Incidental Mutation 'R7167:Ergic2'
ID557982
Institutional Source Beutler Lab
Gene Symbol Ergic2
Ensembl Gene ENSMUSG00000030304
Gene NameERGIC and golgi 2
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.505) question?
Stock #R7167 (G1)
Quality Score225.009
Status Validated
Chromosome6
Chromosomal Location148179079-148212374 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 148206635 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 2 (R2G)
Ref Sequence ENSEMBL: ENSMUSP00000120456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032446] [ENSMUST00000126698] [ENSMUST00000130242] [ENSMUST00000136008]
Predicted Effect probably damaging
Transcript: ENSMUST00000032446
AA Change: R2G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000126698
AA Change: R2G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116551
Gene: ENSMUSG00000030304
AA Change: R2G

DomainStartEndE-ValueType
Pfam:ERGIC_N 12 100 1.4e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000130242
AA Change: R2G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000136008
AA Change: R2G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120456
Gene: ENSMUSG00000030304
AA Change: R2G

DomainStartEndE-ValueType
Pfam:ERGIC_N 13 101 1.6e-26 PFAM
Pfam:COPIIcoated_ERV 157 333 4.8e-51 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 94% (65/69)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,647,971 V436A probably benign Het
Abcc5 T C 16: 20,405,501 T111A possibly damaging Het
Acsbg2 T A 17: 56,857,000 D203V probably benign Het
Alpk2 G T 18: 65,306,978 T448K probably benign Het
Arhgef2 A G 3: 88,643,872 N780S possibly damaging Het
Atxn2l T C 7: 126,499,222 N252S possibly damaging Het
Bmpr1b A T 3: 141,863,080 L163Q probably benign Het
Clca2 T C 3: 145,097,784 R100G probably benign Het
Col2a1 A G 15: 98,000,456 I79T unknown Het
Csmd1 A G 8: 15,926,524 V2898A probably benign Het
Cux1 G A 5: 136,310,041 probably null Het
Cyp2u1 A G 3: 131,303,124 S2P probably benign Het
Daam1 C A 12: 71,988,904 H958N probably damaging Het
Dnah7a C T 1: 53,503,776 V2412I probably benign Het
Fam159b A G 13: 104,863,658 V19A probably damaging Het
Fat2 T C 11: 55,285,001 T1629A possibly damaging Het
Ftl1 T A 7: 45,459,778 probably benign Het
Fut8 T C 12: 77,448,632 V332A possibly damaging Het
Gm28363 T C 1: 117,727,389 S113P probably damaging Het
Gm6502 G A 5: 94,317,125 A457T possibly damaging Het
Hfe A T 13: 23,708,069 V104E probably damaging Het
Ifih1 A T 2: 62,598,896 N899K probably benign Het
Krt75 A G 15: 101,568,315 S380P possibly damaging Het
Meiob T G 17: 24,836,445 F409V probably damaging Het
Mkrn2os A T 6: 115,585,513 I163N probably damaging Het
Nanos1 G T 19: 60,756,608 G115W probably damaging Het
Naprt C T 15: 75,892,612 A276T probably damaging Het
Oas1e G T 5: 120,795,422 T26N probably benign Het
Olfr1179 A G 2: 88,402,208 V242A possibly damaging Het
Olfr1279 T C 2: 111,306,448 M81T probably benign Het
Olfr355 T C 2: 36,927,521 I198V probably benign Het
Olfr53 T A 7: 140,652,553 C191* probably null Het
Olfr766-ps1 T G 10: 129,063,272 Q245P probably damaging Het
Olfr792 T C 10: 129,540,738 L67P possibly damaging Het
Olfr967 T C 9: 39,750,569 F61S probably damaging Het
Oog2 T G 4: 144,195,175 D218E probably benign Het
Optn T C 2: 5,042,483 N207S probably benign Het
Oxnad1 G T 14: 32,101,019 E236* probably null Het
Pcdha3 G A 18: 36,946,993 A263T probably damaging Het
Pex13 A T 11: 23,655,472 W253R possibly damaging Het
Pip5k1b T A 19: 24,397,069 E49D probably benign Het
Plau C A 14: 20,839,450 F194L possibly damaging Het
Ppm1n A G 7: 19,279,741 L95S probably damaging Het
Radil G T 5: 142,485,505 probably null Het
Ralgapa2 C T 2: 146,348,454 M1266I probably benign Het
Reln A T 5: 21,942,620 L2444Q probably damaging Het
Rims2 T C 15: 39,437,077 V260A probably benign Het
Rnase2b T A 14: 51,162,765 V101E probably damaging Het
Rtp3 T A 9: 110,986,704 T198S probably benign Het
Smad3 T A 9: 63,666,153 D201V probably benign Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,660,334 probably benign Het
Spata7 T G 12: 98,664,296 F371C probably damaging Het
Stag1 T G 9: 100,945,889 N990K probably benign Het
Tbx18 C T 9: 87,707,830 A352T probably damaging Het
Thada C T 17: 84,230,963 R1539Q probably benign Het
Thrap3 A C 4: 126,185,127 probably benign Het
Tnks G A 8: 34,849,304 T887M probably damaging Het
Trap1 A C 16: 4,052,928 V393G probably damaging Het
Trpm4 A G 7: 45,327,719 probably null Het
Trrap G T 5: 144,839,614 G3007C probably benign Het
U2surp A T 9: 95,481,673 N611K probably damaging Het
Usp12 A G 5: 146,768,935 probably null Het
Vmn1r200 A G 13: 22,395,317 T97A possibly damaging Het
Vmn2r110 C T 17: 20,574,179 V743I probably benign Het
Vps50 C T 6: 3,600,256 T905M probably damaging Het
Wdr48 T A 9: 119,907,789 probably null Het
Zfp446 C T 7: 12,978,122 probably benign Het
Zfr T C 15: 12,180,929 S1012P probably benign 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
R0389:Ergic2 UTSW 6 148183202 missense probably benign 0.40
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
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'- TGAGCAGTTACAAAGTCACAGTAAG -3'
(R):5'- GTGACAGTTTCCCACTTCATTG -3'

Sequencing Primer
(F):5'- GTAAGATCCAACAGTGAGCTCTC -3'
(R):5'- CATTGCGTGTTTGCATATTGCC -3'
Posted On2019-06-26