Incidental Mutation 'IGL02562:Meis2'
| ID |
298684 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Meis2
|
| Ensembl Gene |
ENSMUSG00000027210 |
| Gene Name |
Meis homeobox 2 |
| Synonyms |
Mrg1, Meis2, A430109D20Rik, Stra10 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.854)
|
| Stock # |
IGL02562
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
115693545-115896320 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 115879627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 231
(G231V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106532
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028639]
[ENSMUST00000074285]
[ENSMUST00000102538]
[ENSMUST00000110906]
[ENSMUST00000110907]
[ENSMUST00000110908]
|
| AlphaFold |
P97367 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028639
AA Change: G231V
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000028639
Gene: ENSMUSG00000027210
AA Change: G231V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Meis_PKNOX_N
|
110 |
194 |
3.8e-48 |
PFAM |
|
HOX
|
276 |
341 |
4.27e-12 |
SMART |
|
low complexity region
|
395 |
402 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074285
AA Change: G230V
PolyPhen 2
Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000073898
Gene: ENSMUSG00000027210
AA Change: G230V
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
275 |
340 |
4.27e-12 |
SMART |
|
low complexity region
|
375 |
388 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102538
AA Change: G231V
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099597
Gene: ENSMUSG00000027210
AA Change: G231V
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
276 |
341 |
4.27e-12 |
SMART |
|
low complexity region
|
388 |
395 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110906
AA Change: G230V
PolyPhen 2
Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106531
Gene: ENSMUSG00000027210
AA Change: G230V
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
275 |
340 |
4.27e-12 |
SMART |
|
low complexity region
|
382 |
395 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110907
AA Change: G231V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106532
Gene: ENSMUSG00000027210
AA Change: G231V
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
276 |
341 |
4.27e-12 |
SMART |
|
low complexity region
|
383 |
396 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110908
AA Change: G231V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000106533
Gene: ENSMUSG00000027210
AA Change: G231V
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
276 |
341 |
4.27e-12 |
SMART |
|
low complexity region
|
376 |
389 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133990
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135543
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138526
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134314
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140461
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154671
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a homeobox protein belonging to the TALE ('three amino acid loop extension') family of homeodomain-containing proteins. TALE homeobox proteins are highly conserved transcriptional regulators and several members have been shown to be essential contributors to developmental programs. In mice, a knock-out of this gene leads to lethality at embryonic day 14, accompanied with hemorrhaging. Embryos lacking this gene show defects in tissues derived from the neural crest, suggesting a critical role of this gene during cranial and cardiac neural crest cell development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a null allele display early fetal lethality with hemorrhaging, persistent truncus arteriosis, absence of cardic valves and defects in other neural crest cell derived tissues. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
T |
C |
3: 151,144,949 (GRCm39) |
C33R |
probably damaging |
Het |
| Aifm3 |
A |
G |
16: 17,324,126 (GRCm39) |
N562S |
probably benign |
Het |
| Akap14 |
G |
A |
X: 36,427,441 (GRCm39) |
T98M |
possibly damaging |
Het |
| Atp7b |
T |
G |
8: 22,518,101 (GRCm39) |
T234P |
probably benign |
Het |
| Atp8b1 |
T |
A |
18: 64,715,057 (GRCm39) |
Q65L |
probably benign |
Het |
| Bclaf3 |
T |
C |
X: 158,349,434 (GRCm39) |
S600P |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Col4a5 |
A |
G |
X: 140,439,671 (GRCm39) |
|
probably benign |
Het |
| Gigyf2 |
A |
G |
1: 87,335,097 (GRCm39) |
D120G |
probably benign |
Het |
| Gm4953 |
A |
T |
1: 158,996,077 (GRCm39) |
|
noncoding transcript |
Het |
| Hip1r |
G |
T |
5: 124,129,586 (GRCm39) |
