Incidental Mutation 'R1608:Ier2'
ID 176626
Institutional Source Beutler Lab
Gene Symbol Ier2
Ensembl Gene ENSMUSG00000053560
Gene Name immediate early response 2
Synonyms ch1, pip92
MMRRC Submission 039645-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1608 (G1)
Quality Score 189
Status Not validated
Chromosome 8
Chromosomal Location 85387960-85389481 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85389055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 109 (L109P)
Ref Sequence ENSEMBL: ENSMUSP00000060275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060427]
AlphaFold P17950
Predicted Effect probably benign
Transcript: ENSMUST00000060427
AA Change: L109P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000060275
Gene: ENSMUSG00000053560
AA Change: L109P

DomainStartEndE-ValueType
Pfam:IER 1 204 5.1e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181140
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts15 A G 9: 30,813,775 (GRCm39) S797P probably damaging Het
Akap9 T C 5: 4,011,783 (GRCm39) Y829H probably damaging Het
Anp32a A G 9: 62,279,375 (GRCm39) D74G probably damaging Het
B3gat1 T C 9: 26,663,112 (GRCm39) I13T probably damaging Het
Cbfa2t3 A T 8: 123,374,448 (GRCm39) V99D probably damaging Het
Celsr2 C T 3: 108,309,799 (GRCm39) C1600Y probably damaging Het
Ddx31 T A 2: 28,749,078 (GRCm39) N291K probably damaging Het
Dennd1a T G 2: 37,742,446 (GRCm39) M3L probably benign Het
Dnah12 C T 14: 26,488,147 (GRCm39) P1017L probably damaging Het
Dnajc6 A T 4: 101,456,364 (GRCm39) D86V probably damaging Het
Evx2 T G 2: 74,488,195 (GRCm39) K208N probably damaging Het
F13a1 A G 13: 37,052,785 (GRCm39) V718A probably damaging Het
Fcho2 T C 13: 98,862,706 (GRCm39) D757G probably benign Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Fryl C T 5: 73,232,094 (GRCm39) W424* probably null Het
Gata3 G T 2: 9,879,579 (GRCm39) Y97* probably null Het
Gm15446 T A 5: 110,090,323 (GRCm39) C192S probably damaging Het
Hdac10 A T 15: 89,009,521 (GRCm39) D470E probably benign Het
Iftap T C 2: 101,440,916 (GRCm39) E29G probably damaging Het
Kcnh2 T C 5: 24,527,217 (GRCm39) T559A probably benign Het
Khk C T 5: 31,087,938 (GRCm39) A204V probably damaging Het
Kndc1 T A 7: 139,507,321 (GRCm39) M1169K possibly damaging Het
Krtap31-1 A G 11: 99,798,919 (GRCm39) S41G probably benign Het
Nabp1 T C 1: 51,512,162 (GRCm39) probably null Het
Nphp3 A G 9: 103,913,039 (GRCm39) D939G probably benign Het
Or5e1 A T 7: 108,354,309 (GRCm39) N82I probably damaging Het
Plcg2 T C 8: 118,340,974 (GRCm39) I1089T possibly damaging Het
Ptk2 A T 15: 73,134,424 (GRCm39) D558E probably damaging Het
Serpinb6d A G 13: 33,853,112 (GRCm39) D168G probably benign Het
Shisa8 G A 15: 82,092,756 (GRCm39) P189L probably damaging Het
Shkbp1 A G 7: 27,054,204 (GRCm39) V89A probably benign Het
Slc40a1 C T 1: 45,950,457 (GRCm39) A332T probably damaging Het
Slc44a3 A T 3: 121,291,496 (GRCm39) Y373* probably null Het
Slf2 T C 19: 44,937,440 (GRCm39) V722A probably benign Het
Spanxn4 A G 12: 62,734,624 (GRCm39) noncoding transcript Het
Stag3 T A 5: 138,296,901 (GRCm39) probably null Het
Tanc1 T C 2: 59,628,038 (GRCm39) I612T possibly damaging Het
Thbs2 T A 17: 14,906,043 (GRCm39) M286L probably benign Het
Top1 T A 2: 160,545,515 (GRCm39) N294K probably benign Het
Tpr T G 1: 150,302,644 (GRCm39) L1381V probably damaging Het
Trpm8 T G 1: 88,254,154 (GRCm39) S126A probably benign Het
Ttc41 A G 10: 86,611,857 (GRCm39) Y1075C probably damaging Het
Ubox5 C T 2: 130,439,376 (GRCm39) G418D probably benign Het
Vmn1r67 T C 7: 10,180,907 (GRCm39) V57A possibly damaging Het
Zbtb5 T C 4: 44,993,500 (GRCm39) H628R probably damaging Het
Zfp810 T C 9: 22,190,216 (GRCm39) I231V probably benign Het
Other mutations in Ier2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5000:Ier2 UTSW 8 85,389,353 (GRCm39) missense probably damaging 1.00
R5112:Ier2 UTSW 8 85,389,361 (GRCm39) missense probably damaging 1.00
R6639:Ier2 UTSW 8 85,388,791 (GRCm39) missense probably benign 0.26
R8498:Ier2 UTSW 8 85,389,353 (GRCm39) missense probably damaging 1.00
R8794:Ier2 UTSW 8 85,389,096 (GRCm39) missense probably damaging 1.00
R9144:Ier2 UTSW 8 85,389,266 (GRCm39) missense probably benign 0.39
Predicted Primers PCR Primer
(F):5'- TCCACAGTTCAGGAGACTGGAGAAG -3'
(R):5'- AAGAAGCGCAGCGCATCATGAC -3'

Sequencing Primer
(F):5'- GAAGGCACCTTCGCTTTG -3'
(R):5'- CGGTATGGAAGATGTACCACTCTC -3'
Posted On 2014-04-24