Incidental Mutation 'R7456:Gcm2'
ID 578153
Institutional Source Beutler Lab
Gene Symbol Gcm2
Ensembl Gene ENSMUSG00000021362
Gene Name glial cells missing homolog 2
Synonyms Gcm1-rs2
MMRRC Submission 045530-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.735) question?
Stock # R7456 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 41254903-41264511 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 41256751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 333 (W333R)
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: W333R

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000021791
Gene: ENSMUSG00000021362
AA Change: W333R

DomainStartEndE-ValueType
Pfam:GCM 35 172 4.8e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000225271
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer2 A G 4: 86,792,748 (GRCm39) D8G possibly damaging Het
Angpt4 T C 2: 151,780,987 (GRCm39) Y412H probably damaging Het
Ankef1 A G 2: 136,387,734 (GRCm39) D217G probably benign Het
Ano2 A T 6: 125,940,508 (GRCm39) I544F probably benign Het
App G A 16: 84,970,448 (GRCm39) Het
Arhgef26 A G 3: 62,247,476 (GRCm39) T187A probably benign Het
Axin1 T A 17: 26,362,139 (GRCm39) V161E probably damaging Het
Bbs7 A T 3: 36,648,527 (GRCm39) V407D probably damaging Het
C1qtnf3 A T 15: 10,972,137 (GRCm39) E141V probably benign Het
C2 A G 17: 35,083,558 (GRCm39) I469T probably damaging Het
Cc2d1a A G 8: 84,866,868 (GRCm39) probably null Het
Cd226 A T 18: 89,224,747 (GRCm39) I10F probably damaging Het
Cep295nl T C 11: 118,224,376 (GRCm39) K156R possibly damaging Het
Cfap20dc A T 14: 8,442,933 (GRCm38) L612* probably null Het
Cfap44 A G 16: 44,252,305 (GRCm39) T805A probably benign Het
Chd9 G T 8: 91,659,153 (GRCm39) E38* probably null Het
Cldnd2 C T 7: 43,091,109 (GRCm39) L14F not run Het
Cyp11b2 T C 15: 74,725,379 (GRCm39) T247A probably benign Het
Dennd11 T G 6: 40,383,774 (GRCm39) M423L probably benign Het
Dsc1 T C 18: 20,219,879 (GRCm39) S764G probably benign Het
Dsg3 A T 18: 20,664,420 (GRCm39) T473S probably benign Het
Fam193a A T 5: 34,578,132 (GRCm39) I209F possibly damaging Het
Foxs1 T C 2: 152,775,045 (GRCm39) K3E probably benign Het
Gabrr3 C T 16: 59,227,853 (GRCm39) Q37* probably null Het
Gcn1 C T 5: 115,743,005 (GRCm39) Q1559* probably null Het
Gfm2 A T 13: 97,282,211 (GRCm39) K69* probably null Het
Gm14295 T G 2: 176,500,943 (GRCm39) C144W possibly damaging Het
Gm32742 G A 9: 51,071,270 (GRCm39) T5I probably damaging Het
Gm5093 T C 17: 46,750,679 (GRCm39) D116G probably damaging Het
Gsn A T 2: 35,172,718 (GRCm39) K3N possibly damaging Het
H2-M2 C T 17: 37,792,552 (GRCm39) D240N possibly damaging Het
Habp2 G C 19: 56,307,957 (GRCm39) G482R probably damaging Het
Hnrnpm A T 17: 33,865,622 (GRCm39) Y680N possibly damaging Het
Hrc T A 7: 44,986,320 (GRCm39) D490E possibly damaging Het
Impg2 A G 16: 56,080,276 (GRCm39) I693M probably benign Het
Itga7 A G 10: 128,777,805 (GRCm39) Y262C probably damaging Het
Kif1c A G 11: 70,619,424 (GRCm39) T1020A probably benign Het
Kif23 T C 9: 61,844,402 (GRCm39) I139V probably benign Het
Klk1b5 A G 7: 43,500,255 (GRCm39) E281G probably benign Het
Kpna4 A G 3: 69,000,181 (GRCm39) V275A probably damaging Het
Lamb2 C A 9: 108,362,979 (GRCm39) D787E possibly damaging Het
Ldlrad3 A C 2: 101,785,270 (GRCm39) V235G probably damaging Het
Maneal A G 4: 124,750,767 (GRCm39) S330P probably damaging Het
Maz G A 7: 126,625,489 (GRCm39) Q35* probably null Het
Mthfd1l C T 10: 4,039,998 (GRCm39) T803M probably damaging Het
Muc5ac A G 7: 141,346,904 (GRCm39) Q325R probably benign Het
Myo3a C A 2: 22,412,255 (GRCm39) A758E probably benign Het
Ndufb7 A G 8: 84,293,482 (GRCm39) D12G probably benign Het
Nsun2 T A 13: 69,781,725 (GRCm39) C677S probably damaging Het
Obscn A G 11: 58,899,384 (GRCm39) F6471S probably benign Het
Or4c106 A T 2: 88,682,563 (GRCm39) I90F probably damaging Het
Or51k1 A G 7: 103,661,045 (GRCm39) V288A possibly damaging Het
Or7g32 T C 9: 19,408,844 (GRCm39) S267P probably damaging Het
Otof T C 5: 30,552,005 (GRCm39) D313G probably damaging Het
Paqr5 T C 9: 61,880,072 (GRCm39) D74G probably benign Het
Pigq A G 17: 26,153,580 (GRCm39) V365A unknown Het
Podn A T 4: 107,875,002 (GRCm39) N588K probably benign Het
Polr3b G A 10: 84,458,355 (GRCm39) G9R probably benign Het
Proser1 A G 3: 53,385,939 (GRCm39) H607R probably damaging Het
Ryr2 C T 13: 11,767,168 (GRCm39) V1241I probably benign Het
Sar1b G A 11: 51,682,181 (GRCm39) A170T probably benign Het
Slc22a17 T C 14: 55,149,716 (GRCm39) T191A probably benign Het
Slc35f3 CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC 8: 127,115,779 (GRCm39) unknown Het
Slco6d1 A T 1: 98,349,082 (GRCm39) D51V possibly damaging Het
Snx16 G A 3: 10,500,541 (GRCm39) R143* probably null Het
Sytl2 T A 7: 89,998,055 (GRCm39) L19Q probably damaging Het
Tmcc3 A G 10: 94,418,174 (GRCm39) E345G possibly damaging Het
Ttn C T 2: 76,555,998 (GRCm39) A30336T probably damaging Het
Vmn1r44 A G 6: 89,870,401 (GRCm39) D49G probably benign Het
Vps35l C T 7: 118,403,340 (GRCm39) P628S probably benign Het
Vps41 T A 13: 19,048,204 (GRCm39) D801E probably benign Het
Wif1 G A 10: 120,932,554 (GRCm39) E311K probably benign Het
Zfp513 G T 5: 31,357,759 (GRCm39) R207S possibly damaging Het
Zfp52 C A 17: 21,781,615 (GRCm39) H488N probably damaging Het
Zfp738 A G 13: 67,817,619 (GRCm39) Y791H 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
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'- TCACCGTGTTTCAGAGCAGG -3'
(R):5'- AAGCATTTATTTCCCCGGGCC -3'

Sequencing Primer
(F):5'- TGGTAGGCCTGGTAAGCCAC -3'
(R):5'- CCACCTTGGGGCTATGAGTTG -3'
Posted On 2019-10-07