Incidental Mutation 'IGL02185:Ern2'
ID283608
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ern2
Ensembl Gene ENSMUSG00000030866
Gene Nameendoplasmic reticulum (ER) to nucleus signalling 2
SynonymsIre1b
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.116) question?
Stock #IGL02185
Quality Score
Status
Chromosome7
Chromosomal Location122169893-122186207 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 122173375 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033153] [ENSMUST00000033154] [ENSMUST00000206198]
Predicted Effect probably benign
Transcript: ENSMUST00000033153
SMART Domains Protein: ENSMUSP00000033153
Gene: ENSMUSG00000030866

DomainStartEndE-ValueType
low complexity region 14 28 N/A INTRINSIC
PQQ 33 64 5.5e-8 SMART
PQQ 115 147 4.7e-4 SMART
PQQ 148 180 6.1e-2 SMART
PQQ 192 223 6.2e-3 SMART
low complexity region 449 461 N/A INTRINSIC
S_TKc 508 768 2.5e-11 SMART
PUG 831 888 9e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000033154
SMART Domains Protein: ENSMUSP00000033154
Gene: ENSMUSG00000030867

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
low complexity region 20 35 N/A INTRINSIC
S_TKc 53 305 7.36e-95 SMART
low complexity region 354 365 N/A INTRINSIC
Pfam:POLO_box 418 479 4.4e-24 PFAM
Pfam:POLO_box 516 583 3.1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000206198
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for disruption of this gene are generally normal but display an increased susceptibility to intestinal inflammation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110043O21Rik A T 4: 35,197,046 W340R probably damaging Het
Adh5 A G 3: 138,451,054 D167G probably benign Het
Cand2 G A 6: 115,789,510 A359T probably benign Het
Cnnm2 T C 19: 46,762,995 V408A probably benign Het
Eloa A G 4: 136,012,979 probably benign Het
Hs6st3 A G 14: 119,868,884 probably null Het
Hydin A T 8: 110,506,476 I1736F possibly damaging Het
Ifrd2 A T 9: 107,591,091 I253F probably benign Het
Kctd7 G A 5: 130,152,458 V241I possibly damaging Het
Lcp1 T C 14: 75,229,300 F616L possibly damaging Het
Lyst C T 13: 13,661,093 Q1787* probably null Het
Mapkbp1 A T 2: 120,014,663 T342S possibly damaging Het
Mcph1 A G 8: 18,668,990 probably benign Het
Mctp2 T C 7: 72,080,823 H868R probably benign Het
Mefv T C 16: 3,715,850 T186A probably benign Het
Nol9 T A 4: 152,057,911 I666N probably damaging Het
Olfr145 A C 9: 37,898,235 Y277S probably damaging Het
Olfr574 T A 7: 102,948,514 N16K probably damaging Het
Olfr775 G T 10: 129,251,035 C167F possibly damaging Het
Pum2 T C 12: 8,748,955 probably null Het
Rpgrip1 A C 14: 52,112,228 K24N possibly damaging Het
Ryr3 T A 2: 112,967,203 T122S probably damaging Het
Sfn A G 4: 133,601,325 S149P probably benign Het
Slc27a2 T A 2: 126,567,816 V306D probably damaging Het
Slc35a1 A G 4: 34,675,584 V81A probably benign Het
Trav21-dv12 A T 14: 53,876,498 D25V probably benign Het
Ttn T C 2: 76,768,534 H11018R possibly damaging Het
Txn1 A T 4: 57,950,883 Y49N probably benign Het
Ulk2 C T 11: 61,782,060 A903T probably damaging Het
Vmn2r77 G A 7: 86,795,152 M4I unknown Het
Vmn2r85 G T 10: 130,418,692 L708I probably benign Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Vrk2 T A 11: 26,535,638 R117* probably null Het
Xpo6 A T 7: 126,113,808 probably benign Het
Zdhhc14 C A 17: 5,752,882 T420K probably benign Het
Zfp334 G T 2: 165,386,949 probably benign Het
Zfp958 T A 8: 4,628,990 C338* probably null Het
Other mutations in Ern2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01060:Ern2 APN 7 122170092 missense probably damaging 0.99
IGL01324:Ern2 APN 7 122183190 missense possibly damaging 0.88
IGL02738:Ern2 APN 7 122182899 missense probably damaging 0.99
IGL02750:Ern2 APN 7 122181406 splice site probably benign
IGL03247:Ern2 APN 7 122171671 missense probably benign 0.02
ernie UTSW 7 122171661 critical splice donor site probably null
Ernie2 UTSW 7 122180862 splice site probably benign
ernie3 UTSW 7 122173819 critical splice acceptor site probably null
R0165:Ern2 UTSW 7 122179779 missense probably benign 0.02
R0785:Ern2 UTSW 7 122171661 critical splice donor site probably null
R0801:Ern2 UTSW 7 122180862 splice site probably benign
R1345:Ern2 UTSW 7 122177770 missense probably damaging 1.00
R1649:Ern2 UTSW 7 122177400 missense probably damaging 1.00
R1747:Ern2 UTSW 7 122173819 critical splice acceptor site probably null
R1747:Ern2 UTSW 7 122173820 critical splice acceptor site probably null
R1846:Ern2 UTSW 7 122176536 missense probably benign 0.32
R1899:Ern2 UTSW 7 122183842 splice site probably benign
R1986:Ern2 UTSW 7 122171529 missense probably benign 0.06
R2055:Ern2 UTSW 7 122183945 missense possibly damaging 0.84
R2329:Ern2 UTSW 7 122173487 missense possibly damaging 0.82
R2351:Ern2 UTSW 7 122171508 missense probably damaging 0.97
R2894:Ern2 UTSW 7 122181587 missense possibly damaging 0.94
R3176:Ern2 UTSW 7 122180964 missense possibly damaging 0.89
R3276:Ern2 UTSW 7 122180964 missense possibly damaging 0.89
R3945:Ern2 UTSW 7 122176530 missense probably benign 0.10
R4303:Ern2 UTSW 7 122177846 critical splice acceptor site probably null
R4874:Ern2 UTSW 7 122176587 missense probably benign 0.28
R4943:Ern2 UTSW 7 122173258 missense possibly damaging 0.95
R5184:Ern2 UTSW 7 122179959 missense probably benign 0.03
R5629:Ern2 UTSW 7 122170166 missense probably damaging 1.00
R5770:Ern2 UTSW 7 122179907 missense possibly damaging 0.92
R6255:Ern2 UTSW 7 122173272 missense probably damaging 1.00
R6272:Ern2 UTSW 7 122176646 missense probably benign 0.05
R6277:Ern2 UTSW 7 122186107 missense probably benign
R6624:Ern2 UTSW 7 122177783 missense probably benign 0.00
R6940:Ern2 UTSW 7 122186146 missense probably benign 0.01
R7491:Ern2 UTSW 7 122170533 missense probably damaging 1.00
R7544:Ern2 UTSW 7 122173199 missense probably benign 0.06
R7555:Ern2 UTSW 7 122170241 missense probably damaging 1.00
R7843:Ern2 UTSW 7 122173708 missense probably damaging 1.00
R8281:Ern2 UTSW 7 122170260 missense probably damaging 1.00
R8321:Ern2 UTSW 7 122173208 missense probably damaging 1.00
R8377:Ern2 UTSW 7 122181292 nonsense probably null
R8548:Ern2 UTSW 7 122177839 missense probably damaging 1.00
Posted On2015-04-16