Incidental Mutation 'R0369:Meis2'
| ID |
65591 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Meis2
|
| Ensembl Gene |
ENSMUSG00000027210 |
| Gene Name |
Meis homeobox 2 |
| Synonyms |
Mrg1, Meis2, A430109D20Rik, Stra10 |
| MMRRC Submission |
038575-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.860)
|
| Stock # |
R0369 (G1)
|
| Quality Score |
153 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
115693545-115896320 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 115893897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 5
(D5G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106531
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028639]
[ENSMUST00000074285]
[ENSMUST00000102538]
[ENSMUST00000110906]
[ENSMUST00000110907]
[ENSMUST00000110908]
|
| AlphaFold |
P97367 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028639
AA Change: D6G
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000028639
Gene: ENSMUSG00000027210
AA Change: D6G
| 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 |
probably benign
Transcript: ENSMUST00000074285
AA Change: D5G
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000073898
Gene: ENSMUSG00000027210
AA Change: D5G
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
275 |
340 |
4.27e-12 |
SMART |
|
low complexity region
|
375 |
388 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102538
AA Change: D6G
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099597
Gene: ENSMUSG00000027210
AA Change: D6G
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
276 |
341 |
4.27e-12 |
SMART |
|
low complexity region
|
388 |
395 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110906
AA Change: D5G
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106531
Gene: ENSMUSG00000027210
AA Change: D5G
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
275 |
340 |
4.27e-12 |
SMART |
|
low complexity region
|
382 |
395 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110907
AA Change: D6G
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000106532
Gene: ENSMUSG00000027210
AA Change: D6G
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
276 |
341 |
4.27e-12 |
SMART |
|
low complexity region
|
383 |
396 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110908
AA Change: D6G
PolyPhen 2
Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000106533
Gene: ENSMUSG00000027210
AA Change: D6G
| 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: ENSMUST00000140185
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134314
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140461
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152412
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156095
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138526
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 94.8%
- 20x: 87.0%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921528I07Rik |
G |
A |
9: 114,129,077 (GRCm39) |
|
noncoding transcript |
Het |
| Aadacl2 |
T |
A |
3: 59,932,143 (GRCm39) |
Y219* |
probably null |
Het |
| Adamts13 |
C |
A |
2: 26,895,198 (GRCm39) |
D1096E |
probably benign |
Het |
| Adamts16 |
T |
G |
13: 70,927,671 (GRCm39) |
K523Q |
possibly damaging |
Het |
| Adcy2 |
A |
G |
13: 68,820,019 (GRCm39) |
F740S |
probably benign |
Het |
| Carmil1 |
T |
A |
13: 24,266,003 (GRCm39) |
N253I |
probably damaging |
Het |
| Ccdc97 |
T |
C |
7: 25,413,833 (GRCm39) |
T283A |
probably damaging |
Het |
| Cmpk2 |
G |
T |
12: 26,527,150 (GRCm39) |
E380* |
probably null |
Het |
| Csmd3 |
A |
G |
15: 47,833,543 (GRCm39) |
I911T |
probably damaging |
Het |
| Cyp2c39 |
T |
C |
19: 39,502,079 (GRCm39) |
L156P |
probably damaging |
Het |
| D7Ertd443e |
T |
C |
7: 133,899,866 (GRCm39) |
I499V |
possibly damaging |
Het |
| Dhx58 |
A |
C |
11: 100,592,374 (GRCm39) |
