Incidental Mutation 'R0558:Gli2'
ID 45692
Institutional Source Beutler Lab
Gene Symbol Gli2
Ensembl Gene ENSMUSG00000048402
Gene Name GLI-Kruppel family member GLI2
Synonyms
MMRRC Submission 038750-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0558 (G1)
Quality Score 167
Status Validated
Chromosome 1
Chromosomal Location 118761862-118981349 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118765379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 924 (D924G)
Ref Sequence ENSEMBL: ENSMUSP00000054837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062483]
AlphaFold Q0VGT2
Predicted Effect probably benign
Transcript: ENSMUST00000062483
AA Change: D924G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000054837
Gene: ENSMUSG00000048402
AA Change: D924G

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 0.0909 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 100% (80/80)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G A 19: 43,789,163 (GRCm39) G273R probably benign Het
Adamts10 T C 17: 33,769,583 (GRCm39) V935A probably benign Het
Anapc15-ps T C 10: 95,508,983 (GRCm39) D90G probably damaging Het
Atic T A 1: 71,602,947 (GRCm39) V107E probably benign Het
Atp4b T C 8: 13,443,523 (GRCm39) T52A possibly damaging Het
Cacna1h C T 17: 25,600,524 (GRCm39) A1606T probably damaging Het
Cacng6 T A 7: 3,483,324 (GRCm39) Y217* probably null Het
Cc2d2a T G 5: 43,881,729 (GRCm39) probably benign Het
Cd226 T A 18: 89,225,338 (GRCm39) H78Q probably benign Het
Cers3 A G 7: 66,433,166 (GRCm39) D161G probably damaging Het
Ces1f T C 8: 94,002,017 (GRCm39) H37R probably benign Het
Cfhr4 A G 1: 139,667,230 (GRCm39) V376A probably damaging Het
Chek1 T A 9: 36,623,411 (GRCm39) N421I possibly damaging Het
Cibar1 T C 4: 12,164,095 (GRCm39) D248G probably damaging Het
Cma2 T C 14: 56,210,249 (GRCm39) Y45H probably damaging Het
Cmas C A 6: 142,720,970 (GRCm39) Y401* probably null Het
Cyp2j8 A T 4: 96,332,871 (GRCm39) S492T probably benign Het
Dnah12 T C 14: 26,430,465 (GRCm39) S358P probably benign Het
Dnajc13 T C 9: 104,079,151 (GRCm39) probably null Het
Ep400 A C 5: 110,832,933 (GRCm39) probably benign Het
Fam209 T A 2: 172,314,758 (GRCm39) N82K probably benign Het
G3bp2 A T 5: 92,221,056 (GRCm39) Y20N probably damaging Het
Gm10787 T C 10: 76,857,850 (GRCm39) noncoding transcript Het
Gm11568 A G 11: 99,748,872 (GRCm39) R26G unknown Het
Hivep3 T G 4: 119,953,763 (GRCm39) L693R probably damaging Het
Hook1 A G 4: 95,881,449 (GRCm39) probably benign Het
Ibtk A C 9: 85,619,591 (GRCm39) D116E probably damaging Het
Insrr C T 3: 87,718,288 (GRCm39) T927I possibly damaging Het
Irx1 T G 13: 72,107,747 (GRCm39) S312R probably benign Het
Itga11 T C 9: 62,659,570 (GRCm39) Y441H probably benign Het
Itsn1 A G 16: 91,696,511 (GRCm39) D38G possibly damaging Het
Kat6b G T 14: 21,719,489 (GRCm39) E1280D probably benign Het
Kcnk10 T A 12: 98,402,560 (GRCm39) Y293F possibly damaging Het
Krt74 T A 15: 101,669,398 (GRCm39) noncoding transcript Het
Lars1 T G 18: 42,347,902 (GRCm39) I974L probably benign Het
