Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02456:Gcm2'

294175

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gcm2

Ensembl Gene

ENSMUSG00000021362

Gene Name

glial cells missing homolog 2

Synonyms

Gcm1-rs2

Accession Numbers

Essential gene?

Probably essential (E-score: 0.789) question?

Stock #

IGL02456

Quality Score

Status

Chromosome

Chromosomal Location

41101427-41111035 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41103001 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 424 (Y424C)

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: Y424C

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000021791
Gene: ENSMUSG00000021362
AA Change: Y424C

Domain	Start	End	E-Value	Type
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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	A	18: 38,261,124	L458Q	probably damaging	Het
4921511C20Rik	T	A	X: 127,394,961	Y174*	probably null	Het
Apc	C	A	18: 34,313,882	S1243*	probably null	Het
Atp8b5	A	G	4: 43,365,578	T731A	probably benign	Het
Bcl2a1c	T	A	9: 114,330,390	F79I	probably damaging	Het
Brip1	G	T	11: 86,065,099	L863I	possibly damaging	Het
Cbx4	T	A	11: 119,082,112	K146*	probably null	Het
Ccdc36	G	T	9: 108,406,621	T208K	probably benign	Het
Ces1a	C	T	8: 93,039,498	V163I	possibly damaging	Het
Ces5a	C	T	8: 93,528,644		probably benign	Het
Cfhr1	A	C	1: 139,556,393	N128K	possibly damaging	Het
Clcn3	T	C	8: 60,941,357	D46G	probably damaging	Het
Cntnap1	T	G	11: 101,178,129	I166S	probably benign	Het
Cntnap3	A	T	13: 64,799,058		probably benign	Het
Cntnap5c	T	A	17: 58,407,744		probably benign	Het
Ddx23	A	T	15: 98,647,549	V626E	probably damaging	Het
Gm9964	A	G	11: 79,296,370	F84L	probably damaging	Het
Grn	T	A	11: 102,436,104	D509E	probably benign	Het
Kdm5c	G	A	X: 152,246,318	D343N	probably damaging	Het
Ly75	C	T	2: 60,293,781	M1717I	probably benign	Het
Map1a	C	A	2: 121,298,653	P133T	probably damaging	Het
Mpp2	C	A	11: 102,059,373	A552S	possibly damaging	Het
Mtr	T	C	13: 12,199,094	I897M	probably damaging	Het
Npas3	A	T	12: 54,048,767	I337F	probably damaging	Het
Nup85	T	C	11: 115,581,865		probably benign	Het
Olfr118	T	A	17: 37,672,449	M142K	possibly damaging	Het
Olfr325	T	A	11: 58,581,198	L118H	possibly damaging	Het
Olfr517	A	G	7: 108,869,050	Y35H	probably benign	Het
Olfr630	T	A	7: 103,755,493	I31F	possibly damaging	Het
Olfr683	T	C	7: 105,143,759	N178S	probably damaging	Het
Pdia4	A	T	6: 47,803,495	D301E	probably benign	Het
Phf2	C	A	13: 48,828,846	G134C	unknown	Het
Polr2h	T	A	16: 20,720,602	L76H	probably damaging	Het
Rbm47	G	A	5: 66,027,021	R80C	probably damaging	Het
Sfmbt1	T	C	14: 30,785,880	S286P	probably damaging	Het
Slc5a12	T	C	2: 110,616,834		probably benign	Het
Tacc2	T	C	7: 130,626,261	S1559P	probably benign	Het
Tbc1d16	T	G	11: 119,210,546	H46P	probably damaging	Het
Tbck	A	G	3: 132,734,714		probably benign	Het
Tmtc4	A	T	14: 122,925,962		probably null	Het
Ttc13	T	C	8: 124,690,361		probably null	Het
Ttc17	T	C	2: 94,362,785		probably benign	Het
Vmn1r121	T	A	7: 21,098,513	M1L	possibly damaging	Het
Vps13c	T	C	9: 67,952,976	S2825P	probably damaging	Het
Zan	A	C	5: 137,446,844	S1718A	unknown	Het
Zfp39	G	T	11: 58,902,800	Y37*	probably null	Het
Zfp407	T	C	18: 84,558,641	N1449S	probably damaging	Het
Zhx2	C	A	15: 57,823,639	D801E	possibly damaging	Het

Other mutations in Gcm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R8738:Gcm2	UTSW	13	41104620	missense	probably benign	0.41
R9087:Gcm2	UTSW	13	41109930	missense
R9316:Gcm2	UTSW	13	41105852	missense	probably damaging	1.00
R9799:Gcm2	UTSW	13	41105448	missense	probably damaging	1.00
Z1088:Gcm2	UTSW	13	41102792	missense	probably damaging	1.00

Posted On

2015-04-16