Mutagenetix > Incidental Mutation

Incidental Mutation 'R2059:Gcm2'

228507

Institutional Source

Beutler Lab

Gene Symbol

Gcm2

Ensembl Gene

ENSMUSG00000021362

Gene Name

glial cells missing homolog 2

Synonyms

Gcm1-rs2

MMRRC Submission

040064-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.748) question?

Stock #

R2059 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41101427-41111035 bp(-) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to C at 41109954 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1 (M1V)

Ref Sequence

ENSEMBL: ENSMUSP00000153244 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021791] [ENSMUST00000124093] [ENSMUST00000225271]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000021791
AA Change: M1V

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000021791
Gene: ENSMUSG00000021362
AA Change: M1V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000124093

Predicted Effect

probably null
Transcript: ENSMUST00000225271
AA Change: M1V

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225420

Meta Mutation Damage Score

0.8121

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

99% (99/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	G	A	6: 41,032,381	T173I	probably benign	Het
Adgrf3	G	A	5: 30,199,491	H316Y	possibly damaging	Het
Adgrf5	A	G	17: 43,428,586	Y72C	possibly damaging	Het
Ak5	T	A	3: 152,660,637	L42F	probably damaging	Het
Alas1	T	C	9: 106,241,290	E211G	probably damaging	Het
Alkbh1	C	T	12: 87,443,750		probably benign	Het
Als2cl	T	C	9: 110,885,438	V118A	probably benign	Het
Ano1	G	C	7: 144,611,390	L641V	probably damaging	Het
Arfgef1	C	T	1: 10,188,752		probably null	Het
Atf6b	A	T	17: 34,648,575		probably null	Het
Atf7ip	T	G	6: 136,609,348		probably benign	Het
Atp2b4	G	T	1: 133,726,537	Q777K	probably benign	Het
Baz2a	T	A	10: 128,113,578	S347R	probably damaging	Het
C2cd3	T	C	7: 100,455,493		probably benign	Het
Cage1	A	G	13: 38,023,380	V163A	probably benign	Het
Cdh12	T	A	15: 21,583,740	N555K	probably benign	Het
Cenpj	G	A	14: 56,563,955	P187L	possibly damaging	Het
Cep112	T	A	11: 108,519,261		probably null	Het
Cfap54	A	T	10: 92,942,979		probably benign	Het
Cgref1	T	G	5: 30,933,645	D275A	possibly damaging	Het
Clgn	A	C	8: 83,399,978	N103H	probably benign	Het
Corin	A	G	5: 72,316,051	V905A	possibly damaging	Het
Csta1	A	C	16: 36,122,322	D72E	probably benign	Het
Cul5	A	T	9: 53,667,156	L44Q	probably damaging	Het
Dmbt1	G	A	7: 131,106,170	A1381T	possibly damaging	Het
Dync1i2	G	A	2: 71,249,853		probably null	Het
Enoph1	A	G	5: 100,059,219	D55G	probably damaging	Het
Fam160b2	A	G	14: 70,585,049	V744A	possibly damaging	Het
Fat4	T	A	3: 38,891,170	M1404K	possibly damaging	Het
Foxi2	G	T	7: 135,410,677	G98V	probably damaging	Het
Galr2	T	C	11: 116,282,939	S132P	probably damaging	Het
Gm15446	C	T	5: 109,942,496	H205Y	probably damaging	Het
Gm21775	T	A	Y: 10,553,910	I153N	probably benign	Het
Grip1	A	G	10: 120,038,698	K789R	possibly damaging	Het
Gsk3b	T	A	16: 38,187,909	D192E	probably benign	Het
Herc2	T	A	7: 56,163,897	H2625Q	probably damaging	Het
Hoxc9	A	G	15: 102,984,123	D256G	probably benign	Het
Il7	A	T	3: 7,573,915	N130K	probably damaging	Het
Irf2	A	T	8: 46,807,345	N104I	probably damaging	Het
Kat6a	A	G	8: 22,939,305	N1559D	possibly damaging	Het
