Incidental Mutation 'R9214:Gli2'
ID 699036
Institutional Source Beutler Lab
Gene Symbol Gli2
Ensembl Gene ENSMUSG00000048402
Gene Name GLI-Kruppel family member GLI2
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9214 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 118761862-118981349 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 118795791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 121 (H121Q)
Ref Sequence ENSEMBL: ENSMUSP00000054837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062483] [ENSMUST00000159839] [ENSMUST00000160991] [ENSMUST00000161056] [ENSMUST00000161301] [ENSMUST00000161451] [ENSMUST00000162552] [ENSMUST00000162607]
AlphaFold Q0VGT2
Predicted Effect probably damaging
Transcript: ENSMUST00000062483
AA Change: H121Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000054837
Gene: ENSMUSG00000048402
AA Change: H121Q

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
Predicted Effect probably benign
Transcript: ENSMUST00000159839
SMART Domains Protein: ENSMUSP00000125661
Gene: ENSMUSG00000048402

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
low complexity region 36 43 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160991
Predicted Effect probably benign
Transcript: ENSMUST00000161056
SMART Domains Protein: ENSMUSP00000124768
Gene: ENSMUSG00000048402

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
low complexity region 36 43 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000161301
AA Change: H158Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125342
Gene: ENSMUSG00000048402
AA Change: H158Q

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
low complexity region 36 43 N/A INTRINSIC
low complexity region 58 72 N/A INTRINSIC
low complexity region 296 315 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161451
SMART Domains Protein: ENSMUSP00000124132
Gene: ENSMUSG00000048402

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
low complexity region 36 43 N/A INTRINSIC
low complexity region 94 113 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162552
SMART Domains Protein: ENSMUSP00000125059
Gene: ENSMUSG00000048402

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
low complexity region 36 43 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162607
SMART Domains Protein: ENSMUSP00000123808
Gene: ENSMUSG00000048402

