Incidental Mutation 'IGL02456:Gcm2'
ID 294175
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gcm2
Ensembl Gene ENSMUSG00000021362
Gene Name glial cells missing homolog 2
Synonyms Gcm1-rs2
Accession Numbers
Essential gene? Possibly essential (E-score: 0.735) question?
Stock # IGL02456
Quality Score
Status
Chromosome 13
Chromosomal Location 41254903-41264511 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41256477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 424 (Y424C)
Ref Sequence ENSEMBL: ENSMUSP00000021791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021791] [ENSMUST00000225271]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000021791
AA Change: Y424C

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000021791
Gene: ENSMUSG00000021362
AA Change: Y424C

DomainStartEndE-ValueType
Pfam:GCM 35 172 4.8e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000225271
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225420
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a homolog of the Drosophila glial cells missing gene, which is thought to act as a binary switch between neuronal and glial cell determination. The protein encoded by this gene contains a conserved N-terminal GCM motif that has DNA-binding activity. The protein is a transcription factor that acts as a master regulator of parathyroid development. It has been suggested that this transcription factor might mediate the effect of calcium on parathyroid hormone expression and secretion in parathyroid cells. Mutations in this gene are associated with hypoparathyroidism. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice lack parathyroid glands and exhibit hypocalcemia, hypophosphatemia, a mild abnormal bone phenotype, and partial perinatal lethality. Hypoparathyroidism is observed although parathyroid hormone serum levels are normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik T A X: 126,302,584 (GRCm39) Y174* probably null Het
Apc C A 18: 34,446,935 (GRCm39) S1243* probably null Het
Atp8b5 A G 4: 43,365,578 (GRCm39) T731A probably benign Het
Bcl2a1c T A 9: 114,159,458 (GRCm39) F79I probably damaging Het
Brip1 G T 11: 85,955,925 (GRCm39) L863I possibly damaging Het
Cbx4 T A 11: 118,972,938 (GRCm39) K146* probably null Het
Ces1a C T 8: 93,766,126 (GRCm39) V163I possibly damaging Het
Ces5a C T 8: 94,255,272 (GRCm39) probably benign Het
Cfhr1 A C 1: 139,484,131 (GRCm39) N128K possibly damaging Het
Clcn3 T C 8: 61,394,391 (GRCm39) D46G probably damaging Het
Cntnap1 T G 11: 101,068,955 (GRCm39) I166S probably benign Het
Cntnap3 A T 13: 64,946,872 (GRCm39) probably benign Het
Cntnap5c T A 17: 58,714,739 (GRCm39) probably benign Het
Ddx23 A T 15: 98,545,430 (GRCm39) V626E probably damaging Het
Dele1 T A 18: 38,394,177 (GRCm39) L458Q probably damaging Het
Gm9964 A G 11: 79,187,196 (GRCm39) F84L probably damaging Het
Grn T A 11: 102,326,930 (GRCm39) D509E probably benign Het
Iho1 G T 9: 108,283,820 (GRCm39) T208K probably benign Het
Kdm5c G A X: 151,029,314 (GRCm39) D343N probably damaging Het
Ly75 C T 2: 60,124,125 (GRCm39) M1717I probably benign Het
Map1a C A 2: 121,129,134 (GRCm39) P133T probably damaging Het
Mpp2 C A 11: 101,950,199 (GRCm39) A552S possibly damaging Het
Mtr T C 13: 12,213,980 (GRCm39) I897M probably damaging Het
Npas3 A T 12: 54,095,550 (GRCm39) I337F probably damaging Het
Nup85 T C 11: 115,472,691 (GRCm39) probably benign Het
Or10a49 A G 7: 108,468,257 (GRCm39) Y35H probably benign Het
Or10al2 T A 17: 37,983,340 (GRCm39) M142K possibly damaging Het
Or2t46 T A 11: 58,472,024 (GRCm39) L118H possibly damaging Het
Or51l4 T A 7: 103,404,700 (GRCm39) I31F possibly damaging Het
Or56a5 T C 7: 104,792,966 (GRCm39) N178S probably damaging Het
