Mutagenetix > Incidental Mutation

Incidental Mutation 'R9087:Gcm2'

690708

Institutional Source

Beutler Lab

Gene Symbol

Gcm2

Ensembl Gene

ENSMUSG00000021362

Gene Name

glial cells missing homolog 2

Synonyms

Gcm1-rs2

MMRRC Submission

068906-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.735) question?

Stock #

R9087 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41254903-41264511 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 41263406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glutamine at position 9 (E9Q)

Ref Sequence

ENSEMBL: ENSMUSP00000021791 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000021791
Gene: ENSMUSG00000021362
AA Change: E9Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000124093

Predicted Effect

probably benign
Transcript: ENSMUST00000225271
AA Change: E9Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	G	8: 111,768,169 (GRCm39)	D180G	probably damaging	Het
Abcb6	A	T	1: 75,150,211 (GRCm39)	I649K	probably damaging	Het
Ace	T	C	11: 105,872,745 (GRCm39)	F969S	probably damaging	Het
Ankrd26	A	G	6: 118,536,230 (GRCm39)		probably null	Het
Apobec1	A	T	6: 122,558,700 (GRCm39)	L9*	probably null	Het
Atp13a1	A	G	8: 70,256,457 (GRCm39)	D865G	probably damaging	Het
Barhl1	T	C	2: 28,805,231 (GRCm39)	Y154C	probably damaging	Het
Bbx	T	C	16: 50,094,998 (GRCm39)	D106G	probably damaging	Het
Cacna1a	G	A	8: 85,365,432 (GRCm39)	A2192T	probably benign	Het
Cacnb1	T	C	11: 97,893,833 (GRCm39)	N563S	possibly damaging	Het
Capn5	A	T	7: 97,775,531 (GRCm39)	I470N	probably damaging	Het
Cd300c	T	C	11: 114,850,591 (GRCm39)	T71A	probably damaging	Het
Celf4	T	A	18: 25,637,327 (GRCm39)	S223C	probably damaging	Het
Cftr	A	C	6: 18,214,180 (GRCm39)	I119L	possibly damaging	Het
Cmya5	T	C	13: 93,233,711 (GRCm39)	E459G	possibly damaging	Het
Cntn2	A	G	1: 132,453,108 (GRCm39)	Y395H	probably damaging	Het
Cntnap3	T	C	13: 64,899,532 (GRCm39)	D987G	probably damaging	Het
Col5a2	T	A	1: 45,481,818 (GRCm39)	D102V	unknown	Het
Cpeb2	T	C	5: 43,438,461 (GRCm39)	F812L		Het
Cpsf3	T	A	12: 21,358,995 (GRCm39)	L565Q	probably damaging	Het
Ctnnd1	A	C	2: 84,439,922 (GRCm39)	L796R	probably damaging	Het
Dach1	A	G	14: 98,406,267 (GRCm39)	L160P	probably benign	Het
Dennd1a	A	C	2: 37,911,366 (GRCm39)		probably null	Het
Dnah12	T	C	14: 26,546,503 (GRCm39)	I2431T	probably damaging	Het
Ep400	A	T	5: 110,815,430 (GRCm39)	Y2887*	probably null	Het
Erich1	T	C	8: 14,083,623 (GRCm39)	D149G	probably damaging	Het
Fut2	T	C	7: 45,300,493 (GRCm39)	N93S	probably damaging	Het
Gba2	C	T	4: 43,568,304 (GRCm39)	A688T	probably benign	Het
Gfod1	T	C	13: 43,353,838 (GRCm39)	E379G	probably damaging	Het
Gfod2	A	G	8: 106,454,851 (GRCm39)	F10L	probably damaging	Het
Gm4871	T	G	5: 144,969,088 (GRCm39)	H75P	possibly damaging	Het
Gtpbp3	T	A	8: 71,944,999 (GRCm39)	V418E	probably benign	Het
Hif1a	T	A	12: 73,989,099 (GRCm39)	I688K	probably benign	Het
Ifi44	G	T	3: 151,451,517 (GRCm39)	S196R	probably damaging	Het
Igfn1	T	C	1: 135,902,606 (GRCm39)		probably null	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kl	A	G	5: 150,911,957 (GRCm39)	K569E	probably benign	Het