DomainStartEndE-ValueType
low complexity region 120 139 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (64/64)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T C 9: 55,890,653 (GRCm39) D352G probably benign Het
Abi1 A T 2: 22,831,989 (GRCm39) Y447* probably null Het
Acot1 A G 12: 84,064,189 (GRCm39) Y124C Het
Adgrf4 T C 17: 42,978,704 (GRCm39) N213S possibly damaging Het
Alg9 T A 9: 50,717,545 (GRCm39) Y443N probably damaging Het
Bhlhe22 A G 3: 18,109,024 (GRCm39) T25A probably benign Het
Bpifa1 C A 2: 153,985,789 (GRCm39) P35T unknown Het
Btbd16 T C 7: 130,381,437 (GRCm39) probably null Het
Ccdc187 G T 2: 26,183,409 (GRCm39) T197K probably benign Het
Cd209b A G 8: 3,968,771 (GRCm39) V295A probably benign Het
Cdcp3 C T 7: 130,824,481 (GRCm39) S192L possibly damaging Het
Clrn2 G T 5: 45,617,518 (GRCm39) A130S probably benign Het
Cnrip1 A G 11: 17,004,740 (GRCm39) T97A probably damaging Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Col6a5 T C 9: 105,758,940 (GRCm39) T2089A possibly damaging Het
Cyfip1 T A 7: 55,523,273 (GRCm39) probably null Het
Ddx1 A G 12: 13,286,119 (GRCm39) S278P probably benign Het
Dnah12 A C 14: 26,445,060 (GRCm39) E654D probably benign Het
Efcab7 T C 4: 99,735,437 (GRCm39) S154P probably damaging Het
Emcn T C 3: 137,047,029 (GRCm39) F10S probably damaging Het
Fhip2a A G 19: 57,373,756 (GRCm39) H672R probably damaging Het
Flg2 G T 3: 93,110,884 (GRCm39) A971S unknown Het
Gm3633 A G 14: 42,460,359 (GRCm39) probably benign Het
Golga2 T C 2: 32,195,822 (GRCm39) L846P probably damaging Het
Golga7b A T 19: 42,255,440 (GRCm39) I106F probably damaging Het
Hltf T C 3: 20,140,280 (GRCm39) S460P probably benign Het
Hyal5 A G 6: 24,876,403 (GRCm39) Y92C probably damaging Het
Kif19b G A 5: 140,468,257 (GRCm39) R649Q probably benign Het
Mapk1 T A 16: 16,853,549 (GRCm39) C84S probably benign Het
Marchf10 A G 11: 105,281,100 (GRCm39) V395A probably benign Het
Meltf A G 16: 31,697,763 (GRCm39) T7A probably benign Het
Mfhas1 T A 8: 36,057,730 (GRCm39) V735D probably damaging Het
Mia2 G T 12: 59,223,150 (GRCm39) R486L possibly damaging Het
Mmp20 T C 9: 7,628,327 (GRCm39) L25P probably benign Het
Mprip C T 11: 59,650,901 (GRCm39) T1535I possibly damaging Het
Mrpl9 T A 3: 94,355,126 (GRCm39) S233T possibly damaging Het
Muc21 T A 17: 35,931,838 (GRCm39) S783C unknown Het
Nckap5 A C 1: 125,942,376 (GRCm39) V1576G probably benign Het
Ntng1 T C 3: 109,841,921 (GRCm39) Y284C probably damaging Het
Numa1 T A 7: 101,650,139 (GRCm39) V1290D probably damaging Het
Or52l1 T G 7: 104,829,587 (GRCm39) Y326S probably benign Het
Pcdhgc4 A T 18: 37,950,264 (GRCm39) D560V probably damaging Het
Pla2g1b A G 5: 115,610,107 (GRCm39) K84E possibly damaging Het
Pramel16 T C 4: 143,675,750 (GRCm39) I359V probably benign Het
Prrt4 C T 6: 29,170,767 (GRCm39) A562T possibly damaging Het
Rab6a T C 7: 100,275,786 (GRCm39) F33S probably damaging Het
Rgs11 A G 17: 26,427,260 (GRCm39) Y397C probably damaging Het
Rnf43 A T 11: 87,622,111 (GRCm39) H277L probably benign Het
Ryr1 A G 7: 28,785,187 (GRCm39) S1842P possibly damaging Het
Slc25a34 C T 4: 141,350,641 (GRCm39) A123T probably damaging Het
Smoc2 A G 17: 14,556,839 (GRCm39) Y96C probably damaging Het
Sqle A G 15: 59,194,765 (GRCm39) E267G probably benign Het
Sspo G A 6: 48,440,869 (GRCm39) R1777H possibly damaging Het
Stx6 T A 1: 155,067,210 (GRCm39) N133K probably benign Het
Taf7l2 T C 10: 115,948,903 (GRCm39) T208A probably benign Het
Thoc5 A T 11: 4,864,303 (GRCm39) Q320L probably benign Het
Tmc4 G C 7: 3,670,497 (GRCm39) C531W probably damaging Het
Tmigd1 A G 11: 76,801,031 (GRCm39) T173A probably damaging Het
Tpp2 A C 1: 44,031,514 (GRCm39) M1111L probably benign Het
Ttc21a T C 9: 119,772,941 (GRCm39) V206A probably benign Het
Ulk1 A T 5: 110,936,663 (GRCm39) V758E possibly damaging Het
Vdr T A 15: 97,767,600 (GRCm39) H130L probably benign Het
Vps13b A G 15: 35,623,892 (GRCm39) T1270A probably damaging Het
Zc3h13 A G 14: 75,560,991 (GRCm39) D527G unknown Het
Zfp512 C T 5: 31,637,434 (GRCm39) R508W probably damaging Het
Zfp606 A G 7: 12,215,026 (GRCm39) T85A unknown 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
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
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'- CAGCAGTCTGTCCCTATGATGTG -3'
(R):5'- AGTGAGGTATTTGTGCCCCG -3'

Sequencing Primer
(F):5'- ATGAGGGCTTTGACCTAACC -3'
(R):5'- GTGGGTCTTCTCTCTGAGAATGTCAC -3'
Posted On 2022-02-07