|
probably benign |
Het |
| Itga2 |
A |
G |
13: 114,973,106 (GRCm39) |
|
probably benign |
Het |
| Itga3 |
T |
C |
11: 94,959,619 (GRCm39) |
T85A |
probably benign |
Het |
| Loxl1 |
A |
G |
9: 58,196,199 (GRCm39) |
S607P |
probably damaging |
Het |
| Marchf2 |
G |
A |
17: 33,915,048 (GRCm39) |
T182I |
probably damaging |
Het |
| Mbd1 |
T |
C |
18: 74,409,993 (GRCm39) |
S386P |
probably benign |
Het |
| Myo1h |
A |
G |
5: 114,496,053 (GRCm39) |
K774E |
probably benign |
Het |
| Or10a2 |
C |
A |
7: 106,673,769 (GRCm39) |
H245N |
probably benign |
Het |
| Or1e26 |
T |
C |
11: 73,480,237 (GRCm39) |
N109S |
probably benign |
Het |
| Or2l5 |
A |
T |
16: 19,333,714 (GRCm39) |
I224N |
possibly damaging |
Het |
| Or51ag1 |
G |
T |
7: 103,155,423 (GRCm39) |
C243* |
probably null |
Het |
| Or8u9 |
T |
G |
2: 86,001,384 (GRCm39) |
Y259S |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,778,405 (GRCm39) |
D1813E |
probably damaging |
Het |
| Pdcl2 |
A |
G |
5: 76,467,038 (GRCm39) |
Y52H |
probably damaging |
Het |
| Piezo1 |
T |
C |
8: 123,223,502 (GRCm39) |
T816A |
probably benign |
Het |
| Ptpn13 |
T |
G |
5: 103,710,157 (GRCm39) |
L1564R |
probably damaging |
Het |
| Pwwp3a |
A |
G |
10: 80,074,729 (GRCm39) |
D438G |
probably damaging |
Het |
| S2bpcox16 |
T |
C |
12: 81,557,616 (GRCm39) |
D63G |
probably damaging |
Het |
| Slc7a2 |
T |
A |
8: 41,368,057 (GRCm39) |
M607K |
probably damaging |
Het |
| Snrpa |
T |
A |
7: 26,891,123 (GRCm39) |
K116M |
probably damaging |
Het |
| Spon1 |
A |
G |
7: 113,635,996 (GRCm39) |
S737G |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Sspo |
A |
G |
6: 48,467,056 (GRCm39) |
|
probably null |
Het |
| Tubb4a |
C |
A |
17: 57,388,163 (GRCm39) |
E288* |
probably null |
Het |
| Vmn2r87 |
A |
T |
10: 130,314,513 (GRCm39) |
C358S |
probably damaging |
Het |
|
| Other mutations in Meis2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00590:Meis2
|
APN |
2 |
115,699,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00708:Meis2
|
APN |
2 |
115,694,725 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01095:Meis2
|
APN |
2 |
115,694,905 (GRCm39) |
missense |
probably benign |
|
|
IGL02199:Meis2
|
APN |
2 |
115,830,737 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02902:Meis2
|
APN |
2 |
115,893,804 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03183:Meis2
|
APN |
2 |
115,890,002 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03205:Meis2
|
APN |
2 |
115,694,731 (GRCm39) |
missense |
probably benign |
0.08 |
|
P4748:Meis2
|
UTSW |
2 |
115,694,961 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0369:Meis2
|
UTSW |
2 |
115,893,897 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0410:Meis2
|
UTSW |
2 |
115,694,709 (GRCm39) |
makesense |
probably null |
|
|
R1465:Meis2
|
UTSW |
2 |
115,889,151 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1465:Meis2
|
UTSW |
2 |
115,889,151 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1548:Meis2
|
UTSW |
2 |
115,889,183 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1593:Meis2
|
UTSW |
2 |
115,830,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3835:Meis2
|
UTSW |
2 |
115,752,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4353:Meis2
|
UTSW |
2 |
115,890,044 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4756:Meis2
|
UTSW |
2 |
115,830,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4936:Meis2
|
UTSW |
2 |
115,694,893 (GRCm39) |
missense |
probably benign |
|
|
R5841:Meis2
|
UTSW |
2 |
115,889,145 (GRCm39) |
missense |
probably benign |
|
|
R5967:Meis2
|
UTSW |
2 |
115,694,790 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6661:Meis2
|
UTSW |
2 |
115,694,751 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6781:Meis2
|
UTSW |
2 |
115,879,636 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7239:Meis2
|
UTSW |
2 |
115,889,484 (GRCm39) |
splice site |
probably null |
|
|
R7606:Meis2
|
UTSW |
2 |
115,893,801 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7919:Meis2
|
UTSW |
2 |
115,697,788 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8134:Meis2
|
UTSW |
2 |
115,697,369 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8797:Meis2
|
UTSW |
2 |
115,694,986 (GRCm39) |
missense |
probably benign |
|
|
R8881:Meis2
|
UTSW |
2 |
115,889,116 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9102:Meis2
|
UTSW |
2 |
115,694,760 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9153:Meis2
|
UTSW |
2 |
115,697,756 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9497:Meis2
|
UTSW |
2 |
115,694,724 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2015-04-16 |
Incidental Mutation