Incidental Mutation 'R2059:Gcm2'
ID 228507
Institutional Source Beutler Lab
Gene Symbol Gcm2
Ensembl Gene ENSMUSG00000021362
Gene Name glial cells missing homolog 2
Synonyms Gcm1-rs2
MMRRC Submission 040064-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.735) question?
Stock # R2059 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 41254903-41264511 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to C at 41263430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000153244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021791] [ENSMUST00000124093] [ENSMUST00000225271]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000021791
AA Change: M1V

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000021791
Gene: ENSMUSG00000021362
AA Change: M1V

DomainStartEndE-ValueType
Pfam:GCM 35 172 4.8e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124093
Predicted Effect probably null
Transcript: ENSMUST00000225271
AA Change: M1V

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225420
Meta Mutation Damage Score 0.8121 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 99% (99/100)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf3 G A 5: 30,404,489 (GRCm39) H316Y possibly damaging Het
Adgrf5 A G 17: 43,739,477 (GRCm39) Y72C possibly damaging Het
Ak5 T A 3: 152,366,274 (GRCm39) L42F probably damaging Het
Alas1 T C 9: 106,118,489 (GRCm39) E211G probably damaging Het
Alkbh1 C T 12: 87,490,520 (GRCm39) probably benign Het
Als2cl T C 9: 110,714,506 (GRCm39) V118A probably benign Het
Ano1 G C 7: 144,165,127 (GRCm39) L641V probably damaging Het
Arfgef1 C T 1: 10,258,977 (GRCm39) probably null Het
Atf6b A T 17: 34,867,549 (GRCm39) probably null Het
Atf7ip T G 6: 136,586,346 (GRCm39) probably benign Het
Atp2b4 G T 1: 133,654,275 (GRCm39) Q777K probably benign Het
Baz2a T A 10: 127,949,447 (GRCm39) S347R probably damaging Het
C2cd3 T C 7: 100,104,700 (GRCm39) probably benign Het
Cage1 A G 13: 38,207,356 (GRCm39) V163A probably benign Het
Cdh12 T A 15: 21,583,826 (GRCm39) N555K probably benign Het
Cenpj G A 14: 56,801,412 (GRCm39) P187L possibly damaging Het
Cep112 T A 11: 108,410,087 (GRCm39) probably null Het
Cfap54 A T 10: 92,778,841 (GRCm39) probably benign Het
Cgref1 T G 5: 31,090,989 (GRCm39) D275A possibly damaging Het
Clgn A C 8: 84,126,607 (GRCm39) N103H probably benign Het
Corin A G 5: 72,473,394 (GRCm39) V905A possibly damaging Het
Csta1 A C 16: 35,942,692 (GRCm39) D72E probably benign Het
Cul5 A T 9: 53,578,456 (GRCm39) L44Q probably damaging Het
Dmbt1 G A 7: 130,707,900 (GRCm39) A1381T possibly damaging Het
Dync1i2 G A 2: 71,080,197 (GRCm39) probably null Het
Enoph1 A G 5: 100,207,078 (GRCm39) D55G probably damaging Het
Fat4 T A 3: 38,945,319 (GRCm39) M1404K possibly damaging Het
Fhip2b A G 14: 70,822,489 (GRCm39) V744A possibly damaging Het
Foxi2 G T 7: 135,012,406 (GRCm39) G98V probably damaging Het
Galr2 T C 11: 116,173,765 (GRCm39) S132P probably damaging Het
Gm15446 C T 5: 110,090,362 (GRCm39) H205Y probably damaging Het
Gm21775 T A Y: 10,553,910 (GRCm39) I153N probably benign Het
Grip1 A G 10: 119,874,603 (GRCm39) K789R possibly damaging Het
Gsk3b T A 16: 38,008,271 (GRCm39) D192E probably benign Het
Herc2 T A 7: 55,813,645 (GRCm39) H2625Q probably damaging Het
Hoxc9 A G 15: 102,892,555 (GRCm39) D256G probably benign Het
Il7 A T 3: 7,638,975 (GRCm39) N130K probably damaging Het
Irf2 A T 8: 47,260,380 (GRCm39) N104I probably damaging Het
Kat6a A G 8: 23,429,321 (GRCm39) N1559D possibly damaging Het
Kcnq4 G T 4: 120,555,199 (GRCm39) F661L probably benign Het
Kdm5b T A 1: 134,540,952 (GRCm39) D681E probably benign Het
Khdrbs1 T C 4: 129,619,514 (GRCm39) E209G probably damaging Het
