Incidental Mutation 'R3176:Ern2'
ID 475998
Institutional Source Beutler Lab
Gene Symbol Ern2
Ensembl Gene ENSMUSG00000030866
Gene Name endoplasmic reticulum to nucleus signalling 2
Synonyms Ire1b
MMRRC Submission 040614-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R3176 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 121769116-121785430 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121780187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 164 (T164A)
Ref Sequence ENSEMBL: ENSMUSP00000033153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033153] [ENSMUST00000206198]
AlphaFold Q9Z2E3
Predicted Effect possibly damaging
Transcript: ENSMUST00000033153
AA Change: T164A

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000033153
Gene: ENSMUSG00000030866
AA Change: T164A

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 possibly damaging
Transcript: ENSMUST00000206198
AA Change: T164A

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
Meta Mutation Damage Score 0.3363 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 100% (28/28)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 C T 8: 87,233,495 (GRCm39) R1269H probably damaging Het
Ace A G 11: 105,867,528 (GRCm39) E164G probably null Het
Als2 A T 1: 59,209,167 (GRCm39) V1464E possibly damaging Het
Atox1 A G 11: 55,341,379 (GRCm39) L52P possibly damaging Het
Btnl10 A G 11: 58,813,216 (GRCm39) K282E probably benign Het
Cdkn3 T C 14: 47,008,934 (GRCm39) probably benign Het
Ces2a A G 8: 105,466,010 (GRCm39) probably benign Het
Col16a1 A G 4: 129,951,792 (GRCm39) K72E probably damaging Het
Col6a5 G A 9: 105,788,306 (GRCm39) R1565* probably null Het
Col6a6 T C 9: 105,663,429 (GRCm39) H36R probably benign Het
Cyp4b1 T C 4: 115,483,047 (GRCm39) N415D possibly damaging Het
Dcp1a A G 14: 30,227,499 (GRCm39) probably benign Het
Dennd4a G T 9: 64,796,275 (GRCm39) R767L probably damaging Het
Dhcr24 T C 4: 106,418,436 (GRCm39) F25L probably benign Het
Dhrs3 A G 4: 144,650,510 (GRCm39) T219A probably benign Het
Dhx58 A G 11: 100,587,805 (GRCm39) F584S probably damaging Het
Dmbt1 A G 7: 130,689,801 (GRCm39) T715A probably benign Het
Dtx3l A G 16: 35,752,543 (GRCm39) S688P probably benign Het
Eogt T A 6: 97,108,355 (GRCm39) I229F probably benign Het
Fam133b A T 5: 3,608,522 (GRCm39) N84I probably damaging Het
Fbxl21 T A 13: 56,684,935 (GRCm39) Y346* probably null Het
Fcgbp C A 7: 27,791,086 (GRCm39) H782Q probably damaging Het
Gm5592 A G 7: 40,937,804 (GRCm39) E362G probably benign Het
Gpatch2l A G 12: 86,291,089 (GRCm39) T91A possibly damaging Het
Hao2 T C 3: 98,787,644 (GRCm39) probably benign Het
Hsp90aa1 T A 12: 110,662,114 (GRCm39) M1L possibly damaging Het
Hsp90aa1 C A 12: 110,662,115 (GRCm39) probably null Het
Itgad C A 7: 127,790,153 (GRCm39) H651N possibly damaging Het
Itgav A G 2: 83,606,886 (GRCm39) D409G probably damaging Het
Kcnt2 A G 1: 140,537,377 (GRCm39) N1119S probably benign Het
Kif15 T C 9: 122,816,905 (GRCm39) probably benign Het
Klhl32 T C 4: 24,682,063 (GRCm39) I207V probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lhfpl5 T C 17: 28,798,920 (GRCm39) I143T possibly damaging Het
Lrrk1 T C 7: 65,955,269 (GRCm39) K431E possibly damaging Het
Mag C T 7: 30,601,073 (GRCm39) probably null Het
Maml3 A T 3: 51,764,351 (GRCm39) N204K possibly damaging Het
Mmut A G 17: 41,269,763 (GRCm39) probably null Het
Mrpl19 T C 6: 81,941,047 (GRCm39) S115G probably damaging Het
Mthfd1l G C 10: 4,098,025 (GRCm39) G954A probably damaging Het
Myo19 A G 11: 84,783,001 (GRCm39) I172V probably benign Het
Naca T C 10: 127,876,530 (GRCm39) probably benign Het
Nbeal2 G A 9: 110,465,955 (GRCm39) probably benign Het
Nfatc2 T C 2: 168,348,914 (GRCm39) N638D possibly damaging Het
Or52r1c C A 7: 102,734,957 (GRCm39) D72E probably damaging Het
Or8b49 T A 9: 38,505,939 (GRCm39) C141S probably damaging Het
Or9s27 A G 1: 92,516,535 (GRCm39) N161S probably benign Het
Padi6 A G 4: 140,462,700 (GRCm39) L307P probably damaging Het
Pafah1b1 G A 11: 74,581,058 (GRCm39) S57F probably damaging Het
Prcd A G 11: 116,550,637 (GRCm39) E103G possibly damaging Het
Prkx A T X: 76,814,881 (GRCm39) F260I probably damaging Het
Rad54l2 A G 9: 106,631,142 (GRCm39) probably null Het
Rb1cc1 T A 1: 6,319,590 (GRCm39) M1003K probably benign Het
Scap A T 9: 110,203,093 (GRCm39) M256L probably benign Het
