Incidental Mutation 'IGL02034:Gcm2'
ID184461
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: 0.452) question?
Stock #IGL02034
Quality Score
Status
Chromosome13
Chromosomal Location41101427-41111035 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 41105793 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 67 (R67C)
Ref Sequence ENSEMBL: ENSMUSP00000153244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021791] [ENSMUST00000225271]
Predicted Effect probably damaging
Transcript: ENSMUST00000021791
AA Change: R67C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021791
Gene: ENSMUSG00000021362
AA Change: R67C

DomainStartEndE-ValueType
Pfam:GCM 35 172 4.8e-74 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000225271
AA Change: R67C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930021J03Rik A G 19: 29,716,859 S1745P possibly damaging Het
Bcor A G X: 12,039,259 S1556P possibly damaging Het
Ccdc6 T A 10: 70,169,148 I241N probably benign Het
Cd81 T C 7: 143,066,249 I48T probably damaging Het
Cfap52 A G 11: 67,946,292 probably null Het
Cfap54 T C 10: 93,061,485 M264V probably damaging Het
Cmya5 G A 13: 93,084,535 probably benign Het
Csn2 A G 5: 87,696,082 probably benign Het
Cyfip1 G A 7: 55,898,353 R567Q probably damaging Het
Ehbp1 A G 11: 22,285,486 probably null Het
Ermp1 G A 19: 29,645,959 probably benign Het
Erv3 C T 2: 131,856,014 V142I possibly damaging Het
Fzd2 A G 11: 102,604,904 N58S probably damaging Het
Gm17019 A G 5: 15,030,252 I182T possibly damaging Het
Gpr45 T C 1: 43,033,318 *374Q probably null Het
Haus8 T C 8: 71,255,558 N165S probably damaging Het
Hoxd4 T A 2: 74,728,406 L191Q probably damaging Het
I830077J02Rik A G 3: 105,927,249 probably benign Het
Lpl T C 8: 68,880,772 L7P possibly damaging Het
Lrp1b T A 2: 41,268,370 K1612* probably null Het
Myh14 G T 7: 44,616,293 A1546D possibly damaging Het
Nbea A G 3: 55,968,156 S1698P probably damaging Het
Olfr1217 C T 2: 89,023,671 V111M probably benign Het
Olfr470 G A 7: 107,845,178 T185I probably benign Het
Olfr676 C A 7: 105,035,390 T64N probably benign Het
Olfr9 A T 10: 128,990,701 Q263L probably benign Het
Otog A T 7: 46,295,993 K40* probably null Het
Rgma C A 7: 73,417,433 H145Q probably damaging Het
Rpgrip1l A T 8: 91,251,148 probably null Het
Ssxb2 T A X: 8,458,504 probably benign Het
Tmem175 C T 5: 108,642,136 T118I probably damaging Het
Wdhd1 A G 14: 47,261,351 V542A probably benign Het
Zfp977 G A 7: 42,580,712 P130S probably 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
IGL02186:Gcm2 APN 13 41104649 missense possibly damaging 0.93
IGL02456:Gcm2 APN 13 41103001 missense probably benign 0.01
IGL03142:Gcm2 APN 13 41103235 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 On2014-05-07