Lama3 A T 18: 12,661,390 (GRCm39) R2116S probably damaging Het
Mir124-2hg C A 3: 17,839,877 (GRCm39) E65* probably null Het
Mphosph10 T A 7: 64,026,499 (GRCm39) L650F probably damaging Het
Mrpl48 T C 7: 100,198,540 (GRCm39) E204G probably damaging Het
Msl3l2 T A 10: 55,992,040 (GRCm39) L255Q probably damaging Het
Mx1 T A 16: 97,255,379 (GRCm39) K225* probably null Het
Nf1 T C 11: 79,447,549 (GRCm39) V435A probably damaging Het
Nid1 A C 13: 13,675,058 (GRCm39) H926P probably benign Het
Nlrp9a T A 7: 26,256,787 (GRCm39) I46K possibly damaging Het
Nop2 T A 6: 125,116,823 (GRCm39) M359K probably null Het
Nox1 T C X: 132,995,993 (GRCm39) probably benign Het
Ogdhl G A 14: 32,054,841 (GRCm39) R263K probably damaging Het
Or14c40 A T 7: 86,313,591 (GRCm39) K240N probably damaging Het
Or2y16 T A 11: 49,335,278 (GRCm39) V200E probably damaging Het
Pbsn T C X: 76,891,582 (GRCm39) K72E probably damaging Het
Pde12 T C 14: 26,390,035 (GRCm39) I225V probably benign Het
Ppt2 A T 17: 34,841,818 (GRCm39) probably benign Het
Prl3a1 A G 13: 27,454,127 (GRCm39) D35G probably benign Het
Prss3b G A 6: 41,009,315 (GRCm39) T173I probably benign Het
Ptprk T A 10: 28,442,599 (GRCm39) I893N probably damaging Het
Ptprz1 T C 6: 22,986,322 (GRCm39) probably benign Het
Rab3c A G 13: 110,397,050 (GRCm39) V72A probably damaging Het
Rbms2 A G 10: 127,973,387 (GRCm39) S251P probably benign Het
Rfwd3 A G 8: 112,024,127 (GRCm39) V65A probably benign Het
Rps6kl1 T A 12: 85,186,397 (GRCm39) Y211F probably benign Het
Saal1 T C 7: 46,348,880 (GRCm39) Q317R probably damaging Het
Scg3 T C 9: 75,572,998 (GRCm39) D311G probably damaging Het
Sdk2 C A 11: 113,745,158 (GRCm39) M712I probably damaging Het
Serinc2 T G 4: 130,154,578 (GRCm39) Y158S probably damaging Het
Serpinb9c A T 13: 33,340,854 (GRCm39) C81* probably null Het
Sgpp2 T A 1: 78,393,588 (GRCm39) L197Q probably damaging Het
Shroom3 A T 5: 92,831,643 (GRCm39) T40S probably damaging Het
Sik1 A G 17: 32,067,771 (GRCm39) S435P probably benign Het
Slc7a3 A G X: 100,124,373 (GRCm39) V464A probably benign Het
Snd1 T C 6: 28,745,206 (GRCm39) F517S probably damaging Het
Spata13 A C 14: 60,997,040 (GRCm39) I1165L possibly damaging Het
St8sia5 A T 18: 77,342,459 (GRCm39) I390F probably damaging Het
Stat5b A T 11: 100,678,158 (GRCm39) S652T probably benign Het
Stom A G 2: 35,206,037 (GRCm39) S231P probably damaging Het
Sult1b1 A G 5: 87,682,892 (GRCm39) Y18H probably damaging Het
Tgm4 T C 9: 122,890,835 (GRCm39) I54T probably damaging Het
Tmem176b G A 6: 48,813,267 (GRCm39) T64I probably damaging Het
Tmem87a A T 2: 120,199,773 (GRCm39) I457N probably damaging Het
Trim12c A G 7: 103,997,398 (GRCm39) F53L possibly damaging Het
Ttc6 T A 12: 57,784,479 (GRCm39) D1849E probably benign Het
Ubap2l A T 3: 89,938,683 (GRCm39) probably benign Het
Ush2a T G 1: 188,113,746 (GRCm39) probably null Het
Usp17la A C 7: 104,510,378 (GRCm39) T328P probably damaging Het
Ust A G 10: 8,083,330 (GRCm39) Y349H probably damaging Het
V1rd19 A T 7: 23,703,259 (GRCm39) M242L probably benign Het
Vmn1r33 T A 6: 66,589,186 (GRCm39) M123L probably benign Het
Vps13c A T 9: 67,768,115 (GRCm39) K111N probably damaging Het
Vwa3a A G 7: 120,358,172 (GRCm39) D81G probably damaging Het
Zfp318 G A 17: 46,707,950 (GRCm39) R336Q probably damaging Het
Zfp609 A G 9: 65,611,716 (GRCm39) S416P 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
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
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'- GCTGACTACTTGGGAACATGTC -3'
(R):5'- TTACTGTCTGAATCCCTCCATATCTG -3'

Sequencing Primer
(F):5'- ACTTCCCTACATATCCGAAGATGTG -3'
(R):5'- GTGTGTATATCTGCCTCTCTCTG -3'
Posted On 2014-09-17