Incidental Mutation 'IGL01526:Pcid2'
| ID |
89582 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pcid2
|
| Ensembl Gene |
ENSMUSG00000038542 |
| Gene Name |
PCI domain containing 2 |
| Synonyms |
A730042J05Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01526
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
13127189-13155459 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 13135319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127622
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164416]
[ENSMUST00000168164]
[ENSMUST00000172443]
|
| AlphaFold |
Q8BFV2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164416
|
| SMART Domains |
Protein: ENSMUSP00000133204
Gene: ENSMUSG00000038542
| Domain | Start | End | E-Value | Type |
|---|
|
PAM
|
144 |
312 |
4.29e-68 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165097
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165885
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166415
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166881
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167198
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168164
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172443
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the TREX-2 complex (transcription and export complex 2), which regulates mRNA export from the nucleus. This protein regulates expression of Mad2 mitotic arrest deficient-like 1, a cell division checkpoint protein. This protein also interacts with and stabilizes Brca2 (breast cancer 2) protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: Homozygotes for a targeted null mutation implant, but die prior to embryonic day 7.5. Heterozygotes also exhibit excess embryonic loss. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500002C15Rik |
G |
T |
4: 155,818,628 (GRCm39) |
|
probably benign |
Het |
| 4933430I17Rik |
G |
T |
4: 62,450,858 (GRCm39) |
R107L |
possibly damaging |
Het |
| Acvr1 |
A |
T |
2: 58,348,997 (GRCm39) |
D388E |
probably benign |
Het |
| Art3 |
T |
C |
5: 92,562,199 (GRCm39) |
S354P |
probably damaging |
Het |
| Bpnt1 |
C |
A |
1: 185,077,591 (GRCm39) |
S102* |
probably null |
Het |
| Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
| Cfap65 |
A |
T |
1: 74,950,237 (GRCm39) |
S1171T |
probably damaging |
Het |
| Cracd |
T |
A |
5: 77,005,478 (GRCm39) |
M613K |
unknown |
Het |
| Csn2 |
T |
C |
5: 87,842,838 (GRCm39) |
H47R |
possibly damaging |
Het |
| Gm14496 |
T |
A |
2: 181,637,458 (GRCm39) |
D177E |
probably benign |
Het |
| Hmbs |
A |
G |
9: 44,250,845 (GRCm39) |
V126A |
possibly damaging |
Het |
| Ica1l |
A |
G |
1: 60,054,916 (GRCm39) |
M105T |
probably damaging |
Het |
| Morc2a |
G |
A |
11: 3,600,428 (GRCm39) |
E17K |
probably benign |
Het |
| Mroh8 |
T |
C |
2: 157,080,232 (GRCm39) |
|
probably benign |
Het |
| Mroh9 |
G |
T |
1: 162,883,172 (GRCm39) |
L436I |
probably damaging |
Het |
| Nup54 |
T |
C |
5: 92,565,334 (GRCm39) |
D461G |
probably benign |
Het |
| Or10ag2 |
A |
T |
2: 87,249,319 (GRCm39) |
D309V |
probably damaging |
Het |
| Or2t45 |
A |
G |
11: 58,669,123 (GRCm39) |
T57A |
probably benign |
Het |
| Ppp1r3b |
G |
T |
8: 35,851,872 (GRCm39) |
R237L |
probably benign |
Het |
| Prdm11 |
A |
G |
2: 92,843,102 (GRCm39) |
V119A |
probably damaging |
Het |
| S100a7l2 |
T |
A |
3: 90,995,612 (GRCm39) |
|
probably benign |
Het |
| Serpina5 |
T |
A |
12: 104,068,149 (GRCm39) |
V70E |
probably damaging |
Het |
| Skap2 |
C |
T |
6: 51,884,894 (GRCm39) |
D249N |
probably benign |
Het |
| Slc22a29 |
A |
T |
19: 8,184,542 (GRCm39) |
|
probably benign |
Het |
| Slc4a1ap |
C |
A |
5: 31,685,571 (GRCm39) |
T283K |
possibly damaging |
Het |
| Slc6a21 |
T |
G |
7: 44,937,220 (GRCm39) |
I575S |
probably damaging |
Het |
| Smpd1 |
T |
G |
7: 105,203,982 (GRCm39) |
W82G |
probably benign |
Het |
| Snx14 |
T |
A |
9: 88,263,553 (GRCm39) |
M897L |
probably damaging |
Het |
| Tjp1 |
A |
G |
7: 64,972,406 (GRCm39) |
V586A |
probably damaging |
Het |
| Tmc8 |
T |
C |
11: 117,682,910 (GRCm39) |
|
probably benign |
Het |
| Trim34a |
A |
G |
7: 103,909,706 (GRCm39) |
Y298C |
probably damaging |
Het |
| Ube3c |
T |
C |
5: 29,872,960 (GRCm39) |
V1000A |
probably damaging |
Het |
|
| Other mutations in Pcid2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01286:Pcid2
|
APN |
8 |
13,140,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01603:Pcid2
|
APN |
8 |
13,129,936 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL01867:Pcid2
|
APN |
8 |
13,128,243 (GRCm39) |
missense |
probably benign |
0.06 |
|
raton
|
UTSW |
8 |
13,135,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0091:Pcid2
|
UTSW |
8 |
13,135,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0322:Pcid2
|
UTSW |
8 |
13,140,775 (GRCm39) |
intron |
probably benign |
|
|
R0403:Pcid2
|
UTSW |
8 |
13,135,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0426:Pcid2
|
UTSW |
8 |
13,131,262 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1914:Pcid2
|
UTSW |
8 |
13,144,141 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3498:Pcid2
|
UTSW |
8 |
13,150,413 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4432:Pcid2
|
UTSW |
8 |
13,135,421 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4832:Pcid2
|
UTSW |
8 |
13,135,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5106:Pcid2
|
UTSW |
8 |
13,129,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5169:Pcid2
|
UTSW |
8 |
13,129,632 (GRCm39) |
splice site |
probably null |
|
|
R5788:Pcid2
|
UTSW |
8 |
13,150,320 (GRCm39) |
splice site |
probably null |
|
|
R7048:Pcid2
|
UTSW |
8 |
13,128,243 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7219:Pcid2
|
UTSW |
8 |
13,129,907 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8322:Pcid2
|
UTSW |
8 |
13,128,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation