Incidental Mutation 'R4653:Gcm2'
ID 351491
Institutional Source Beutler Lab
Gene Symbol Gcm2
Ensembl Gene ENSMUSG00000021362
Gene Name glial cells missing homolog 2
Synonyms Gcm1-rs2
MMRRC Submission 041913-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.735) question?
Stock # R4653 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 41254903-41264511 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 41256317 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 477 (D477E)
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: D477E

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000021791
Gene: ENSMUSG00000021362
AA Change: D477E

DomainStartEndE-ValueType
Pfam:GCM 35 172 4.8e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000225271
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225420
Meta Mutation Damage Score 0.1006 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (66/68)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,264 (GRCm39) T351A probably benign Het
3930402G23Rik A T 8: 10,976,075 (GRCm39) noncoding transcript Het
4933409G03Rik G A 2: 68,436,559 (GRCm39) E168K unknown Het
Abca4 G T 3: 121,932,230 (GRCm39) E295* probably null Het
Abi3 T C 11: 95,723,637 (GRCm39) I215V probably benign Het
Adhfe1 G T 1: 9,620,803 (GRCm39) probably benign Het
Akr1a1 A G 4: 116,495,156 (GRCm39) probably benign Het
Ank T A 15: 27,590,447 (GRCm39) W344R probably null Het
Cast A G 13: 74,894,133 (GRCm39) S171P probably benign Het
Ccdc39 A G 3: 33,873,955 (GRCm39) probably null Het
Cd180 T A 13: 102,841,416 (GRCm39) L154H probably damaging Het
Cnp A T 11: 100,467,342 (GRCm39) D95V probably benign Het
Cul1 T C 6: 47,461,897 (GRCm39) I20T probably damaging Het
Dnah6 T C 6: 73,050,440 (GRCm39) K3042R possibly damaging Het
Dpy19l1 A C 9: 24,393,350 (GRCm39) S140A possibly damaging Het
Dpys C A 15: 39,656,642 (GRCm39) R475L probably damaging Het
Dync1i2 A G 2: 71,078,199 (GRCm39) N276S probably damaging Het
Ext2 T C 2: 93,526,504 (GRCm39) S711G probably benign Het
Fancm A G 12: 65,129,828 (GRCm39) Y223C probably damaging Het
Folh1 C A 7: 86,393,633 (GRCm39) G360* probably null Het
Garin5b T C 7: 4,761,054 (GRCm39) R553G possibly damaging Het
Gcat T C 15: 78,919,487 (GRCm39) S151P probably damaging Het
Git1 A G 11: 77,395,869 (GRCm39) N468S possibly damaging Het
Gtf3c1 T C 7: 125,273,272 (GRCm39) I622V probably benign Het
Hsd17b13 G A 5: 104,113,702 (GRCm39) L251F probably damaging Het
Lamc1 T G 1: 153,104,523 (GRCm39) S59R probably damaging Het
Llgl1 A G 11: 60,599,477 (GRCm39) D486G possibly damaging Het
Lrrk1 T C 7: 65,922,801 (GRCm39) I1366V probably benign Het
Ly9 G T 1: 171,421,597 (GRCm39) H441Q probably benign Het
Mtcl2 A G 2: 156,882,511 (GRCm39) F514L probably damaging Het
Myo15b G A 11: 115,770,813 (GRCm39) probably null Het
Nomo1 G T 7: 45,711,237 (GRCm39) A639S probably benign Het
P3h2 T C 16: 25,924,027 (GRCm39) D136G probably damaging Het
Pde4dip A T 3: 97,674,654 (GRCm39) D87E probably damaging Het
Pdpk1 A T 17: 24,325,871 (GRCm39) D108E probably benign Het
Pex26 C T 6: 121,167,084 (GRCm39) S231L probably damaging Het
Prpf38b G A 3: 108,811,408 (GRCm39) probably benign Het
Prpf4b A T 13: 35,083,954 (GRCm39) M908L probably benign Het
Prps2 T C X: 166,135,288 (GRCm39) D183G probably damaging Het
R3hdm1 T C 1: 128,112,181 (GRCm39) S422P probably damaging Het
Rhox2a G C X: 36,508,962 (GRCm39) R43P probably benign Het
Rps6-ps2 A G 8: 89,533,319 (GRCm39) noncoding transcript Het
Ryr3 T A 2: 112,483,108 (GRCm39) N4213I probably damaging Het
Slc7a14 A G 3: 31,311,831 (GRCm39) V63A probably damaging Het
Sppl2a C T 2: 126,762,233 (GRCm39) probably null Het
Sspo T A 6: 48,455,580 (GRCm39) W3077R probably damaging Het
Stag1 T A 9: 100,678,769 (GRCm39) M230K probably damaging Het
Sv2a T C 3: 96,098,078 (GRCm39) probably null Het
Themis2 A G 4: 132,510,287 (GRCm39) S638P probably benign Het
Trabd A G 15: 88,970,042 (GRCm39) Y346C probably damaging Het
Trim38 A T 13: 23,966,952 (GRCm39) D133V probably damaging Het
Trmt1l G A 1: 151,315,320 (GRCm39) V16I probably benign Het
Ube2b A G 11: 51,886,199 (GRCm39) probably null Het
Usp13 A T 3: 32,892,073 (GRCm39) Q84L probably damaging Het
Vmn1r172 G T 7: 23,359,997 (GRCm39) G294V probably damaging Het
Vmn2r59 A T 7: 41,693,228 (GRCm39) H457Q probably benign Het
Vmn2r63 A G 7: 42,553,114 (GRCm39) I714T possibly damaging Het
Vps8 T C 16: 21,318,960 (GRCm39) Y602H probably damaging Het
Zbp1 G A 2: 173,049,608 (GRCm39) P385S 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
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
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'- AGCATGCCTTTACACTCACTCTAG -3'
(R):5'- TATGCCTCGGAAAACCTCCC -3'

Sequencing Primer
(F):5'- ACTCACTCTAGTCTTGTGTGTG -3'
(R):5'- TCGGAAAACCTCCCAATGC -3'
Posted On 2015-10-08