Incidental Mutation 'R5841:Meis2'
ID |
450418 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Meis2
|
Ensembl Gene |
ENSMUSG00000027210 |
Gene Name |
Meis homeobox 2 |
Synonyms |
Mrg1, Meis2, A430109D20Rik, Stra10 |
MMRRC Submission |
044061-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.860)
|
Stock # |
R5841 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
115693545-115896320 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 115889145 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 202
(E202D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106533
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028639]
[ENSMUST00000074285]
[ENSMUST00000102538]
[ENSMUST00000110906]
[ENSMUST00000110907]
[ENSMUST00000110908]
|
AlphaFold |
P97367 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028639
AA Change: E202D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000028639 Gene: ENSMUSG00000027210 AA Change: E202D
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: E201D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000073898 Gene: ENSMUSG00000027210 AA Change: E201D
Domain | Start | End | E-Value | Type |
HOX
|
275 |
340 |
4.27e-12 |
SMART |
low complexity region
|
375 |
388 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102538
AA Change: E202D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099597 Gene: ENSMUSG00000027210 AA Change: E202D
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: E201D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000106531 Gene: ENSMUSG00000027210 AA Change: E201D
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: E202D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000106532 Gene: ENSMUSG00000027210 AA Change: E202D
Domain | Start | End | E-Value | Type |
HOX
|
276 |
341 |
4.27e-12 |
SMART |
low complexity region
|
383 |
396 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110908
AA Change: E202D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000106533 Gene: ENSMUSG00000027210 AA Change: E202D
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: ENSMUST00000138526
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134314
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140461
|
Meta Mutation Damage Score |
0.0578 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
Validation Efficiency |
100% (67/67) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb6 |
A |
T |
1: 75,150,994 (GRCm39) |
F565L |
possibly damaging |
Het |
Abhd6 |
T |
A |
14: 8,049,596 (GRCm38) |
V188D |
probably benign |
Het |
Bbs12 |
T |
G |
3: 37,373,670 (GRCm39) |
N39K |
probably benign |
Het |
Bend5 |
A |
G |
4: 111,290,667 (GRCm39) |
Y221C |
probably damaging |
Het |
Brd8 |
A |
G |
18: 34,738,576 (GRCm39) |
S683P |
probably damaging |
Het |
Caskin1 |
A |
G |
17: 24,715,183 (GRCm39) |
D79G |
probably damaging |
Het |
Cdyl |
T |
C |
13: 36,056,544 (GRCm39) |
L509P |
probably damaging |
Het |
Cenpf |
G |
T |
1: 189,389,641 (GRCm39) |
T1397N |
possibly damaging |
Het |
Ckap5 |
T |
A |
2: 91,431,027 (GRCm39) |
M1479K |
probably benign |
Het |
Cpsf2 |
T |
C |
12: 101,951,497 (GRCm39) |
S145P |
probably damaging |
Het |
Cyp4a12a |
A |
T |
4: 115,183,899 (GRCm39) |
H235L |
probably benign |
Het |
Cyp7b1 |
A |
T |
3: 18,151,670 (GRCm39) |
F181Y |
probably damaging |
Het |
Dennd5b |
T |
C |
6: 148,946,253 (GRCm39) |
T453A |
probably benign |
Het |
Dlgap3 |
A |
G |
4: 127,089,193 (GRCm39) |
D263G |
probably damaging |
Het |
Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
Dync2li1 |
G |
A |
17: 84,940,990 (GRCm39) |
G69R |
probably damaging |
Het |
Edc3 |
T |
C |
9: 57,651,885 (GRCm39) |
V331A |
probably benign |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Ganc |
C |
T |
