Incidental Mutation 'R0308:Gli2'
ID 24936
Institutional Source Beutler Lab
Gene Symbol Gli2
Ensembl Gene ENSMUSG00000048402
Gene Name GLI-Kruppel family member GLI2
Synonyms
MMRRC Submission 038518-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0308 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 118761862-118981349 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 118769792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 587 (A587T)
Ref Sequence ENSEMBL: ENSMUSP00000054837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062483]
AlphaFold Q0VGT2
Predicted Effect probably benign
Transcript: ENSMUST00000062483
AA Change: A587T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000054837
Gene: ENSMUSG00000048402
AA Change: A587T

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
low complexity region 36 43 N/A INTRINSIC
low complexity region 259 278 N/A INTRINSIC
ZnF_C2H2 417 442 4.98e-1 SMART
ZnF_C2H2 450 477 6.57e0 SMART
ZnF_C2H2 483 507 2.09e-3 SMART
ZnF_C2H2 513 538 4.17e-3 SMART
ZnF_C2H2 544 569 1.84e-4 SMART
low complexity region 637 657 N/A INTRINSIC
low complexity region 876 890 N/A INTRINSIC
low complexity region 930 945 N/A INTRINSIC
low complexity region 1035 1053 N/A INTRINSIC
low complexity region 1428 1435 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 95.1%
  • 20x: 89.5%
Validation Efficiency 100% (82/82)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized as transcription factors which bind DNA through zinc finger motifs. These motifs contain conserved H-C links. Gli family zinc finger proteins are mediators of Sonic hedgehog (Shh) signaling and they are implicated as potent oncogenes in the embryonal carcinoma cell. The protein encoded by this gene localizes to the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. The encoded protein is associated with several phenotypes- Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit skeletal malformations, absence of floorplate and foregut, lung and anorectal defects, and altered commissural neuron guidance. Most mutants die before embryonic day 18.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A T 4: 39,450,989 (GRCm39) D65V probably damaging Het
4933407L21Rik A T 1: 85,859,007 (GRCm39) probably benign Het
Abcc12 C T 8: 87,284,381 (GRCm39) probably benign Het
Adamts12 A G 15: 11,311,646 (GRCm39) E1301G probably damaging Het
Adh4 A T 3: 138,129,863 (GRCm39) N230Y probably damaging Het
Anapc15-ps T A 10: 95,508,954 (GRCm39) M109L probably benign Het
Angpt2 T C 8: 18,742,141 (GRCm39) I472V possibly damaging Het
Arhgef26 C A 3: 62,247,820 (GRCm39) D301E probably benign Het
Armc10 G A 5: 21,852,295 (GRCm39) probably benign Het
Atm T C 9: 53,365,773 (GRCm39) probably null Het
Atp5f1b T C 10: 127,921,908 (GRCm39) V265A probably benign Het
Atp8b1 G T 18: 64,678,315 (GRCm39) C860* probably null Het
Atrnl1 T G 19: 57,741,720 (GRCm39) S1160A probably benign Het
Bmal1 A T 7: 112,890,743 (GRCm39) I179F probably damaging Het
Cep55 A G 19: 38,048,659 (GRCm39) E105G possibly damaging Het
Cfap54 C A 10: 92,721,226 (GRCm39) D2502Y unknown Het
Cilp2 A G 8: 70,335,643 (GRCm39) S452P probably benign Het
Clptm1l A G 13: 73,759,786 (GRCm39) D282G possibly damaging Het
Csrp1 C A 1: 135,673,024 (GRCm39) T47N probably damaging Het
Cyp2c40 T A 19: 39,766,432 (GRCm39) I388F probably damaging Het
Dars1 C T 1: 128,291,996 (GRCm39) R494H probably damaging Het
Dna2 T C 10: 62,792,753 (GRCm39) V256A probably damaging Het
Dock7 T C 4: 98,873,051 (GRCm39) T1132A probably benign Het
