Mutagenetix > Incidental Mutation

Incidental Mutation 'R1813:Gcm2'

202583

Institutional Source

Beutler Lab

Gene Symbol

Gcm2

Ensembl Gene

ENSMUSG00000021362

Gene Name

glial cells missing homolog 2

Synonyms

Gcm1-rs2

MMRRC Submission

039841-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.706) question?

Stock #

R1813 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41101427-41111035 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41105891 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 34 (H34R)

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: H34R

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000021791
Gene: ENSMUSG00000021362
AA Change: H34R

Domain	Start	End	E-Value	Type
Pfam:GCM	35	172	4.8e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000225271
AA Change: H34R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225420

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.8%
20x: 90.3%

Validation Efficiency

96% (79/82)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,566,273	N595Y	probably benign	Het
Abca6	A	G	11: 110,233,845		probably benign	Het
Abo	C	A	2: 26,843,597	D199Y	probably damaging	Het
Acvr1c	A	C	2: 58,280,294	V277G	probably damaging	Het
Adam23	G	A	1: 63,545,572	A380T	probably benign	Het
Art2b	A	G	7: 101,580,029	V221A	probably benign	Het
Bcam	A	G	7: 19,766,715	S153P	probably damaging	Het
Brip1	T	C	11: 86,187,080	H174R	possibly damaging	Het
Ccdc186	T	C	19: 56,800,169	D536G	probably benign	Het
Cd109	A	G	9: 78,617,005	N67S	probably benign	Het
Cd8a	G	T	6: 71,373,963	M137I	possibly damaging	Het
Ces2g	T	C	8: 104,966,937	F417L	probably benign	Het
Clec2g	A	G	6: 128,948,697	N23S	unknown	Het
Cntnap2	T	C	6: 46,530,633	Y61C	probably damaging	Het
Cog3	T	A	14: 75,742,344	E182D	probably benign	Het
Dbpht2	A	G	12: 74,295,850		noncoding transcript	Het
Dock4	A	T	12: 40,636,228	N154I	probably damaging	Het
Dysf	T	G	6: 84,151,924	V1422G	possibly damaging	Het
E2f3	T	C	13: 29,920,176	D140G	probably damaging	Het
Epb41l2	T	A	10: 25,441,568		probably null	Het
Epha2	A	G	4: 141,308,546	K98E	possibly damaging	Het
Esyt1	T	C	10: 128,519,618	D444G	probably benign	Het
Fam163a	T	C	1: 156,080,041	T2A	probably damaging	Het
Foxp2	A	T	6: 15,379,768		probably benign	Het
Gipr	A	G	7: 19,164,071	S79P	probably benign	Het
Gli3	T	C	13: 15,648,691	S333P	probably damaging	Het
Gm10717	T	G	9: 3,026,317	F205C	probably damaging	Het
Gm11639	A	G	11: 104,720,688	K452R	probably benign	Het
Gzmk	A	G	13: 113,172,893	S208P	probably damaging	Het
Htra2	G	T	6: 83,051,602	A318D	probably damaging	Het
Itpkc	T	C	7: 27,208,380	D633G	probably damaging	Het
Lama1	G	A	17: 67,791,223	R1805H	probably benign	Het
Lama4	T	A	10: 39,033,125		probably benign	Het
Lama4	T	C	10: 39,060,186	V619A	probably damaging	Het
Notch3	T	C	17: 32,143,428	T1408A	probably benign	Het
Nwd2	A	G	5: 63,805,410	D779G	probably benign	Het
Nxpe4	A	G	9: 48,393,378	Y255C	possibly damaging	Het
Obox6	A	T	7: 15,834,845	H35Q	possibly damaging	Het
Olfr324	A	G	11: 58,598,307	I304V	probably damaging	Het
Olfr890	T	A	9: 38,143,729	I198N	possibly damaging	Het
Pkig	T	A	2: 163,721,227	I26N	possibly damaging	Het
Plekhm2	C	T	4: 141,642,439	V82M	possibly damaging	Het
Plppr2	G	A	9: 21,947,924	A446T	probably damaging	Het
Psme4	T	A	11: 30,804,353	F203L	probably benign	Het
Sh3bp1	A	G	15: 78,903,680	K137E	probably damaging	Het
Shisa5	T	A	9: 109,056,040	I126N	probably damaging	Het
Slc11a1	T	C	1: 74,375,772	L21P	probably benign	Het
Slc35f1	C	T	10: 52,933,195	P93S	probably damaging	Het
Slc4a4	A	G	5: 89,046,308	T172A	probably damaging	Het
Slc9c1	A	T	16: 45,573,347	Y551F	probably benign	Het
Spata31	T	C	13: 64,921,798	S587P	probably benign	Het
Syna	C	A	5: 134,559,152	M314I	probably benign	Het
Taf5l	A	G	8: 124,003,413	L144P	probably damaging	Het
Tbccd1	T	C	16: 22,822,521	T369A	probably benign	Het
Tnfrsf11b	A	T	15: 54,256,097	C160*	probably null	Het
Trim45	A	G	3: 100,922,967	N19S	probably benign	Het
Uba2	A	G	7: 34,151,030	F364S	probably damaging	Het
Unc50	T	A	1: 37,437,242	L161Q	probably damaging	Het
Uso1	A	T	5: 92,201,133		probably null	Het
Usp25	A	G	16: 77,114,950	I956V	probably benign	Het
Utf1	C	A	7: 139,944,300	L143I	probably damaging	Het
Vmn1r158	C	T	7: 22,790,718	C22Y	probably damaging	Het
Vmn1r36	T	A	6: 66,716,772	M40L	probably benign	Het
Vmn2r43	A	G	7: 8,255,056	V386A	possibly damaging	Het
Vps9d1	C	A	8: 123,247,039	R335L	probably damaging	Het
Wasf1	T	A	10: 40,926,589	V80D	probably damaging	Het
Wdr72	G	A	9: 74,276,016	V1077I	possibly damaging	Het
Wnt8a	A	G	18: 34,542,369	M1V	probably null	Het
Zbtb26	A	G	2: 37,436,335	S230P	possibly damaging	Het
Zfp335	A	G	2: 164,892,605	V1247A	probably damaging	Het
Zfp429	T	C	13: 67,390,386	N313S	possibly damaging	Het
Zfp74	A	T	7: 29,935,144	C380S	probably damaging	Het
Zfyve21	G	A	12: 111,824,894	E134K	probably damaging	Het
Zmynd11	T	C	13: 9,689,580	T474A	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACTTTGTTGCTTCAGCCGGG -3'
(R):5'- TGCAGCTGGAGATTGACATTG -3'

Sequencing Primer
(F):5'- TTGTCACAGATGGCTGGCCTC -3'
(R):5'- TGTGATCCGGGCTTCTTA -3'

Posted On

2014-06-23