 |
C |
T |
6: 149,229,491 (GRCm39) |
Q846* |
probably null |
Het |
| Rnf145 |
G |
A |
11: 44,422,120 (GRCm39) |
V68M |
possibly damaging |
Het |
| Sh3pxd2a |
A |
G |
19: 47,257,105 (GRCm39) |
S566P |
probably damaging |
Het |
| Sirpa |
T |
G |
2: 129,472,022 (GRCm39) |
V483G |
probably damaging |
Het |
| Sox5 |
T |
C |
6: 144,062,206 (GRCm39) |
R149G |
probably damaging |
Het |
| Tbc1d4 |
A |
G |
14: 101,692,444 (GRCm39) |
S1007P |
probably damaging |
Het |
| Tnfrsf8 |
A |
G |
4: 145,011,905 (GRCm39) |
F317L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,547,389 (GRCm39) |
K32219R |
probably damaging |
Het |
| Vmn1r170 |
A |
T |
7: 23,305,630 (GRCm39) |
T11S |
possibly damaging |
Het |
| Vmn2r65 |
G |
T |
7: 84,596,615 (GRCm39) |
L147I |
probably benign |
Het |
| Vmn2r77 |
C |
T |
7: 86,461,214 (GRCm39) |
H847Y |
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 |
|
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 |
|
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'- GCACATGGGATTTGCCACTTC -3'
(R):5'- GCAAGATATCCTTTCTTGTCTGGG -3'
Sequencing Primer
(F):5'- ATGGGATTTGCCACTTCCCAAAG -3'
(R):5'- AGATATCCTTTCTTGTCTGGGTTTGC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation