Incidental Mutation 'R4395:Hmga2'
ID 325451
Institutional Source Beutler Lab
Gene Symbol Hmga2
Ensembl Gene ENSMUSG00000056758
Gene Name high mobility group AT-hook 2
Synonyms 9430083A20Rik, HMGI-C, Hmgic
MMRRC Submission 041684-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.347) question?
Stock # R4395 (G1)
Quality Score 85
Status Not validated
Chromosome 10
Chromosomal Location 120197180-120312374 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 120311956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 5 (G5S)
Ref Sequence ENSEMBL: ENSMUSP00000123998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072777] [ENSMUST00000159699]
AlphaFold P52927
Predicted Effect probably damaging
Transcript: ENSMUST00000072777
AA Change: G5S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072556
Gene: ENSMUSG00000056758
AA Change: G5S

DomainStartEndE-ValueType
AT_hook 26 38 1.26e-1 SMART
AT_hook 46 58 1.86e0 SMART
AT_hook 74 86 1.61e-1 SMART
low complexity region 93 107 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159310
Predicted Effect probably damaging
Transcript: ENSMUST00000159699
AA Change: G5S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123998
Gene: ENSMUSG00000056758
AA Change: G5S

DomainStartEndE-ValueType
AT_hook 26 38 1.26e-1 SMART
AT_hook 46 58 1.86e0 SMART
AT_hook 74 86 1.61e-1 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for null mutations exhibit proportionate dwarfing with a significant reduction in body weight, reduced amounts of fat tissue, and infertility in both sexes. Mutants have normal growth hormone levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat1 A G 4: 49,447,679 (GRCm39) Y283H probably benign Het
Adamtsl5 A G 10: 80,180,736 (GRCm39) C109R probably damaging Het
Adgrg4 T G X: 55,977,703 (GRCm39) L2193V probably damaging Het
Alpk3 C T 7: 80,744,703 (GRCm39) S1266F probably damaging Het
Arfgef3 A G 10: 18,473,457 (GRCm39) L1614P probably damaging Het
Atm T C 9: 53,376,527 (GRCm39) R2038G probably benign Het
Bahd1 G A 2: 118,753,004 (GRCm39) R757H probably damaging Het
Capza2 T C 6: 17,656,449 (GRCm39) probably null Het
Cfap43 T C 19: 47,740,352 (GRCm39) T1274A probably benign Het
Chil4 G A 3: 106,111,043 (GRCm39) P284S possibly damaging Het
Cisd3 A G 11: 97,579,212 (GRCm39) Y115C probably damaging Het
Crebl2 A G 6: 134,826,208 (GRCm39) E53G probably damaging Het
Ech1 T C 7: 28,525,671 (GRCm39) S107P probably damaging Het
Fam3b C A 16: 97,282,986 (GRCm39) probably null Het
Fat1 T A 8: 45,405,383 (GRCm39) N711K probably damaging Het
Grm8 T A 6: 27,429,431 (GRCm39) I488F probably damaging Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Ifit3b G T 19: 34,589,951 (GRCm39) E376* probably null Het
Ints5 A G 19: 8,873,808 (GRCm39) E589G probably damaging Het
Iqsec2 C T X: 150,992,049 (GRCm39) T562I probably damaging Het
Lamc3 A G 2: 31,821,964 (GRCm39) E1304G probably benign Het
Ltv1 T C 10: 13,066,323 (GRCm39) Y101C probably benign Het
Maf1 T C 15: 76,236,357 (GRCm39) probably benign Het
Map3k13 A T 16: 21,717,321 (GRCm39) K185N possibly damaging Het
Mtcl3 T C 10: 29,023,351 (GRCm39) S233P probably benign Het
Mtus2 A T 5: 148,013,432 (GRCm39) Q75L probably benign Het
Nod2 T A 8: 89,391,019 (GRCm39) F427Y probably damaging Het
Or1s2 A T 19: 13,758,275 (GRCm39) I100F probably benign Het
Or5p51 A G 7: 107,444,469 (GRCm39) L157P probably damaging Het
Pik3cg T C 12: 32,254,091 (GRCm39) D632G probably damaging Het
Plekhs1 A G 19: 56,468,326 (GRCm39) D298G probably benign Het
Rbm34 T C 8: 127,676,131 (GRCm39) T375A probably benign Het
Slc4a7 C T 14: 14,765,665 (GRCm38) T549I probably damaging Het
Slco1a7 T C 6: 141,657,844 (GRCm39) I565V probably benign Het
Stk17b A G 1: 53,803,274 (GRCm39) I47T probably damaging Het
Tenm2 C T 11: 35,915,451 (GRCm39) V2028I probably benign Het
Tle4 A T 19: 14,495,302 (GRCm39) H142Q probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tnxb C T 17: 34,897,636 (GRCm39) Q804* probably null Het
Trpm2 T C 10: 77,765,053 (GRCm39) I983V probably benign Het
Ttll8 C T 15: 88,799,783 (GRCm39) A553T possibly damaging Het
Ubxn11 G T 4: 133,843,431 (GRCm39) E171D possibly damaging Het
Other mutations in Hmga2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4332:Hmga2 UTSW 10 120,200,117 (GRCm39) utr 3 prime probably benign
R5780:Hmga2 UTSW 10 120,298,583 (GRCm39) nonsense probably null
R6384:Hmga2 UTSW 10 120,206,612 (GRCm39) intron probably benign
R6823:Hmga2 UTSW 10 120,311,929 (GRCm39) missense possibly damaging 0.88
R8944:Hmga2 UTSW 10 120,309,159 (GRCm39) missense probably damaging 0.99
Z1176:Hmga2 UTSW 10 120,206,576 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AAGTCCCTGTCCACGATTCG -3'
(R):5'- TAAGCAGCAGCAGTAGTCCC -3'

Sequencing Primer
(F):5'- ACTCTCCAGGGGAACTCG -3'
(R):5'- TAGTCCCCGGCGCACTC -3'
Posted On 2015-07-06