Incidental Mutation 'IGL03142:Gcm2'
ID410728
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gcm2
Ensembl Gene ENSMUSG00000021362
Gene Nameglial cells missing homolog 2
SynonymsGcm1-rs2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.407) question?
Stock #IGL03142
Quality Score
Status
Chromosome13
Chromosomal Location41101427-41111035 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 41103235 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 346 (V346A)
Ref Sequence ENSEMBL: ENSMUSP00000021791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021791] [ENSMUST00000225271]
Predicted Effect probably benign
Transcript: ENSMUST00000021791
AA Change: V346A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000021791
Gene: ENSMUSG00000021362
AA Change: V346A

DomainStartEndE-ValueType
Pfam:GCM 35 172 4.8e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000225271
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc88c T C 12: 100,947,198 S523G probably damaging Het
Ccnb1 A T 13: 100,783,531 D157E probably damaging Het
Cfap70 T C 14: 20,397,215 T1055A probably damaging Het
Fgfr1op T A 17: 8,192,209 S331R probably damaging Het
Fn1 C A 1: 71,637,296 R592L probably damaging Het
Frmpd4 T A X: 167,479,483 D550V possibly damaging Het
Gm10112 C T X: 111,168,350 T4I probably damaging Het
Gm3115 T C 14: 4,084,302 probably benign Het
Has2 A T 15: 56,682,095 I37N possibly damaging Het
Hmgn3 A G 9: 83,146,429 probably benign Het
Klhl29 T A 12: 5,137,603 N254Y probably damaging Het
Kti12 A G 4: 108,848,165 Y92C probably damaging Het
Mgat5 A C 1: 127,412,223 Q447P probably damaging Het
Mlh3 C A 12: 85,250,301 probably null Het
Mrpl45 T C 11: 97,315,925 W18R probably benign Het
Mtor A G 4: 148,453,899 D138G probably benign Het
Mycbp2 C T 14: 103,298,776 C246Y probably damaging Het
Mylk4 A T 13: 32,720,599 V415E probably damaging Het
Olfm3 A T 3: 115,097,030 Q124L probably damaging Het
Olfr1423 A T 19: 12,036,388 M118K probably damaging Het
Pam C T 1: 97,894,386 G298R probably damaging Het
Pappa2 A C 1: 158,854,931 I849R probably damaging Het
Pde3a T A 6: 141,492,299 D1031E probably benign Het
Pik3cb A T 9: 99,065,562 S521T probably benign Het
Pkn1 A G 8: 83,671,023 F824L possibly damaging Het
Pspn C T 17: 56,999,566 R121Q probably benign Het
Ric1 A G 19: 29,600,980 D1195G possibly damaging Het
Sin3b A G 8: 72,744,568 D381G probably damaging Het
Slc37a3 T C 6: 39,359,985 probably null Het
Smtn T A 11: 3,532,601 K124* probably null Het
Tbce A G 13: 14,019,864 V70A possibly damaging Het
Tmem251 G A 12: 102,744,674 S52N probably damaging Het
Tti1 A G 2: 158,000,677 Y811H probably damaging Het
Uggt2 T C 14: 118,998,191 Y1424C probably damaging Het
Upf1 A G 8: 70,333,327 V994A probably benign Het
Vmn2r121 T C X: 124,132,938 D174G possibly damaging Het
Other mutations in Gcm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01312:Gcm2 APN 13 41103131 missense probably damaging 1.00
IGL01476:Gcm2 APN 13 41105741 missense probably damaging 1.00
IGL02034:Gcm2 APN 13 41105793 missense probably damaging 1.00
IGL02186:Gcm2 APN 13 41104649 missense possibly damaging 0.93
IGL02456:Gcm2 APN 13 41103001 missense probably benign 0.01
IGL03184:Gcm2 APN 13 41105412 missense probably damaging 1.00
PIT4403001:Gcm2 UTSW 13 41102839 missense probably benign 0.01
R0227:Gcm2 UTSW 13 41105856 missense probably damaging 0.99
R1061:Gcm2 UTSW 13 41105871 missense probably damaging 1.00
R1813:Gcm2 UTSW 13 41105891 missense probably benign 0.19
R2057:Gcm2 UTSW 13 41109954 start codon destroyed probably null 0.28
R2058:Gcm2 UTSW 13 41109954 start codon destroyed probably null 0.28
R2059:Gcm2 UTSW 13 41109954 start codon destroyed probably null 0.28
R2351:Gcm2 UTSW 13 41103618 missense probably benign 0.02
R4653:Gcm2 UTSW 13 41102841 missense probably benign 0.21
R4782:Gcm2 UTSW 13 41103494 missense possibly damaging 0.66
R4799:Gcm2 UTSW 13 41103494 missense possibly damaging 0.66
R5135:Gcm2 UTSW 13 41102959 missense probably benign
R5162:Gcm2 UTSW 13 41103655 missense probably benign 0.01
R5665:Gcm2 UTSW 13 41109911 missense possibly damaging 0.73
R5756:Gcm2 UTSW 13 41109896 missense probably damaging 1.00
R5771:Gcm2 UTSW 13 41103515 missense probably benign 0.40
R5928:Gcm2 UTSW 13 41103398 missense probably benign 0.00
R5977:Gcm2 UTSW 13 41103127 missense probably damaging 0.99
R6394:Gcm2 UTSW 13 41109897 missense probably damaging 1.00
R6578:Gcm2 UTSW 13 41105678 missense probably damaging 1.00
R6798:Gcm2 UTSW 13 41105885 missense probably damaging 1.00
R7088:Gcm2 UTSW 13 41103364 missense probably damaging 0.98
R7413:Gcm2 UTSW 13 41105754 missense probably damaging 1.00
R7456:Gcm2 UTSW 13 41103275 missense probably benign 0.02
R8293:Gcm2 UTSW 13 41103170 missense probably damaging 1.00
Z1088:Gcm2 UTSW 13 41102792 missense probably damaging 1.00
Posted On2016-08-02