Incidental Mutation 'R6578:Gcm2'
| ID |
523893 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gcm2
|
| Ensembl Gene |
ENSMUSG00000021362 |
| Gene Name |
glial cells missing homolog 2 |
| Synonyms |
Gcm1-rs2 |
| MMRRC Submission |
044702-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.735)
|
| Stock # |
R6578 (G1)
|
| Quality Score |
206.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
41254903-41264511 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41259154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 105
(I105T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153244
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021791]
[ENSMUST00000225271]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021791
AA Change: I105T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021791
Gene: ENSMUSG00000021362
AA Change: I105T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GCM
|
35 |
172 |
4.8e-74 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225271
AA Change: I105T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225420
|
| Meta Mutation Damage Score |
0.5946 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 96.8%
- 20x: 89.4%
|
| Validation Efficiency |
97% (37/38) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
G |
A |
6: 146,854,812 (GRCm39) |
R77* |
probably null |
Het |
| Aldh9a1 |
A |
G |
1: 167,183,328 (GRCm39) |
Y182C |
probably damaging |
Het |
| Alpk3 |
T |
A |
7: 80,728,432 (GRCm39) |
S521T |
probably benign |
Het |
| Ankzf1 |
A |
G |
1: 75,174,401 (GRCm39) |
R464G |
possibly damaging |
Het |
| Baz2b |
T |
C |
2: 59,799,623 (GRCm39) |
E232G |
possibly damaging |
Het |
| Bbs2 |
T |
C |
8: 94,803,669 (GRCm39) |
S524G |
probably null |
Het |
| Casp1 |
A |
G |
9: 5,304,280 (GRCm39) |
K318R |
probably benign |
Het |
| Clock |
T |
A |
5: 76,364,556 (GRCm39) |
Q853L |
unknown |
Het |
| Clstn3 |
A |
G |
6: 124,427,663 (GRCm39) |
|
probably null |
Het |
| Ebpl |
A |
C |
14: 61,597,769 (GRCm39) |
V24G |
probably benign |
Het |
| Erbb2 |
T |
C |
11: 98,319,014 (GRCm39) |
C568R |
probably damaging |
Het |
| Gm7145 |
C |
T |
1: 117,913,525 (GRCm39) |
P136S |
probably damaging |
Het |
| Helb |
G |
T |
10: 119,947,086 (GRCm39) |
R76S |
probably damaging |
Het |
| Hipk4 |
T |
C |
7: 27,227,812 (GRCm39) |
I186T |
probably damaging |
Het |
| Igdcc3 |
A |
G |
9: 65,089,301 (GRCm39) |
D499G |
probably damaging |
Het |
| Krt26 |
T |
A |
11: 99,225,628 (GRCm39) |
Q284H |
probably damaging |
Het |
| Lama4 |
T |
C |
10: 38,893,361 (GRCm39) |
I156T |
probably benign |
Het |
| Mical2 |
T |
A |
7: 111,910,652 (GRCm39) |
F274Y |
probably damaging |
Het |
| Mug1 |
A |
T |
6: 121,864,411 (GRCm39) |
Q1436L |
probably benign |
Het |
| Nin |
A |
G |
12: 70,107,968 (GRCm39) |
V208A |
probably damaging |
Het |
| Or4p20 |
T |
C |
2: 88,253,488 (GRCm39) |
S294G |
probably benign |
Het |
| Pappa |
T |
A |
4: 65,074,374 (GRCm39) |
N309K |
possibly damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,099,520 (GRCm39) |
V873A |
probably benign |
Het |
| Phf14 |
G |
A |
6: 11,991,996 (GRCm39) |
C724Y |
probably damaging |
Het |
| Pik3r2 |
T |
G |
8: 71,225,283 (GRCm39) |
I127L |
probably benign |
Het |
| Polr1a |
T |
A |
6: 71,953,025 (GRCm39) |
M1531K |
possibly damaging |
Het |
| Pwwp2b |
T |
C |
7: 138,836,028 (GRCm39) |
C490R |
probably damaging |
Het |
| Rax |
T |
C |
18: 66,071,738 (GRCm39) |
T50A |
probably benign |
Het |
| Rbm28 |
A |
T |
6: 29,137,639 (GRCm39) |
I438N |
probably damaging |
Het |
| Sema4c |
C |
T |
1: 36,589,834 (GRCm39) |
V507I |
probably benign |
Het |
| Skint8 |
C |
T |
4: 111,794,159 (GRCm39) |
T183I |
probably benign |
Het |
| Spata16 |
C |
T |
3: 26,721,697 (GRCm39) |
Q73* |
probably null |
Het |
| Sync |
T |
C |
4: 129,188,060 (GRCm39) |
L364P |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,355,454 (GRCm39) |
K376* |
probably null |
Het |
| Tanc1 |
C |
T |
2: 59,626,298 (GRCm39) |
R552C |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,939,852 (GRCm39) |
I399V |
possibly damaging |
Het |
| Vps13b |
T |
C |
15: 35,446,247 (GRCm39) |
C455R |
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 |
|
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 |
|
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'- TCCAAAGGTGAGTGACAGTTG -3'
(R):5'- TTTGACCACTTCCGGGAGTG -3'
Sequencing Primer
(F):5'- GGGGCAAGCTTTCTCTGCAAAC -3'
(R):5'- GATGGCTACGTGCGCTTCATC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation