Incidental Mutation 'R0727:Ergic2'
ID 200637
Institutional Source Beutler Lab
Gene Symbol Ergic2
Ensembl Gene ENSMUSG00000030304
Gene Name ERGIC and golgi 2
Synonyms 1200009B18Rik, 4930572C01Rik
MMRRC Submission 038909-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.458) question?
Stock # R0727 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 148080816-148113886 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 148100898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000032446] [ENSMUST00000126698] [ENSMUST00000130242] [ENSMUST00000136008]
AlphaFold Q9CR89
Predicted Effect probably benign
Transcript: ENSMUST00000032446
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125469
Predicted Effect probably benign
Transcript: ENSMUST00000126698
SMART Domains Protein: ENSMUSP00000116551
Gene: ENSMUSG00000030304

DomainStartEndE-ValueType
Pfam:ERGIC_N 12 100 1.4e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126773
Predicted Effect probably benign
Transcript: ENSMUST00000130242
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132413
Predicted Effect probably benign
Transcript: ENSMUST00000136008
SMART Domains Protein: ENSMUSP00000120456
Gene: ENSMUSG00000030304

DomainStartEndE-ValueType
Pfam:ERGIC_N 13 101 1.6e-26 PFAM
Pfam:COPIIcoated_ERV 157 333 4.8e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203993
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150980
Predicted Effect probably benign
Transcript: ENSMUST00000203268
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140311
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134574
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145162
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.1%
Validation Efficiency 99% (70/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ERGIC2, or PTX1, is a ubiquitously expressed nuclear protein that is downregulated in prostate carcinoma (Kwok et al., 2001 [PubMed 11445006]).[supplied by OMIM, Aug 2008]
PHENOTYPE: Mice homozygous for an ENU-induced point mutation affecting the donor splice site of intron 5 exhibit swelling of the hind feet and tail. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3b T C 5: 26,016,937 (GRCm39) V83A possibly damaging Het
Adam2 A G 14: 66,267,180 (GRCm39) I693T probably damaging Het
Adamts1 T C 16: 85,595,536 (GRCm39) D214G possibly damaging Het
Atp6v1h T A 1: 5,154,781 (GRCm39) Y36* probably null Het
Cacna1d A G 14: 29,852,072 (GRCm39) probably null Het
Catsperb G T 12: 101,560,614 (GRCm39) probably null Het
Ccdc88b T C 19: 6,831,582 (GRCm39) M482V probably benign Het
Cemip T C 7: 83,610,786 (GRCm39) K723E probably benign Het
Cep112 G A 11: 108,397,380 (GRCm39) R375H probably damaging Het
Cpne7 T C 8: 123,853,025 (GRCm39) S211P probably damaging Het
Csde1 A G 3: 102,950,954 (GRCm39) T191A probably benign Het
Dapk3 A G 10: 81,026,096 (GRCm39) Y129C probably damaging Het
Dlc1 A G 8: 37,039,828 (GRCm39) V1027A probably damaging Het
Evpl T C 11: 116,123,311 (GRCm39) H307R probably damaging Het
Faah A G 4: 115,862,257 (GRCm39) I242T probably damaging Het
Farsa T A 8: 85,587,933 (GRCm39) probably null Het
Fat3 A C 9: 15,907,995 (GRCm39) L2669R probably damaging Het
Fgfr4 C A 13: 55,304,041 (GRCm39) probably null Het
Gnl3 A G 14: 30,739,034 (GRCm39) S55P probably damaging Het
Grhl3 T A 4: 135,273,565 (GRCm39) K562N possibly damaging Het
H2bl1 A G 13: 99,120,735 (GRCm39) V97A probably benign Het
Hoxa9 A G 6: 52,201,294 (GRCm39) V249A probably damaging Het
Hyal1 T C 9: 107,455,601 (GRCm39) S304P possibly damaging Het
Igf1r T C 7: 67,861,906 (GRCm39) probably null Het
Kif3c A G 12: 3,416,776 (GRCm39) T266A probably benign Het
Lrp1b T C 2: 40,640,956 (GRCm39) D3496G probably benign Het
Man2b1 T G 8: 85,818,155 (GRCm39) V442G probably damaging Het
Mast1 T C 8: 85,648,044 (GRCm39) Y479C probably damaging Het
Mei1 A G 15: 81,954,350 (GRCm39) T52A probably benign Het
Micall1 A G 15: 79,004,978 (GRCm39) D150G probably benign Het
Muc4 A G 16: 32,590,221 (GRCm39) M2927V probably benign Het
Obi1 G C 14: 104,717,624 (GRCm39) L250V probably damaging Het
Or11h6 G T 14: 50,880,460 (GRCm39) V241L probably damaging Het
Or56b1b C T 7: 108,164,315 (GRCm39) R229H probably benign Het
Or5an10 T C 19: 12,276,458 (GRCm39) I13V probably benign Het
