Incidental Mutation 'IGL01476:Gcm2'
ID 88466
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 # IGL01476
Quality Score
Status
Chromosome 13
Chromosomal Location 41254903-41264511 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41259217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 84 (V84A)
Ref Sequence ENSEMBL: ENSMUSP00000153244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021791] [ENSMUST00000225271]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000021791
AA Change: V84A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021791
Gene: ENSMUSG00000021362
AA Change: V84A

DomainStartEndE-ValueType
Pfam:GCM 35 172 4.8e-74 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000225271
AA Change: V84A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,353,834 (GRCm39) T3719A probably damaging Het
Abcc10 A G 17: 46,638,863 (GRCm39) probably benign Het
Atp13a2 G A 4: 140,728,081 (GRCm39) C558Y probably damaging Het
Btbd1 G A 7: 81,450,797 (GRCm39) R328* probably null Het
Cdk8 A G 5: 146,231,973 (GRCm39) probably null Het
Chd8 A T 14: 52,442,947 (GRCm39) N534K probably benign Het
Cybc1 T C 11: 121,116,671 (GRCm39) Y86C probably damaging Het
Dlgap2 C T 8: 14,828,301 (GRCm39) R570* probably null Het
Eri2 A C 7: 119,389,472 (GRCm39) F149V probably damaging Het
Esyt1 A G 10: 128,347,363 (GRCm39) M1054T probably damaging Het
Got1 A C 19: 43,512,848 (GRCm39) V16G probably damaging Het
Itga9 C T 9: 118,436,179 (GRCm39) R62C probably damaging Het
Kif21a T C 15: 90,828,067 (GRCm39) R1232G possibly damaging Het
Map1a A G 2: 121,135,688 (GRCm39) Y1930C probably damaging Het
Or1e25 T C 11: 73,494,056 (GRCm39) S217P probably damaging Het
Or1j15 T A 2: 36,458,754 (GRCm39) L48H probably damaging Het
Or2ag2b G A 7: 106,417,827 (GRCm39) C179Y probably damaging Het
Pclo A G 5: 14,571,122 (GRCm39) K169R probably damaging Het
Rnf169 A C 7: 99,604,691 (GRCm39) Y174D probably damaging Het
Sarm1 T C 11: 78,381,637 (GRCm39) E282G probably damaging Het
Sec24a A G 11: 51,599,783 (GRCm39) S840P possibly damaging Het
Skor2 A T 18: 76,946,362 (GRCm39) Q28L unknown Het
Slc35f2 T C 9: 53,713,990 (GRCm39) V168A possibly damaging Het
Slc6a7 A T 18: 61,138,845 (GRCm39) L221Q probably damaging Het
Spata31e5 A T 1: 28,816,534 (GRCm39) H499Q probably benign Het
Syt4 A T 18: 31,574,696 (GRCm39) V307E probably damaging Het
Tasp1 A G 2: 139,850,693 (GRCm39) L110S probably benign Het
Thnsl1 T A 2: 21,216,970 (GRCm39) D241E probably benign Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Tpbpb A T 13: 61,049,948 (GRCm39) D60E probably benign Het
Trip11 T C 12: 101,865,170 (GRCm39) I168V probably damaging Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Wscd2 A G 5: 113,710,382 (GRCm39) D302G probably damaging Het
Other mutations in Gcm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01312:Gcm2 APN 13 41,256,607 (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
IGL02456:Gcm2 APN 13 41,256,477 (GRCm39) missense probably benign 0.01
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 2013-11-18