Dpcd T G 19: 45,565,445 (GRCm39) F140V probably damaging Het
Elk3 A T 10: 93,101,067 (GRCm39) M228K probably benign Het
Erich6 A G 3: 58,543,525 (GRCm39) F182L probably damaging Het
Fhad1 A G 4: 141,712,904 (GRCm39) probably benign Het
Fryl A T 5: 73,198,947 (GRCm39) probably benign Het
Fzd9 A T 5: 135,278,260 (GRCm39) C542S probably damaging Het
Gba1 A G 3: 89,115,671 (GRCm39) T460A probably benign Het
Gm11011 C T 2: 169,424,614 (GRCm39) probably benign Het
Gmppb A G 9: 107,927,033 (GRCm39) E68G probably benign Het
Gpld1 A G 13: 25,146,818 (GRCm39) N260S possibly damaging Het
Hipk3 G A 2: 104,263,552 (GRCm39) S900L probably damaging Het
Idi2l T G 13: 8,990,877 (GRCm39) probably benign Het
Ints6l A T X: 55,526,715 (GRCm39) M215L possibly damaging Het
Irx6 T A 8: 93,403,659 (GRCm39) L128Q probably damaging Het
Itga10 T C 3: 96,558,780 (GRCm39) S373P probably damaging Het
Jak1 T C 4: 101,011,732 (GRCm39) probably null Het
Jak2 C T 19: 29,289,157 (GRCm39) T1103I probably benign Het
Katnal1 A T 5: 148,815,734 (GRCm39) V401D possibly damaging Het
Krbox5 A G 13: 67,991,232 (GRCm39) probably benign Het
Lrp2 T A 2: 69,313,326 (GRCm39) probably benign Het
Map3k13 A G 16: 21,710,738 (GRCm39) H7R probably benign Het
Mrgprx3-ps A G 7: 46,959,766 (GRCm39) V75A probably benign Het
Nol6 C T 4: 41,123,584 (GRCm39) A55T probably benign Het
Opa1 G A 16: 29,440,349 (GRCm39) R818Q probably damaging Het
Opn4 T C 14: 34,319,081 (GRCm39) Y168C possibly damaging Het
Or8b35 A G 9: 37,904,141 (GRCm39) I118V probably benign Het
Phf21a T C 2: 92,161,122 (GRCm39) V330A possibly damaging Het
Phykpl A G 11: 51,484,423 (GRCm39) probably benign Het
Plcb1 T G 2: 134,655,534 (GRCm39) V38G probably benign Het
Plxna4 T A 6: 32,214,703 (GRCm39) T593S probably benign Het
Poll A T 19: 45,544,404 (GRCm39) I339N probably damaging Het
Rev3l A G 10: 39,700,890 (GRCm39) I1796V probably benign Het
Rnf103 G A 6: 71,486,686 (GRCm39) R439H probably damaging Het
Rrn3 G A 16: 13,617,746 (GRCm39) probably benign Het
Sec14l4 G A 11: 3,991,726 (GRCm39) probably benign Het
Sec23a A C 12: 59,053,985 (GRCm39) Y4* probably null Het
Senp6 T C 9: 80,040,265 (GRCm39) probably null Het
Serpinb6b A T 13: 33,162,220 (GRCm39) N221Y probably benign Het
Slc6a2 A G 8: 93,687,988 (GRCm39) E38G possibly damaging Het
Smap1 A T 1: 23,888,423 (GRCm39) L196I probably damaging Het
Sorbs2 C T 8: 46,248,167 (GRCm39) Q473* probably null Het
Sphkap C A 1: 83,254,690 (GRCm39) V1020F probably damaging Het
Srfbp1 T C 18: 52,621,614 (GRCm39) V225A probably benign Het
Srprb G A 9: 103,079,204 (GRCm39) P728S possibly damaging Het
Tarm1 T C 7: 3,545,187 (GRCm39) probably benign Het
Tcp1 T A 17: 13,139,306 (GRCm39) I162N probably benign Het
Tmem237 C A 1: 59,146,676 (GRCm39) A292S probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Tnpo1 A G 13: 98,983,011 (GRCm39) F884L probably damaging Het
Trim7 A G 11: 48,740,328 (GRCm39) T142A probably damaging Het
Ttn T A 2: 76,616,024 (GRCm39) I14894F probably damaging Het
Tubgcp6 T C 15: 89,006,639 (GRCm39) R128G possibly damaging Het
Ube2d2b A G 5: 107,978,774 (GRCm39) T142A possibly damaging Het
Unc13c G T 9: 73,388,400 (GRCm39) L2129I probably benign Het
Ushbp1 T C 8: 71,843,697 (GRCm39) D247G probably damaging Het
Usp43 G A 11: 67,770,966 (GRCm39) A556V probably damaging Het
Zfp438 T A 18: 5,213,638 (GRCm39) H440L probably benign Het
Zfp518b C T 5: 38,830,113 (GRCm39) E631K possibly damaging Het
Other mutations in Gli2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01410:Gli2 APN 1 118,764,621 (GRCm39) missense probably benign
