Incidental Mutation 'IGL03205:Meis2'
ID 413111
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: 0.860) question?
Stock # IGL03205
Quality Score
Status
Chromosome 2
Chromosomal Location 115693545-115896320 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 115694731 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 471 (V471I)
Ref Sequence ENSEMBL: ENSMUSP00000028639 (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: V471I

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000028639
Gene: ENSMUSG00000027210
AA Change: V471I

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000073898
Gene: ENSMUSG00000027210

DomainStartEndE-ValueType
HOX 275 340 4.27e-12 SMART
low complexity region 375 388 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102538
AA Change: V464I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000099597
Gene: ENSMUSG00000027210
AA Change: V464I

DomainStartEndE-ValueType
HOX 276 341 4.27e-12 SMART
low complexity region 388 395 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110906
SMART Domains Protein: ENSMUSP00000106531
Gene: ENSMUSG00000027210

DomainStartEndE-ValueType
HOX 275 340 4.27e-12 SMART
low complexity region 382 395 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110907
SMART Domains Protein: ENSMUSP00000106532
Gene: ENSMUSG00000027210

DomainStartEndE-ValueType
HOX 276 341 4.27e-12 SMART
low complexity region 383 396 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110908
SMART Domains Protein: ENSMUSP00000106533
Gene: ENSMUSG00000027210

DomainStartEndE-ValueType
HOX 276 341 4.27e-12 SMART
low complexity region 376 389 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118654
SMART Domains Protein: ENSMUSP00000113915
Gene: ENSMUSG00000027210

DomainStartEndE-ValueType
low complexity region 39 52 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151279
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150477
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189640
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149217
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177493
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120995
SMART Domains Protein: ENSMUSP00000113630
Gene: ENSMUSG00000027210

DomainStartEndE-ValueType
low complexity region 39 52 N/A INTRINSIC
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bsph2 A T 7: 13,290,301 (GRCm39) D120E probably damaging Het
Casp14 A G 10: 78,549,173 (GRCm39) *258Q probably null Het
Ccdc54 A C 16: 50,411,254 (GRCm39) F4C possibly damaging Het
Clcn4 C T 7: 7,293,419 (GRCm39) V475M probably damaging Het
D630045J12Rik C T 6: 38,124,194 (GRCm39) R1586H probably damaging Het
Eml4 T A 17: 83,761,873 (GRCm39) S453R probably damaging Het
Flt1 T C 5: 147,636,631 (GRCm39) K118E probably benign Het
Kif20b A T 19: 34,936,863 (GRCm39) E154D probably damaging Het
Naa16 G A 14: 79,593,952 (GRCm39) T371I possibly damaging Het
Naa20 A G 2: 145,745,251 (GRCm39) T8A possibly damaging Het
Or13a28 G A 7: 140,218,073 (GRCm39) C153Y possibly damaging Het
Pla2g6 G A 15: 79,201,985 (GRCm39) P62L probably damaging Het
Pmel A G 10: 128,552,317 (GRCm39) T384A probably benign Het
Ryr3 T C 2: 112,462,487 (GRCm39) Y4863C probably damaging Het
Slc4a4 G A 5: 89,297,189 (GRCm39) V510I probably benign Het
Smad3 T A 9: 63,575,148 (GRCm39) Y23F probably benign Het
Sugt1 G A 14: 79,834,241 (GRCm39) A81T probably damaging Het
Svs3b A T 2: 164,098,181 (GRCm39) F47I probably damaging Het
Thbs4 T C 13: 92,899,282 (GRCm39) D571G probably damaging Het
Trav15-1-dv6-1 T C 14: 53,797,485 (GRCm39) Y45H probably damaging Het
Zbtb5 A T 4: 44,994,949 (GRCm39) M145K probably damaging Het
Other mutations in Meis2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2016-08-02