Mutagenetix > Incidental Mutation

Incidental Mutation 'R5665:Gcm2'

444370

Institutional Source

Beutler Lab

Gene Symbol

Gcm2

Ensembl Gene

ENSMUSG00000021362

Gene Name

glial cells missing homolog 2

Synonyms

Gcm1-rs2

MMRRC Submission

043308-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.748) question?

Stock #

R5665 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41101427-41111035 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41109911 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 15 (Y15F)

Ref Sequence

ENSEMBL: ENSMUSP00000021791 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021791
AA Change: Y15F

PolyPhen 2 Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000021791
Gene: ENSMUSG00000021362
AA Change: Y15F

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: Y15F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225420

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349 (GRCm38)	V173M	probably damaging	Het
Acaca	G	T	11: 84,245,294 (GRCm38)	E492*	probably null	Het
Acp7	T	A	7: 28,616,543 (GRCm38)	K206M	probably benign	Het
Agbl1	T	A	7: 76,589,503 (GRCm38)	F584I	probably damaging	Het
Ahi1	A	G	10: 21,055,047 (GRCm38)	I929V	possibly damaging	Het
Ank3	G	A	10: 70,002,565 (GRCm38)	R1566K	possibly damaging	Het
Arhgef40	A	G	14: 52,000,900 (GRCm38)	I1279V	possibly damaging	Het
Arl14	A	C	3: 69,223,038 (GRCm38)	T173P	probably damaging	Het
Asap1	A	G	15: 64,312,453 (GRCm38)	S44P	probably damaging	Het
Btbd7	C	A	12: 102,785,197 (GRCm38)	A1103S	probably benign	Het
Capn10	T	A	1: 92,937,931 (GRCm38)		probably null	Het
Capn7	T	C	14: 31,369,802 (GRCm38)	F719L	probably benign	Het
Casp7	G	A	19: 56,440,982 (GRCm38)	D267N	probably benign	Het
Ccdc13	C	A	9: 121,814,290 (GRCm38)	K348N	probably damaging	Het
Chchd1	T	C	14: 20,703,110 (GRCm38)	F13L	probably benign	Het
Clcn6	T	A	4: 148,014,561 (GRCm38)	M442L	possibly damaging	Het
Col6a3	T	C	1: 90,827,880 (GRCm38)	E229G	probably benign	Het
Cyb5r3	A	G	15: 83,154,554 (GRCm38)	F278S	probably damaging	Het
Dhx16	C	T	17: 35,891,086 (GRCm38)	Q1002*	probably null	Het
Dppa4	T	C	16: 48,291,015 (GRCm38)	L121P	probably benign	Het
Dpyd	A	G	3: 118,917,092 (GRCm38)	E383G	probably damaging	Het
Eif4g3	A	G	4: 138,126,589 (GRCm38)	T489A	probably benign	Het
Elovl1	G	T	4: 118,431,635 (GRCm38)	V174L	probably damaging	Het
Elp3	T	C	14: 65,551,402 (GRCm38)	K392E	possibly damaging	Het
Fancd2os	C	A	6: 113,598,024 (GRCm38)	W7L	probably damaging	Het
Fchsd2	A	G	7: 101,110,784 (GRCm38)	T23A	possibly damaging	Het
Gabrp	C	G	11: 33,554,308 (GRCm38)	A336P	possibly damaging	Het
Gpr132	G	A	12: 112,852,796 (GRCm38)	R137C	probably damaging	Het
Herc1	A	G	9: 66,465,435 (GRCm38)	E3091G	probably damaging	Het
