Incidental Mutation 'IGL02087:Lhx2'
| ID |
279300 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lhx2
|
| Ensembl Gene |
ENSMUSG00000000247 |
| Gene Name |
LIM homeobox protein 2 |
| Synonyms |
LH2A, ap, apterous, Lh-2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02087
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
38229293-38259745 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 38258849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114797
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000253]
[ENSMUST00000143783]
|
| AlphaFold |
Q9Z0S2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000253
|
| SMART Domains |
Protein: ENSMUSP00000000253
Gene: ENSMUSG00000000247
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
52 |
105 |
6e-18 |
SMART |
|
LIM
|
114 |
168 |
1.18e-16 |
SMART |
|
low complexity region
|
187 |
206 |
N/A |
INTRINSIC |
|
HOX
|
266 |
328 |
8.07e-22 |
SMART |
|
low complexity region
|
357 |
386 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137134
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143783
|
| SMART Domains |
Protein: ENSMUSP00000114797
Gene: ENSMUSG00000000247
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
11 |
64 |
6e-18 |
SMART |
|
LIM
|
73 |
127 |
1.18e-16 |
SMART |
|
low complexity region
|
146 |
165 |
N/A |
INTRINSIC |
|
HOX
|
225 |
287 |
8.07e-22 |
SMART |
|
low complexity region
|
316 |
345 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to a large protein family, members of which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator. The protein can recapitulate or rescue phenotypes in Drosophila caused by a related protein, suggesting conservation of function during evolution. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality during fetal development and the perinatal period with abnormal liver, telencephalon, olfactory bulb, basal ganglion, and eye morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asl |
C |
T |
5: 130,040,442 (GRCm39) |
W450* |
probably null |
Het |
| Copg1 |
T |
C |
6: 87,879,192 (GRCm39) |
Y413H |
possibly damaging |
Het |
| Ctsll3 |
G |
T |
13: 60,947,423 (GRCm39) |
H254Q |
possibly damaging |
Het |
| Ebf2 |
A |
G |
14: 67,665,545 (GRCm39) |
T568A |
probably benign |
Het |
| Etnppl |
C |
A |
3: 130,420,194 (GRCm39) |
S8R |
probably benign |
Het |
| Fry |
C |
A |
5: 150,327,059 (GRCm39) |
N1248K |
probably benign |
Het |
| Gpr55 |
A |
C |
1: 85,868,969 (GRCm39) |
I204S |
probably damaging |
Het |
| Hyal5 |
T |
A |
6: 24,876,724 (GRCm39) |
M199K |
probably damaging |
Het |
| Ighg2c |
T |
C |
12: 113,248,986 (GRCm39) |
|
probably benign |
Het |
| Itga4 |
A |
G |
2: 79,122,413 (GRCm39) |
D542G |
probably damaging |
Het |
| Itgb2 |
T |
G |
10: 77,395,530 (GRCm39) |
Y544D |
possibly damaging |
Het |
| Lamb2 |
A |
G |
9: 108,364,318 (GRCm39) |
N1086D |
possibly damaging |
Het |
| Nlrp4c |
T |
G |
7: 6,095,582 (GRCm39) |
L820R |
probably damaging |
Het |
| Or5p68 |
T |
A |
7: 107,946,173 (GRCm39) |
H5L |
probably benign |
Het |
| Phf20l1 |
C |
T |
15: 66,500,840 (GRCm39) |
S578F |
probably damaging |
Het |
| Pramel23 |
A |
T |
4: 143,423,644 (GRCm39) |
Y382N |
probably damaging |
Het |
| Ptpn3 |
A |
T |
4: 57,222,019 (GRCm39) |
D557E |
probably damaging |
Het |
| Slc6a6 |
G |
A |
6: 91,712,160 (GRCm39) |
V230I |
probably benign |
Het |
| Stap2 |
T |
C |
17: 56,312,473 (GRCm39) |
H20R |
probably damaging |
Het |
| Sult1c2 |
T |
C |
17: 54,279,068 (GRCm39) |
T83A |
possibly damaging |
Het |
| Tspyl2 |
A |
T |
X: 151,122,103 (GRCm39) |
D501E |
probably damaging |
Het |
| Unc13b |
A |
G |
4: 43,091,270 (GRCm39) |
K32R |
probably null |
Het |
| Wnt3 |
G |
A |
11: 103,703,185 (GRCm39) |
A223T |
probably benign |
Het |
| Zfpm2 |
A |
T |
15: 40,966,517 (GRCm39) |
N869Y |
probably damaging |
Het |
| Zranb1 |
T |
C |
7: 132,575,146 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Lhx2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02243:Lhx2
|
APN |
2 |
38,243,531 (GRCm39) |
splice site |
probably benign |
|
|
IGL02250:Lhx2
|
APN |
2 |
38,244,845 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03306:Lhx2
|
APN |
2 |
38,244,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3700:Lhx2
|
UTSW |
2 |
38,250,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3795:Lhx2
|
UTSW |
2 |
38,243,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4650:Lhx2
|
UTSW |
2 |
38,250,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4732:Lhx2
|
UTSW |
2 |
38,250,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4733:Lhx2
|
UTSW |
2 |
38,250,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5853:Lhx2
|
UTSW |
2 |
38,259,053 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7463:Lhx2
|
UTSW |
2 |
38,241,858 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9089:Lhx2
|
UTSW |
2 |
38,250,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation