Incidental Mutation 'R0690:Gli2'
ID 61308
Institutional Source Beutler Lab
Gene Symbol Gli2
Ensembl Gene ENSMUSG00000048402
Gene Name GLI-Kruppel family member GLI2
Synonyms
MMRRC Submission 038875-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0690 (G1)
Quality Score 200
Status Validated
Chromosome 1
Chromosomal Location 118761862-118981349 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 118772190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 505 (R505L)
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: R505L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054837
Gene: ENSMUSG00000048402
AA Change: R505L

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 benign
Transcript: ENSMUST00000161301
SMART Domains Protein: ENSMUSP00000125342
Gene: ENSMUSG00000048402

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
Meta Mutation Damage Score 0.7245 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 97% (87/90)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,860,634 (GRCm39) probably benign Het
Abi3 T C 11: 95,724,460 (GRCm39) probably benign Het
Adam2 T C 14: 66,295,095 (GRCm39) N250S probably damaging Het
Agbl4 T A 4: 111,514,585 (GRCm39) I532K probably benign Het
Agrn T G 4: 156,258,910 (GRCm39) E905A probably damaging Het
Ahi1 A G 10: 20,846,742 (GRCm39) probably benign Het
Aifm2 A G 10: 61,562,231 (GRCm39) N89S probably benign Het
Arsj C T 3: 126,231,833 (GRCm39) T193I probably damaging Het
Ascc2 T A 11: 4,632,933 (GRCm39) V702E probably damaging Het
Avpr1b T C 1: 131,528,019 (GRCm39) S181P probably damaging Het
Bcl7a G A 5: 123,490,003 (GRCm39) V56I possibly damaging Het
Cd160 T A 3: 96,713,102 (GRCm39) D54V probably damaging Het
Celsr2 C A 3: 108,322,293 (GRCm39) R173M probably damaging Het
Cfap57 A G 4: 118,426,924 (GRCm39) probably benign Het
Cfap69 G A 5: 5,713,951 (GRCm39) T27I probably damaging Het
Chaf1b T C 16: 93,696,905 (GRCm39) probably benign Het
Cldn8 C T 16: 88,359,527 (GRCm39) V133M probably damaging Het
Col2a1 A T 15: 97,878,073 (GRCm39) V954E unknown Het
Col6a4 T C 9: 105,905,386 (GRCm39) probably benign Het
Col6a6 T C 9: 105,586,685 (GRCm39) M1779V probably benign Het
Coq8b A G 7: 26,941,674 (GRCm39) E253G probably benign Het
Ctse T C 1: 131,602,516 (GRCm39) probably benign Het
Cyp2c29 T A 19: 39,298,170 (GRCm39) N238K probably benign Het
Dcaf1 T A 9: 106,723,848 (GRCm39) probably benign Het
Dcc A T 18: 71,942,275 (GRCm39) probably benign Het
Dkk1 A G 19: 30,526,745 (GRCm39) F12S probably benign Het
Dnah6 A G 6: 73,106,457 (GRCm39) V1760A probably benign Het
Fam117b G A 1: 59,997,512 (GRCm39) S288N possibly damaging Het
Fam216a A T 5: 122,505,709 (GRCm39) M110K probably damaging Het
Frem3 T A 8: 81,340,581 (GRCm39) I958N possibly damaging Het
Gab1 T A 8: 81,526,745 (GRCm39) N118Y probably damaging Het
Gda T A 19: 21,387,251 (GRCm39) I251L probably benign Het
Gm5093 A T 17: 46,750,664 (GRCm39) I121N possibly damaging Het
Gpnmb C T 6: 49,024,949 (GRCm39) S327L probably benign Het
Gpr156 T A 16: 37,812,503 (GRCm39) Y280N probably damaging Het
Gria4 A G 9: 4,427,071 (GRCm39) Y790H probably damaging Het
Guf1 C A 5: 69,723,695 (GRCm39) probably null Het