2: 120,242,020 (GRCm39) |
T66I |
possibly damaging |
Het |
Gm11595 |
C |
A |
11: 99,663,143 (GRCm39) |
C179F |
unknown |
Het |
Gnptg |
A |
G |
17: 25,454,391 (GRCm39) |
S159P |
probably damaging |
Het |
Gsdmc2 |
C |
T |
15: 63,698,059 (GRCm39) |
V349I |
probably benign |
Het |
Hydin |
T |
C |
8: 111,259,846 (GRCm39) |
I2606T |
possibly damaging |
Het |
Ino80d |
A |
G |
1: 63,097,999 (GRCm39) |
S632P |
probably damaging |
Het |
Kcnn2 |
G |
A |
18: 45,692,463 (GRCm39) |
R13H |
probably benign |
Het |
Klb |
A |
T |
5: 65,536,667 (GRCm39) |
K666* |
probably null |
Het |
Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
Kpna7 |
T |
C |
5: 144,930,766 (GRCm39) |
I360V |
possibly damaging |
Het |
Lmbrd2 |
A |
G |
15: 9,182,657 (GRCm39) |
K576E |
possibly damaging |
Het |
Lrp2 |
T |
A |
2: 69,310,497 (GRCm39) |
Y2692F |
probably benign |
Het |
Mgat4c |
A |
T |
10: 102,224,826 (GRCm39) |
T347S |
probably damaging |
Het |
Mmp12 |
G |
A |
9: 7,347,501 (GRCm39) |
C26Y |
possibly damaging |
Het |
Mrpl24 |
G |
A |
3: 87,830,292 (GRCm39) |
R145Q |
probably damaging |
Het |
Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
Mycbpap |
T |
A |
11: 94,396,436 (GRCm39) |
R135W |
probably damaging |
Het |
Myo1g |
T |
A |
11: 6,457,000 (GRCm39) |
Y942F |
probably benign |
Het |
Myrf |
T |
C |
19: 10,200,911 (GRCm39) |
K52R |
probably null |
Het |
Ncf2 |
A |
T |
1: 152,697,269 (GRCm39) |
|
silent |
Het |
Nherf2 |
A |
T |
17: 24,863,851 (GRCm39) |
M8K |
probably benign |
Het |
Or51f1e |
T |
C |
7: 102,747,161 (GRCm39) |
F71S |
probably damaging |
Het |
Otx1 |
T |
C |
11: 21,948,594 (GRCm39) |
|
probably benign |
Het |
Pcnx1 |
T |
A |
12: 81,965,429 (GRCm39) |
V532D |
possibly damaging |
Het |
Pik3r5 |
T |
C |
11: 68,383,096 (GRCm39) |
L305P |
probably damaging |
Het |
Pira13 |
T |
A |
7: 3,825,898 (GRCm39) |
R324* |
probably null |
Het |
Polr3a |
A |
T |
14: 24,500,766 (GRCm39) |
C1341S |
probably benign |
Het |
Ppp1r3a |
T |
C |
6: 14,718,983 (GRCm39) |
T644A |
probably benign |
Het |
Pramel22 |
A |
G |
4: 143,382,109 (GRCm39) |
S196P |
possibly damaging |
Het |
Ptbp1 |
A |
G |
10: 79,695,766 (GRCm39) |
D289G |
probably benign |
Het |
Pwp2 |
A |
G |
10: 78,007,952 (GRCm39) |
F868L |
probably benign |
Het |
Rgs8 |
A |
G |
1: 153,568,574 (GRCm39) |
E153G |
probably damaging |
Het |
Rhbdf2 |
G |
A |
11: 116,493,180 (GRCm39) |
|
probably benign |
Het |
Sbf1 |
T |
C |
15: 89,192,271 (GRCm39) |
H78R |
probably damaging |
Het |
Sdr16c6 |
C |
T |
4: 4,062,728 (GRCm39) |
A197T |
possibly damaging |
Het |
Slc36a3 |
A |
T |
11: 55,016,547 (GRCm39) |
Y349* |
probably null |
Het |
Slc38a9 |
T |
C |
13: 112,831,856 (GRCm39) |
L202P |
possibly damaging |
Het |
Slc40a1 |
A |
T |
1: 45,951,509 (GRCm39) |
M216K |
probably damaging |
Het |
Srebf1 |
T |
A |
11: 60,094,410 (GRCm39) |
Q568H |
possibly damaging |
Het |
Srp54b |
A |
G |
12: 55,299,614 (GRCm39) |
N315S |
probably benign |
Het |
Strc |
A |
G |
2: 121,196,358 (GRCm39) |
F1557L |
probably benign |
Het |
Susd3 |
C |
A |
13: 49,392,202 (GRCm39) |
|
probably benign |
Het |
Usp54 |
G |
A |
14: 20,600,351 (GRCm39) |
T1462I |
probably benign |
Het |
Vmn1r11 |
T |
A |
6: 57,114,787 (GRCm39) |
N150K |
probably damaging |
Het |
Vwa8 |
C |
T |
14: 79,231,958 (GRCm39) |
H606Y |
probably benign |
Het |
Zmym6 |
A |
G |
4: 126,994,463 (GRCm39) |
I206V |
possibly 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 |
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 |
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 |
|
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'- ATCAACTCCCTGGTTCTTAGAC -3'
(R):5'- ACAAATGTAACCTTGCAACCTG -3'
Sequencing Primer
(F):5'- TCTCACCATAAATAAGAACAGGGTC -3'
(R):5'- ATGTAACCTTGCAACCTGATATTC -3'
|
Posted On |
2016-12-20 |