Mutagenetix > Incidental Mutation

Incidental Mutation 'R5135:Gcm2'

396160

Institutional Source

Beutler Lab

Gene Symbol

Gcm2

Ensembl Gene

ENSMUSG00000021362

Gene Name

glial cells missing homolog 2

Synonyms

Gcm1-rs2

MMRRC Submission

043261-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.789) question?

Stock #

R5135 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41101427-41111035 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41102959 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 438 (V438A)

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: V438A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021791
Gene: ENSMUSG00000021362
AA Change: V438A

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

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (82/84)

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
1700056E22Rik	T	C	1: 184,033,506	S119G	probably benign	Het
4930553M12Rik	G	T	4: 88,868,271	H37N	unknown	Het
Adam10	T	A	9: 70,766,074	C496S	probably damaging	Het
Akap2	G	T	4: 57,855,912	A414S	probably benign	Het
Aldh18a1	A	C	19: 40,554,817		probably benign	Het
Alox5	A	G	6: 116,413,786	F468S	probably benign	Het
Ankrd50	T	C	3: 38,455,803	H805R	probably damaging	Het
Ap2s1	T	A	7: 16,747,323	D72E	probably damaging	Het
Apaf1	T	C	10: 91,060,094	Y372C	probably damaging	Het
Apob	C	T	12: 8,010,086	T2823I	probably damaging	Het
Bhmt	A	G	13: 93,627,323	V70A	probably damaging	Het
Cdc42bpg	T	A	19: 6,320,618	L1247H	probably damaging	Het
Cel	A	G	2: 28,559,423	V264A	probably benign	Het
Celsr2	T	C	3: 108,398,659	N2043S	probably damaging	Het
Clca4a	A	T	3: 144,954,946	W706R	probably damaging	Het
Col22a1	G	T	15: 71,799,337	P1058Q	unknown	Het
Cyp4a14	A	G	4: 115,489,960		probably null	Het
Dhx30	T	G	9: 110,098,795	R55S	probably damaging	Het
Dlgap5	C	T	14: 47,399,665	R452H	probably damaging	Het
Dnah12	T	A	14: 26,770,477	D1191E	probably damaging	Het
Dock3	A	T	9: 106,932,997	I164N	probably damaging	Het
Edrf1	T	A	7: 133,651,044	M436K	probably benign	Het
Eif2ak2	T	A	17: 78,866,345	Y268F	probably damaging	Het
Evi2a	G	A	11: 79,527,451	T111M	possibly damaging	Het
Fzd4	A	G	7: 89,407,501	E252G	probably damaging	Het
Gm10722	T	C	9: 3,000,937	C6R	probably benign	Het
Gm21994	A	T	2: 150,255,490	Y34*	probably null	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Gm4846	T	C	1: 166,483,982	D436G	probably damaging	Het
Gm5414	T	A	15: 101,627,768	I141F	probably damaging	Het
Gm6185	T	A	1: 161,198,231		noncoding transcript	Het
Grip2	T	C	6: 91,773,916	E776G	possibly damaging	Het
H2-Ob	T	A	17: 34,243,516	V160E	probably benign	Het
Hormad1	T	C	3: 95,585,220		probably benign	Het
Ighv2-1	A	T	12: 113,574,462		probably benign	Het
Igkv4-92	A	T	6: 68,755,554	C14S	probably benign	Het
Iqsec3	T	C	6: 121,383,919	I993M	probably damaging	Het
Kdm5b	T	A	1: 134,588,746		probably benign	Het
Kitl	T	C	10: 100,088,222		probably null	Het
Klhl26	G	T	8: 70,452,718	R100S	probably benign	Het
Kpna4	C	T	3: 69,092,809		probably null	Het
Lama5	T	A	2: 180,202,220	N383Y	possibly damaging	Het
Large1	T	G	8: 72,818,096	I685L	probably benign	Het
Larp4b	A	G	13: 9,170,737	E590G	probably damaging	Het
Liph	A	T	16: 21,956,165	C425*	probably null	Het
Lrrc31	A	T	3: 30,684,890	C327*	probably null	Het
Lrrc36	T	C	8: 105,463,898	V733A	probably benign	Het
Mmel1	T	A	4: 154,882,324	I83K	probably benign	Het
Myo16	G	T	8: 10,476,114	V885L	probably benign	Het
Naip2	A	T	13: 100,179,440	N277K	probably damaging	Het
Ncapg2	T	A	12: 116,427,786	I485N	possibly damaging	Het
Npc1l1	A	T	11: 6,224,245	Y687N	possibly damaging	Het
Obscn	A	T	11: 59,129,653	V922E	probably damaging	Het
Oc90	A	G	15: 65,883,830	S223P	probably benign	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr1253	A	T	2: 89,751,895	L311H	possibly damaging	Het
Olfr1508	T	C	14: 52,463,854	I52V	probably benign	Het
Pdlim5	C	T	3: 142,304,365	R174H	probably benign	Het
Pex5l	G	T	3: 32,955,831	A386E	probably damaging	Het
Plcxd1	T	A	5: 110,101,363		probably benign	Het
Pramef8	T	G	4: 143,419,009	S349R	probably benign	Het
Prl8a1	A	T	13: 27,579,819		probably null	Het
Ryr2	G	T	13: 11,662,130	N3278K	probably benign	Het
Sacm1l	A	G	9: 123,577,025	M324V	probably benign	Het
Sdad1	T	C	5: 92,303,934	T143A	probably benign	Het
Sec11a	A	T	7: 80,923,064		probably benign	Het
Sema6a	A	G	18: 47,291,172	V223A	probably damaging	Het
Serpinb6c	A	G	13: 33,880,097	V325A	probably damaging	Het
Slc4a2	G	A	5: 24,430,127	A177T	possibly damaging	Het
Slc5a4a	A	G	10: 76,147,594	N22D	unknown	Het
Stard13	C	T	5: 151,062,767	W308*	probably null	Het
Tanc2	C	T	11: 105,857,553	L504F	possibly damaging	Het
Tfap2e	G	T	4: 126,720,544	N282K	probably damaging	Het
Uhrf1bp1l	T	C	10: 89,789,355	I48T	probably damaging	Het
Usp36	G	T	11: 118,264,905	T682K	possibly damaging	Het
Zc3h11a	T	C	1: 133,633,789	T315A	probably benign	Het
Zfa-ps	T	A	10: 52,543,022		noncoding transcript	Het
Zfp663	A	T	2: 165,353,670	C210S	possibly damaging	Het
Zfp747	T	C	7: 127,374,394	I201M	probably damaging	Het
Zic4	C	T	9: 91,384,152	T276M	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
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

Predicted Primers

Posted On

2016-06-21