Sema4c C T 1: 36,588,960 (GRCm39) R722H possibly damaging Het
Septin4 T C 11: 87,458,070 (GRCm39) V148A possibly damaging Het
Sgk1 C T 10: 21,872,500 (GRCm39) R171W probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Spata7 A G 12: 98,603,857 (GRCm39) N75D possibly damaging Het
Tmem120b T A 5: 123,252,167 (GRCm39) I146N probably damaging Het
Ttc23l A G 15: 10,547,318 (GRCm39) F99L possibly damaging Het
Ube3a T A 7: 58,926,267 (GRCm39) C348* probably null Het
Ubr4 T A 4: 139,149,166 (GRCm39) D1777E probably benign Het
Unc79 C A 12: 103,079,476 (GRCm39) D1880E probably damaging Het
Usp36 C T 11: 118,167,585 (GRCm39) probably null Het
Zswim9 T C 7: 13,011,196 (GRCm39) T51A possibly damaging Het
Other mutations in Ern2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01060:Ern2 APN 7 121,769,315 (GRCm39) missense probably damaging 0.99
IGL01324:Ern2 APN 7 121,782,413 (GRCm39) missense possibly damaging 0.88
IGL02185:Ern2 APN 7 121,772,598 (GRCm39) splice site probably benign
IGL02738:Ern2 APN 7 121,782,122 (GRCm39) missense probably damaging 0.99
IGL02750:Ern2 APN 7 121,780,629 (GRCm39) splice site probably benign
IGL03247:Ern2 APN 7 121,770,894 (GRCm39) missense probably benign 0.02
ernie UTSW 7 121,770,884 (GRCm39) critical splice donor site probably null
Ernie2 UTSW 7 121,780,085 (GRCm39) splice site probably benign
ernie3 UTSW 7 121,773,042 (GRCm39) critical splice acceptor site probably null
R0165:Ern2 UTSW 7 121,779,002 (GRCm39) missense probably benign 0.02
R0785:Ern2 UTSW 7 121,770,884 (GRCm39) critical splice donor site probably null
R0801:Ern2 UTSW 7 121,780,085 (GRCm39) splice site probably benign
R1345:Ern2 UTSW 7 121,776,993 (GRCm39) missense probably damaging 1.00
R1649:Ern2 UTSW 7 121,776,623 (GRCm39) missense probably damaging 1.00
R1747:Ern2 UTSW 7 121,773,043 (GRCm39) critical splice acceptor site probably null
R1747:Ern2 UTSW 7 121,773,042 (GRCm39) critical splice acceptor site probably null
R1846:Ern2 UTSW 7 121,775,759 (GRCm39) missense probably benign 0.32
R1899:Ern2 UTSW 7 121,783,065 (GRCm39) splice site probably benign
R1986:Ern2 UTSW 7 121,770,752 (GRCm39) missense probably benign 0.06
R2055:Ern2 UTSW 7 121,783,168 (GRCm39) missense possibly damaging 0.84
R2329:Ern2 UTSW 7 121,772,710 (GRCm39) missense possibly damaging 0.82
R2351:Ern2 UTSW 7 121,770,731 (GRCm39) missense probably damaging 0.97
R2894:Ern2 UTSW 7 121,780,810 (GRCm39) missense possibly damaging 0.94
R3276:Ern2 UTSW 7 121,780,187 (GRCm39) missense possibly damaging 0.89
R3945:Ern2 UTSW 7 121,775,753 (GRCm39) missense probably benign 0.10
R4303:Ern2 UTSW 7 121,777,069 (GRCm39) critical splice acceptor site probably null
R4874:Ern2 UTSW 7 121,775,810 (GRCm39) missense probably benign 0.28
R4943:Ern2 UTSW 7 121,772,481 (GRCm39) missense possibly damaging 0.95
R5184:Ern2 UTSW 7 121,779,182 (GRCm39) missense probably benign 0.03
R5629:Ern2 UTSW 7 121,769,389 (GRCm39) missense probably damaging 1.00
R5770:Ern2 UTSW 7 121,779,130 (GRCm39) missense possibly damaging 0.92
R6255:Ern2 UTSW 7 121,772,495 (GRCm39) missense probably damaging 1.00
R6272:Ern2 UTSW 7 121,775,869 (GRCm39) missense probably benign 0.05
R6277:Ern2 UTSW 7 121,785,330 (GRCm39) missense probably benign
R6624:Ern2 UTSW 7 121,777,006 (GRCm39) missense probably benign 0.00
R6940:Ern2 UTSW 7 121,785,369 (GRCm39) missense probably benign 0.01
R7491:Ern2 UTSW 7 121,769,756 (GRCm39) missense probably damaging 1.00
R7544:Ern2 UTSW 7 121,772,422 (GRCm39) missense probably benign 0.06
R7555:Ern2 UTSW 7 121,769,464 (GRCm39) missense probably damaging 1.00
R7843:Ern2 UTSW 7 121,772,931 (GRCm39) missense probably damaging 1.00
R8281:Ern2 UTSW 7 121,769,483 (GRCm39) missense probably damaging 1.00
R8321:Ern2 UTSW 7 121,772,431 (GRCm39) missense probably damaging 1.00
R8377:Ern2 UTSW 7 121,780,515 (GRCm39) nonsense probably null
R8548:Ern2 UTSW 7 121,777,062 (GRCm39) missense probably damaging 1.00
R8853:Ern2 UTSW 7 121,772,967 (GRCm39) missense probably damaging 1.00
R8929:Ern2 UTSW 7 121,769,363 (GRCm39) missense probably benign 0.03
R8931:Ern2 UTSW 7 121,769,363 (GRCm39) missense probably benign 0.03
R9088:Ern2 UTSW 7 121,772,890 (GRCm39) missense probably damaging 1.00
R9511:Ern2 UTSW 7 121,776,823 (GRCm39) missense probably benign 0.03
R9789:Ern2 UTSW 7 121,769,485 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2017-05-11