Incidental Mutation 'R8293:Gcm2'
ID 638812
Institutional Source Beutler Lab
Gene Symbol Gcm2
Ensembl Gene ENSMUSG00000021362
Gene Name glial cells missing homolog 2
Synonyms Gcm1-rs2
MMRRC Submission 067783-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.735) question?
Stock # R8293 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 41254903-41264511 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41256646 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 368 (Y368H)
Ref Sequence ENSEMBL: ENSMUSP00000021791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021791]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000021791
AA Change: Y368H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021791
Gene: ENSMUSG00000021362
AA Change: Y368H

DomainStartEndE-ValueType
Pfam:GCM 35 172 4.8e-74 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (58/59)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,061,864 (GRCm39) S105P possibly damaging Het
Acsm1 T G 7: 119,237,319 (GRCm39) S211A possibly damaging Het
Adam4 T A 12: 81,467,185 (GRCm39) R479* probably null Het
Agap3 A C 5: 24,692,883 (GRCm39) S439R probably damaging Het
Arap1 A T 7: 101,050,141 (GRCm39) H1075L probably benign Het
Arhgef28 T C 13: 98,079,029 (GRCm39) E1299G probably benign Het
Bnip5 T C 17: 29,121,864 (GRCm39) K468E probably benign Het
Cc2d2a A T 5: 43,845,570 (GRCm39) I329F probably damaging Het
Ccdc9b T A 2: 118,591,796 (GRCm39) T115S probably damaging Het
Cd200r1 A G 16: 44,610,084 (GRCm39) N101S probably benign Het
Ces2b A C 8: 105,559,258 (GRCm39) T40P unknown Het
Cfap221 A G 1: 119,909,504 (GRCm39) V156A possibly damaging Het
Chrm4 C T 2: 91,758,563 (GRCm39) P324S probably benign Het
Chrna1 T A 2: 73,400,850 (GRCm39) M227L probably benign Het
Cntln A G 4: 84,952,075 (GRCm39) D639G probably damaging Het
Cts8 A G 13: 61,401,882 (GRCm39) V5A probably benign Het
Cxcl2 A T 5: 91,052,088 (GRCm39) T65S probably damaging Het
Cyp2c39 G T 19: 39,552,411 (GRCm39) R368L probably benign Het
D630023F18Rik A T 1: 65,147,939 (GRCm39) S205T probably benign Het
Dagla A T 19: 10,229,401 (GRCm39) probably null Het
Dtnbp1 G A 13: 45,084,615 (GRCm39) T175I probably benign Het
Dtx3 A G 10: 127,026,882 (GRCm39) L332P probably damaging Het
E2f4 A G 8: 106,024,451 (GRCm39) T27A probably damaging Het
Ep400 A G 5: 110,856,758 (GRCm39) F1163L unknown Het
Fam83h ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT 15: 75,874,624 (GRCm39) probably benign Het
Fbxo40 T C 16: 36,790,387 (GRCm39) D241G probably benign Het
Fus T C 7: 127,571,749 (GRCm39) S184P unknown Het
Gabarap C A 11: 69,883,498 (GRCm39) T87N possibly damaging Het
Gbp10 A C 5: 105,372,235 (GRCm39) V175G probably damaging Het
Heca A G 10: 17,778,011 (GRCm39) Y529H probably damaging Het
Incenp G A 19: 9,852,497 (GRCm39) R714* probably null Het
Lvrn C A 18: 46,983,632 (GRCm39) T125K possibly damaging Het
Ms4a6c T A 19: 11,455,660 (GRCm39) S156R probably benign Het
Nab2 C A 10: 127,502,266 (GRCm39) R21L possibly damaging Het
Neb A T 2: 52,136,827 (GRCm39) M3218K probably benign Het
Nwd2 A G 5: 63,962,663 (GRCm39) D749G probably benign Het
Nxpe5 A T 5: 138,228,804 (GRCm39) Q7L probably benign Het
Or10ak12 T A 4: 118,666,939 (GRCm39) T41S probably benign Het
Or4f62 A T 2: 111,986,598 (GRCm39) M101L probably benign Het
Or5p4 A T 7: 107,680,269 (GRCm39) E89D probably benign Het
Or8g26 A G 9: 39,095,689 (GRCm39) I72V possibly damaging Het
Pla2g5 A G 4: 138,531,917 (GRCm39) I29T probably damaging Het
Prpf31 C T 7: 3,643,917 (GRCm39) T499I probably damaging Het
Rnf130 T A 11: 49,986,623 (GRCm39) D322E probably benign Het
Ros1 T C 10: 51,964,014 (GRCm39) N1770D probably damaging Het
Sacs T A 14: 61,428,548 (GRCm39) D202E probably damaging Het
Simc1 A G 13: 54,674,359 (GRCm39) I902M probably damaging Het
Slc12a8 A T 16: 33,361,348 (GRCm39) M77L probably benign Het
Slc35f2 G A 9: 53,724,224 (GRCm39) G366D probably benign Het
Slc44a2 A G 9: 21,264,984 (GRCm39) D674G probably damaging Het
Smok2a A C 17: 13,445,791 (GRCm39) E456A probably benign Het
Stip1 T C 19: 7,011,618 (GRCm39) N139S probably benign Het
Taar8c C T 10: 23,977,015 (GRCm39) V266M probably benign Het
Tank T A 2: 61,474,758 (GRCm39) I204N possibly damaging Het
Tcerg1 A G 18: 42,694,020 (GRCm39) T714A probably benign Het
Tenm3 A T 8: 48,820,457 (GRCm39) F334I possibly damaging Het
Ubr1 T C 2: 120,693,202 (GRCm39) I1735V probably benign Het
Vps13a A T 19: 16,645,969 (GRCm39) S2023T possibly damaging Het
Wdfy4 T C 14: 32,696,218 (GRCm39) H2741R Het
Wnt10a G T 1: 74,842,376 (GRCm39) R284L 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
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
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'- GCCTGAATGACTCCCTCTTG -3'
(R):5'- CGATGACCCAGATTGGATTCC -3'

Sequencing Primer
(F):5'- CCCTCTTGAGGGTCTAAGGCTG -3'
(R):5'- TGACCCAGATTGGATTCCTCTAAAC -3'
Posted On 2020-07-28