Mutagenetix > Incidental Mutation

Incidental Mutation 'R8738:Gcm2'

663185

Institutional Source

Beutler Lab

Gene Symbol

Gcm2

Ensembl Gene

ENSMUSG00000021362

Gene Name

glial cells missing homolog 2

Synonyms

Gcm1-rs2

MMRRC Submission

068585-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.794) question?

Stock #

R8738 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41254903-41264511 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41258096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 177 (R177S)

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: R177S

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000021791
Gene: ENSMUSG00000021362
AA Change: R177S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000225271
AA Change: R177S

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (76/78)

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
4931406C07Rik	G	A	9: 15,196,214 (GRCm39)	T283M	probably damaging	Het
Abca9	A	G	11: 110,056,817 (GRCm39)	M1T	probably null	Het
Ackr1	T	C	1: 173,159,952 (GRCm39)	Y189C	probably damaging	Het
Acsm4	A	G	7: 119,304,264 (GRCm39)	D303G	probably benign	Het
Arfgef2	A	T	2: 166,708,867 (GRCm39)	M1060L	probably benign	Het
Arhgef40	T	A	14: 52,238,414 (GRCm39)	F1298I	probably damaging	Het
Atg2a	T	C	19: 6,306,674 (GRCm39)	I1453T	probably benign	Het
B4galnt1	A	T	10: 127,007,584 (GRCm39)	D495V	probably benign	Het
Brpf3	T	A	17: 29,040,214 (GRCm39)	D878E	probably benign	Het
C3	A	G	17: 57,511,015 (GRCm39)	*1664R	probably null	Het
Cap2	A	G	13: 46,684,548 (GRCm39)	T73A	probably benign	Het
Ccr6	A	T	17: 8,475,394 (GRCm39)	I200F	probably damaging	Het
Cdc42bpb	C	T	12: 111,274,221 (GRCm39)	G1021R	probably benign	Het
Cidea	C	A	18: 67,499,485 (GRCm39)	S124*	probably null	Het
Cnst	C	A	1: 179,420,274 (GRCm39)	T135K	probably benign	Het
Crebbp	A	T	16: 3,936,952 (GRCm39)	M805K	probably benign	Het
Crybb1	A	G	5: 112,411,439 (GRCm39)	Y119C	probably damaging	Het
Cux1	G	T	5: 136,402,220 (GRCm39)	T121K	probably damaging	Het
Dnah11	A	T	12: 118,049,384 (GRCm39)		probably null	Het
Dnmbp	T	C	19: 43,900,677 (GRCm39)	T48A	probably damaging	Het
Dysf	G	A	6: 84,171,353 (GRCm39)	G1787E	probably damaging	Het
Gdf6	G	T	4: 9,859,429 (GRCm39)	R170S	probably damaging	Het
Gm16686	A	T	4: 88,673,775 (GRCm39)	M18K	unknown	Het
Gm36864	C	T	7: 43,886,304 (GRCm39)	Q179*	probably null	Het
Golgb1	A	G	16: 36,736,675 (GRCm39)	D2015G	probably damaging	Het
Gtf2i	A	G	5: 134,324,374 (GRCm39)	L30P	probably damaging	Het
Herc2	A	G	7: 55,798,402 (GRCm39)	E1955G	possibly damaging	Het
Hes3	A	T	4: 152,372,132 (GRCm39)	D37E	probably damaging	Het
Igha	A	G	12: 113,223,144 (GRCm39)	V161A	probably damaging	Het
Isl2	T	G	9: 55,452,722 (GRCm39)	S327A	probably benign	Het
Itk	A	G	11: 46,231,539 (GRCm39)	L339P	probably damaging	Het
Kcnb2	T	C	1: 15,780,648 (GRCm39)	S507P	probably benign	Het
Lgals4	C	T	7: 28,540,921 (GRCm39)	R282C	probably damaging	Het
Lhfpl4	C	A	6: 113,171,034 (GRCm39)	V51L	possibly damaging	Het
Lhpp	A	G	7: 132,243,261 (GRCm39)	Y159C	probably damaging	Het