Kcnq4	G	T	4: 120,698,002	F661L	probably benign	Het
Kdm5b	T	A	1: 134,613,214	D681E	probably benign	Het
Khdrbs1	T	C	4: 129,725,721	E209G	probably damaging	Het
Lama3	A	T	18: 12,528,333	R2116S	probably damaging	Het
Mir124-2hg	C	A	3: 17,785,713	E65*	probably null	Het
Mphosph10	T	A	7: 64,376,751	L650F	probably damaging	Het
Mrpl48	T	C	7: 100,549,333	E204G	probably damaging	Het
Msl3l2	T	A	10: 56,115,944	L255Q	probably damaging	Het
Mx1	T	A	16: 97,454,179	K225*	probably null	Het
Nf1	T	C	11: 79,556,723	V435A	probably damaging	Het
Nid1	A	C	13: 13,500,473	H926P	probably benign	Het
Nlrp9a	T	A	7: 26,557,362	I46K	possibly damaging	Het
Nop2	T	A	6: 125,139,860	M359K	probably null	Het
Nox1	T	C	X: 134,095,244		probably benign	Het
Ogdhl	G	A	14: 32,332,884	R263K	probably damaging	Het
Olfr1388	T	A	11: 49,444,451	V200E	probably damaging	Het
Olfr293	A	T	7: 86,664,383	K240N	probably damaging	Het
Pbsn	T	C	X: 77,847,976	K72E	probably damaging	Het
Pde12	T	C	14: 26,668,880	I225V	probably benign	Het
Ppt2	A	T	17: 34,622,844		probably benign	Het
Prl3a1	A	G	13: 27,270,144	D35G	probably benign	Het
Ptprk	T	A	10: 28,566,603	I893N	probably damaging	Het
Ptprz1	T	C	6: 22,986,323		probably benign	Het
Rab3c	A	G	13: 110,260,516	V72A	probably damaging	Het
Rbms2	A	G	10: 128,137,518	S251P	probably benign	Het
Rfwd3	A	G	8: 111,297,495	V65A	probably benign	Het
Rps6kl1	T	A	12: 85,139,623	Y211F	probably benign	Het
Saal1	T	C	7: 46,699,456	Q317R	probably damaging	Het
Scg3	T	C	9: 75,665,716	D311G	probably damaging	Het
Sdk2	C	A	11: 113,854,332	M712I	probably damaging	Het
Serinc2	T	G	4: 130,260,785	Y158S	probably damaging	Het
Serpinb9c	A	T	13: 33,156,871	C81*	probably null	Het
Sgpp2	T	A	1: 78,416,951	L197Q	probably damaging	Het
Shroom3	A	T	5: 92,683,784	T40S	probably damaging	Het
Sik1	A	G	17: 31,848,797	S435P	probably benign	Het
Slc7a3	A	G	X: 101,080,767	V464A	probably benign	Het
Snd1	T	C	6: 28,745,207	F517S	probably damaging	Het
Spata13	A	C	14: 60,759,591	I1165L	possibly damaging	Het
St8sia5	A	T	18: 77,254,763	I390F	probably damaging	Het
Stat5b	A	T	11: 100,787,332	S652T	probably benign	Het
Stom	A	G	2: 35,316,025	S231P	probably damaging	Het
Sult1b1	A	G	5: 87,535,033	Y18H	probably damaging	Het
Tgm4	T	C	9: 123,061,770	I54T	probably damaging	Het
Tmem176b	G	A	6: 48,836,333	T64I	probably damaging	Het
Tmem87a	A	T	2: 120,369,292	I457N	probably damaging	Het
Trim12c	A	G	7: 104,348,191	F53L	possibly damaging	Het
Ttc6	T	A	12: 57,737,693	D1849E	probably benign	Het
Ubap2l	A	T	3: 90,031,376		probably benign	Het
Ush2a	T	G	1: 188,381,549		probably null	Het
Usp17la	A	C	7: 104,861,171	T328P	probably damaging	Het
Ust	A	G	10: 8,207,566	Y349H	probably damaging	Het
V1rd19	A	T	7: 24,003,834	M242L	probably benign	Het
Vmn1r33	T	A	6: 66,612,202	M123L	probably benign	Het
Vps13c	A	T	9: 67,860,833	K111N	probably damaging	Het
Vwa3a	A	G	7: 120,758,949	D81G	probably damaging	Het
Zfp318	G	A	17: 46,397,024	R336Q	probably damaging	Het
Zfp609	A	G	9: 65,704,434	S416P	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
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
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'- GCTGACTACTTGGGAACATGTC -3'
(R):5'- TTACTGTCTGAATCCCTCCATATCTG -3'

Sequencing Primer
(F):5'- ACTTCCCTACATATCCGAAGATGTG -3'
(R):5'- GTGTGTATATCTGCCTCTCTCTG -3'

Posted On

2014-09-17