Incidental Mutation 'PIT4403001:Gcm2'
ID 555493
Institutional Source Beutler Lab
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 # PIT4403001 (G1)
Quality Score 154.008
Status Not validated
Chromosome 13
Chromosomal Location 41254903-41264511 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41256315 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 478 (V478A)
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: V478A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000021791
Gene: ENSMUSG00000021362
AA Change: V478A

DomainStartEndE-ValueType
Pfam:GCM 35 172 4.8e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000225271
Coding Region Coverage
  • 1x: 92.7%
  • 3x: 90.5%
  • 10x: 84.9%
  • 20x: 73.1%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh4 T C 3: 138,129,939 (GRCm39) V255A probably damaging Het
Ahnak T C 19: 8,983,540 (GRCm39) I1608T possibly damaging Het
Atm A T 9: 53,412,282 (GRCm39) D955E probably benign Het
Cacybp A G 1: 160,033,764 (GRCm39) S113P probably damaging Het
Cenpu C T 8: 47,015,564 (GRCm39) P160S possibly damaging Het
Clstn3 C T 6: 124,434,982 (GRCm39) G348D probably damaging Het
Cmtr1 T G 17: 29,917,047 (GRCm39) probably null Het
Dlgap2 T C 8: 14,881,528 (GRCm39) S867P probably damaging Het
Fbn1 A T 2: 125,184,831 (GRCm39) C1654S probably damaging Het
Fbxl3 G A 14: 103,332,900 (GRCm39) T26M possibly damaging Het
Garnl3 A T 2: 32,880,770 (GRCm39) L874Q probably damaging Het
Gm1527 T C 3: 28,972,134 (GRCm39) I417T possibly damaging Het
Grip1 A G 10: 119,765,833 (GRCm39) E55G probably damaging Het
Ighv1-4 A G 12: 114,450,824 (GRCm39) S95P probably damaging Het
Jak3 C T 8: 72,136,993 (GRCm39) T723I probably benign Het
Jup A G 11: 100,268,913 (GRCm39) probably null Het
Kcng3 A G 17: 83,895,611 (GRCm39) L285S probably damaging Het
Kmt2b G A 7: 30,285,114 (GRCm39) P593S probably damaging Het
Matcap1 T C 8: 106,011,376 (GRCm39) N253D probably benign Het
Mstn T C 1: 53,100,944 (GRCm39) M7T probably benign Het
Myh2 A T 11: 67,077,533 (GRCm39) K889N probably benign Het
Myo5a A G 9: 75,124,805 (GRCm39) T1787A probably damaging Het
Nlrp14 A T 7: 106,784,099 (GRCm39) Q607L possibly damaging Het
Ntf3 C T 6: 126,078,789 (GRCm39) R239Q probably damaging Het
Nup85 G T 11: 115,472,646 (GRCm39) R492L probably damaging Het
Ogfod3 A C 11: 121,087,561 (GRCm39) probably null Het
Or1j18 T A 2: 36,624,930 (GRCm39) I199K probably damaging Het
Or4c115 T A 2: 88,927,420 (GRCm39) M284L probably benign Het
Or4k40 A T 2: 111,251,165 (GRCm39) F44I probably benign Het
Or52h2 A G 7: 103,838,667 (GRCm39) V249A probably benign Het
Or8d1 T C 9: 38,766,676 (GRCm39) I106T probably benign Het
Oxct2a A T 4: 123,216,237 (GRCm39) D381E probably damaging Het
Pcdh20 G C 14: 88,704,462 (GRCm39) P946R probably damaging Het
Pdgfc C T 3: 81,082,268 (GRCm39) P154S probably damaging Het
Phkg1 T C 5: 129,894,772 (GRCm39) T260A probably benign Het
Pld4 T G 12: 112,734,256 (GRCm39) L374R probably damaging Het
Plekhj1 C T 10: 80,632,293 (GRCm39) D150N unknown Het
Plppr1 T G 4: 49,337,648 (GRCm39) N316K probably benign Het
Pola2 A C 19: 6,009,074 (GRCm39) S95A possibly damaging Het
Polq G A 16: 36,880,949 (GRCm39) D1038N probably benign Het
Prim1 A T 10: 127,858,745 (GRCm39) I218L probably benign Het
Prkcz A G 4: 155,377,613 (GRCm39) probably null Het
Ptgr1 T C 4: 58,968,794 (GRCm39) K282E probably benign Het
Rbm5 A G 9: 107,637,535 (GRCm39) M132T probably damaging Het
Scn2a C T 2: 65,542,252 (GRCm39) T785M probably damaging Het
Setx A G 2: 29,023,967 (GRCm39) E141G probably damaging Het
Slc24a2 A G 4: 86,950,523 (GRCm39) F425L probably benign Het
Smarcc2 A T 10: 128,298,893 (GRCm39) H92L probably damaging Het
Tatdn1 C G 15: 58,777,596 (GRCm39) E220Q probably damaging Het
Tmc7 C A 7: 118,146,623 (GRCm39) Q488H probably benign Het
Tmc7 T G 7: 118,146,624 (GRCm39) Q488P possibly damaging Het
Tmem45b C T 9: 31,338,188 (GRCm39) D264N probably benign Het
Tmtc4 A C 14: 123,210,641 (GRCm39) S72R probably benign Het
Tnc C A 4: 63,882,904 (GRCm39) D1906Y probably damaging Het
Ubac1 A T 2: 25,896,609 (GRCm39) M302K probably benign Het
Ubox5 A G 2: 130,442,597 (GRCm39) I30T probably damaging Het
Vwce A G 19: 10,615,461 (GRCm39) N114S possibly damaging Het
Xpo5 T A 17: 46,550,495 (GRCm39) D992E probably benign Het
Zfhx2 G A 14: 55,312,437 (GRCm39) P86S probably benign Het
Zfp335 T C 2: 164,735,636 (GRCm39) H1106R possibly damaging Het
Zfp653 T A 9: 21,977,053 (GRCm39) Q166L probably damaging Het
Zp3r T A 1: 130,510,609 (GRCm39) N436I 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
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
Predicted Primers PCR Primer
(F):5'- AAGTTCCAGCAGCTGTCATTC -3'
(R):5'- TATGCCTCGGAAAACCTCCC -3'

Sequencing Primer
(F):5'- AACTTATAATTTCCCAGCATGCC -3'
(R):5'- TCGGAAAACCTCCCAATGC -3'
Posted On 2019-06-07