Incidental Mutation 'R3912:Id2'
ID 309474
Institutional Source Beutler Lab
Gene Symbol Id2
Ensembl Gene ENSMUSG00000020644
Gene Name inhibitor of DNA binding 2
Synonyms Idb2, inhibitor of differentiation 2, C78922, bHLHb26
MMRRC Submission 040910-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3912 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 25143798-25146091 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 25145871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 47 (K47*)
Ref Sequence ENSEMBL: ENSMUSP00000152069 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020974] [ENSMUST00000221761] [ENSMUST00000222667]
AlphaFold P41136
Predicted Effect probably null
Transcript: ENSMUST00000020974
AA Change: K47*
SMART Domains Protein: ENSMUSP00000020974
Gene: ENSMUSG00000020644
AA Change: K47*

DomainStartEndE-ValueType
HLH 28 81 6.46e-9 SMART
Predicted Effect probably null
Transcript: ENSMUST00000221761
AA Change: K47*
Predicted Effect probably null
Transcript: ENSMUST00000222667
AA Change: K47*
Meta Mutation Damage Score 0.9665 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (56/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the inhibitor of DNA binding family, members of which are transcriptional regulators that contain a helix-loop-helix (HLH) domain but not a basic domain. Members of the inhibitor of DNA binding family inhibit the functions of basic helix-loop-helix transcription factors in a dominant-negative manner by suppressing their heterodimerization partners through the HLH domains. This protein may play a role in negatively regulating cell differentiation. A pseudogene of this gene is located on chromosome 3. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display postnatal lethality with immune system defects. Homozygotes may also have defects in the digestive tract, kidneys, adipose tissue and in mammary gland development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot1 A G 12: 84,063,806 (GRCm39) S305G probably damaging Het
Acot12 A G 13: 91,918,208 (GRCm39) D167G probably benign Het
Adgra1 T C 7: 139,425,630 (GRCm39) probably null Het
Adh7 T A 3: 137,927,541 (GRCm39) V29E probably damaging Het
Aopep G T 13: 63,304,520 (GRCm39) E402* probably null Het
Atp2c2 A G 8: 120,448,015 (GRCm39) K103E probably damaging Het
Camkk1 A G 11: 72,924,642 (GRCm39) D285G probably benign Het
Ccdc158 G C 5: 92,796,794 (GRCm39) T514S possibly damaging Het
Cdhr5 T A 7: 140,853,770 (GRCm39) D210V probably damaging Het
Cndp1 C T 18: 84,650,124 (GRCm39) D190N probably benign Het
Eepd1 C T 9: 25,394,600 (GRCm39) T288M probably damaging Het
Erbin G T 13: 103,998,795 (GRCm39) T197K probably benign Het
Erbin G A 13: 104,022,846 (GRCm39) probably benign Het
Fnip2 A T 3: 79,386,812 (GRCm39) D971E possibly damaging Het
Gab2 A G 7: 96,948,280 (GRCm39) Y290C probably damaging Het
Gbp3 C T 3: 142,272,099 (GRCm39) probably benign Het
Gm14326 T C 2: 177,587,658 (GRCm39) K446R probably damaging Het
Herc2 T C 7: 55,748,185 (GRCm39) Y518H probably damaging Het
Ilf2 A G 3: 90,394,367 (GRCm39) N295S probably benign Het
Ilf3 C T 9: 21,309,422 (GRCm39) A526V possibly damaging Het
Ints10 T A 8: 69,266,272 (GRCm39) S478T probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lrrc7 G A 3: 157,997,589 (GRCm39) L158F probably damaging Het
Mroh9 C T 1: 162,893,638 (GRCm39) C179Y probably damaging Het
Mrps18b C T 17: 36,221,831 (GRCm39) V165I probably benign Het
Myrip A G 9: 120,261,682 (GRCm39) S432G probably benign Het
Nutm2 C T 13: 50,626,976 (GRCm39) A377V possibly damaging Het
Or2ag18 A T 7: 106,405,072 (GRCm39) V199D probably damaging Het
Pate4 C A 9: 35,523,140 (GRCm39) M1I probably null Het
Pax7 C A 4: 139,508,209 (GRCm39) W272L probably benign Het
Ppp1r12b C T 1: 134,815,056 (GRCm39) E320K probably damaging Het
Prg4 T C 1: 150,327,619 (GRCm39) Y278C probably damaging Het
Pvr T C 7: 19,643,217 (GRCm39) N339D probably benign Het
Rev3l A G 10: 39,696,552 (GRCm39) I521M probably damaging Het
Ryr2 A G 13: 11,787,313 (GRCm39) I1020T probably damaging Het
Scn4a T A 11: 106,211,542 (GRCm39) I1492F probably damaging Het
Sec16a C T 2: 26,304,399 (GRCm39) G2304D probably damaging Het
Shisa7 T A 7: 4,833,239 (GRCm39) R341* probably null Het
Slc19a3 T A 1: 83,000,424 (GRCm39) M198L probably benign Het
Slc26a8 T A 17: 28,863,753 (GRCm39) N669Y possibly damaging Het
Slco1a7 A G 6: 141,673,362 (GRCm39) F392S probably damaging Het
Snap91 T C 9: 86,674,610 (GRCm39) T534A possibly damaging Het
Susd4 A T 1: 182,715,031 (GRCm39) Y284F probably damaging Het
Tas1r1 A T 4: 152,116,381 (GRCm39) Y418N probably damaging Het
Tdrd12 A G 7: 35,187,138 (GRCm39) I584T probably damaging Het
Tmtc3 A C 10: 100,284,888 (GRCm39) N582K probably damaging Het
Tnfrsf11b G A 15: 54,119,578 (GRCm39) probably benign Het
Trim30a A G 7: 104,060,348 (GRCm39) V476A probably damaging Het
Vmn1r39 C T 6: 66,782,125 (GRCm39) M27I probably benign Het
Vmn2r59 T C 7: 41,695,744 (GRCm39) T223A probably benign Het
Vps35l A G 7: 118,345,613 (GRCm39) T49A possibly damaging Het
Vwa5a T C 9: 38,646,039 (GRCm39) I469T probably damaging Het
Wnt3a A C 11: 59,140,828 (GRCm39) D229E possibly damaging Het
Other mutations in Id2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Id2 APN 12 25,145,355 (GRCm39) nonsense probably null
Stromboli UTSW 12 25,145,820 (GRCm39) missense probably damaging 1.00
R0015:Id2 UTSW 12 25,145,802 (GRCm39) missense probably damaging 1.00
R0750:Id2 UTSW 12 25,145,670 (GRCm39) missense probably damaging 1.00
R5988:Id2 UTSW 12 25,145,723 (GRCm39) missense probably benign 0.02
R7246:Id2 UTSW 12 25,145,820 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGACAGGATGCTGATGTCC -3'
(R):5'- ATTCTGAACCGAGCCTGGTG -3'

Sequencing Primer
(F):5'- CAGGATGCTGATGTCCGTGTTC -3'
(R):5'- AGTCAGCTCAGCCCCCTG -3'
Posted On 2015-04-17