Incidental Mutation 'R0389:Ergic2'
ID31478
Institutional Source Beutler Lab
Gene Symbol Ergic2
Ensembl Gene ENSMUSG00000030304
Gene NameERGIC and golgi 2
Synonyms
MMRRC Submission 038595-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.385) question?
Stock #R0389 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location148179079-148212374 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 148183202 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 34 (I34F)
Ref Sequence ENSEMBL: ENSMUSP00000145143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032446] [ENSMUST00000111607] [ENSMUST00000136008] [ENSMUST00000143282] [ENSMUST00000204832]
Predicted Effect probably benign
Transcript: ENSMUST00000032446
Predicted Effect probably benign
Transcript: ENSMUST00000111607
SMART Domains Protein: ENSMUSP00000107234
Gene: ENSMUSG00000030303

DomainStartEndE-ValueType
Pfam:Polysacc_synt_2 13 159 2.9e-8 PFAM
Pfam:Epimerase 13 241 3.2e-10 PFAM
Pfam:3Beta_HSD 14 167 4.2e-7 PFAM
Pfam:NAD_binding_4 15 285 3.2e-73 PFAM
Pfam:Sterile 355 448 1.2e-29 PFAM
transmembrane domain 466 483 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126773
Predicted Effect probably benign
Transcript: ENSMUST00000136008
AA Change: I278F

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000120456
Gene: ENSMUSG00000030304
AA Change: I278F

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: ENSMUST00000140311
Predicted Effect probably benign
Transcript: ENSMUST00000143282
AA Change: I34F

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000145143
Gene: ENSMUSG00000030304
AA Change: I34F

DomainStartEndE-ValueType
Pfam:COPIIcoated_ERV 1 89 2.7e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149631
Predicted Effect unknown
Transcript: ENSMUST00000203268
AA Change: I98F
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203993
Predicted Effect probably benign
Transcript: ENSMUST00000204832
AA Change: I3F