IGL01686:Gli2 APN 1 118,776,165 (GRCm39) missense probably damaging 1.00
IGL01925:Gli2 APN 1 118,781,106 (GRCm39) missense probably damaging 1.00
IGL02106:Gli2 APN 1 118,764,465 (GRCm39) missense probably benign
IGL02202:Gli2 APN 1 118,764,596 (GRCm39) missense probably damaging 0.96
IGL02255:Gli2 APN 1 118,772,079 (GRCm39) critical splice donor site probably null
IGL02437:Gli2 APN 1 118,763,733 (GRCm39) missense probably damaging 1.00
IGL02615:Gli2 APN 1 118,772,128 (GRCm39) missense probably damaging 1.00
IGL02817:Gli2 APN 1 118,764,101 (GRCm39) missense possibly damaging 0.55
IGL03294:Gli2 APN 1 118,765,166 (GRCm39) missense probably benign
fairyfly UTSW 1 118,768,220 (GRCm39) missense possibly damaging 0.93
flea UTSW 1 118,763,655 (GRCm39) missense probably damaging 0.99
patu_digua UTSW 1 118,765,236 (GRCm39) missense probably damaging 1.00
BB006:Gli2 UTSW 1 118,769,772 (GRCm39) missense possibly damaging 0.88
BB016:Gli2 UTSW 1 118,769,772 (GRCm39) missense possibly damaging 0.88
R0055:Gli2 UTSW 1 118,818,138 (GRCm39) intron probably benign
R0055:Gli2 UTSW 1 118,818,138 (GRCm39) intron probably benign
R0164:Gli2 UTSW 1 118,818,013 (GRCm39) intron probably benign
R0233:Gli2 UTSW 1 118,763,655 (GRCm39) missense probably damaging 0.99
R0233:Gli2 UTSW 1 118,763,655 (GRCm39) missense probably damaging 0.99
R0418:Gli2 UTSW 1 118,768,220 (GRCm39) missense possibly damaging 0.93
R0558:Gli2 UTSW 1 118,765,379 (GRCm39) missense probably benign 0.01
R0600:Gli2 UTSW 1 118,768,119 (GRCm39) missense probably damaging 1.00
R0630:Gli2 UTSW 1 118,769,648 (GRCm39) missense possibly damaging 0.52
R0690:Gli2 UTSW 1 118,772,190 (GRCm39) missense probably damaging 1.00
R0942:Gli2 UTSW 1 118,765,236 (GRCm39) missense probably damaging 1.00
R1061:Gli2 UTSW 1 118,782,247 (GRCm39) missense possibly damaging 0.71
R1104:Gli2 UTSW 1 118,781,080 (GRCm39) missense probably damaging 1.00
R1141:Gli2 UTSW 1 118,765,667 (GRCm39) missense possibly damaging 0.71
R1344:Gli2 UTSW 1 118,769,666 (GRCm39) missense probably damaging 0.98
R1418:Gli2 UTSW 1 118,769,666 (GRCm39) missense probably damaging 0.98
R1565:Gli2 UTSW 1 118,769,660 (GRCm39) missense possibly damaging 0.57
R1605:Gli2 UTSW 1 118,782,290 (GRCm39) missense probably damaging 1.00
R1640:Gli2 UTSW 1 118,764,254 (GRCm39) missense possibly damaging 0.83
R1728:Gli2 UTSW 1 118,929,774 (GRCm39) missense probably benign 0.00
R1728:Gli2 UTSW 1 118,795,817 (GRCm39) missense possibly damaging 0.68
R1729:Gli2 UTSW 1 118,929,774 (GRCm39) missense probably benign 0.00
R1729:Gli2 UTSW 1 118,795,817 (GRCm39) missense possibly damaging 0.68
R1730:Gli2 UTSW 1 118,929,774 (GRCm39) missense probably benign 0.00
R1730:Gli2 UTSW 1 118,795,817 (GRCm39) missense possibly damaging 0.68
R1739:Gli2 UTSW 1 118,929,774 (GRCm39) missense probably benign 0.00
R1739:Gli2 UTSW 1 118,795,817 (GRCm39) missense possibly damaging 0.68
R1762:Gli2 UTSW 1 118,929,774 (GRCm39) missense probably benign 0.00
R1762:Gli2 UTSW 1 118,795,817 (GRCm39) missense possibly damaging 0.68
R1783:Gli2 UTSW 1 118,929,774 (GRCm39) missense probably benign 0.00
R1783:Gli2 UTSW 1 118,795,817 (GRCm39) missense possibly damaging 0.68
R1785:Gli2 UTSW 1 118,929,774 (GRCm39) missense probably benign 0.00
R1785:Gli2 UTSW 1 118,795,817 (GRCm39) missense possibly damaging 0.68
R1874:Gli2 UTSW 1 118,929,779 (GRCm39) missense possibly damaging 0.83
R1969:Gli2 UTSW 1 118,765,430 (GRCm39) missense probably benign 0.00
R2199:Gli2 UTSW 1 118,765,378 (GRCm39) missense possibly damaging 0.95
