Incidental Mutation 'R4432:Pcid2'
| ID |
328656 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcid2
|
| Ensembl Gene |
ENSMUSG00000038542 |
| Gene Name |
PCI domain containing 2 |
| Synonyms |
A730042J05Rik |
| MMRRC Submission |
041701-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4432 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
13127189-13155459 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13135421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 196
(D196G)
|
| 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: D196G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133204
Gene: ENSMUSG00000038542
AA Change: D196G
| 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
|
| Meta Mutation Damage Score |
0.7139 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (42/42) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,132,414 (GRCm39) |
M294V |
probably benign |
Het |
| Abcc5 |
A |
T |
16: 20,186,937 (GRCm39) |
|
probably null |
Het |
| Acsm4 |
A |
C |
7: 119,310,610 (GRCm39) |
E499A |
probably damaging |
Het |
| Adamtsl4 |
T |
C |
3: 95,589,069 (GRCm39) |
|
probably null |
Het |
| Ank2 |
A |
T |
3: 126,741,455 (GRCm39) |
|
probably benign |
Het |
| Anks6 |
G |
A |
4: 47,044,905 (GRCm39) |
Q334* |
probably null |
Het |
| Cadps2 |
T |
A |
6: 23,626,737 (GRCm39) |
I155L |
probably damaging |
Het |
| Casp4 |
G |
A |
9: 5,323,653 (GRCm39) |
R74H |
probably damaging |
Het |
| Cdk14 |
A |
G |
5: 5,086,427 (GRCm39) |
W298R |
probably damaging |
Het |
| Chia1 |
A |
G |
3: 106,022,641 (GRCm39) |
N12D |
probably benign |
Het |
| Cibar2 |
C |
A |
8: 120,901,594 (GRCm39) |
R37L |
probably damaging |
Het |
| Cyp3a59 |
A |
G |
5: 146,041,596 (GRCm39) |
D380G |
probably benign |
Het |
| Dnm2 |
T |
C |
9: 21,402,600 (GRCm39) |
|
probably benign |
Het |
| Dnm3 |
T |
C |
1: 161,819,566 (GRCm39) |
|
probably benign |
Het |
| Dpp4 |
A |
G |
2: 62,175,456 (GRCm39) |
Y660H |
probably damaging |
Het |
| H6pd |
T |
G |
4: 150,080,215 (GRCm39) |
Y202S |
probably damaging |
Het |
| Hnrnpa0 |
T |
C |
13: 58,275,751 (GRCm39) |
K126R |
probably benign |
Het |
| Insc |
C |
T |
7: 114,368,290 (GRCm39) |
|
probably benign |
Het |
| Lrrc45 |
G |
A |
11: 120,606,047 (GRCm39) |
|
probably null |
Het |
| Mapkap1 |
T |
C |
2: 34,509,875 (GRCm39) |
L263P |
probably damaging |
Het |
| Nmur1 |
A |
G |
1: 86,315,287 (GRCm39) |
S160P |
probably damaging |
Het |
| Or4a81 |
A |
T |
2: 89,619,078 (GRCm39) |
M206K |
possibly damaging |
Het |
| Or4g7 |
T |
A |
2: 111,309,757 (GRCm39) |
C209* |
probably null |
Het |
| Pcdhb15 |
A |
G |
18: 37,608,565 (GRCm39) |
N599S |
probably damaging |
Het |
| Pcolce2 |
T |
C |
9: 95,563,610 (GRCm39) |
F199L |
probably damaging |
Het |
| Phf11c |
A |
T |
14: 59,628,384 (GRCm39) |
N88K |
possibly damaging |
Het |
| Prl8a8 |
T |
A |
13: 27,694,463 (GRCm39) |
Y109F |
probably benign |
Het |
| Rasa2 |
A |
G |
9: 96,424,460 (GRCm39) |
|
probably benign |
Het |
| Samhd1 |
T |
C |
2: 156,946,813 (GRCm39) |
D558G |
probably damaging |
Het |
| Slc1a1 |
T |
C |
19: 28,880,109 (GRCm39) |
F263S |
probably benign |
Het |
| Slc27a3 |
G |
A |
3: 90,294,647 (GRCm39) |
T408M |
probably damaging |
Het |
| Slc4a7 |
T |
A |
14: 14,757,323 (GRCm38) |
N520K |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,241,428 (GRCm39) |
S1679P |
probably damaging |
Het |
| Trmt9b |
A |
T |
8: 36,965,632 (GRCm39) |
I51F |
probably damaging |
Het |
| Vmn1r218 |
T |
C |
13: 23,321,412 (GRCm39) |
F173S |
possibly damaging |
Het |
| Vmn2r32 |
T |
A |
7: 7,482,918 (GRCm39) |
N19Y |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGTCTTATATTCTCTGCGACATC -3'
(R):5'- AGTCCAAGCTTCTCCATTGTATG -3'
Sequencing Primer
(F):5'- TCAATGTCAGTAAGGCAGAACAC -3'
(R):5'- CCATTGTATGTTGTCTGTACCAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation