Incidental Mutation 'R6316:Glis2'
ID 510002
Institutional Source Beutler Lab
Gene Symbol Glis2
Ensembl Gene ENSMUSG00000014303
Gene Name GLIS family zinc finger 2
Synonyms Nkl
MMRRC Submission 044416-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.890) question?
Stock # R6316 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 4412577-4442788 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 4431700 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119723 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014445] [ENSMUST00000014447] [ENSMUST00000141682] [ENSMUST00000156889]
AlphaFold Q8VDL9
Predicted Effect probably benign
Transcript: ENSMUST00000014445
SMART Domains Protein: ENSMUSP00000014445
Gene: ENSMUSG00000014301

DomainStartEndE-ValueType
Pfam:Pam16 1 125 4.9e-63 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000014447
AA Change: L409Q
SMART Domains Protein: ENSMUSP00000014447
Gene: ENSMUSG00000014303
AA Change: L409Q

DomainStartEndE-ValueType
low complexity region 46 58 N/A INTRINSIC
low complexity region 74 100 N/A INTRINSIC
ZnF_C2H2 168 193 1.05e1 SMART
ZnF_C2H2 202 229 8.09e0 SMART
ZnF_C2H2 235 257 1.82e-3 SMART
ZnF_C2H2 263 287 3.16e-3 SMART
ZnF_C2H2 293 317 1.04e-3 SMART
low complexity region 328 342 N/A INTRINSIC
low complexity region 358 385 N/A INTRINSIC
low complexity region 387 402 N/A INTRINSIC
low complexity region 405 418 N/A INTRINSIC
low complexity region 420 445 N/A INTRINSIC
low complexity region 468 475 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122896
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127120
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131250
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135577
Predicted Effect probably benign
Transcript: ENSMUST00000141682
SMART Domains Protein: ENSMUSP00000115728
Gene: ENSMUSG00000014303

