Incidental Mutation 'R0227:Gcm2'
ID 34006
Institutional Source Beutler Lab
Gene Symbol Gcm2
Ensembl Gene ENSMUSG00000021362
Gene Name glial cells missing homolog 2
Synonyms Gcm1-rs2
MMRRC Submission 038472-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.735) question?
Stock # R0227 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 41254903-41264511 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 41259332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 46 (V46M)
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: V46M

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021791
Gene: ENSMUSG00000021362
AA Change: V46M

DomainStartEndE-ValueType
Pfam:GCM 35 172 4.8e-74 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000225271
AA Change: V46M

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225420
Meta Mutation Damage Score 0.4389 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.5%
Validation Efficiency 86% (37/43)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430038I01Rik A T 7: 136,989,438 (GRCm39) probably benign Het
Ankrd12 T A 17: 66,294,222 (GRCm39) T404S probably benign Het
Ap4m1 T C 5: 138,174,538 (GRCm39) probably benign Het
Atn1 A T 6: 124,723,893 (GRCm39) probably benign Het
Bcl9l A G 9: 44,416,533 (GRCm39) Y202C possibly damaging Het
Ceacam18 G T 7: 43,288,815 (GRCm39) G189C probably damaging Het
Cfap65 C T 1: 74,971,117 (GRCm39) W67* probably null Het
Col2a1 C T 15: 97,874,636 (GRCm39) E1334K unknown Het
Crim1 A G 17: 78,651,938 (GRCm39) probably benign Het
Csmd1 A G 8: 16,441,836 (GRCm39) S343P probably benign Het
D430041D05Rik G T 2: 104,035,545 (GRCm39) D1594E possibly damaging Het
Ess2 C T 16: 17,720,135 (GRCm39) V406I probably damaging Het
Gm3486 A T 14: 41,206,518 (GRCm39) V185E probably benign Het
Gtf3a C A 5: 146,892,199 (GRCm39) R317S probably damaging Het
Ice2 A G 9: 69,319,510 (GRCm39) I320V probably benign Het
Jag1 A G 2: 136,957,538 (GRCm39) V58A probably benign Het
Macf1 T C 4: 123,293,184 (GRCm39) E1241G probably benign Het
Mogat2 T A 7: 98,872,339 (GRCm39) I171F probably benign Het
Muc6 G A 7: 141,223,981 (GRCm39) probably benign Het
Myo1c A T 11: 75,549,520 (GRCm39) Y201F probably benign Het
Myo9b A G 8: 71,796,806 (GRCm39) I884V probably damaging Het
Nudt9 T C 5: 104,209,541 (GRCm39) I264T possibly damaging Het
Or8g30 A G 9: 39,229,974 (GRCm39) V312A probably benign Het
Pdcd11 AGAGGAGGAGGAGGAGGAGGAGGAG AGAGGAGGAGGAGGAGGAGGAG 19: 47,101,876 (GRCm39) probably benign Het
Rabgef1 T C 5: 130,219,831 (GRCm39) V98A probably damaging Het
Raly A G 2: 154,707,841 (GRCm39) D287G probably damaging Het
Raph1 A G 1: 60,565,136 (GRCm39) V117A probably benign Het
Slc34a2 T C 5: 53,226,968 (GRCm39) F697S possibly damaging Het
Son T A 16: 91,453,761 (GRCm39) M836K probably damaging Het
Spock1 T C 13: 57,588,290 (GRCm39) M258V possibly damaging Het
Stk10 G T 11: 32,567,859 (GRCm39) C887F probably damaging Het
Synpo2 A G 3: 122,907,442 (GRCm39) S625P probably benign Het
Synrg T A 11: 83,900,258 (GRCm39) D821E probably damaging Het
Tafa5 T C 15: 87,604,691 (GRCm39) probably benign Het
Tg C A 15: 66,570,295 (GRCm39) A1389E possibly damaging Het
Tspan33 G A 6: 29,713,477 (GRCm39) V134M probably damaging Het
Ubr4 T C 4: 139,158,960 (GRCm39) F2438L probably benign Het
Vmn1r210 C T 13: 23,011,561 (GRCm39) V242I probably benign Het
Vmn1r63 C T 7: 5,805,741 (GRCm39) W297* probably null Het
Vmn2r92 C T 17: 18,388,219 (GRCm39) A408V probably damaging Het
Zic5 A G 14: 122,697,073 (GRCm39) I514T unknown 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
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
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
Predicted Primers PCR Primer
(F):5'- GCTCCAAAGCCACCATTTCTGC -3'
(R):5'- AAAGCATTCTGACCACGTATAGCCC -3'

Sequencing Primer
(F):5'- CCTTGTCACAGATGGCTGG -3'
(R):5'- TGCCATCTTTTCCCAGGAAC -3'
Posted On 2013-05-09