Incidental Mutation 'R5198:Pacs1'
| ID |
400527 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pacs1
|
| Ensembl Gene |
ENSMUSG00000024855 |
| Gene Name |
phosphofurin acidic cluster sorting protein 1 |
| Synonyms |
|
| MMRRC Submission |
042774-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5198 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
5183714-5323138 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5189325 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 757
(D757G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025786
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025786]
|
| AlphaFold |
Q8K212 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025786
AA Change: D757G
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000025786
Gene: ENSMUSG00000024855
AA Change: D757G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
27 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
51 |
97 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
290 |
N/A |
INTRINSIC |
|
low complexity region
|
306 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
372 |
N/A |
INTRINSIC |
|
Pfam:Pacs-1
|
546 |
958 |
2e-193 |
PFAM |
|
| Meta Mutation Damage Score |
0.0790 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
98% (54/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat protein indicate a role in directing TGN localization of furin by binding to the protease's phosphorylated cytosolic domain. In addition, the human protein plays a role in HIV-1 Nef-mediated downregulation of cell surface MHC-I molecules to the TGN, thereby enabling HIV-1 to escape immune surveillance. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,571,726 (GRCm39) |
V1121A |
probably benign |
Het |
| Adamtsl3 |
A |
C |
7: 82,261,006 (GRCm39) |
K1647Q |
possibly damaging |
Het |
| Adgrb1 |
A |
T |
15: 74,415,550 (GRCm39) |
Q710L |
probably null |
Het |
| Alox12 |
T |
C |
11: 70,145,243 (GRCm39) |
E110G |
probably damaging |
Het |
| Cep152 |
T |
A |
2: 125,429,544 (GRCm39) |
M738L |
probably benign |
Het |
| Cma2 |
T |
C |
14: 56,209,532 (GRCm39) |
V38A |
probably benign |
Het |
| Dlc1 |
C |
T |
8: 37,405,552 (GRCm39) |
G79D |
probably damaging |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Dus3l |
A |
G |
17: 57,076,574 (GRCm39) |
I585V |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,718,198 (GRCm39) |
Y313C |
probably damaging |
Het |
| Fbxw15 |
C |
A |
9: 109,387,242 (GRCm39) |
S251I |
probably benign |
Het |
| Gata4 |
G |
A |
14: 63,437,900 (GRCm39) |
S417L |
probably benign |
Het |
| Gdpd5 |
T |
A |
7: 99,087,515 (GRCm39) |
Y60N |
probably damaging |
Het |
| Gm17669 |
T |
C |
18: 67,695,626 (GRCm39) |
M57T |
probably benign |
Het |
| Gpr39 |
A |
T |
1: 125,605,173 (GRCm39) |
I34F |
probably benign |
Het |
| Iffo2 |
T |
A |
4: 139,302,528 (GRCm39) |
D90E |
probably benign |
Het |
| Il17c |
A |
G |
8: 123,149,108 (GRCm39) |
D84G |
possibly damaging |
Het |
| Itih3 |
T |
C |
14: 30,634,606 (GRCm39) |
T134A |
probably benign |
Het |
| Lama2 |
G |
A |
10: 27,222,999 (GRCm39) |
A429V |
probably damaging |
Het |
| Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
| Mug1 |
G |
A |
6: 121,851,521 (GRCm39) |
R806H |
probably damaging |
Het |
| Naaa |
G |
A |
5: 92,415,904 (GRCm39) |
R65* |
probably null |
Het |
| Nacc2 |
C |
T |
2: 25,950,346 (GRCm39) |
M463I |
probably benign |
Het |
| Nemf |
A |
G |
12: 69,402,821 (GRCm39) |
S72P |
probably damaging |
Het |
| Nudt7 |
G |
A |
8: 114,862,185 (GRCm39) |
|
probably null |
Het |
| Or4b1b |
T |
C |
2: 90,126,737 (GRCm39) |
Q156R |