Lrwd1	C	A	5: 136,162,257 (GRCm39)	E159*	probably null	Het
Map3k13	A	G	16: 21,745,008 (GRCm39)	T856A	probably damaging	Het
Mcm8	A	G	2: 132,665,141 (GRCm39)	T206A	probably benign	Het
Megf6	A	G	4: 154,352,436 (GRCm39)	K1265R	probably benign	Het
Mrgprb2	A	G	7: 48,202,648 (GRCm39)	Y26H	probably benign	Het
Mug1	T	C	6: 121,817,208 (GRCm39)		probably benign	Het
Mysm1	C	T	4: 94,856,196 (GRCm39)	G134S	probably damaging	Het
Nlrp3	A	C	11: 59,440,216 (GRCm39)	I598L	probably benign	Het
Npas2	A	T	1: 39,331,797 (GRCm39)	I71F	possibly damaging	Het
Nr1h5	A	G	3: 102,862,015 (GRCm39)	S85P	probably benign	Het
Nrcam	T	A	12: 44,619,075 (GRCm39)	V868D	possibly damaging	Het
Oas1a	A	G	5: 121,040,019 (GRCm39)	F191L	probably damaging	Het
Or14j8	A	T	17: 38,263,673 (GRCm39)	Y81N	possibly damaging	Het
Orc3	A	T	4: 34,599,778 (GRCm39)	L125H	possibly damaging	Het
Osbpl7	A	G	11: 96,946,903 (GRCm39)	E402G	possibly damaging	Het
Otof	G	A	5: 30,545,968 (GRCm39)	Q462*	probably null	Het
Phlda2	A	C	7: 143,055,959 (GRCm39)	I90S	probably damaging	Het
Plin3	C	T	17: 56,593,490 (GRCm39)	V75I	probably benign	Het
Pms1	A	T	1: 53,321,195 (GRCm39)	S13T	possibly damaging	Het
Ppm1d	A	G	11: 85,236,732 (GRCm39)	K504E	probably damaging	Het
Rflna	A	T	5: 125,087,541 (GRCm39)	I93F	probably damaging	Het
Rnpc3	T	A	3: 113,414,805 (GRCm39)	M193L	probably benign	Het
Sema3e	A	T	5: 14,214,169 (GRCm39)	I145F	possibly damaging	Het
Serpinb1b	C	A	13: 33,271,500 (GRCm39)	N90K	probably damaging	Het
Sfswap	A	G	5: 129,620,345 (GRCm39)	D538G	possibly damaging	Het
Snx14	A	T	9: 88,289,453 (GRCm39)	D266E	possibly damaging	Het
Stat4	C	T	1: 52,115,711 (GRCm39)	T217M	possibly damaging	Het
Taf13	T	C	3: 108,485,444 (GRCm39)	M40T	probably damaging	Het
Tenm4	A	G	7: 96,523,047 (GRCm39)	T1530A	probably damaging	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tnfrsf14	T	C	4: 155,007,710 (GRCm39)	I220M	possibly damaging	Het
Tnk2	T	C	16: 32,484,718 (GRCm39)	W60R	probably damaging	Het
Tph2	A	T	10: 115,015,614 (GRCm39)		probably benign	Het
Unc13b	A	T	4: 43,177,564 (GRCm39)	K2797N	unknown	Het
Upf1	C	G	8: 70,785,973 (GRCm39)	M995I	probably benign	Het
Upf1	G	A	8: 70,785,972 (GRCm39)	P996S	probably benign	Het
Vcan	C	T	13: 89,840,439 (GRCm39)	V1702M	probably benign	Het
Vmn2r57	T	C	7: 41,077,020 (GRCm39)	D382G	probably benign	Het
Xxylt1	C	T	16: 30,899,964 (GRCm39)	A64T	probably benign	Het
Zcchc8	A	G	5: 123,841,070 (GRCm39)	S407P	probably damaging	Het
Zdhhc19	T	A	16: 32,317,187 (GRCm39)	F109Y	probably damaging	Het
Zfp638	T	C	6: 83,931,745 (GRCm39)		probably null	Het
Zfp691	A	G	4: 119,027,861 (GRCm39)	S124P	probably damaging	Het
Zfp804a	T	A	2: 82,089,450 (GRCm39)	V1093D	probably damaging	Het
Zfp986	A	C	4: 145,625,550 (GRCm39)	Q70P	probably benign	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
R9087:Gcm2	UTSW	13	41,263,406 (GRCm39)	missense
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'- TGGTTCAACGATGTTTGCTAGAAG -3'
(R):5'- GGGTTGCCAGCTAGTTTCTAAG -3'

Sequencing Primer
(F):5'- AGTGAACACAGACCTCTG -3'
(R):5'- CTGGAACTCACTATGTAGCCTAGG -3'

Posted On

2021-03-08