Limch1 A G 5: 67,126,498 (GRCm39) D42G probably damaging Het
Mau2 G C 8: 70,495,082 (GRCm39) T85R probably damaging Het
Mkrn3 A G 7: 62,068,612 (GRCm39) I393T probably benign Het
Mpl A C 4: 118,301,217 (GRCm39) S541R probably damaging Het
Nfrkb T C 9: 31,321,564 (GRCm39) S754P possibly damaging Het
Or4c125 A G 2: 89,170,580 (GRCm39) L22P probably benign Het
Or5bw2 T C 7: 6,573,652 (GRCm39) Y221H possibly damaging Het
Or5d41 A G 2: 88,054,818 (GRCm39) V186A possibly damaging Het
Or8g18 T A 9: 39,149,496 (GRCm39) T75S probably damaging Het
P2rx7 A T 5: 122,811,861 (GRCm39) I391F possibly damaging Het
Pbrm1 T A 14: 30,807,016 (GRCm39) probably null Het
Pcdh8 T C 14: 80,007,516 (GRCm39) D349G probably damaging Het
Pias1 A G 9: 62,789,291 (GRCm39) S639P possibly damaging Het
Pkhd1l1 A T 15: 44,347,820 (GRCm39) I232F probably damaging Het
Plxnc1 C T 10: 94,673,797 (GRCm39) R995Q probably damaging Het
Pnliprp2 T A 19: 58,762,519 (GRCm39) S375T probably benign Het
Prkar1b C T 5: 139,005,847 (GRCm39) V313M probably benign Het
Prr35 T C 17: 26,166,523 (GRCm39) N338S probably benign Het
Ptpn13 T C 5: 103,677,583 (GRCm39) S734P probably damaging Het
Rdh1 T C 10: 127,595,810 (GRCm39) W2R possibly damaging Het
Rsph10b A T 5: 143,886,156 (GRCm39) I285L probably benign Het
Rubcnl T C 14: 75,284,987 (GRCm39) F502S probably damaging Het
Ryr2 T A 13: 11,653,329 (GRCm39) I3693F probably damaging Het
Ryr2 T C 13: 11,814,747 (GRCm39) Y675C probably damaging Het
Scaper T C 9: 55,593,207 (GRCm39) T477A probably benign Het
Scn2a G T 2: 65,542,269 (GRCm39) V791L probably benign Het
Sdk1 A T 5: 142,117,820 (GRCm39) T1573S probably damaging Het
Sema3c A T 5: 17,919,413 (GRCm39) H483L probably benign Het
Sema6c T C 3: 95,076,002 (GRCm39) S219P probably damaging Het
Slc10a5 T G 3: 10,400,177 (GRCm39) E161A probably damaging Het
Slc22a23 C T 13: 34,528,366 (GRCm39) G139S possibly damaging Het
Slc34a3 C T 2: 25,123,077 (GRCm39) probably benign Het
Slc38a9 A T 13: 112,865,730 (GRCm39) probably null Het
Taok1 A C 11: 77,450,670 (GRCm39) S367R possibly damaging Het
Tlr6 G A 5: 65,112,203 (GRCm39) Q235* probably null Het
Top2a A G 11: 98,887,665 (GRCm39) V1281A probably benign Het
Tpgs1 T C 10: 79,511,616 (GRCm39) Y253H probably damaging Het
Tubgcp3 T C 8: 12,703,462 (GRCm39) T288A probably benign Het
Ubr4 A G 4: 139,154,213 (GRCm39) E2140G probably benign Het
Uso1 A G 5: 92,321,878 (GRCm39) Q257R probably benign Het
Zfp106 A G 2: 120,362,677 (GRCm39) V48A probably damaging Het
Zfp174 T A 16: 3,666,118 (GRCm39) S128T possibly damaging Het
Zscan26 T A 13: 21,629,225 (GRCm39) D426V probably benign 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
R0308:Gli2 UTSW 1 118,769,792 (GRCm39) missense probably benign 0.00
R0418:Gli2 UTSW 1 118,768,220 (GRCm39) missense possibly damaging 0.93
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'- GGTACTGTGGAAACGTTGCACTCG -3'
(R):5'- CCCAGGTTCTGTCCTGGAAAACTTC -3'

Sequencing Primer
(F):5'- CGAGGCAGAATAAGGGGGTC -3'
(R):5'- CTACCAGAGCTGACCGAAGTG -3'
Posted On 2013-06-11