probably damaging |
Het |
| Or52z15 |
T |
C |
7: 103,331,936 (GRCm39) |
S4P |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pkd2 |
A |
C |
5: 104,630,958 (GRCm39) |
I461L |
probably benign |
Het |
| Potegl |
G |
A |
2: 23,102,473 (GRCm39) |
C121Y |
probably damaging |
Het |
| Pramel5 |
T |
G |
4: 144,000,064 (GRCm39) |
|
probably benign |
Het |
| Ptgdr |
G |
C |
14: 45,096,300 (GRCm39) |
F137L |
probably damaging |
Het |
| Pum1 |
T |
A |
4: 130,507,190 (GRCm39) |
C1085* |
probably null |
Het |
| Rfx3 |
T |
C |
19: 27,808,176 (GRCm39) |
D189G |
probably damaging |
Het |
| Rlf |
T |
A |
4: 121,005,750 (GRCm39) |
K1077* |
probably null |
Het |
| Slc25a30 |
C |
A |
14: 76,007,056 (GRCm39) |
D147Y |
probably benign |
Het |
| Smap2 |
T |
C |
4: 120,873,984 (GRCm39) |
E22G |
possibly damaging |
Het |
| Szt2 |
T |
C |
4: 118,245,519 (GRCm39) |
T1098A |
probably benign |
Het |
| Tbcc |
T |
C |
17: 47,201,788 (GRCm39) |
F58S |
probably damaging |
Het |
| Tekt3 |
G |
A |
11: 62,961,134 (GRCm39) |
R101H |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,838,991 (GRCm39) |
E2184D |
probably damaging |
Het |
| Vkorc1 |
T |
C |
7: 127,493,760 (GRCm39) |
E18G |
probably benign |
Het |
| Vmn1r68 |
T |
C |
7: 10,261,723 (GRCm39) |
H125R |
probably benign |
Het |
| Vmn2r63 |
C |
A |
7: 42,553,169 (GRCm39) |
V696L |
probably benign |
Het |
| Wdr59 |
G |
A |
8: 112,208,620 (GRCm39) |
H421Y |
probably benign |
Het |
| Xkr7 |
T |
C |
2: 152,896,873 (GRCm39) |
Y576H |
probably damaging |
Het |
| Zfp112 |
T |
C |
7: 23,824,281 (GRCm39) |
V83A |
possibly damaging |
Het |
| Zfp616 |
G |
A |
11: 73,974,336 (GRCm39) |
V293I |
probably benign |
Het |
|
| Other mutations in Pacs1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00585:Pacs1
|
APN |
19 |
5,203,726 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01335:Pacs1
|
APN |
19 |
5,192,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01717:Pacs1
|
APN |
19 |
5,218,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02453:Pacs1
|
APN |
19 |
5,185,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02887:Pacs1
|
APN |
19 |
5,185,138 (GRCm39) |
splice site |
probably benign |
|
|
Batavian
|
UTSW |
19 |
5,206,441 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
chicory
|
UTSW |
19 |
5,189,325 (GRCm39) |
missense |
probably benign |
0.33 |
|
endive
|
UTSW |
19 |
5,322,611 (GRCm39) |
nonsense |
probably null |
|
|
Escarole
|
UTSW |
19 |
5,206,384 (GRCm39) |
critical splice donor site |
probably null |
|
|
frisee
|
UTSW |
19 |
5,186,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Pacs1
|
UTSW |
19 |
5,206,402 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0240:Pacs1
|
UTSW |
19 |
5,206,402 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0316:Pacs1
|
UTSW |
19 |
5,185,149 (GRCm39) |
splice site |
silent |
|
|
R0369:Pacs1
|
UTSW |
19 |
5,191,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0443:Pacs1
|
UTSW |
19 |
5,322,611 (GRCm39) |
nonsense |
probably null |
|
|
R0973:Pacs1
|
UTSW |
19 |
5,193,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0973:Pacs1
|
UTSW |
19 |
5,193,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0974:Pacs1
|
UTSW |
19 |
5,193,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1202:Pacs1
|
UTSW |
19 |
5,185,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1672:Pacs1
|
UTSW |
19 |
5,202,337 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1689:Pacs1
|
UTSW |
19 |
5,322,643 (GRCm39) |
unclassified |
probably benign |
|
|
R1842:Pacs1
|
UTSW |
19 |
5,205,912 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1847:Pacs1
