Incidental Mutation 'IGL01286:Pcid2'
| ID |
72713 |
| 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 # |
IGL01286
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
13127189-13155459 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13140660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 155
(D155G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133204
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164416]
[ENSMUST00000168164]
[ENSMUST00000172443]
|
| AlphaFold |
Q8BFV2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164416
AA Change: D155G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133204
Gene: ENSMUSG00000038542
AA Change: D155G
| Domain | Start | End | E-Value | Type |
|---|
|
PAM
|
144 |
312 |
4.29e-68 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165097
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
A |
18: 6,629,578 (GRCm39) |
C214S |
possibly damaging |
Het |
| Ankrd26 |
A |
T |
6: 118,536,068 (GRCm39) |
V122E |
probably damaging |
Het |
| Blnk |
T |
C |
19: 40,922,950 (GRCm39) |
K389R |
probably benign |
Het |
| Cdcp3 |
A |
T |
7: 130,848,432 (GRCm39) |
N862I |
probably damaging |
Het |
| Cdh11 |
T |
A |
8: 103,391,261 (GRCm39) |
Q325L |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,750,235 (GRCm39) |
|
probably null |
Het |
| Cmtr2 |
T |
A |
8: 110,949,484 (GRCm39) |
I598N |
possibly damaging |
Het |
| Col1a2 |
A |
C |
6: 4,533,891 (GRCm39) |
E857D |
unknown |
Het |
| Col2a1 |
G |
A |
15: 97,892,759 (GRCm39) |
P237L |
unknown |
Het |
| Commd2 |
G |
A |
3: 57,558,143 (GRCm39) |
T66M |
probably benign |
Het |
| Cyp2c50 |
A |
T |
19: 40,080,728 (GRCm39) |
K241N |
probably benign |
Het |
| Fbxo2 |
A |
G |
4: 148,250,163 (GRCm39) |
N231S |
probably benign |
Het |
| Grm5 |
T |
C |
7: 87,251,773 (GRCm39) |
S8P |
probably benign |
Het |
| Ip6k1 |
A |
G |
9: 107,923,082 (GRCm39) |
T405A |
probably benign |
Het |
| Kel |
G |
T |
6: 41,665,051 (GRCm39) |
|
probably null |
Het |
| Lin54 |
T |
C |
5: 100,633,466 (GRCm39) |
T73A |
probably benign |
Het |
| Nek1 |
T |
A |
8: 61,577,250 (GRCm39) |
V1052D |
possibly damaging |
Het |
| Or4p22 |
T |
A |
2: 88,317,592 (GRCm39) |
I172K |
probably damaging |
Het |
| Or6c6 |
T |
A |
10: 129,186,519 (GRCm39) |
L29H |
probably damaging |
Het |
| Ptchd1 |
T |
C |
X: 154,357,820 (GRCm39) |
T462A |
possibly damaging |
Het |
| Pxdn |
A |
G |
12: 30,032,753 (GRCm39) |
E179G |
probably benign |
Het |
| Rfc2 |
T |
C |
5: 134,618,243 (GRCm39) |
L82P |
probably damaging |
Het |
| Sh3rf2 |
T |
C |
18: 42,272,676 (GRCm39) |
|
probably null |
Het |
| Sis |
A |
T |
3: 72,848,358 (GRCm39) |
W639R |
probably damaging |
Het |
| Tbcd |
T |
C |
11: 121,384,719 (GRCm39) |
|
probably null |
Het |
| Tert |
G |
A |
13: 73,776,416 (GRCm39) |
R389H |
possibly damaging |
Het |
| Tns3 |
C |
T |
11: 8,442,617 (GRCm39) |
S582N |
probably benign |
Het |
| Tssk2 |
C |
T |
16: 17,716,822 (GRCm39) |
T75I |
probably benign |
Het |
| Txnl4a |
C |
T |
18: 80,261,956 (GRCm39) |
T64I |
probably benign |
Het |
| Xpot |
T |
C |
10: 121,438,243 (GRCm39) |
D782G |
probably benign |
Het |
|
| Other mutations in Pcid2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01526:Pcid2
|
APN |
8 |
13,135,319 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2013-10-07 |
Incidental Mutation