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 91.5%
Validation Efficiency
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik G A 3: 121,671,404 E30K unknown Het
Abi3bp A T 16: 56,671,307 T1319S possibly damaging Het
Adam18 T C 8: 24,629,637 probably null Het
Adgre1 G A 17: 57,406,839 D175N possibly damaging Het
Adgrf1 T C 17: 43,303,788 probably null Het
Ankhd1 A G 18: 36,644,599 S1612G possibly damaging Het
Anks1 A G 17: 27,995,952 R458G possibly damaging Het
C130026I21Rik T A 1: 85,270,052 N5Y probably benign Het
Cacna1g C T 11: 94,459,697 V441M probably damaging Het
Cadps2 A T 6: 23,321,782 V1037E possibly damaging Het
Casz1 T C 4: 148,948,911 V1380A possibly damaging Het
Cenpq T C 17: 40,933,194 probably benign Het
Chrac1 T C 15: 73,093,527 I93T possibly damaging Het
Cntnap2 T A 6: 46,009,637 S359T probably benign Het
Col6a6 C A 9: 105,784,204 M235I probably benign Het
Crat T C 2: 30,403,628 probably benign Het
Cyp1a2 T C 9: 57,682,025 N169D probably benign Het
Dennd1c T A 17: 57,067,649 T499S probably benign Het
Dst A G 1: 34,294,550 probably null Het
Dync2h1 G T 9: 7,167,244 probably null Het
Eif3h C A 15: 51,799,264 V129F probably damaging Het
Eno2 A G 6: 124,762,691 F380L probably damaging Het
Ergic3 G A 2: 156,016,787 V278M probably benign Het
Fam185a C T 5: 21,459,285 T339M probably damaging Het
Fam20b A T 1: 156,681,453 D396E probably benign Het
Fam71f2 T A 6: 29,281,392 V43E possibly damaging Het
Fasn G T 11: 120,816,182 D881E probably damaging Het
Fat1 C A 8: 44,950,348 H45Q probably benign Het
Fbxw16 A T 9: 109,432,482 C439S probably benign Het
Gba2 A T 4: 43,570,832 F280Y probably damaging Het
Gfm1 A G 3: 67,457,918 I517V probably benign Het
Gng13 C T 17: 25,718,722 Q8* probably null Het
Golga1 A T 2: 39,018,441 S749T probably damaging Het
Gphn A T 12: 78,590,659 I381F probably damaging Het
Grm3 T C 5: 9,504,794 N833D probably damaging Het
Gstt2 G T 10: 75,832,432 T163K probably damaging Het
Gusb A T 5: 129,998,086 V388E probably damaging Het
Hcrtr2 A T 9: 76,246,380 Y243* probably null Het
Hspg2 A G 4: 137,515,423 T650A possibly damaging Het
Ints2 C T 11: 86,248,851 V306I probably damaging Het
Itga1 T A 13: 114,992,460 D554V probably benign Het
Itgam C T 7: 128,081,634 A245V probably damaging Het
Kcnk15 A G 2: 163,858,323 T161A probably benign Het
Klhl18 A T 9: 110,428,681 C564S probably benign Het
Krt40 T A 11: 99,541,714 R159* probably null Het
L3mbtl4 G A 17: 68,455,780 V103M probably damaging Het
Lnx2 C A 5: 147,019,040 V649L possibly damaging Het
Lpp A T 16: 24,608,241 Q39H probably damaging Het
Lrpprc A T 17: 84,753,112 probably null Het
Map3k19 A T 1: 127,822,415 N1066K probably benign Het
Mbtps2 G T X: 157,568,368 T134K probably benign Het
Mfng C T 15: 78,764,437 V147M possibly damaging Het
Mks1 T C 11: 87,857,928 S273P probably benign Het
Myh2 T C 11: 67,180,821 L488P probably damaging Het
Myo15 A G 11: 60,478,538 N708S probably benign Het
Myo6 A T 9: 80,292,466 N1019I probably damaging Het
Myrf G C 19: 10,218,162 T428S probably benign Het
Ncoa1 T G 12: 4,295,976 N457T probably benign Het
Neb T C 2: 52,161,477 probably null Het
Nlrp4e C A 7: 23,355,203 N927K probably damaging Het
Npffr2 T C 5: 89,582,754 M181T probably benign Het
Nxf7 A T X: 135,584,383 C495S possibly damaging Het
Oas1g T C 5: 120,887,529 T12A probably benign Het
Olfr130 C G 17: 38,067,671 R167G possibly damaging Het
Olfr23 T A 11: 73,941,053 V269E probably benign Het
Olfr484 A G 7: 108,124,816 V149A probably benign Het
Olfr591 A T 7: 103,173,283 V118E possibly damaging Het
Olfr744 T A 14: 50,618,579 L119Q probably damaging Het
Papln C T 12: 83,783,379 Q1008* probably null Het
