Incidental Mutation 'IGL01603:Pcid2'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcid2
Ensembl Gene ENSMUSG00000038542
Gene NamePCI domain containing 2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01603
Quality Score
Chromosomal Location13077189-13105459 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 13079936 bp
Amino Acid Change Lysine to Asparagine at position 273 (K273N)
Ref Sequence ENSEMBL: ENSMUSP00000133204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033822] [ENSMUST00000164416] [ENSMUST00000168164]
Predicted Effect probably benign
Transcript: ENSMUST00000033822
SMART Domains Protein: ENSMUSP00000033822
Gene: ENSMUSG00000031445

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 possibly damaging
Transcript: ENSMUST00000164416
AA Change: K273N

PolyPhen 2 Score 0.492 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000133204
Gene: ENSMUSG00000038542
AA Change: K273N

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
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8l T A 17: 32,345,353 D20V probably damaging Het
Akr1c12 A G 13: 4,272,927 probably null Het
Baiap2l1 C T 5: 144,280,815 probably benign Het
Baz2a T C 10: 128,111,168 F184L probably damaging Het
BC049730 T A 7: 24,712,529 W45R probably damaging Het
Cadps T C 14: 12,454,154 probably benign Het
Cbr4 A T 8: 61,503,211 *237Y probably null Het
Cln3 T G 7: 126,575,354 N275T probably benign Het
Csf1r A G 18: 61,129,301 E823G probably damaging Het
Ctr9 C A 7: 111,049,331 A726D probably damaging Het
Def6 C T 17: 28,219,740 probably benign Het
Dock4 T A 12: 40,693,031 I395N probably damaging Het
Eln T C 5: 134,719,040 probably benign Het
Fasn A T 11: 120,816,065 H920Q probably damaging Het
Glb1l3 A G 9: 26,859,536 I78T probably damaging Het
Gm7275 A T 16: 48,073,579 noncoding transcript Het
Grm5 A C 7: 87,603,178 Y212S probably damaging Het
Gtf2ird2 T C 5: 134,202,288 probably benign Het
Gucy1b1 A G 3: 82,034,868 V528A probably damaging Het
Hspg2 G A 4: 137,552,803 A3168T probably damaging Het
Kcnj6 A G 16: 94,833,199 S18P probably benign Het
Kcnq5 T A 1: 21,505,340 K294I possibly damaging Het
Lama4 G A 10: 39,065,646 G693E possibly damaging Het
Ldb1 A T 19: 46,035,575 I124K probably damaging Het
Lrrfip1 C T 1: 91,115,913 T680I probably benign Het
Map3k19 T A 1: 127,830,273 D186V possibly damaging Het
Mrgprx2 T C 7: 48,482,626 Y148C probably damaging Het
Muc4 G A 16: 32,750,655 A178T probably benign Het
Mylip A C 13: 45,390,003 E16A probably benign Het
Nek9 A G 12: 85,305,605 F828S probably damaging Het
Obscn A G 11: 59,037,805 F6012L probably damaging Het
Olfr1394 A C 11: 49,160,611 D199A probably damaging Het
Olfr298 A G 7: 86,488,931 S207P possibly damaging Het
Olfr474 A G 7: 107,955,373 Y244C possibly damaging Het
Plekhm3 C T 1: 64,921,832 D422N probably damaging Het
Prr12 T C 7: 45,043,485 H1541R probably damaging Het
Psg26 A C 7: 18,475,103 V460G probably damaging Het
Rbmxl1 G A 8: 78,505,830 R295* probably null Het
Sbf1 A T 15: 89,303,278 V690E probably damaging Het
Serpinb2 T A 1: 107,522,180 S108T probably benign Het
Sin3b T C 8: 72,750,064 Y709H probably damaging Het
Slc17a5 A G 9: 78,574,707 W160R probably damaging Het
Spef2 T A 15: 9,704,380 D449V probably damaging Het
Tas2r108 C A 6: 40,493,786 N65K possibly damaging Het
Tex15 T A 8: 33,573,547 F1002I possibly damaging Het
Trpm5 G A 7: 143,075,601 S942L probably benign Het
Tspan5 T C 3: 138,890,756 S52P probably damaging Het
Uqcrfs1 T C 13: 30,541,198 T120A probably benign Het
Usp6nl T C 2: 6,423,435 F193L probably damaging Het
Vmn2r26 T A 6: 124,053,874 C523S probably damaging Het
Wfdc2 C T 2: 164,564,059 P92S probably benign Het
Zbtb18 A T 1: 177,447,983 H303L probably benign Het
Zfp174 A T 16: 3,854,289 H234L probably benign Het
Zmynd12 T C 4: 119,441,920 probably null Het
Other mutations in Pcid2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01286:Pcid2 APN 8 13090660 missense probably damaging 1.00
IGL01526:Pcid2 APN 8 13085319 unclassified probably benign
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 On2013-12-09