DomainStartEndE-ValueType
low complexity region 46 58 N/A INTRINSIC
low complexity region 74 100 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139534
Predicted Effect probably benign
Transcript: ENSMUST00000156889
Meta Mutation Damage Score 0.0797 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 98.0%
Validation Efficiency 97% (38/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear transcription factor with five C2H2-type zinc finger domains. The protein encoded by this gene is widely expressed at low levels in the neural tube and peripheral nervous system and likely promotes neuronal differentiation. It is abundantly expressed in the kidney and may have a role in the regulation of kidney morphogenesis. p120 regulates the expression level of this protein and induces the cleavage of this protein's C-terminal zinc finger domain. This protein also promotes the nuclear translocation of p120. Mutations in this gene cause nephronophthisis (NPHP), an autosomal recessive kidney disease characterized by tubular basement membrane disruption, interstitial lymphohistiocytic cell infiltration, and development of cysts at the corticomedullary border of the kidneys.[provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a fusion allele exhibit decreased kidney weight, kidney atrophy, kidney cysts, and interstitial fibrosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,353,118 (GRCm39) T775A probably benign Het
Adam6a A T 12: 113,509,196 (GRCm39) N523I probably benign Het
Adgrv1 T C 13: 81,647,187 (GRCm39) T3118A possibly damaging Het
Arhgef4 G A 1: 34,762,558 (GRCm39) A605T unknown Het
Asxl3 A G 18: 22,655,839 (GRCm39) Y1283C probably damaging Het
Btbd2 T A 10: 80,480,612 (GRCm39) I319F probably damaging Het
Eno4 G A 19: 58,948,723 (GRCm39) probably null Het
Grin2b A T 6: 135,757,277 (GRCm39) C395S probably benign Het
H1f8 T C 6: 115,925,876 (GRCm39) probably null Het
Kansl1l T A 1: 66,774,744 (GRCm39) Y694F probably benign Het
Kcnj1 A T 9: 32,308,632 (GRCm39) E332V probably damaging Het
Klhdc7a T C 4: 139,694,113 (GRCm39) E278G probably benign Het
Krt33a T C 11: 99,905,027 (GRCm39) N160D probably damaging Het
Ksr2 A G 5: 117,823,567 (GRCm39) N448S probably damaging Het
Lpar6 A G 14: 73,476,774 (GRCm39) Y245C probably damaging Het
Magel2 T C 7: 62,028,467 (GRCm39) I457T possibly damaging Het
Manf A G 9: 106,766,385 (GRCm39) L132P probably damaging Het
Moxd2 T C 6: 40,860,481 (GRCm39) D321G probably damaging Het
Mtmr12 T A 15: 12,236,199 (GRCm39) C153S probably null Het
Muc16 T C 9: 18,553,115 (GRCm39) T4393A probably benign Het
Notch3 T C 17: 32,356,787 (GRCm39) probably null Het
Or9e1 A G 11: 58,732,768 (GRCm39) Y276C probably damaging Het
Pirb T A 7: 3,720,822 (GRCm39) K225N probably damaging Het
Plch1 C T 3: 63,688,811 (GRCm39) W131* probably null Het
Rilpl2 A G 5: 124,615,943 (GRCm39) V69A probably damaging Het
Smdt1 T C 15: 82,232,210 (GRCm39) V99A probably damaging Het
Smpd1 T C 7: 105,204,709 (GRCm39) V196A probably benign Het
Supt20 TCAGCAGCAGCAGCAGCAGCAGCA TCAGCAGCAGCAGCAGCAGCAGCAGCA 3: 54,635,069 (GRCm39) probably benign Het
Tcte1 A G 17: 45,845,786 (GRCm39) H130R probably benign Het
Tead1 C A 7: 112,491,046 (GRCm39) Q296K probably damaging Het
Thoc2l G C 5: 104,667,595 (GRCm39) G706R probably damaging Het
Tmem163 C T 1: 127,479,102 (GRCm39) S139N probably benign Het
Tor1aip2 G T 1: 155,937,840 (GRCm39) D192Y probably damaging Het
Trgv2 G A 13: 19,520,912 (GRCm39) Q61* probably null Het
Trib1 T C 15: 59,521,264 (GRCm39) S85P probably benign Het
Trrap T A 5: 144,750,336 (GRCm39) N1581K probably benign Het
Vmn1r181 G A 7: 23,684,183 (GRCm39) R216Q probably benign Het
Xrn2 A G 2: 146,883,930 (GRCm39) Y563C probably damaging Het
Other mutations in Glis2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01023:Glis2 APN 16 4,429,514 (GRCm39) missense probably damaging 1.00
IGL01680:Glis2 APN 16 4,429,195 (GRCm39) missense possibly damaging 0.82
IGL02055:Glis2 APN 16 4,431,972 (GRCm39) unclassified probably benign
Ginsburg UTSW 16 4,428,197 (GRCm39) nonsense probably null
IGL02802:Glis2 UTSW 16 4,429,735 (GRCm39) critical splice donor site probably null
R0081:Glis2 UTSW 16 4,431,517 (GRCm39) missense probably benign 0.22
R0517:Glis2 UTSW 16 4,429,416 (GRCm39) missense probably damaging 0.98
R2010:Glis2 UTSW 16 4,426,575 (GRCm39) missense probably damaging 0.99
R2145:Glis2 UTSW 16 4,431,506 (GRCm39) missense possibly damaging 0.79
R3780:Glis2 UTSW 16 4,431,760 (GRCm39) unclassified probably benign
R4180:Glis2 UTSW 16 4,429,240 (GRCm39) missense probably benign 0.04
R5213:Glis2 UTSW 16 4,431,946 (GRCm39) unclassified probably benign
R6012:Glis2 UTSW 16 4,429,172 (GRCm39) missense possibly damaging 0.76
R6052:Glis2 UTSW 16 4,431,603 (GRCm39) unclassified probably benign
R6214:Glis2 UTSW 16 4,428,197 (GRCm39) nonsense probably null
R6215:Glis2 UTSW 16 4,428,197 (GRCm39) nonsense probably null
R7172:Glis2 UTSW 16 4,431,339 (GRCm39) missense probably benign 0.32
R7286:Glis2 UTSW 16 4,429,182 (GRCm39) missense possibly damaging 0.93
R7346:Glis2 UTSW 16 4,431,432 (GRCm39) missense possibly damaging 0.83
R7816:Glis2 UTSW 16 4,431,328 (GRCm39) missense probably damaging 1.00
R9097:Glis2 UTSW 16 4,429,640 (GRCm39) missense probably damaging 0.99
R9573:Glis2 UTSW 16 4,429,505 (GRCm39) missense probably damaging 1.00
X0020:Glis2 UTSW 16 4,426,517 (GRCm39) missense probably damaging 1.00
X0027:Glis2 UTSW 16 4,429,321 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GATCATCATCCCGAACCCTG -3'
(R):5'- TAACACCTCTGGACTGCTGG -3'

Sequencing Primer
(F):5'- GCTGCCCTTTTTGGAGGCC -3'
(R):5'- ACAGGTCCAGTACAGTGCCTG -3'
Posted On 2018-04-02