Incidental Mutation 'R4613:Gli2'
ID 350928
Institutional Source Beutler Lab
Gene Symbol Gli2
Ensembl Gene ENSMUSG00000048402
Gene Name GLI-Kruppel family member GLI2
Synonyms
MMRRC Submission 041824-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4613 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 118761862-118981349 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118765241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 970 (V970A)
Ref Sequence ENSEMBL: ENSMUSP00000054837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062483]
AlphaFold Q0VGT2
Predicted Effect probably damaging
Transcript: ENSMUST00000062483
AA Change: V970A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000054837
Gene: ENSMUSG00000048402
AA Change: V970A

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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik A T 17: 48,439,167 (GRCm39) L130I probably benign Het
Abca9 A G 11: 110,035,610 (GRCm39) V670A probably benign Het
Adad1 A G 3: 37,146,182 (GRCm39) N517D probably damaging Het
Ankle2 T C 5: 110,379,245 (GRCm39) L48P probably benign Het
Aoc3 A T 11: 101,228,485 (GRCm39) probably benign Het
Areg A G 5: 91,291,363 (GRCm39) K102R probably benign Het
Bmp1 T C 14: 70,745,963 (GRCm39) T167A probably damaging Het
C4b C T 17: 34,953,525 (GRCm39) G986D probably benign Het
Caml G T 13: 55,772,955 (GRCm39) G200C probably damaging Het
Ccdc40 A C 11: 119,122,358 (GRCm39) R53S probably benign Het
Cdh22 T A 2: 164,985,576 (GRCm39) I337L probably benign Het
Col12a1 A T 9: 79,554,883 (GRCm39) V2065D probably benign Het
Copg2 A G 6: 30,788,531 (GRCm39) S591P probably benign Het
Cyp2d34 G A 15: 82,500,526 (GRCm39) P438S probably damaging Het
Dchs1 T C 7: 105,421,931 (GRCm39) D163G probably damaging Het
Depdc1b T C 13: 108,500,177 (GRCm39) V230A probably damaging Het
Depdc5 T A 5: 33,132,790 (GRCm39) L1300H probably damaging Het
Dnah10 G T 5: 124,839,933 (GRCm39) probably null Het
Dsc2 A T 18: 20,174,876 (GRCm39) D466E probably damaging Het
Dthd1 A G 5: 62,984,411 (GRCm39) D372G probably damaging Het
Eeig2 A T 3: 108,934,571 (GRCm39) F23I probably benign Het
Eogt G T 6: 97,111,265 (GRCm39) Q199K probably benign Het
Epha6 C A 16: 59,486,960 (GRCm39) R1029L possibly damaging Het
Eppin C A 2: 164,431,243 (GRCm39) E128* probably null Het
Fgf20 T C 8: 40,739,652 (GRCm39) R33G probably benign Het
Fgg A G 3: 82,917,397 (GRCm39) N142S probably damaging Het
Fhip2a C A 19: 57,359,619 (GRCm39) P53Q probably damaging Het
Gba1 C T 3: 89,115,951 (GRCm39) probably null Het
Gramd1b A T 9: 40,219,289 (GRCm39) V508D probably damaging Het
Gucy2c T A 6: 136,685,319 (GRCm39) D898V probably damaging Het
Kcnj15 T C 16: 95,096,653 (GRCm39) Y92H probably damaging Het
L3mbtl3 A T 10: 26,158,693 (GRCm39) S652T unknown Het
Ldb2 G T 5: 44,633,893 (GRCm39) Q326K probably benign Het
Lipi C A 16: 75,357,689 (GRCm39) R292L probably benign Het
Lrrc36 G A 8: 106,176,246 (GRCm39) V207I possibly damaging Het
Lyplal1 C T 1: 185,820,949 (GRCm39) G166D probably benign Het
Map1b A T 13: 99,566,810 (GRCm39) Y1970* probably null Het