|
probably null |
Het |
| Dip2a |
C |
T |
10: 76,134,621 (GRCm39) |
G390S |
probably damaging |
Het |
| Dusp10 |
A |
G |
1: 183,801,253 (GRCm39) |
D340G |
probably damaging |
Het |
| Epha1 |
A |
T |
6: 42,342,407 (GRCm39) |
C314S |
probably damaging |
Het |
| Exph5 |
A |
T |
9: 53,284,602 (GRCm39) |
H561L |
probably benign |
Het |
| Fbxw26 |
A |
G |
9: 109,552,780 (GRCm39) |
|
probably null |
Het |
| Foxc1 |
A |
C |
13: 31,991,495 (GRCm39) |
N102T |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,814,908 (GRCm39) |
I3547T |
probably benign |
Het |
| Gm5464 |
G |
T |
14: 67,106,774 (GRCm39) |
|
probably benign |
Het |
| Gnptab |
C |
T |
10: 88,269,456 (GRCm39) |
R720C |
possibly damaging |
Het |
| Greb1l |
T |
C |
18: 10,469,375 (GRCm39) |
V130A |
possibly damaging |
Het |
| Hmg20a |
A |
T |
9: 56,394,934 (GRCm39) |
D216V |
probably damaging |
Het |
| Hnrnpul2 |
C |
A |
19: 8,801,777 (GRCm39) |
D328E |
probably damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,410,985 (GRCm39) |
Y1691C |
probably damaging |
Het |
| Kremen2 |
T |
C |
17: 23,961,784 (GRCm39) |
D241G |
probably benign |
Het |
| Mrps5 |
G |
A |
2: 127,433,749 (GRCm39) |
R46K |
probably benign |
Het |
| Myh14 |
C |
T |
7: 44,310,374 (GRCm39) |
V170M |
probably damaging |
Het |
| Nexn |
T |
C |
3: 151,953,894 (GRCm39) |
N123D |
probably benign |
Het |
| Or11g26 |
T |
A |
14: 50,753,282 (GRCm39) |
M207K |
probably benign |
Het |
| Or4d11 |
A |
T |
19: 12,013,765 (GRCm39) |
S114T |
probably benign |
Het |
| Or51l14 |
T |
A |
7: 103,101,423 (GRCm39) |
I293N |
probably damaging |
Het |
| Pacs1 |
C |
T |
19: 5,191,726 (GRCm39) |
V704M |
probably damaging |
Het |
| Papolg |
A |
G |
11: 23,822,425 (GRCm39) |
|
probably null |
Het |
| Pdlim3 |
T |
C |
8: 46,370,543 (GRCm39) |
V281A |
probably benign |
Het |
| Plpp4 |
T |
G |
7: 128,925,190 (GRCm39) |
F142V |
probably damaging |
Het |
| Prb1a |
G |
A |
6: 132,184,620 (GRCm39) |
Q338* |
probably null |
Het |
| Psg26 |
G |
T |
7: 18,216,481 (GRCm39) |
Y119* |
probably null |
Het |
| Ptger4 |
A |
G |
15: 5,272,491 (GRCm39) |
C68R |
probably benign |
Het |
| Ptpre |
T |
A |
7: 135,272,444 (GRCm39) |
I399N |
probably damaging |
Het |
| Ripply2 |
A |
G |
9: 86,898,372 (GRCm39) |
Y72C |
probably damaging |
Het |
| Rp1l1 |
T |
A |
14: 64,266,837 (GRCm39) |
S808T |
possibly damaging |
Het |
| Scn5a |
G |
A |
9: 119,362,838 (GRCm39) |
T594I |
probably damaging |
Het |
| Sf3b1 |
T |
C |
1: 55,037,267 (GRCm39) |
D883G |
probably benign |
Het |
| Skint5 |
A |
T |
4: 113,369,220 (GRCm39) |
|
probably null |
Het |
| Terf1 |
A |
G |
1: 15,889,207 (GRCm39) |
H212R |
probably damaging |
Het |
| Tmco5 |
T |
G |
2: 116,711,269 (GRCm39) |
|
probably null |
Het |
| Tnfaip3 |
A |
T |
10: 18,882,660 (GRCm39) |
Y252* |
probably null |
Het |
| Tnrc6a |
T |
A |
7: 122,770,083 (GRCm39) |
N624K |
probably damaging |
Het |
| Top3a |
C |
A |
11: 60,633,615 (GRCm39) |
R827L |
probably damaging |
Het |
| Unc79 |
G |
A |
12: 103,055,031 (GRCm39) |
|
probably null |
Het |
| Usp20 |
T |
C |
2: 30,901,116 (GRCm39) |
S422P |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,509,766 (GRCm39) |
E2402G |
probably benign |
Het |
| Wdr3 |
G |
A |
3: 100,063,734 (GRCm39) |
Q181* |
probably null |
Het |
| Zfp536 |
T |
C |
7: 37,267,373 (GRCm39) |
E681G |
probably damaging |
Het |
| Zfp91 |
C |
T |
19: 12,747,438 (GRCm39) |
V562I |
possibly damaging |
Het |
| Zfp942 |
A |
T |
17: 22,148,017 (GRCm39) |
I204N |
probably benign |
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 |
|
IGL02562:Meis2
|
APN |
2 |
115,879,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGTTTACCCATAGATTGCGTCCTTG -3'
(R):5'- TATTGGATCTCCTGGAGGAGGCGAAG -3'
Sequencing Primer
(F):5'- GTTGACAGCAGATCCCATGC -3'
(R):5'- ctctctctctctctctctctctc -3'
|
| Posted On |
2013-08-08 |
Incidental Mutation