R2377:Gli2 UTSW 1 118,764,855 (GRCm39) missense possibly damaging 0.90
R2883:Gli2 UTSW 1 118,795,874 (GRCm39) missense probably damaging 0.97
R2924:Gli2 UTSW 1 118,764,089 (GRCm39) missense probably benign 0.00
R4363:Gli2 UTSW 1 118,781,100 (GRCm39) missense probably benign 0.00
R4430:Gli2 UTSW 1 118,764,974 (GRCm39) missense probably benign
R4463:Gli2 UTSW 1 118,763,738 (GRCm39) missense probably damaging 1.00
R4583:Gli2 UTSW 1 118,769,798 (GRCm39) missense probably benign
R4613:Gli2 UTSW 1 118,765,241 (GRCm39) missense probably damaging 1.00
R4674:Gli2 UTSW 1 118,763,759 (GRCm39) missense probably damaging 1.00
R4735:Gli2 UTSW 1 118,768,052 (GRCm39) missense probably damaging 1.00
R4770:Gli2 UTSW 1 118,910,318 (GRCm39) intron probably benign
R4936:Gli2 UTSW 1 118,763,870 (GRCm39) missense probably benign
R5137:Gli2 UTSW 1 118,783,233 (GRCm39) missense probably damaging 1.00
R5228:Gli2 UTSW 1 118,763,936 (GRCm39) missense probably damaging 1.00
R5318:Gli2 UTSW 1 118,772,200 (GRCm39) missense probably damaging 1.00
R5619:Gli2 UTSW 1 118,764,485 (GRCm39) missense probably benign 0.27
R5661:Gli2 UTSW 1 118,781,032 (GRCm39) nonsense probably null
R6005:Gli2 UTSW 1 118,769,794 (GRCm39) missense probably damaging 1.00
R6012:Gli2 UTSW 1 118,765,445 (GRCm39) missense probably damaging 0.99
R6341:Gli2 UTSW 1 118,763,954 (GRCm39) missense probably damaging 1.00
R6357:Gli2 UTSW 1 118,769,689 (GRCm39) missense probably damaging 1.00
R6425:Gli2 UTSW 1 118,763,624 (GRCm39) nonsense probably null
R6513:Gli2 UTSW 1 118,783,284 (GRCm39) missense probably damaging 1.00
R6802:Gli2 UTSW 1 118,769,795 (GRCm39) missense probably damaging 1.00
R6889:Gli2 UTSW 1 118,772,146 (GRCm39) missense probably damaging 1.00
R7259:Gli2 UTSW 1 118,764,264 (GRCm39) missense probably benign
R7378:Gli2 UTSW 1 118,776,222 (GRCm39) missense probably damaging 1.00
R7420:Gli2 UTSW 1 118,763,669 (GRCm39) missense probably benign 0.00
R7489:Gli2 UTSW 1 118,765,905 (GRCm39) missense probably benign 0.00
R7498:Gli2 UTSW 1 118,763,565 (GRCm39) missense possibly damaging 0.89
R7929:Gli2 UTSW 1 118,769,772 (GRCm39) missense possibly damaging 0.88
R8032:Gli2 UTSW 1 118,763,900 (GRCm39) missense probably damaging 0.98
R8150:Gli2 UTSW 1 118,763,558 (GRCm39) missense probably damaging 0.99
R8233:Gli2 UTSW 1 118,772,167 (GRCm39) missense probably damaging 1.00
R8282:Gli2 UTSW 1 118,765,701 (GRCm39) missense probably damaging 1.00
R8312:Gli2 UTSW 1 118,795,842 (GRCm39) intron probably benign
R8686:Gli2 UTSW 1 118,764,417 (GRCm39) missense probably benign
R8698:Gli2 UTSW 1 118,769,887 (GRCm39) missense probably damaging 1.00
R8935:Gli2 UTSW 1 118,764,122 (GRCm39) missense probably damaging 1.00
R8938:Gli2 UTSW 1 118,763,935 (GRCm39) missense probably damaging 1.00
R8955:Gli2 UTSW 1 118,783,187 (GRCm39) missense probably damaging 1.00
R9214:Gli2 UTSW 1 118,795,791 (GRCm39) missense probably damaging 1.00
R9232:Gli2 UTSW 1 118,764,021 (GRCm39) missense probably benign 0.00
R9295:Gli2 UTSW 1 118,764,996 (GRCm39) missense probably damaging 1.00
R9369:Gli2 UTSW 1 118,765,885 (GRCm39) missense probably benign 0.04
R9496:Gli2 UTSW 1 118,764,425 (GRCm39) missense probably benign 0.00
R9757:Gli2 UTSW 1 118,773,652 (GRCm39) missense probably damaging 1.00
X0028:Gli2 UTSW 1 118,765,007 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTCACCTCAGTAGCGTCTATCCTTAG -3'
(R):5'- GGCCTGACTCTTTTCCTAGAAACCC -3'

Sequencing Primer
(F):5'- GAGGCAAATGCATCCTGTG -3'
(R):5'- TTTCCTAGAAACCCTACATCTGCAAG -3'
Posted On 2013-04-16