Map2 A G 1: 66,464,628 (GRCm39) N287D probably damaging Het
Map3k11 A T 19: 5,747,498 (GRCm39) Q578L probably benign Het
Map3k11 G T 19: 5,747,499 (GRCm39) Q578H probably damaging Het
Map4k4 G A 1: 40,056,351 (GRCm39) S1012N probably benign Het
Mapk13 A T 17: 28,988,426 (GRCm39) N15Y probably damaging Het
Mapk15 G A 15: 75,867,759 (GRCm39) A125T probably damaging Het
Mrgprb1 C A 7: 48,097,456 (GRCm39) R152L possibly damaging Het
Mtrex C A 13: 113,058,273 (GRCm39) E53* probably null Het
Muc5ac T G 7: 141,344,840 (GRCm39) Y104D possibly damaging Het
Myo1h A G 5: 114,486,440 (GRCm39) N566S possibly damaging Het
Myo1h C A 5: 114,489,737 (GRCm39) H647Q probably benign Het
Neo1 A G 9: 58,796,324 (GRCm39) I1201T possibly damaging Het
Nlgn1 T C 3: 25,490,186 (GRCm39) T514A probably benign Het
Or10al4 A G 17: 38,037,587 (GRCm39) Y224C probably damaging Het
Or12j4 A T 7: 140,046,981 (GRCm39) Y289F probably damaging Het
Or7a42 A G 10: 78,791,899 (GRCm39) N287D probably damaging Het
Or8d4 T A 9: 40,039,018 (GRCm39) K80* probably null Het
Orc2 A T 1: 58,539,468 (GRCm39) L57* probably null Het
Otoa G A 7: 120,744,791 (GRCm39) V850M probably damaging Het
Pcnx3 T C 19: 5,717,247 (GRCm39) T1579A possibly damaging Het
Pde5a A T 3: 122,616,742 (GRCm39) Y564F probably damaging Het
Pdxk A C 10: 78,283,753 (GRCm39) I147S probably damaging Het
Pfdn5 A G 15: 102,237,187 (GRCm39) D108G probably benign Het
Pink1 T C 4: 138,044,621 (GRCm39) D342G probably damaging Het
Prkacb A T 3: 146,443,753 (GRCm39) V336E probably damaging Het
Ptpro C A 6: 137,393,834 (GRCm39) S13* probably null Het
Rfng A G 11: 120,673,476 (GRCm39) L215P probably damaging Het
Rpn2 T C 2: 157,144,345 (GRCm39) F336L possibly damaging Het
Sacs A G 14: 61,449,246 (GRCm39) probably null Het
Sirpb1a T A 3: 15,482,097 (GRCm39) Y77F probably benign Het
Slc30a8 A G 15: 52,196,971 (GRCm39) D294G probably benign Het
Sox13 T C 1: 133,316,672 (GRCm39) I212V probably benign Het
Srebf2 T A 15: 82,069,549 (GRCm39) I657N possibly damaging Het
Srsf6 C A 2: 162,775,629 (GRCm39) T146K probably benign Het
Strn4 T C 7: 16,558,088 (GRCm39) V162A possibly damaging Het
Sulf2 T C 2: 165,974,525 (GRCm39) D53G probably damaging Het
Tbc1d8 T A 1: 39,411,789 (GRCm39) I1016F probably damaging Het
Tfrc G T 16: 32,437,475 (GRCm39) A278S probably damaging Het
Tnrc6a T G 7: 122,783,512 (GRCm39) probably null Het
Vmn1r83 T C 7: 12,055,695 (GRCm39) I121V probably benign Het
Vps13d T C 4: 144,858,225 (GRCm39) S2200G possibly damaging Het
Washc2 T A 6: 116,206,230 (GRCm39) D397E probably damaging Het
Wipf3 T C 6: 54,462,540 (GRCm39) L250P probably damaging Het
Xirp1 A G 9: 119,848,748 (GRCm39) F45S probably damaging Het
Xpo5 A G 17: 46,547,889 (GRCm39) T910A probably benign Het
Zfp235 T C 7: 23,841,101 (GRCm39) Y507H probably 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
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
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'- TACCACATCATCTGGCAGC -3'
(R):5'- GATCGTGTAAGCCTTCGTACCC -3'

Sequencing Primer
(F):5'- AGGTCGCACTCTAGCCCTG -3'
(R):5'- TGAGCGTGCACTTCCTG -3'
Posted On 2015-10-08