Klkb1	G	A	8: 45,728,515 (GRCm39)	Q415*	probably null	Het
L1td1	A	G	4: 98,624,699 (GRCm39)	D298G	possibly damaging	Het
L2hgdh	C	T	12: 69,749,131 (GRCm39)	R252Q	probably benign	Het
Lipc	C	G	9: 70,709,390 (GRCm39)	K452N	probably benign	Het
Lrp10	C	A	14: 54,705,621 (GRCm39)	S270R	probably damaging	Het
Ly6e	T	G	15: 74,829,649 (GRCm39)	L14R	probably benign	Het
Mast3	T	C	8: 71,242,330 (GRCm39)	D90G	possibly damaging	Het
Mmp27	T	C	9: 7,579,858 (GRCm39)	F444S	probably damaging	Het
Mrgpra2b	A	T	7: 47,114,518 (GRCm39)	N71K	probably benign	Het
Nbea	C	A	3: 55,550,157 (GRCm39)		probably null	Het
Ndufb10	A	G	17: 24,943,159 (GRCm39)		probably null	Het
Ndufb9	C	T	15: 58,811,151 (GRCm39)	P146S	probably benign	Het
Nhsl1	T	C	10: 18,407,030 (GRCm39)	V1388A	probably damaging	Het
Nomo1	C	A	7: 45,732,748 (GRCm39)	D1170E	probably benign	Het
Nop2	G	T	6: 125,114,391 (GRCm39)	R254L	probably benign	Het
Nup160	A	T	2: 90,514,429 (GRCm39)	T126S	probably benign	Het
Opa1	A	G	16: 29,437,053 (GRCm39)	D654G	probably damaging	Het
Or1j15	T	C	2: 36,459,345 (GRCm39)	L245P	probably damaging	Het
Or2j6	A	T	7: 139,980,547 (GRCm39)	C137*	probably null	Het
Or51h1	A	G	7: 102,308,964 (GRCm39)	K312R	probably benign	Het
Or52e8b	C	T	7: 104,673,910 (GRCm39)	W92*	probably null	Het
Or5aq1b	A	G	2: 86,902,299 (GRCm39)	Y60H	probably damaging	Het
Or5p68	A	G	7: 107,945,958 (GRCm39)	S77P	probably damaging	Het
Or8b52	A	G	9: 38,576,711 (GRCm39)	L143P	probably damaging	Het
Or8k18	A	G	2: 86,085,380 (GRCm39)	M219T	probably benign	Het
Osbp2	T	A	11: 3,667,976 (GRCm39)	D7V	probably damaging	Het
Osr2	A	T	15: 35,301,010 (GRCm39)	I189F	probably damaging	Het
Pdlim5	A	G	3: 142,058,594 (GRCm39)	V50A	possibly damaging	Het
Pik3r3	A	G	4: 116,148,931 (GRCm39)	N334S	probably benign	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Ppfia4	A	G	1: 134,240,326 (GRCm39)	I889T	probably damaging	Het
Prpf38b	T	C	3: 108,811,657 (GRCm39)	K403E	unknown	Het
Rgs20	T	G	1: 4,994,190 (GRCm39)	E31A	possibly damaging	Het
Rpl11	A	T	4: 135,780,000 (GRCm39)	M12K	possibly damaging	Het
Rreb1	C	A	13: 38,115,644 (GRCm39)	T1001K	probably benign	Het
Ruvbl1	A	G	6: 88,474,355 (GRCm39)	K453E	probably benign	Het
Sdc4	A	T	2: 164,270,959 (GRCm39)	V100D	probably benign	Het
Simc1	C	A	13: 54,672,147 (GRCm39)	T165K	probably benign	Het
Slc2a3	A	G	6: 122,717,408 (GRCm39)	V16A	probably benign	Het
Smbd1	A	T	16: 32,627,130 (GRCm39)	S53T	possibly damaging	Het
Smndc1	A	T	19: 53,372,074 (GRCm39)	N113K	possibly damaging	Het
Tas2r139	T	G	6: 42,118,168 (GRCm39)	F100C	probably damaging	Het
Tubgcp5	A	G	7: 55,467,106 (GRCm39)	Y692C	probably damaging	Het
Ube2d2a	T	C	18: 35,933,197 (GRCm39)	I78T	probably benign	Het
Ugt2b37	C	T	5: 87,401,996 (GRCm39)	V212I	probably benign	Het
Wars2	A	G	3: 99,124,063 (GRCm39)	D308G	possibly damaging	Het
Yeats2	G	A	16: 20,030,500 (GRCm39)		probably null	Het
Zfp385a	G	T	15: 103,224,318 (GRCm39)	H219N	possibly damaging	Het
Zfp407	T	C	18: 84,227,982 (GRCm39)	T1876A	probably damaging	Het

