Incidental Mutation 'R5756:Gcm2'
ID 445060
Institutional Source Beutler Lab
Gene Symbol Gcm2
Ensembl Gene ENSMUSG00000021362
Gene Name glial cells missing homolog 2
Synonyms Gcm1-rs2
MMRRC Submission 043359-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.735) question?
Stock # R5756 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 41254903-41264511 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 41263372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 20 (T20M)
Ref Sequence ENSEMBL: ENSMUSP00000021791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021791] [ENSMUST00000124093] [ENSMUST00000225271]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000021791
AA Change: T20M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021791
Gene: ENSMUSG00000021362
AA Change: T20M

DomainStartEndE-ValueType
Pfam:GCM 35 172 4.8e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124093
Predicted Effect possibly damaging
Transcript: ENSMUST00000225271
AA Change: T20M

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225420
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 100% (60/60)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579C12Rik A G 9: 89,010,919 (GRCm39) noncoding transcript Het
Aqp6 A T 15: 99,500,623 (GRCm39) I183F probably damaging Het
Asap1 A T 15: 64,039,556 (GRCm39) M218K probably damaging Het
Astn2 G A 4: 66,037,425 (GRCm39) probably benign Het
Bmp5 A G 9: 75,683,649 (GRCm39) D92G probably benign Het
Cables1 A G 18: 12,074,410 (GRCm39) D511G probably damaging Het
Cacna1e A G 1: 154,347,383 (GRCm39) M928T probably benign Het
Calcoco1 T C 15: 102,628,086 (GRCm39) N16S probably benign Het
Catspere2 A T 1: 177,943,793 (GRCm39) Q710L unknown Het
Coro7 C T 16: 4,450,148 (GRCm39) R567Q probably damaging Het
Dgki C T 6: 36,913,993 (GRCm39) probably benign Het
Dusp11 T C 6: 85,929,339 (GRCm39) I147V probably damaging Het
Eif2ak4 T C 2: 118,293,221 (GRCm39) I1259T possibly damaging Het
Elapor2 A C 5: 9,512,995 (GRCm39) K996N probably damaging Het
Etfdh T C 3: 79,521,063 (GRCm39) I219V probably benign Het
Ffar4 C T 19: 38,102,406 (GRCm39) T347I probably damaging Het
Fgf3 G A 7: 144,396,688 (GRCm39) S234N probably benign Het
Fnta A T 8: 26,499,735 (GRCm39) I155N possibly damaging Het
Ggt5 A T 10: 75,440,607 (GRCm39) M243L probably benign Het
Ggta1 T C 2: 35,292,395 (GRCm39) Y304C probably damaging Het
Gm5454 A G 13: 103,492,855 (GRCm39) noncoding transcript Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Hrc T C 7: 44,986,130 (GRCm39) V427A possibly damaging Het
Ibtk C G 9: 85,613,307 (GRCm39) V219L possibly damaging Het
Ift140 A G 17: 25,247,787 (GRCm39) H215R possibly damaging Het
Itln1 A G 1: 171,344,485 (GRCm39) probably benign Het
Kif13b T C 14: 64,973,754 (GRCm39) I368T probably damaging Het
Lars2 T C 9: 123,267,264 (GRCm39) Y529H probably damaging Het
Lrrc55 G A 2: 85,026,727 (GRCm39) T99I probably benign Het
Mycbp2 A T 14: 103,371,410 (GRCm39) I4156N probably damaging Het
Myo1c T G 11: 75,549,240 (GRCm39) M137R probably benign Het
Or51i1 T C 7: 103,670,889 (GRCm39) D212G probably damaging Het
Or6c8b A G 10: 128,882,095 (GRCm39) V279A probably benign Het
Or8b54 T A 9: 38,686,554 (GRCm39) M1K probably null Het
Pde7a A G 3: 19,319,009 (GRCm39) V12A probably benign Het
Phyhip T G 14: 70,704,532 (GRCm39) C250W probably damaging Het
Pisd G A 5: 32,895,842 (GRCm39) T412I probably damaging Het
Polr3c T C 3: 96,621,450 (GRCm39) N444S probably damaging Het
Sart1 T C 19: 5,430,497 (GRCm39) E750G probably damaging Het
Sh3rf3 T C 10: 58,940,204 (GRCm39) V675A probably damaging Het
Slc4a11 G T 2: 130,529,783 (GRCm39) D307E probably benign Het
Slc6a16 A T 7: 44,910,274 (GRCm39) I315F possibly damaging Het
Smarca5 A C 8: 81,437,233 (GRCm39) S708A probably benign Het
Sv2c T C 13: 96,122,475 (GRCm39) I434V probably benign Het
Tars3 A G 7: 65,325,724 (GRCm39) K433E probably benign Het
Tbx15 A T 3: 99,220,402 (GRCm39) I165F probably damaging Het
Tep1 C T 14: 51,074,836 (GRCm39) probably null Het
Tex15 G A 8: 34,065,861 (GRCm39) G1764S probably benign Het
Tnfrsf19 A G 14: 61,262,224 (GRCm39) L13P probably benign Het
Tnnt3 G A 7: 142,056,495 (GRCm39) probably null Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Usp24 T A 4: 106,219,680 (GRCm39) I597K probably damaging Het
Usp40 C T 1: 87,879,413 (GRCm39) R960Q possibly damaging Het
Vps53 A T 11: 75,983,156 (GRCm39) probably benign Het
Xylt1 C T 7: 117,249,927 (GRCm39) T699I probably damaging Het
Zfp81 A C 17: 33,553,307 (GRCm39) Y502* probably null Het
Zfyve26 T A 12: 79,311,131 (GRCm39) H145L 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
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'- AGAGTCTAACTTCCCTACATATCCG -3'
(R):5'- TTCAGCACCTCAGCCAATG -3'

Sequencing Primer
(F):5'- ACTTCCCTACATATCCGAAGATGTG -3'
(R):5'- ACTGTCTGAATCCCTCCATATCTG -3'
Posted On 2016-11-21