Incidental Mutation 'IGL02186:Gcm2'
ID 283643
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gcm2
Ensembl Gene ENSMUSG00000021362
Gene Name glial cells missing homolog 2
Synonyms Gcm1-rs2
Accession Numbers
Essential gene? Possibly essential (E-score: 0.735) question?
Stock # IGL02186
Quality Score
Status
Chromosome 13
Chromosomal Location 41254903-41264511 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 41258125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 168 (T168S)
Ref Sequence ENSEMBL: ENSMUSP00000153244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021791] [ENSMUST00000225271]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000021791
AA Change: T168S

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021791
Gene: ENSMUSG00000021362
AA Change: T168S

DomainStartEndE-ValueType
Pfam:GCM 35 172 4.8e-74 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000225271
AA Change: T168S

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225420
Coding Region Coverage
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130230L23Rik A G 5: 66,145,811 (GRCm39) F100S unknown Het
Abca3 A G 17: 24,596,714 (GRCm39) Y389C possibly damaging Het
Acrbp G T 6: 125,031,773 (GRCm39) probably null Het
Adam21 G A 12: 81,605,983 (GRCm39) T593I possibly damaging Het
Adipor1 T A 1: 134,353,698 (GRCm39) M161K probably benign Het
Agrp A T 8: 106,293,821 (GRCm39) N48K probably benign Het
Asprv1 A T 6: 86,605,900 (GRCm39) M249L probably damaging Het
Begain A G 12: 108,999,278 (GRCm39) Y703H probably damaging Het
Bspry T A 4: 62,414,226 (GRCm39) probably benign Het
Cct8l1 T G 5: 25,721,836 (GRCm39) S184A probably benign Het
Cdk13 C T 13: 17,947,112 (GRCm39) V549I probably benign Het
Cdyl2 C T 8: 117,306,025 (GRCm39) R412Q possibly damaging Het
Celf6 T C 9: 59,510,808 (GRCm39) S205P probably damaging Het
Cltc G A 11: 86,595,811 (GRCm39) A1263V possibly damaging Het
Cltc C A 11: 86,595,812 (GRCm39) A1263S possibly damaging Het
Ctnnd2 T A 15: 30,480,939 (GRCm39) F62L probably damaging Het
Dlec1 T A 9: 118,972,695 (GRCm39) C1473S probably benign Het
Dmbt1 T A 7: 130,694,986 (GRCm39) probably benign Het
Dnase1 G A 16: 3,856,896 (GRCm39) V176I probably benign Het
Dusp1 G T 17: 26,726,032 (GRCm39) Y220* probably null Het
Enpp3 A C 10: 24,667,881 (GRCm39) probably benign Het
Exosc10 T C 4: 148,649,755 (GRCm39) L395P probably damaging Het
Fn1 T C 1: 71,677,693 (GRCm39) K533R probably damaging Het
Gm9924 C A 5: 31,252,491 (GRCm39) probably benign Het
Ifrd1 A G 12: 40,264,092 (GRCm39) V101A probably benign Het
Iqsec1 G T 6: 90,653,859 (GRCm39) Q629K probably damaging Het
Kcnma1 T A 14: 23,576,881 (GRCm39) M254L probably benign Het
Krit1 T C 5: 3,859,733 (GRCm39) probably benign Het
Letm1 T C 5: 33,902,391 (GRCm39) K633E probably benign Het
Mfsd1 A G 3: 67,503,928 (GRCm39) I307V probably benign Het
Mtrr T C 13: 68,712,476 (GRCm39) T637A probably benign Het
Naxe C A 3: 87,964,305 (GRCm39) D212Y probably damaging Het
Nlk A T 11: 78,477,762 (GRCm39) V327D probably damaging Het
Or2f1b A G 6: 42,739,880 (GRCm39) K298R probably null Het
Or5w11 A T 2: 87,459,715 (GRCm39) I187F probably benign Het
Pdzd8 C T 19: 59,289,060 (GRCm39) G780D probably damaging Het
Prune1 T C 3: 95,166,548 (GRCm39) probably benign Het
Qser1 A T 2: 104,618,606 (GRCm39) H645Q probably damaging Het
Rd3l A G 12: 111,945,901 (GRCm39) Y193H probably benign Het
Reln A G 5: 22,114,956 (GRCm39) Y3119H probably damaging Het
Scel C T 14: 103,802,257 (GRCm39) A219V probably benign Het
Skint11 A T 4: 114,101,833 (GRCm39) Q91L possibly damaging Het
Slc39a10 G A 1: 46,857,288 (GRCm39) A696V probably damaging Het
Slc5a5 C A 8: 71,338,764 (GRCm39) D516Y possibly damaging Het
Slc8b1 G A 5: 120,665,928 (GRCm39) probably null Het
Slc9a3 A G 13: 74,311,233 (GRCm39) E576G possibly damaging Het
Slco1b2 A T 6: 141,580,271 (GRCm39) probably benign Het
Smc5 A G 19: 23,209,223 (GRCm39) V647A probably damaging Het
Snph T C 2: 151,436,263 (GRCm39) N222D possibly damaging Het
Srbd1 A G 17: 86,416,659 (GRCm39) F500L probably benign Het
Stxbp6 T C 12: 44,948,806 (GRCm39) D101G probably damaging Het
Taar7b A G 10: 23,875,879 (GRCm39) I15V probably benign Het
Tdrd12 G T 7: 35,200,826 (GRCm39) N338K probably damaging Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Tmem219 A T 7: 126,495,988 (GRCm39) D128E probably benign Het
Togaram2 A G 17: 71,992,166 (GRCm39) T3A possibly damaging Het
Ttn C T 2: 76,724,627 (GRCm39) probably benign Het
Uchl1 C A 5: 66,834,382 (GRCm39) C47* probably null Het
Unc79 T G 12: 102,977,542 (GRCm39) S182A probably benign Het
Vmn2r1 A G 3: 63,989,138 (GRCm39) T26A probably benign Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Vps54 T C 11: 21,256,947 (GRCm39) V685A probably damaging Het
Zcchc7 T G 4: 44,762,250 (GRCm39) V126G possibly damaging Het
Zmym2 A G 14: 57,180,808 (GRCm39) T907A probably benign 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
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
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
Posted On 2015-04-16