Pdia4 A T 6: 47,780,429 (GRCm39) D301E probably benign Het
Phf2 C A 13: 48,982,322 (GRCm39) G134C unknown Het
Polr2h T A 16: 20,539,352 (GRCm39) L76H probably damaging Het
Rbm47 G A 5: 66,184,364 (GRCm39) R80C probably damaging Het
Sfmbt1 T C 14: 30,507,837 (GRCm39) S286P probably damaging Het
Slc5a12 T C 2: 110,447,179 (GRCm39) probably benign Het
Tacc2 T C 7: 130,227,991 (GRCm39) S1559P probably benign Het
Tbc1d16 T G 11: 119,101,372 (GRCm39) H46P probably damaging Het
Tbck A G 3: 132,440,475 (GRCm39) probably benign Het
Tmtc4 A T 14: 123,163,374 (GRCm39) probably null Het
Ttc13 T C 8: 125,417,100 (GRCm39) probably null Het
Ttc17 T C 2: 94,193,130 (GRCm39) probably benign Het
Vmn1r121 T A 7: 20,832,438 (GRCm39) M1L possibly damaging Het
Vps13c T C 9: 67,860,258 (GRCm39) S2825P probably damaging Het
Zan A C 5: 137,445,106 (GRCm39) S1718A unknown Het
Zfp39 G T 11: 58,793,626 (GRCm39) Y37* probably null Het
Zfp407 T C 18: 84,576,766 (GRCm39) N1449S probably damaging Het
Zhx2 C A 15: 57,687,035 (GRCm39) D801E possibly damaging Het
Other mutations in Gcm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01312:Gcm2 APN 13 41,256,607 (GRCm39) missense probably damaging 1.00
IGL01476:Gcm2 APN 13 41,259,217 (GRCm39) missense probably damaging 1.00
IGL02034:Gcm2 APN 13 41,259,269 (GRCm39) missense probably damaging 1.00
IGL02186:Gcm2 APN 13 41,258,125 (GRCm39) missense possibly damaging 0.93
IGL03142:Gcm2 APN 13 41,256,711 (GRCm39) missense probably benign 0.01
IGL03184:Gcm2 APN 13 41,258,888 (GRCm39) missense probably damaging 1.00
PIT4403001:Gcm2 UTSW 13 41,256,315 (GRCm39) missense probably benign 0.01
R0227:Gcm2 UTSW 13 41,259,332 (GRCm39) missense probably damaging 0.99
R1061:Gcm2 UTSW 13 41,259,347 (GRCm39) missense probably damaging 1.00
R1813:Gcm2 UTSW 13 41,259,367 (GRCm39) missense probably benign 0.19
R2057:Gcm2 UTSW 13 41,263,430 (GRCm39) start codon destroyed probably null 0.28
R2058:Gcm2 UTSW 13 41,263,430 (GRCm39) start codon destroyed probably null 0.28
R2059:Gcm2 UTSW 13 41,263,430 (GRCm39) start codon destroyed probably null 0.28
R2351:Gcm2 UTSW 13 41,257,094 (GRCm39) missense probably benign 0.02
R4653:Gcm2 UTSW 13 41,256,317 (GRCm39) missense probably benign 0.21
R4782:Gcm2 UTSW 13 41,256,970 (GRCm39) missense possibly damaging 0.66
R4799:Gcm2 UTSW 13 41,256,970 (GRCm39) missense possibly damaging 0.66
R5135:Gcm2 UTSW 13 41,256,435 (GRCm39) missense probably benign
R5162:Gcm2 UTSW 13 41,257,131 (GRCm39) missense probably benign 0.01
R5665:Gcm2 UTSW 13 41,263,387 (GRCm39) missense possibly damaging 0.73
R5756:Gcm2 UTSW 13 41,263,372 (GRCm39) missense probably damaging 1.00
R5771:Gcm2 UTSW 13 41,256,991 (GRCm39) missense probably benign 0.40
R5928:Gcm2 UTSW 13 41,256,874 (GRCm39) missense probably benign 0.00
R5977:Gcm2 UTSW 13 41,256,603 (GRCm39) missense probably damaging 0.99
R6394:Gcm2 UTSW 13 41,263,373 (GRCm39) missense probably damaging 1.00
R6578:Gcm2 UTSW 13 41,259,154 (GRCm39) missense probably damaging 1.00
R6798:Gcm2 UTSW 13 41,259,361 (GRCm39) missense probably damaging 1.00
R7088:Gcm2 UTSW 13 41,256,840 (GRCm39) missense probably damaging 0.98
R7413:Gcm2 UTSW 13 41,259,230 (GRCm39) missense probably damaging 1.00
R7456:Gcm2 UTSW 13 41,256,751 (GRCm39) missense probably benign 0.02
R8293:Gcm2 UTSW 13 41,256,646 (GRCm39) missense probably damaging 1.00
R8738:Gcm2 UTSW 13 41,258,096 (GRCm39) missense probably benign 0.41
R9087:Gcm2 UTSW 13 41,263,406 (GRCm39) missense
R9316:Gcm2 UTSW 13 41,259,328 (GRCm39) missense probably damaging 1.00
R9799:Gcm2 UTSW 13 41,258,924 (GRCm39) missense probably damaging 1.00
Z1088:Gcm2 UTSW 13 41,256,268 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16