Mutagenetix > Incidental Mutation

Incidental Mutation 'R5928:Gcm2'

460038

Institutional Source

Beutler Lab

Gene Symbol

Gcm2

Ensembl Gene

ENSMUSG00000021362

Gene Name

glial cells missing homolog 2

Synonyms

Gcm1-rs2

MMRRC Submission

044123-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.713) question?

Stock #

R5928 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41101427-41111035 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41103398 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 292 (Y292H)

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: Y292H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000021791
Gene: ENSMUSG00000021362
AA Change: Y292H

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

Meta Mutation Damage Score

0.0778

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

97% (90/93)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	A	17: 24,318,185	I475L	probably benign	Het
Abcc2	C	T	19: 43,819,358	R813W	probably damaging	Het
Adam34	T	C	8: 43,652,030	T193A	probably benign	Het
Adgb	T	C	10: 10,378,787	D1118G	probably damaging	Het
Adprh	A	C	16: 38,447,384	S180A	probably benign	Het
AI314180	A	T	4: 58,849,948	M425K	possibly damaging	Het
Atad5	A	T	11: 80,094,177	D30V	probably damaging	Het
Best3	G	A	10: 117,007,627	D303N	probably damaging	Het
Bmp2k	G	C	5: 97,087,736		probably benign	Het
Btc	A	T	5: 91,366,145	V86E	probably damaging	Het
C530008M17Rik	A	C	5: 76,841,734		probably benign	Het
Cacna2d4	G	T	6: 119,281,698	A582S	probably benign	Het
Carm1	A	G	9: 21,575,302		probably benign	Het
Catsperg1	A	T	7: 29,206,615	S180T	probably damaging	Het
Ccdc185	A	T	1: 182,747,482	H547Q	probably benign	Het
Ccl6	A	G	11: 83,588,832	I115T	possibly damaging	Het
Cd44	C	T	2: 102,824,303	V470M	probably damaging	Het
Cdc25a	T	C	9: 109,889,793	V354A	probably damaging	Het
Cdhr2	C	A	13: 54,734,019	Q1122K	probably benign	Het
Cep290	A	G	10: 100,551,830	K1958E	probably damaging	Het
Cfap53	C	T	18: 74,359,740	P512S	possibly damaging	Het
Chrdl2	A	T	7: 100,009,993		probably benign	Het
Clec7a	A	T	6: 129,465,467	F199Y	probably damaging	Het
Dhx29	A	G	13: 112,964,468	K1182E	probably benign	Het
Dnah11	G	T	12: 117,914,636		probably null	Het
Dnmt3a	A	G	12: 3,866,096	S94G	possibly damaging	Het
Egfem1	T	C	3: 29,582,928	V42A	possibly damaging	Het
Eif3e	T	A	15: 43,275,332		probably null	Het
Exosc9	T	A	3: 36,555,625		probably benign	Het
Fam92a	A	G	4: 12,171,919		probably benign	Het
Fbxw18	T	A	9: 109,700,081	T135S	probably damaging	Het
Fbxw21	T	C	9: 109,143,825	E347G	possibly damaging	Het
Gltpd2	C	A	11: 70,519,353	Q46K	probably benign	Het
Gm6741	A	G	17: 91,237,100	Y97C	probably damaging	Het
Golgb1	T	C	16: 36,911,987	L532S	probably damaging	Het
Hdac3	C	T	18: 37,941,341		probably benign	Het
Helz2	A	T	2: 181,230,384	F2554L	possibly damaging	Het
Hmbox1	T	A	14: 64,823,673	H384L	possibly damaging	Het
Hmcn1	G	T	1: 150,598,897	D4746E	possibly damaging	Het
Il17rb	C	A	14: 30,004,275		probably null	Het
Irak2	A	T	6: 113,676,626	I252F	probably damaging	Het
Khnyn	C	T	14: 55,885,887	R33C	probably damaging	Het
Ksr1	G	A	11: 79,059,719	P20L	probably damaging	Het
Lamc3	T	C	2: 31,921,709	Y903H	probably benign	Het
Miga2	T	C	2: 30,368,863		probably benign	Het
Mroh2a	A	C	1: 88,241,618	I672L	probably benign	Het
Ncoa4	T	C	14: 32,166,721		probably null	Het
Nphp3	T	C	9: 104,035,797	Y925H	probably benign	Het
Nr2c1	T	G	10: 94,188,193	L420R	probably damaging	Het
Olfr203	G	A	16: 59,303,158	E2K	probably damaging	Het
Olfr74	T	A	2: 87,974,036	S210C	probably benign	Het
Olfr857	A	T	9: 19,713,753	T309S	probably benign	Het
Onecut1	A	G	9: 74,862,784	N163S	probably benign	Het
Pcdhb18	G	A	18: 37,490,484	R289Q	probably benign	Het
Per2	C	T	1: 91,444,651	V234I	probably damaging	Het
Pign	A	G	1: 105,558,067	V735A	possibly damaging	Het
Plekha7	T	C	7: 116,128,574	K85R	probably benign	Het
Pnma2	C	T	14: 66,916,874	T249I	probably benign	Het
Polr2b	A	G	5: 77,345,342	D1057G	probably damaging	Het
Polrmt	A	T	10: 79,740,352	L519H	probably damaging	Het
Ptar1	T	C	19: 23,717,913	I248T	probably benign	Het
Ptprh	A	C	7: 4,573,508	L251R	probably damaging	Het
Purg	T	C	8: 33,386,952	M206T	probably benign	Het
Pwp2	A	T	10: 78,182,456	F134I	probably damaging	Het
Riok3	T	A	18: 12,153,018	H434Q	probably benign	Het
Sorbs2	A	G	8: 45,763,183	I187V	probably damaging	Het
Tbc1d2b	T	C	9: 90,219,144	I598V	probably benign	Het
Tdg	T	A	10: 82,641,370	V85E	probably benign	Het
Tfb1m	C	T	17: 3,543,147	V166I	probably benign	Het
Tmem163	A	T	1: 127,491,646	M274K	probably damaging	Het
Tpr	T	C	1: 150,428,127	I1343T	probably benign	Het
Ttn	T	A	2: 76,889,450		probably benign	Het
Usp34	A	G	11: 23,436,040	T2156A	probably damaging	Het
Vmn1r215	A	T	13: 23,076,317	T176S	possibly damaging	Het
Vps52	C	T	17: 33,961,126	P268L	possibly damaging	Het
Xbp1	G	A	11: 5,523,514		probably benign	Het
Ythdc2	T	A	18: 44,833,205	F169L	probably benign	Het
Zcchc6	G	A	13: 59,822,066	A5V	probably benign	Het
Zfyve16	T	C	13: 92,522,117	R429G	probably benign	Het
Zzef1	A	G	11: 72,912,852	E2504G	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- TGTAATAAGGCAATGTGGGCAC -3'
(R):5'- ATACCAGCTTCCCTATTCCAGG -3'

Sequencing Primer
(F):5'- TGGCATTGCTCACAGTCAAC -3'
(R):5'- CCTATTCCAGGGCAGCCC -3'

Posted On

2017-02-28