Incidental Mutation 'IGL01526:Pcid2'
ID89582
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcid2
Ensembl Gene ENSMUSG00000038542
Gene NamePCI domain containing 2
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01526
Quality Score
Status
Chromosome8
Chromosomal Location13077189-13105459 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) G to A at 13085319 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164416] [ENSMUST00000168164] [ENSMUST00000172443]
Predicted Effect probably benign
Transcript: ENSMUST00000164416
SMART Domains Protein: ENSMUSP00000133204
Gene: ENSMUSG00000038542

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500002C15Rik G T 4: 155,734,171 probably benign Het
4933430I17Rik G T 4: 62,532,621 R107L possibly damaging Het
9130204L05Rik T A 3: 91,088,305 probably benign Het
Acvr1 A T 2: 58,458,985 D388E probably benign Het
Art3 T C 5: 92,414,340 S354P probably damaging Het
Bpnt1 C A 1: 185,345,394 S102* probably null Het
C530008M17Rik T A 5: 76,857,631 M613K unknown Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Cfap65 A T 1: 74,911,078 S1171T probably damaging Het
Csn2 T C 5: 87,694,979 H47R possibly damaging Het
Gm14496 T A 2: 181,995,665 D177E probably benign Het
Hmbs A G 9: 44,339,548 V126A possibly damaging Het
Ica1l A G 1: 60,015,757 M105T probably damaging Het
Morc2a G A 11: 3,650,428 E17K probably benign Het
Mroh8 T C 2: 157,238,312 probably benign Het
Mroh9 G T 1: 163,055,603 L436I probably damaging Het
Nup54 T C 5: 92,417,475 D461G probably benign Het
Olfr1123 A T 2: 87,418,975 D309V probably damaging Het
Olfr315 A G 11: 58,778,297 T57A probably benign Het
Ppp1r3b G T 8: 35,384,718 R237L probably benign Het
Prdm11 A G 2: 93,012,757 V119A probably damaging Het
Serpina5 T A 12: 104,101,890 V70E probably damaging Het
Skap2 C T 6: 51,907,914 D249N probably benign Het
Slc22a29 A T 19: 8,207,178 probably benign Het
Slc4a1ap C A 5: 31,528,227 T283K possibly damaging Het
Slc6a21 T G 7: 45,287,796 I575S probably damaging Het
Smpd1 T G 7: 105,554,775 W82G probably benign Het
Snx14 T A 9: 88,381,500 M897L probably damaging Het
Tjp1 A G 7: 65,322,658 V586A probably damaging Het
Tmc8 T C 11: 117,792,084 probably benign Het
Trim34a A G 7: 104,260,499 Y298C probably damaging Het
Ube3c T C 5: 29,667,962 V1000A probably damaging Het
Other mutations in Pcid2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01286:Pcid2 APN 8 13090660 missense probably damaging 1.00
IGL01603:Pcid2 APN 8 13079936 missense possibly damaging 0.49
IGL01867:Pcid2 APN 8 13078243 missense probably benign 0.06
raton UTSW 8 13085425 missense probably damaging 1.00
R0091:Pcid2 UTSW 8 13085392 missense probably benign 0.00
R0322:Pcid2 UTSW 8 13090775 intron probably benign
R0403:Pcid2 UTSW 8 13085367 missense probably damaging 1.00
R0426:Pcid2 UTSW 8 13081262 critical splice donor site probably null
R1914:Pcid2 UTSW 8 13094141 critical splice donor site probably null
R3498:Pcid2 UTSW 8 13100413 missense possibly damaging 0.46
R4432:Pcid2 UTSW 8 13085421 missense probably damaging 0.99
R4832:Pcid2 UTSW 8 13085425 missense probably damaging 1.00
R5106:Pcid2 UTSW 8 13079648 missense probably damaging 1.00
R5169:Pcid2 UTSW 8 13079632 splice site probably null
R5788:Pcid2 UTSW 8 13100320 splice site probably null
R7048:Pcid2 UTSW 8 13078243 missense probably benign 0.06
R7219:Pcid2 UTSW 8 13079907 missense probably benign 0.01
R8322:Pcid2 UTSW 8 13078555 missense probably damaging 1.00
Posted On2013-12-03