Incidental Mutation 'R1640:Gli2'
ID 173418
Institutional Source Beutler Lab
Gene Symbol Gli2
Ensembl Gene ENSMUSG00000048402
Gene Name GLI-Kruppel family member GLI2
Synonyms
MMRRC Submission 039676-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1640 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 118761862-118981349 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118764254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 1299 (H1299R)
Ref Sequence ENSEMBL: ENSMUSP00000054837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062483]
AlphaFold Q0VGT2
Predicted Effect possibly damaging
Transcript: ENSMUST00000062483
AA Change: H1299R

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000054837
Gene: ENSMUSG00000048402
AA Change: H1299R

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: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 92.2%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik C A 8: 125,566,584 (GRCm39) V279L probably damaging Het
Acot6 A T 12: 84,147,900 (GRCm39) Y52F probably damaging Het
Adam22 C T 5: 8,195,689 (GRCm39) V284I probably damaging Het
Agl A T 3: 116,545,739 (GRCm39) H1352Q probably benign Het
Aldh18a1 G A 19: 40,573,943 (GRCm39) P27S probably benign Het
C1ra A G 6: 124,499,233 (GRCm39) N473S probably benign Het
C87436 T C 6: 86,423,233 (GRCm39) L269P probably damaging Het
Calcrl A G 2: 84,164,021 (GRCm39) V390A probably damaging Het
Ccp110 T G 7: 118,314,751 (GRCm39) probably null Het
Cerk A G 15: 86,033,601 (GRCm39) V274A probably damaging Het
Chd1l A T 3: 97,488,307 (GRCm39) S570T probably benign Het
Chst14 T A 2: 118,757,379 (GRCm39) W83R probably damaging Het
Chsy1 A T 7: 65,821,262 (GRCm39) D499V probably benign Het
Ckmt1 C A 2: 121,190,198 (GRCm39) probably null Het
Cnot1 A T 8: 96,496,460 (GRCm39) V282D probably damaging Het
Cntn3 A T 6: 102,218,974 (GRCm39) S549T possibly damaging Het
Cntnap5c A T 17: 58,702,289 (GRCm39) D1203V probably benign Het
Col4a4 A G 1: 82,513,491 (GRCm39) Y169H unknown Het
Cwc22 A G 2: 77,745,874 (GRCm39) F454S possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dhrs7 A T 12: 72,699,089 (GRCm39) W298R possibly damaging Het
Dock7 G T 4: 98,833,483 (GRCm39) T1906N probably damaging Het
Dpy19l3 T C 7: 35,449,203 (GRCm39) T67A probably benign Het
Drc1 A G 5: 30,521,301 (GRCm39) D654G possibly damaging Het
Ech1 A T 7: 28,531,264 (GRCm39) H284L probably damaging Het
Epc1 G A 18: 6,441,175 (GRCm39) Q8* probably null Het
Etv5 A T 16: 22,254,664 (GRCm39) D65E probably damaging Het
F2rl3 A G 8: 73,489,534 (GRCm39) R254G probably benign Het
Fabp5 T G 3: 10,080,170 (GRCm39) F73L probably benign Het
Fbrs T C 7: 127,086,483 (GRCm39) I611T probably damaging Het
Flnc T C 6: 29,433,806 (GRCm39) S117P possibly damaging Het
Frmd4b A C 6: 97,285,634 (GRCm39) S291A possibly damaging Het
Galnt13 A G 2: 54,950,558 (GRCm39) Y413C probably damaging Het
Gfer A G 17: 24,914,337 (GRCm39) Y109H possibly damaging Het
Gm10110 T C 14: 90,135,679 (GRCm39) noncoding transcript Het