|
UTSW |
19 |
5,203,742 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3884:Pacs1
|
UTSW |
19 |
5,205,787 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4577:Pacs1
|
UTSW |
19 |
5,193,861 (GRCm39) |
nonsense |
probably null |
|
|
R4630:Pacs1
|
UTSW |
19 |
5,206,384 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5029:Pacs1
|
UTSW |
19 |
5,192,299 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5223:Pacs1
|
UTSW |
19 |
5,195,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5464:Pacs1
|
UTSW |
19 |
5,197,235 (GRCm39) |
missense |
probably benign |
|
|
R5695:Pacs1
|
UTSW |
19 |
5,186,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6128:Pacs1
|
UTSW |
19 |
5,202,400 (GRCm39) |
splice site |
probably null |
|
|
R6335:Pacs1
|
UTSW |
19 |
5,210,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6802:Pacs1
|
UTSW |
19 |
5,202,812 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6831:Pacs1
|
UTSW |
19 |
5,210,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7071:Pacs1
|
UTSW |
19 |
5,206,402 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7200:Pacs1
|
UTSW |
19 |
5,206,441 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7248:Pacs1
|
UTSW |
19 |
5,189,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7576:Pacs1
|
UTSW |
19 |
5,195,148 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7682:Pacs1
|
UTSW |
19 |
5,202,727 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7715:Pacs1
|
UTSW |
19 |
5,191,709 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7738:Pacs1
|
UTSW |
19 |
5,202,378 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8339:Pacs1
|
UTSW |
19 |
5,192,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8930:Pacs1
|
UTSW |
19 |
5,185,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8932:Pacs1
|
UTSW |
19 |
5,185,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9043:Pacs1
|
UTSW |
19 |
5,188,964 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9211:Pacs1
|
UTSW |
19 |
5,189,057 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9459:Pacs1
|
UTSW |
19 |
5,195,098 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9584:Pacs1
|
UTSW |
19 |
5,322,622 (GRCm39) |
missense |
probably benign |
|
|
R9608:Pacs1
|
UTSW |
19 |
5,193,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9732:Pacs1
|
UTSW |
19 |
5,184,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGTGAATCGTCCCCATC -3'
(R):5'- GGCTGTTTCAGACGTGTAAAG -3'
Sequencing Primer
(F):5'- GGTGAATCGTCCCCATCACCTG -3'
(R):5'- ACTGCTGGCTACATGTTG -3'
|
| Genotyping |
Genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the mutation.
PCR Primers
R51980056_PCR_F: 5’- ACAGGTGAATCGTCCCCATC-3’
R51980056_PCR_R: 5’- GGCTGTTTCAGACGTGTAAAG-3’ Sequencing Primers
R51980056_SEQ_F: 5’- GGTGAATCGTCCCCATCACCTG-3’
R51980056_SEQ_R: 5’- ACTGCTGGCTACATGTTG-3’
PCR program
1) 94°C 2:00
2) 94°C 0:30
3) 55°C 0:30
4) 72°C 1:00
5) repeat steps (2-4) 40X
6) 72°C 10:00
7) 4°C hold The following sequence of 422 nucleotides is amplified: acaggtgaat cgtccccatc acctgtcaaa gggacaaaca cagttggcca gaggcagtca
cccttgacct gctggtggca ggaggtgtgc tttcctttca gtgggcccca gggtctcctc
tgaggaatga cccagacctt cccgctcaac tgcctccgtg agcacatgca gccaattaca
gcacagagtg ctgggaaagc atggtctcac tcagaagcaa aggcactcta gtttacctgc
agtggagggc gagtcttcaa caaggcccac tttcacaacc tgtagagatg gggcttttgt
taggtcctct gtcagggtag caagccccaa tccaactata accaacatgt agccagcagt
acaaccataa ctacatggtg ttttgtcaat gactaaaaaa tctttacacg tctgaaacag
cc Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text (Chr. (+) = T>C).
|
| Posted On |
2016-07-06 |
Incidental Mutation