Incidental Mutation 'R1061:Gcm2'
ID 94528
Institutional Source Beutler Lab
Gene Symbol Gcm2
Ensembl Gene ENSMUSG00000021362
Gene Name glial cells missing homolog 2
Synonyms Gcm1-rs2
MMRRC Submission 039147-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.735) question?
Stock # R1061 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 41254903-41264511 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41259347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 41 (W41R)
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: W41R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021791
Gene: ENSMUSG00000021362
AA Change: W41R

DomainStartEndE-ValueType
Pfam:GCM 35 172 4.8e-74 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000225271
AA Change: W41R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225420
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.1%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C T 2: 69,108,153 (GRCm39) A715T probably benign Het
Ampd2 A G 3: 107,983,005 (GRCm39) Y641H probably damaging Het
Aqp4 A T 18: 15,531,248 (GRCm39) V171E probably damaging Het
Arid4a T A 12: 71,121,729 (GRCm39) S381R probably damaging Het
Armc8 T G 9: 99,419,784 (GRCm39) N51H probably damaging Het
Asic5 T A 3: 81,928,308 (GRCm39) Y424N probably damaging Het
Bcl11a A T 11: 24,114,069 (GRCm39) K471* probably null Het
Birc6 A G 17: 74,996,307 (GRCm39) T4494A probably damaging Het
Btbd9 A G 17: 30,746,409 (GRCm39) I139T probably benign Het
Ccdc60 C A 5: 116,310,527 (GRCm39) R178S possibly damaging Het
Cd163 C T 6: 124,286,128 (GRCm39) A226V probably benign Het
Cibar2 C A 8: 120,896,443 (GRCm39) probably null Het
Cog1 T G 11: 113,542,863 (GRCm39) S170A probably benign Het
Cwc15 T C 9: 14,419,211 (GRCm39) L169P probably damaging Het
Cyp3a25 A T 5: 145,923,643 (GRCm39) D333E probably benign Het
Ddc C T 11: 11,779,132 (GRCm39) V331I probably benign Het
Dlc1 T A 8: 37,325,205 (GRCm39) T367S probably benign Het
Dnah17 T C 11: 117,943,514 (GRCm39) D3183G possibly damaging Het
Eif2a T A 3: 58,452,486 (GRCm39) Y165* probably null Het
Eml6 T C 11: 29,727,267 (GRCm39) D1285G probably damaging Het
Fasn T C 11: 120,713,008 (GRCm39) probably null Het
Fbn1 T C 2: 125,187,883 (GRCm39) T1549A probably benign Het
Fezf2 T C 14: 12,342,713 (GRCm38) Y384C probably damaging Het
Flvcr1 A T 1: 190,740,370 (GRCm39) V550E probably benign Het
Gli2 A T 1: 118,782,247 (GRCm39) M160K possibly damaging Het
Gpr61 C T 3: 108,057,623 (GRCm39) R346H probably damaging Het
Hoxa5 A T 6: 52,181,135 (GRCm39) S66T probably benign Het
Hsph1 A T 5: 149,541,883 (GRCm39) V781D possibly damaging Het
Kdm3b G A 18: 34,929,915 (GRCm39) V220M probably damaging Het
Klhl25 T A 7: 75,516,268 (GRCm39) Y391* probably null Het
Mc2r A T 18: 68,540,880 (GRCm39) Y138N probably damaging Het
Mtap C A 4: 89,074,821 (GRCm39) D106E probably benign Het
Nup43 G T 10: 7,543,435 (GRCm39) W37L probably damaging Het
Nxpe2 T A 9: 48,237,663 (GRCm39) E197D probably damaging Het
Odad1 T C 7: 45,591,179 (GRCm39) I218T probably damaging Het
Or10d1c C A 9: 38,893,779 (GRCm39) C187F probably damaging Het
Or55b4 T A 7: 102,133,321 (GRCm39) *335C probably null Het
Or5p60 T C 7: 107,723,663 (GRCm39) Y269C probably damaging Het
Or8h8 A T 2: 86,753,126 (GRCm39) V250D possibly damaging Het
Pitrm1 A G 13: 6,605,611 (GRCm39) H186R probably damaging Het
Pklr C T 3: 89,052,188 (GRCm39) R467C probably damaging Het
Plxna2 A G 1: 194,326,401 (GRCm39) N112D probably damaging Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Ppp3cb A C 14: 20,558,682 (GRCm39) probably null Het
R3hcc1l C T 19: 42,571,865 (GRCm39) R135* probably null Het
Ralyl A C 3: 14,180,761 (GRCm39) D68A probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
S100a1 T C 3: 90,418,619 (GRCm39) N65S probably damaging Het
Scn11a A T 9: 119,624,729 (GRCm39) M531K probably damaging Het
Slc5a5 T A 8: 71,342,865 (GRCm39) M232L probably benign Het
Tet3 A T 6: 83,350,305 (GRCm39) N1054K probably damaging Het
Tg A G 15: 66,570,408 (GRCm39) N1427D probably benign Het
Tns1 A C 1: 73,956,831 (GRCm39) V530G probably damaging Het
Trcg1 C A 9: 57,153,156 (GRCm39) Q600K possibly damaging Het
Tshz3 A G 7: 36,468,131 (GRCm39) E40G probably damaging Het
Usp34 T C 11: 23,334,420 (GRCm39) F1138S possibly damaging Het
Vmn2r26 C T 6: 124,038,603 (GRCm39) T726I probably benign Het
Vmn2r97 A T 17: 19,148,440 (GRCm39) R112* probably null Het
Vwa2 G T 19: 56,897,426 (GRCm39) R577L probably benign Het
Vwa3b A C 1: 37,196,511 (GRCm39) Q46P probably damaging Het
Wdr25 T A 12: 108,958,725 (GRCm39) probably null Het
Wrap53 A G 11: 69,453,226 (GRCm39) L405P probably damaging Het
Zfp629 C A 7: 127,211,161 (GRCm39) W216L probably 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
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
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'- CTGTGATCCGGGCTTCTTAATGTA -3'
Posted On 2014-01-05