Or5w22 T A 2: 87,363,245 (GRCm39) Y289* probably null Het
Or8k27 T C 2: 86,276,282 (GRCm39) M15V probably benign Het
Or8k35 A T 2: 86,424,724 (GRCm39) Y149* probably null Het
Pabpc2 A C 18: 39,908,187 (GRCm39) Q484P probably benign Het
Pbld2 T A 10: 62,903,298 (GRCm39) V125D probably benign Het
Pkhd1l1 A G 15: 44,399,184 (GRCm39) T2083A possibly damaging Het
Pum2 A G 12: 8,794,465 (GRCm39) E785G probably damaging Het
Qser1 A G 2: 104,607,656 (GRCm39) probably benign Het
R3hcc1l A G 19: 42,564,514 (GRCm39) D29G probably damaging Het
Rabep1 T A 11: 70,791,318 (GRCm39) Y180* probably null Het
Rassf5 T C 1: 131,109,002 (GRCm39) S140G probably damaging Het
Rbpms2 ACTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 9: 65,558,948 (GRCm39) probably benign Het
Resf1 A G 6: 149,227,320 (GRCm39) N122S possibly damaging Het
Rfpl4 T A 7: 5,118,292 (GRCm39) I93L probably benign Het
Ryr2 C T 13: 11,581,771 (GRCm39) G4798D probably damaging Het
Scaf11 G A 15: 96,317,324 (GRCm39) P747S probably damaging Het
Sgo2b T G 8: 64,380,816 (GRCm39) K672T probably damaging Het
Smg1 T C 7: 117,765,645 (GRCm39) probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Ssh3 G T 19: 4,314,019 (GRCm39) H439Q probably damaging Het
Steap3 T A 1: 120,155,547 (GRCm39) T471S possibly damaging Het
Stk33 T A 7: 108,920,725 (GRCm39) I208L probably damaging Het
Sucnr1 A G 3: 59,994,081 (GRCm39) Y203C probably benign Het
Tlr11 T C 14: 50,598,926 (GRCm39) I304T possibly damaging Het
Top2a A T 11: 98,902,974 (GRCm39) C404* probably null Het
Trim43a G A 9: 88,464,199 (GRCm39) E37K probably benign Het
Zcwpw1 T C 5: 137,809,069 (GRCm39) probably benign Het
Zfhx4 A T 3: 5,466,133 (GRCm39) H2097L probably damaging Het
Zfp874b T C 13: 67,622,831 (GRCm39) K156E probably damaging Het
Zfyve16 T C 13: 92,630,386 (GRCm39) K1413E possibly damaging Het
Other mutations in Ergic2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01083:Ergic2 APN 6 148,096,769 (GRCm39) missense probably benign
IGL02191:Ergic2 APN 6 148,106,319 (GRCm39) missense probably null 0.12
IGL02719:Ergic2 APN 6 148,106,317 (GRCm39) missense possibly damaging 0.82
IGL02958:Ergic2 APN 6 148,083,441 (GRCm39) makesense probably null
R0389:Ergic2 UTSW 6 148,084,700 (GRCm39) missense probably benign 0.40
R0416:Ergic2 UTSW 6 148,084,642 (GRCm39) missense probably damaging 1.00
R1835:Ergic2 UTSW 6 148,091,079 (GRCm39) missense possibly damaging 0.61
R1891:Ergic2 UTSW 6 148,084,577 (GRCm39) missense probably damaging 0.99
R1959:Ergic2 UTSW 6 148,100,852 (GRCm39) critical splice donor site probably null
R2504:Ergic2 UTSW 6 148,106,272 (GRCm39) critical splice donor site probably null
R3414:Ergic2 UTSW 6 148,108,179 (GRCm39) splice site probably benign
R3732:Ergic2 UTSW 6 148,104,020 (GRCm39) missense probably damaging 1.00
R3732:Ergic2 UTSW 6 148,104,020 (GRCm39) missense probably damaging 1.00
R3733:Ergic2 UTSW 6 148,104,020 (GRCm39) missense probably damaging 1.00
R3734:Ergic2 UTSW 6 148,104,020 (GRCm39) missense probably damaging 1.00
R5002:Ergic2 UTSW 6 148,085,656 (GRCm39) missense probably benign 0.00
R5083:Ergic2 UTSW 6 148,097,512 (GRCm39) missense probably benign 0.00
R5088:Ergic2 UTSW 6 148,084,621 (GRCm39) missense probably damaging 1.00
R5850:Ergic2 UTSW 6 148,084,605 (GRCm39) missense possibly damaging 0.93
R6541:Ergic2 UTSW 6 148,084,648 (GRCm39) missense probably damaging 1.00
R6652:Ergic2 UTSW 6 148,091,079 (GRCm39) missense probably damaging 1.00
R7073:Ergic2 UTSW 6 148,096,707 (GRCm39) missense probably damaging 1.00
R7167:Ergic2 UTSW 6 148,108,133 (GRCm39) missense probably damaging 1.00
R7275:Ergic2 UTSW 6 148,096,757 (GRCm39) missense probably damaging 1.00
R7299:Ergic2 UTSW 6 148,089,610 (GRCm39) missense probably damaging 1.00
R8732:Ergic2 UTSW 6 148,102,975 (GRCm39) missense probably damaging 1.00
R8864:Ergic2 UTSW 6 148,083,393 (GRCm39) missense probably benign 0.00
R8948:Ergic2 UTSW 6 148,104,005 (GRCm39) missense probably damaging 0.99
R9437:Ergic2 UTSW 6 148,097,562 (GRCm39) missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- TCACTGGCTCCCAGGAGGAAAG -3'
(R):5'- TCTGGCATCTGTCCACAGTTTCAAAA -3'

Sequencing Primer
(F):5'- catgtcctagaacttacaatttagcc -3'
(R):5'- CTGTCCACAGTTTCAAAAATGTTGG -3'
Posted On 2014-05-23