Gprc5a T G 6: 135,055,652 (GRCm39) L33W probably damaging Het
Grin3a T C 4: 49,844,721 (GRCm39) T121A probably benign Het
Grk3 A G 5: 113,163,248 (GRCm39) V33A probably benign Het
Hc A T 2: 34,947,336 (GRCm39) Y59* probably null Het
Hrnr A G 3: 93,239,823 (GRCm39) I3354V unknown Het
Hyou1 C G 9: 44,300,703 (GRCm39) T924S probably benign Het
Ifi209 T G 1: 173,464,931 (GRCm39) H20Q probably damaging Het
Ifi44 A G 3: 151,438,171 (GRCm39) V372A probably benign Het
Igdcc4 T A 9: 65,030,077 (GRCm39) L328H probably damaging Het
Jkampl A G 6: 73,445,869 (GRCm39) Y227H probably benign Het
Kif18a A G 2: 109,120,161 (GRCm39) T155A probably benign Het
Kmt2d A G 15: 98,742,938 (GRCm39) probably benign Het
Kri1 T C 9: 21,191,753 (GRCm39) D281G possibly damaging Het
Larp1b T A 3: 40,988,507 (GRCm39) M1K probably null Het
Loxhd1 A G 18: 77,490,259 (GRCm39) D1225G probably damaging Het
Mzf1 A G 7: 12,777,197 (GRCm39) *736Q probably null Het
Naip2 C T 13: 100,298,489 (GRCm39) A516T possibly damaging Het
Ncf2 T A 1: 152,683,784 (GRCm39) M1K probably null Het
Or5t15 T A 2: 86,681,571 (GRCm39) H157L probably benign Het
Or8h10 A C 2: 86,808,963 (GRCm39) M59R probably damaging Het
Parp12 T C 6: 39,073,574 (GRCm39) D417G probably benign Het
Parp12 T C 6: 39,088,612 (GRCm39) H208R probably damaging Het
Pcif1 T C 2: 164,727,603 (GRCm39) I132T probably benign Het
Pck2 A G 14: 55,786,041 (GRCm39) D610G possibly damaging Het
Plbd1 T C 6: 136,617,123 (GRCm39) K185E probably benign Het
Ppp2r5a T C 1: 191,086,126 (GRCm39) M425V probably damaging Het
Rapgef6 T A 11: 54,548,231 (GRCm39) V805D probably damaging Het
Rprd2 C T 3: 95,671,059 (GRCm39) probably benign Het
Ryr3 A G 2: 112,731,178 (GRCm39) S711P probably damaging Het
Slc17a3 T A 13: 24,036,340 (GRCm39) L212* probably null Het
Slc4a8 A G 15: 100,681,668 (GRCm39) D41G probably benign Het
Slc9a3 T A 13: 74,306,937 (GRCm39) V354E probably damaging Het
Spen A G 4: 141,196,254 (GRCm39) I3632T probably damaging Het
Tesc A G 5: 118,192,914 (GRCm39) S77G probably benign Het
Tet3 A T 6: 83,346,297 (GRCm39) V1245D probably benign Het
Tox4 T A 14: 52,530,000 (GRCm39) D553E possibly damaging Het
Tpmt A T 13: 47,180,759 (GRCm39) Y193* probably null Het
Trio T C 15: 27,833,130 (GRCm39) Y1169C probably damaging Het
Urb1 G A 16: 90,569,514 (GRCm39) T1404I probably benign Het
Usp47 T C 7: 111,682,334 (GRCm39) S540P probably damaging Het
Vmn1r178 A T 7: 23,593,548 (GRCm39) M126L possibly damaging Het
Vmn1r223 T C 13: 23,434,348 (GRCm39) F314S probably damaging Het
Vmn2r112 A T 17: 22,824,097 (GRCm39) I451L probably benign Het
Zfc3h1 A G 10: 115,242,806 (GRCm39) probably null Het
Zfp503 A T 14: 22,034,969 (GRCm39) L649Q probably damaging Het
Zfp977 A C 7: 42,229,530 (GRCm39) C332G 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
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'- TGCTGTTGCCCAGAACGTACTC -3'
(R):5'- TCTGCATCAAGAGGGAGCTACACG -3'

Sequencing Primer
(F):5'- GAACGTACTCCACGGTGAC -3'
(R):5'- GCTGAGCCCAAACATTGTC -3'
Posted On 2014-04-24