Homer1	A	T	13: 93,356,102 (GRCm38)	M184L	probably benign	Het
Izumo1r	T	C	9: 14,900,849 (GRCm38)	E117G	probably damaging	Het
Kcnt1	C	T	2: 25,901,909 (GRCm38)	Q590*	probably null	Het
Lama1	G	T	17: 67,770,987 (GRCm38)	C1139F	probably damaging	Het
Med29	C	T	7: 28,386,814 (GRCm38)	A190T	probably benign	Het
Mgea5	A	C	19: 45,776,997 (GRCm38)	S124A	probably benign	Het
Muc4	T	C	16: 32,750,782 (GRCm38)	V220A	probably benign	Het
Mxra8	G	T	4: 155,842,921 (GRCm38)	V388L	probably benign	Het
Myo5a	T	C	9: 75,144,181 (GRCm38)		probably null	Het
Myrip	A	G	9: 120,461,433 (GRCm38)	Y706C	probably damaging	Het
Nphp4	T	C	4: 152,506,485 (GRCm38)	V313A	probably benign	Het
Olfm2	T	G	9: 20,668,544 (GRCm38)		probably null	Het
Olfr1113	T	A	2: 87,213,728 (GRCm38)	S279T	probably benign	Het
Olfr248	T	C	1: 174,391,375 (GRCm38)	F102S	probably damaging	Het
Pcdh15	C	T	10: 74,626,788 (GRCm38)	P1398L	probably damaging	Het
Pdpr	A	G	8: 111,114,811 (GRCm38)	E225G	possibly damaging	Het
Pigs	C	A	11: 78,328,769 (GRCm38)		probably null	Het
Pkhd1	T	A	1: 20,588,531 (GRCm38)	T159S	probably damaging	Het
Plk4	A	G	3: 40,813,586 (GRCm38)	T87A	possibly damaging	Het
Plxna4	T	C	6: 32,215,722 (GRCm38)	Y768C	probably damaging	Het
Prl3d3	T	A	13: 27,159,081 (GRCm38)		probably null	Het
Pygb	T	C	2: 150,820,888 (GRCm38)		probably null	Het
Rnf114	T	C	2: 167,510,934 (GRCm38)	I118T	possibly damaging	Het
Sbno2	A	G	10: 80,058,453 (GRCm38)	L1099P	probably benign	Het
Scaper	T	C	9: 55,807,632 (GRCm38)	K791E	probably damaging	Het
Serping1	T	C	2: 84,771,545 (GRCm38)	T194A	probably damaging	Het
Slc12a9	A	G	5: 137,321,403 (GRCm38)	S617P	possibly damaging	Het
Slk	G	A	19: 47,636,457 (GRCm38)	R1039H	probably damaging	Het
Sntb1	T	A	15: 55,792,139 (GRCm38)	E227V	probably benign	Het
Sostdc1	C	A	12: 36,314,408 (GRCm38)	P39T	probably benign	Het
Spred1	C	T	2: 117,153,005 (GRCm38)	R16*	probably null	Het
Srpk2	A	G	5: 23,518,477 (GRCm38)	I547T	probably damaging	Het
Stt3a	A	G	9: 36,759,314 (GRCm38)	Y54H	probably damaging	Het
Stt3b	A	T	9: 115,266,147 (GRCm38)	L272H	probably damaging	Het
Syne2	T	A	12: 76,108,217 (GRCm38)		probably null	Het
Uso1	A	T	5: 92,198,337 (GRCm38)	E793V	possibly damaging	Het
Usp15	A	T	10: 123,130,987 (GRCm38)	L476*	probably null	Het
Vmn1r189	T	C	13: 22,102,166 (GRCm38)	Y167C	probably damaging	Het
Vmn2r24	A	G	6: 123,786,979 (GRCm38)	T272A	possibly damaging	Het
Vps13a	A	T	19: 16,668,690 (GRCm38)	H1994Q	probably damaging	Het
Zbtb10	T	C	3: 9,265,192 (GRCm38)	S537P	probably damaging	Het
Zbtb12	T	C	17: 34,895,883 (GRCm38)	S215P	possibly damaging	Het
Zfp346	T	C	13: 55,113,102 (GRCm38)	M81T	probably benign	Het
Zfp800	T	C	6: 28,244,513 (GRCm38)	D151G	probably null	Het

