Incidental Mutation 'IGL01867:Pcid2'
| ID |
178581 |
| 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 # |
IGL01867
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
13127189-13155459 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13128243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 386
(V386A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133204
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033822]
[ENSMUST00000164416]
[ENSMUST00000168164]
[ENSMUST00000211363]
[ENSMUST00000211453]
|
| AlphaFold |
Q8BFV2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033822
|
| SMART Domains |
Protein: ENSMUSP00000033822
Gene: ENSMUSG00000031445
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
|
GLA
|
22 |
86 |
7.03e-29 |
SMART |
|
EGF
|
90 |
123 |
1.65e-6 |
SMART |
|
EGF
|
128 |
166 |
1.19e-3 |
SMART |
|
Tryp_SPc
|
182 |
394 |
6.49e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164416
AA Change: V386A
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000133204
Gene: ENSMUSG00000038542
AA Change: V386A
| 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: ENSMUST00000166881
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168164
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211363
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211453
|
| Meta Mutation Damage Score |
0.7650 |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
T |
C |
17: 46,635,364 (GRCm39) |
E213G |
probably benign |
Het |
| Akap6 |
T |
C |
12: 52,934,791 (GRCm39) |
L761P |
probably damaging |
Het |
| Bbs7 |
A |
C |
3: 36,627,696 (GRCm39) |
L697R |
probably benign |
Het |
| Cd74 |
G |
A |
18: 60,941,352 (GRCm39) |
R99H |
probably benign |
Het |
| Cpne6 |
A |
G |
14: 55,751,137 (GRCm39) |
N182S |
probably benign |
Het |
| Cyp4f17 |
A |
G |
17: 32,747,057 (GRCm39) |
H429R |
probably benign |
Het |
| Dact2 |
A |
T |
17: 14,415,932 (GRCm39) |
M756K |
probably damaging |
Het |
| Ets1 |
A |
G |
9: 32,645,455 (GRCm39) |
D234G |
probably damaging |
Het |
| Fat3 |
A |
C |
9: 16,289,197 (GRCm39) |
S109A |
probably benign |
Het |
| Fras1 |
G |
T |
5: 96,735,990 (GRCm39) |
M528I |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gtf3c1 |
A |
G |
7: 125,261,548 (GRCm39) |
F1189L |
probably benign |
Het |
| Ift81 |
A |
T |
5: 122,740,739 (GRCm39) |
|
probably benign |
Het |
| Insyn2b |
A |
G |
11: 34,353,065 (GRCm39) |
E369G |
probably benign |
Het |
| Lag3 |
A |
G |
6: 124,887,869 (GRCm39) |
S22P |
probably benign |
Het |
| Mos |
G |
T |
4: 3,870,845 (GRCm39) |
Q324K |
probably benign |
Het |
| Mtx2 |
T |
A |
2: 74,706,733 (GRCm39) |
V236E |
probably damaging |
Het |
| Naip6 |
T |
C |
13: 100,436,820 (GRCm39) |
T568A |
probably benign |
Het |
| Or5k8 |
A |
G |
16: 58,644,337 (GRCm39) |
F245S |
probably damaging |
Het |
| Or6c35 |
T |
A |
10: 129,169,232 (GRCm39) |
L161M |
probably damaging |
Het |
| Or6c68 |
T |
C |
10: 129,157,585 (GRCm39) |
I31T |
probably benign |
Het |
| Or6c88 |
G |
A |
10: 129,406,696 (GRCm39) |
M57I |
possibly damaging |
Het |
| Or8b53 |
A |
C |
9: 38,667,194 (GRCm39) |
D70A |
probably damaging |
Het |
| Pde8b |
T |
C |
13: 95,237,446 (GRCm39) |
D116G |
probably damaging |
Het |
| Plxnc1 |
A |
G |
10: 94,634,008 (GRCm39) |
V1365A |
possibly damaging |
Het |
| Prex2 |
G |
T |
1: 11,168,727 (GRCm39) |
C241F |
probably benign |
Het |
| Prr23a2 |
A |
G |
9: 98,739,113 (GRCm39) |
E157G |
probably benign |
Het |
| Ptpn4 |
A |
T |
1: 119,603,329 (GRCm39) |
H836Q |
probably benign |
Het |
| Ptprd |
C |
T |
4: 76,161,884 (GRCm39) |
R117H |
probably damaging |
Het |
| Rab11fip4 |
T |
C |
11: 79,574,216 (GRCm39) |
S102P |
probably benign |
Het |
| Slc44a1 |
G |
T |
4: 53,536,405 (GRCm39) |
V194F |
probably damaging |
Het |
| Synm |
T |
A |
7: 67,383,222 (GRCm39) |
H1480L |
probably benign |
Het |
| Tmem63a |
A |
G |
1: 180,783,570 (GRCm39) |
Y175C |
possibly damaging |
Het |
| Trmt61a |
C |
T |
12: 111,645,150 (GRCm39) |
R29C |
probably benign |
Het |
| Ubap1 |
C |
T |
4: 41,379,236 (GRCm39) |
T150I |
probably benign |
Het |
| Uimc1 |
T |
C |
13: 55,223,214 (GRCm39) |
M353V |
probably benign |
Het |
| Usp34 |
T |
C |
11: 23,334,411 (GRCm39) |
M1135T |
possibly damaging |
Het |
| Vmn1r25 |
A |
C |
6: 57,956,196 (GRCm39) |
L31R |
probably damaging |
Het |
| Wtap |
T |
C |
17: 13,188,342 (GRCm39) |
E186G |
probably benign |
Het |
| Wwc2 |
T |
G |
8: 48,336,615 (GRCm39) |
N216H |
probably benign |
Het |
| Zhx1 |
A |
T |
15: 57,917,841 (GRCm39) |
M135K |
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 |
|
IGL01526:Pcid2
|
APN |
8 |
13,135,319 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01603:Pcid2
|
APN |
8 |
13,129,936 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
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 |
2014-05-07 |
Incidental Mutation