H6pd T C 4: 150,067,030 (GRCm39) E452G possibly damaging Het
Herc1 T A 9: 66,294,120 (GRCm39) Y487* probably null Het
Ifi30 T A 8: 71,217,593 (GRCm39) probably benign Het
Klf13 G A 7: 63,587,819 (GRCm39) A159V possibly damaging Het
Med11 T A 11: 70,344,052 (GRCm39) M124K possibly damaging Het
Myom3 A G 4: 135,515,737 (GRCm39) probably benign Het
Nat2 A T 8: 67,954,456 (GRCm39) I189F probably damaging Het
Nhlrc4 C G 17: 26,162,658 (GRCm39) G30R probably damaging Het
Nkx3-2 G A 5: 41,919,470 (GRCm39) R173C probably damaging Het
Nox3 T C 17: 3,745,839 (GRCm39) N23S probably damaging Het
Npr2 A T 4: 43,646,991 (GRCm39) Y708F probably damaging Het
Nsun2 A G 13: 69,777,661 (GRCm39) N409S probably benign Het
Nucb2 T C 7: 116,135,086 (GRCm39) probably benign Het
Or13a26 T C 7: 140,284,700 (GRCm39) F179L possibly damaging Het
Or5be3 A G 2: 86,864,226 (GRCm39) F113S probably damaging Het
Or8b12 T C 9: 37,657,513 (GRCm39) F28L probably benign Het
Orai2 A T 5: 136,190,453 (GRCm39) V52D probably damaging Het
Pcyox1 A T 6: 86,371,424 (GRCm39) M154K probably damaging Het
Pik3r4 C A 9: 105,531,175 (GRCm39) T492K possibly damaging Het
Pmpca T A 2: 26,281,109 (GRCm39) Y150N probably damaging Het
Ppp1r12b G T 1: 134,803,820 (GRCm39) S446R probably damaging Het
Ptpdc1 A G 13: 48,740,381 (GRCm39) I289T probably benign Het
Pyroxd2 A G 19: 42,716,081 (GRCm39) probably benign Het
Qrfpr G A 3: 36,243,708 (GRCm39) T131M probably damaging Het
Rab33b A G 3: 51,400,838 (GRCm39) Y104C probably damaging Het
Rad54l G T 4: 115,956,947 (GRCm39) probably benign Het
Rad9a A T 19: 4,247,359 (GRCm39) probably null Het
Slc1a5 A T 7: 16,520,829 (GRCm39) M233L probably benign Het
Slc47a2 C T 11: 61,233,330 (GRCm39) V67I possibly damaging Het
Slco1a5 T A 6: 142,214,004 (GRCm39) Y39F probably benign Het
Slfn5 T C 11: 82,852,229 (GRCm39) V785A probably damaging Het
Sp6 C T 11: 96,912,370 (GRCm39) P28S possibly damaging Het
Sptbn5 A G 2: 119,893,156 (GRCm39) probably null Het
Sry ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG Y: 2,662,944 (GRCm39) probably benign Het
St8sia1 A G 6: 142,774,980 (GRCm39) W200R probably damaging Het
Stxbp1 C A 2: 32,690,707 (GRCm39) probably benign Het
Syne1 A G 10: 4,983,138 (GRCm39) probably benign Het
Thbs3 T A 3: 89,127,472 (GRCm39) I371N possibly damaging Het
Tll1 C T 8: 64,527,324 (GRCm39) S399N probably damaging Het
Tmem209 A C 6: 30,505,833 (GRCm39) C114G probably null Het
Tmem25 C T 9: 44,706,811 (GRCm39) probably benign Het
Tmem8b T C 4: 43,674,562 (GRCm39) I282T possibly damaging Het
Trdmt1 T A 2: 13,549,391 (GRCm39) H18L probably benign Het
Trim63 A G 4: 134,043,716 (GRCm39) T60A probably benign Het
Trpv2 T C 11: 62,475,502 (GRCm39) probably null Het
Ubr2 A T 17: 47,249,579 (GRCm39) I1591K probably damaging Het
Use1 A T 8: 71,819,709 (GRCm39) probably benign Het
Zfp850 A T 7: 27,684,642 (GRCm39) C35S 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
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
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'- ATTTATACATGCCAGGGCCTCTGC -3'
(R):5'- TGCACGCTCCTGTATTTCACAGTAAAG -3'

Sequencing Primer
(F):5'- TTCTGCATATCGCAGCCA -3'
(R):5'- GTATTTCACAGTAAAGCTCTCCCAC -3'
Posted On 2013-07-30