Other mutations in Gcm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01312:Gcm2	APN	13	41,103,131 (GRCm38)	missense	probably damaging	1.00
IGL01476:Gcm2	APN	13	41,105,741 (GRCm38)	missense	probably damaging	1.00
IGL02034:Gcm2	APN	13	41,105,793 (GRCm38)	missense	probably damaging	1.00
IGL02186:Gcm2	APN	13	41,104,649 (GRCm38)	missense	possibly damaging	0.93
IGL02456:Gcm2	APN	13	41,103,001 (GRCm38)	missense	probably benign	0.01
IGL03142:Gcm2	APN	13	41,103,235 (GRCm38)	missense	probably benign	0.01
IGL03184:Gcm2	APN	13	41,105,412 (GRCm38)	missense	probably damaging	1.00
PIT4403001:Gcm2	UTSW	13	41,102,839 (GRCm38)	missense	probably benign	0.01
R0227:Gcm2	UTSW	13	41,105,856 (GRCm38)	missense	probably damaging	0.99
R1061:Gcm2	UTSW	13	41,105,871 (GRCm38)	missense	probably damaging	1.00
R1813:Gcm2	UTSW	13	41,105,891 (GRCm38)	missense	probably benign	0.19
R2057:Gcm2	UTSW	13	41,109,954 (GRCm38)	start codon destroyed	probably null	0.28
R2058:Gcm2	UTSW	13	41,109,954 (GRCm38)	start codon destroyed	probably null	0.28
R2059:Gcm2	UTSW	13	41,109,954 (GRCm38)	start codon destroyed	probably null	0.28
R2351:Gcm2	UTSW	13	41,103,618 (GRCm38)	missense	probably benign	0.02
R4653:Gcm2	UTSW	13	41,102,841 (GRCm38)	missense	probably benign	0.21
R4782:Gcm2	UTSW	13	41,103,494 (GRCm38)	missense	possibly damaging	0.66
R4799:Gcm2	UTSW	13	41,103,494 (GRCm38)	missense	possibly damaging	0.66
R5135:Gcm2	UTSW	13	41,102,959 (GRCm38)	missense	probably benign
R5162:Gcm2	UTSW	13	41,103,655 (GRCm38)	missense	probably benign	0.01
R5756:Gcm2	UTSW	13	41,109,896 (GRCm38)	missense	probably damaging	1.00
R5771:Gcm2	UTSW	13	41,103,515 (GRCm38)	missense	probably benign	0.40
R5928:Gcm2	UTSW	13	41,103,398 (GRCm38)	missense	probably benign	0.00
R5977:Gcm2	UTSW	13	41,103,127 (GRCm38)	missense	probably damaging	0.99
R6394:Gcm2	UTSW	13	41,109,897 (GRCm38)	missense	probably damaging	1.00
R6578:Gcm2	UTSW	13	41,105,678 (GRCm38)	missense	probably damaging	1.00
R6798:Gcm2	UTSW	13	41,105,885 (GRCm38)	missense	probably damaging	1.00
R7088:Gcm2	UTSW	13	41,103,364 (GRCm38)	missense	probably damaging	0.98
R7413:Gcm2	UTSW	13	41,105,754 (GRCm38)	missense	probably damaging	1.00
R7456:Gcm2	UTSW	13	41,103,275 (GRCm38)	missense	probably benign	0.02
R8293:Gcm2	UTSW	13	41,103,170 (GRCm38)	missense	probably damaging	1.00
R8738:Gcm2	UTSW	13	41,104,620 (GRCm38)	missense	probably benign	0.41
R9087:Gcm2	UTSW	13	41,109,930 (GRCm38)	missense
R9316:Gcm2	UTSW	13	41,105,852 (GRCm38)	missense	probably damaging	1.00
R9799:Gcm2	UTSW	13	41,105,448 (GRCm38)	missense	probably damaging	1.00
Z1088:Gcm2	UTSW	13	41,102,792 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

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

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

Posted On

2016-11-09