Other mutations in Gcm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01312:Gcm2	APN	13	41,256,607 (GRCm39)	missense	probably damaging	1.00
IGL01476:Gcm2	APN	13	41,259,217 (GRCm39)	missense	probably damaging	1.00
IGL02034:Gcm2	APN	13	41,259,269 (GRCm39)	missense	probably damaging	1.00
IGL02186:Gcm2	APN	13	41,258,125 (GRCm39)	missense	possibly damaging	0.93
IGL02456:Gcm2	APN	13	41,256,477 (GRCm39)	missense	probably benign	0.01
IGL03142:Gcm2	APN	13	41,256,711 (GRCm39)	missense	probably benign	0.01
IGL03184:Gcm2	APN	13	41,258,888 (GRCm39)	missense	probably damaging	1.00
PIT4403001:Gcm2	UTSW	13	41,256,315 (GRCm39)	missense	probably benign	0.01
R0227:Gcm2	UTSW	13	41,259,332 (GRCm39)	missense	probably damaging	0.99
R1061:Gcm2	UTSW	13	41,259,347 (GRCm39)	missense	probably damaging	1.00
R1813:Gcm2	UTSW	13	41,259,367 (GRCm39)	missense	probably benign	0.19
R2057:Gcm2	UTSW	13	41,263,430 (GRCm39)	start codon destroyed	probably null	0.28
R2058:Gcm2	UTSW	13	41,263,430 (GRCm39)	start codon destroyed	probably null	0.28
R2059:Gcm2	UTSW	13	41,263,430 (GRCm39)	start codon destroyed	probably null	0.28
R2351:Gcm2	UTSW	13	41,257,094 (GRCm39)	missense	probably benign	0.02
R4653:Gcm2	UTSW	13	41,256,317 (GRCm39)	missense	probably benign	0.21
R4782:Gcm2	UTSW	13	41,256,970 (GRCm39)	missense	possibly damaging	0.66
R4799:Gcm2	UTSW	13	41,256,970 (GRCm39)	missense	possibly damaging	0.66
R5135:Gcm2	UTSW	13	41,256,435 (GRCm39)	missense	probably benign
R5162:Gcm2	UTSW	13	41,257,131 (GRCm39)	missense	probably benign	0.01
R5665:Gcm2	UTSW	13	41,263,387 (GRCm39)	missense	possibly damaging	0.73
R5756:Gcm2	UTSW	13	41,263,372 (GRCm39)	missense	probably damaging	1.00
R5771:Gcm2	UTSW	13	41,256,991 (GRCm39)	missense	probably benign	0.40
R5928:Gcm2	UTSW	13	41,256,874 (GRCm39)	missense	probably benign	0.00
R5977:Gcm2	UTSW	13	41,256,603 (GRCm39)	missense	probably damaging	0.99
R6394:Gcm2	UTSW	13	41,263,373 (GRCm39)	missense	probably damaging	1.00
R6578:Gcm2	UTSW	13	41,259,154 (GRCm39)	missense	probably damaging	1.00
R6798:Gcm2	UTSW	13	41,259,361 (GRCm39)	missense	probably damaging	1.00
R7088:Gcm2	UTSW	13	41,256,840 (GRCm39)	missense	probably damaging	0.98
R7413:Gcm2	UTSW	13	41,259,230 (GRCm39)	missense	probably damaging	1.00
R7456:Gcm2	UTSW	13	41,256,751 (GRCm39)	missense	probably benign	0.02
R8293:Gcm2	UTSW	13	41,256,646 (GRCm39)	missense	probably damaging	1.00
R8738:Gcm2	UTSW	13	41,258,096 (GRCm39)	missense	probably benign	0.41
R9316:Gcm2	UTSW	13	41,259,328 (GRCm39)	missense	probably damaging	1.00
R9799:Gcm2	UTSW	13	41,258,924 (GRCm39)	missense	probably damaging	1.00
Z1088:Gcm2	UTSW	13	41,256,268 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGTCTAACTTCCCTACATATCCGAAG -3'
(R):5'- TTTCAGCACCTCAGCCAATGAC -3'

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

Posted On

2021-12-30