Incidental Mutation 'R6798:Gcm2'
ID 533135
Institutional Source Beutler Lab
Gene Symbol Gcm2
Ensembl Gene ENSMUSG00000021362
Gene Name glial cells missing homolog 2
Synonyms Gcm1-rs2
MMRRC Submission 044911-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.735) question?
Stock # R6798 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 41254903-41264511 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41259361 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 36 (D36G)
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: D36G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021791
Gene: ENSMUSG00000021362
AA Change: D36G

DomainStartEndE-ValueType
Pfam:GCM 35 172 4.8e-74 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000225271
AA Change: D36G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.8854 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.4%
Validation Efficiency 97% (73/75)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T C 5: 8,782,364 (GRCm39) Y916H probably damaging Het
Adam11 A G 11: 102,667,834 (GRCm39) I740V probably damaging Het
Adam22 A T 5: 8,210,784 (GRCm39) D161E probably damaging Het
Agap3 A G 5: 24,703,280 (GRCm39) probably null Het
Ank2 T C 3: 126,737,913 (GRCm39) probably benign Het
Aspm T A 1: 139,396,423 (GRCm39) H867Q possibly damaging Het
Aurkaip1 T C 4: 155,917,196 (GRCm39) probably null Het
BC048507 A C 13: 68,011,683 (GRCm39) D20A probably benign Het
Cacna1a G A 8: 85,338,231 (GRCm39) A1704T probably damaging Het
Cep152 A C 2: 125,408,447 (GRCm39) probably null Het
Cep19 T C 16: 31,922,867 (GRCm39) probably null Het
Cfhr4 T C 1: 139,625,859 (GRCm39) T813A probably benign Het
Chd9 A T 8: 91,778,182 (GRCm39) E2731V possibly damaging Het
Chrd T C 16: 20,553,056 (GRCm39) L139P probably damaging Het
Cit A G 5: 116,064,585 (GRCm39) E489G possibly damaging Het
Clcn7 A G 17: 25,378,734 (GRCm39) N720D probably damaging Het
Col6a3 T C 1: 90,722,731 (GRCm39) probably null Het
Dchs2 T A 3: 83,255,593 (GRCm39) Y2430N probably damaging Het
Dpy30 A G 17: 74,614,751 (GRCm39) I64T probably damaging Het
Eif2b3 G T 4: 116,923,655 (GRCm39) W290L probably benign Het
Epha6 T G 16: 60,425,427 (GRCm39) E62A possibly damaging Het
Epha6 C T 16: 60,425,428 (GRCm39) E62K possibly damaging Het
Epha8 C T 4: 136,672,980 (GRCm39) R268Q probably benign Het
Fbxw17 C A 13: 50,587,300 (GRCm39) probably null Het
Fndc8 C T 11: 82,783,217 (GRCm39) T66I probably benign Het
Frmpd1 A G 4: 45,284,850 (GRCm39) T1224A probably benign Het
Glt28d2 T C 3: 85,779,296 (GRCm39) D59G probably benign Het
Gorasp1 T C 9: 119,758,663 (GRCm39) D243G probably benign Het
Gtsf1l T C 2: 162,929,391 (GRCm39) K31E probably benign Het
Heatr5a A G 12: 51,928,048 (GRCm39) V1816A probably benign Het
Il10ra T C 9: 45,167,730 (GRCm39) K274E probably damaging Het
Il1rl2 T C 1: 40,404,400 (GRCm39) I507T probably damaging Het
Jak3 T G 8: 72,133,615 (GRCm39) F408V probably damaging Het
Kdm1b A G 13: 47,222,012 (GRCm39) T484A probably benign Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Map9 T G 3: 82,287,471 (GRCm39) L31W probably damaging Het
Mical2 T C 7: 111,975,266 (GRCm39) probably benign Het
Mt1 A G 8: 94,906,516 (GRCm39) probably benign Het
Myo18b T C 5: 112,909,252 (GRCm39) I1964V probably damaging Het
Nalf1 G A 8: 9,820,205 (GRCm39) Q272* probably null Het
Nod1 A T 6: 54,921,596 (GRCm39) C241S probably damaging Het
Nrxn1 T A 17: 90,937,378 (GRCm39) D685V probably damaging Het
Oog1 A T 12: 87,655,609 (GRCm39) probably null Het
Or11a4 T G 17: 37,536,697 (GRCm39) L227R probably damaging Het
Or2ag13 T C 7: 106,313,402 (GRCm39) Y162C probably damaging Het
Or4k2 A G 14: 50,424,584 (GRCm39) V30A probably benign Het
Or56b1b T A 7: 108,164,967 (GRCm39) K12* probably null Het
P4htm T A 9: 108,460,117 (GRCm39) N219I possibly damaging Het
Pcif1 T C 2: 164,727,711 (GRCm39) L168P possibly damaging Het
Pde4dip A G 3: 97,795,850 (GRCm39) V46A probably benign Het
Pias1 T C 9: 62,799,451 (GRCm39) T480A probably benign Het
Prkd2 A T 7: 16,583,128 (GRCm39) K297* probably null Het
Prl7d1 T A 13: 27,893,380 (GRCm39) probably null Het
Pxdc1 G T 13: 34,836,408 (GRCm39) A4E possibly damaging Het
Rcor1 A G 12: 111,006,320 (GRCm39) probably benign Het
Rev3l A T 10: 39,730,759 (GRCm39) D2761V probably damaging Het
Scgb1b7 A G 7: 31,412,406 (GRCm39) T61A probably damaging Het
Sec14l2 A G 11: 4,061,213 (GRCm39) Y83H probably damaging Het
Setd4 C A 16: 93,386,841 (GRCm39) V286F probably damaging Het
Slc22a29 A G 19: 8,137,968 (GRCm39) S536P probably benign Het
Snx25 T C 8: 46,486,810 (GRCm39) H977R probably damaging Het
Spint5 T A 2: 164,559,060 (GRCm39) C95* probably null Het
Sprr5 G C 3: 92,440,243 (GRCm39) C65W unknown Het
Srgap1 T C 10: 121,761,809 (GRCm39) D113G probably damaging Het
Stxbp2 T A 8: 3,691,180 (GRCm39) S476T probably benign Het
Tg A G 15: 66,550,688 (GRCm39) T273A probably damaging Het
Tnc C T 4: 63,883,841 (GRCm39) R1868H probably benign Het
Trappc10 A G 10: 78,024,665 (GRCm39) Y1155H probably benign Het
Trpm2 T A 10: 77,750,574 (GRCm39) N1341Y probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Zfand1 T G 3: 10,411,236 (GRCm39) K67T probably benign Het
Zfand4 A C 6: 116,305,214 (GRCm39) K214Q probably benign Het
Zfp653 A T 9: 21,968,668 (GRCm39) V465E probably damaging Het
Zswim8 A G 14: 20,766,060 (GRCm39) Y782C 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
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
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'- ACTTTGTTGCTTCAGCCGGG -3'
(R):5'- GCAGCTGGAGATTGACATTGTATAC -3'

Sequencing Primer
(F):5'- TTGTCACAGATGGCTGGCCTC -3'
(R):5'- ATCTTCCAGGGCACAGAA -3'
Posted On 2018-08-29