Incidental Mutation 'R1608:Ier2'
ID 176626
Institutional Source Beutler Lab
Gene Symbol Ier2
Ensembl Gene ENSMUSG00000053560
Gene Name immediate early response 2
Synonyms pip92, ch1
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 84661331-84662852 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84662426 bp (GRCm38)
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: 30,902,479 S797P probably damaging Het
Akap9 T C 5: 3,961,783 Y829H probably damaging Het
Anp32a A G 9: 62,372,093 D74G probably damaging Het
B230118H07Rik T C 2: 101,610,571 E29G probably damaging Het
B3gat1 T C 9: 26,751,816 I13T probably damaging Het
Cbfa2t3 A T 8: 122,647,709 V99D probably damaging Het
Celsr2 C T 3: 108,402,483 C1600Y probably damaging Het
Ddx31 T A 2: 28,859,066 N291K probably damaging Het
Dennd1a T G 2: 37,852,434 M3L probably benign Het
Dnah12 C T 14: 26,766,190 P1017L probably damaging Het
Dnajc6 A T 4: 101,599,167 D86V probably damaging Het
Evx2 T G 2: 74,657,851 K208N probably damaging Het
F13a1 A G 13: 36,868,811 V718A probably damaging Het
Fcho2 T C 13: 98,726,198 D757G probably benign Het
Fmnl2 A G 2: 53,105,537 E424G probably damaging Het
Fryl C T 5: 73,074,751 W424* probably null Het
Gata3 G T 2: 9,874,768 Y97* probably null Het
Gm15446 T A 5: 109,942,457 C192S probably damaging Het
Hdac10 A T 15: 89,125,318 D470E probably benign Het
Kcnh2 T C 5: 24,322,219 T559A probably benign Het
Khk C T 5: 30,930,594 A204V probably damaging Het
Kndc1 T A 7: 139,927,408 M1169K possibly damaging Het
Krtap31-1 A G 11: 99,908,093 S41G probably benign Het
Nabp1 T C 1: 51,473,003 probably null Het
Nphp3 A G 9: 104,035,840 D939G probably benign Het
Olfr513 A T 7: 108,755,102 N82I probably damaging Het
Plcg2 T C 8: 117,614,235 I1089T possibly damaging Het
Ptk2 A T 15: 73,262,575 D558E probably damaging Het
Serpinb6d A G 13: 33,669,129 D168G probably benign Het
Shisa8 G A 15: 82,208,555 P189L probably damaging Het
Shkbp1 A G 7: 27,354,779 V89A probably benign Het
Slc40a1 C T 1: 45,911,297 A332T probably damaging Het
Slc44a3 A T 3: 121,497,847 Y373* probably null Het
Slf2 T C 19: 44,949,001 V722A probably benign Het
Spanxn4 A G 12: 62,687,838 noncoding transcript Het
Stag3 T A 5: 138,298,639 probably null Het
Tanc1 T C 2: 59,797,694 I612T possibly damaging Het
Thbs2 T A 17: 14,685,781 M286L probably benign Het
Top1 T A 2: 160,703,595 N294K probably benign Het
Tpr T G 1: 150,426,893 L1381V probably damaging Het
Trpm8 T G 1: 88,326,432 S126A probably benign Het
Ttc41 A G 10: 86,775,993 Y1075C probably damaging Het
Ubox5 C T 2: 130,597,456 G418D probably benign Het
Vmn1r67 T C 7: 10,446,980 V57A possibly damaging Het
Zbtb5 T C 4: 44,993,500 H628R probably damaging Het
Zfp810 T C 9: 22,278,920 I231V probably benign Het
Other mutations in Ier2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5000:Ier2 UTSW 8 84662724 missense probably damaging 1.00
R5112:Ier2 UTSW 8 84662732 missense probably damaging 1.00
R6639:Ier2 UTSW 8 84662162 missense probably benign 0.26
R8498:Ier2 UTSW 8 84662724 missense probably damaging 1.00
R8794:Ier2 UTSW 8 84662467 missense probably damaging 1.00
R9144:Ier2 UTSW 8 84662637 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