Pcdhb10 A C 18: 37,412,432 D187A probably damaging Het
Phf2 T A 13: 48,804,489 E1016D unknown Het
Phf8 T A X: 151,552,622 D197E probably benign Het
Pikfyve A G 1: 65,196,706 H179R probably damaging Het
Prkcz T A 4: 155,269,140 D250V probably damaging Het
Prpf4 A G 4: 62,422,605 Y419C probably damaging Het
Prr15l C A 11: 96,934,614 Y23* probably null Het
Prr5 T A 15: 84,702,951 S301T probably benign Het
Psg16 T A 7: 17,095,163 I224N probably benign Het
Radil A G 5: 142,543,471 F186L probably damaging Het
Reg3g A T 6: 78,468,561 M1K probably null Het
Rps6ka3 A G X: 159,317,967 Y76C probably damaging Het
Rtl1 C T 12: 109,590,363 V1681I possibly damaging Het
Sfmbt1 C T 14: 30,811,507 R614C probably damaging Het
Slc12a4 A G 8: 105,951,967 S244P probably benign Het
Sptbn1 T C 11: 30,139,250 T671A possibly damaging Het
Supt16 A T 14: 52,174,113 N604K probably damaging Het
Synj2 G A 17: 6,029,783 V1096I probably benign Het
Tas2r129 G T 6: 132,951,196 C32F probably benign Het
Tbc1d25 T C X: 8,172,869 Y140C probably damaging Het
Tdrd7 A G 4: 46,016,987 D709G probably benign Het
Tfap2d C T 1: 19,104,367 R15C possibly damaging Het
Tgfbi C A 13: 56,629,702 T333N probably benign Het
Tnk1 T C 11: 69,855,682 Y235C probably damaging Het
Ttc17 A G 2: 94,378,094 F144S probably benign Het
Twnk G T 19: 45,008,139 G337V possibly damaging Het
Unc13a A G 8: 71,658,032 F464L probably benign Het
Usp17le C A 7: 104,768,460 A492S probably damaging Het
Vmn1r213 A T 13: 23,011,762 M172L probably benign Het
Vmn1r71 G A 7: 10,748,311 T84I probably benign Het
Vmn2r109 C T 17: 20,541,074 V674M probably damaging Het
Vmn2r19 A T 6: 123,335,986 I672F possibly damaging Het
Vmn2r77 T C 7: 86,801,494 V196A probably benign Het
Xdh T A 17: 73,898,362 H1036L probably damaging Het
Zfp930 T A 8: 69,228,296 Y214* probably null Het
Other mutations in Ergic2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01083:Ergic2 APN 6 148195271 missense probably benign
IGL02191:Ergic2 APN 6 148204821 missense probably null 0.12
IGL02719:Ergic2 APN 6 148204819 missense possibly damaging 0.82
IGL02958:Ergic2 APN 6 148181943 makesense probably null
R0416:Ergic2 UTSW 6 148183144 missense probably damaging 1.00
R0727:Ergic2 UTSW 6 148199400 unclassified probably benign
R1835:Ergic2 UTSW 6 148189581 missense possibly damaging 0.61
R1891:Ergic2 UTSW 6 148183079 missense probably damaging 0.99
R1959:Ergic2 UTSW 6 148199354 critical splice donor site probably null
R2504:Ergic2 UTSW 6 148204774 critical splice donor site probably null
R3414:Ergic2 UTSW 6 148206681 splice site probably benign
R3732:Ergic2 UTSW 6 148202522 missense probably damaging 1.00
R3732:Ergic2 UTSW 6 148202522 missense probably damaging 1.00
R3733:Ergic2 UTSW 6 148202522 missense probably damaging 1.00
R3734:Ergic2 UTSW 6 148202522 missense probably damaging 1.00
R5002:Ergic2 UTSW 6 148184158 missense probably benign 0.00
R5083:Ergic2 UTSW 6 148196014 missense probably benign 0.00
R5088:Ergic2 UTSW 6 148183123 missense probably damaging 1.00
R5850:Ergic2 UTSW 6 148183107 missense possibly damaging 0.93
R6541:Ergic2 UTSW 6 148183150 missense probably damaging 1.00
R6652:Ergic2 UTSW 6 148189581 missense probably damaging 1.00
R7073:Ergic2 UTSW 6 148195209 missense probably damaging 1.00
R7167:Ergic2 UTSW 6 148206635 missense probably damaging 1.00
R7275:Ergic2 UTSW 6 148195259 missense probably damaging 1.00
R7299:Ergic2 UTSW 6 148188112 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCCTGTAAGCCCAGTGAGATCTAC -3'
(R):5'- GTGCCTCTAACCTCAGCGATAACC -3'

Sequencing Primer
(F):5'- GCCCAGTGAGATCTACACAGTAAG -3'
(R):5'- CTCAGCGATAACCCTGGTAG -3'
Posted On2013-04-24