Incidental Mutation 'IGL02902:Meis2'
ID363639
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Meis2
Ensembl Gene ENSMUSG00000027210
Gene NameMeis homeobox 2
SynonymsStra10, Meis2, A430109D20Rik, Mrg1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.892) question?
Stock #IGL02902
Quality Score
Status
Chromosome2
Chromosomal Location115863064-116065839 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 116063323 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 36 (H36L)
Ref Sequence ENSEMBL: ENSMUSP00000106531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028639] [ENSMUST00000074285] [ENSMUST00000102538] [ENSMUST00000110906] [ENSMUST00000110907] [ENSMUST00000110908]
Predicted Effect probably benign
Transcript: ENSMUST00000028639
AA Change: H37L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000028639
Gene: ENSMUSG00000027210
AA Change: H37L

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
AA Change: H36L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000073898
Gene: ENSMUSG00000027210
AA Change: H36L

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: H37L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000099597
Gene: ENSMUSG00000027210
AA Change: H37L

DomainStartEndE-ValueType
HOX 276 341 4.27e-12 SMART
low complexity region 388 395 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110906
AA Change: H36L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106531
Gene: ENSMUSG00000027210
AA Change: H36L

DomainStartEndE-ValueType
HOX 275 340 4.27e-12 SMART
low complexity region 382 395 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110907
AA Change: H37L

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000106532
Gene: ENSMUSG00000027210
AA Change: H37L

DomainStartEndE-ValueType
HOX 276 341 4.27e-12 SMART
low complexity region 383 396 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110908
AA Change: H37L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000106533
Gene: ENSMUSG00000027210
AA Change: H37L

DomainStartEndE-ValueType
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: ENSMUST00000134314
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138526
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140185
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140461
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152412
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156095
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810459M11Rik G T 1: 86,046,365 V135F possibly damaging Het
Aatk T C 11: 120,011,777 T541A probably benign Het
Abcc1 T C 16: 14,423,127 L516P probably damaging Het
Actl6a T A 3: 32,722,642 V350E possibly damaging Het
Afm A G 5: 90,526,363 K245E possibly damaging Het
Agr3 T C 12: 35,946,916 V63A probably damaging Het
Arhgef28 A T 13: 97,946,875 M1162K probably damaging Het
BC003331 C A 1: 150,384,428 probably null Het
Casq2 T A 3: 102,086,797 C53* probably null Het
Ccdc181 T C 1: 164,279,901 V51A probably benign Het
Cd101 A G 3: 101,018,994 probably benign Het
Csdc2 T C 15: 81,948,600 V69A probably benign Het
Cyp2c23 A T 19: 44,021,558 probably benign Het
Dnph1 A G 17: 46,498,501 probably benign Het
Egf T C 3: 129,681,147 T1124A probably benign Het
Gm13089 A G 4: 143,698,343 C177R probably damaging Het
Gpr45 A G 1: 43,033,211 E338G possibly damaging Het
Grb14 A C 2: 64,938,418 L98R probably damaging Het
Gucy1a1 T C 3: 82,118,917 S77G possibly damaging Het
Helb A G 10: 120,089,485 S996P probably benign Het
Huwe1 A G X: 151,886,766 E1405G probably damaging Het
Ifi47 T C 11: 49,095,790 I128T probably benign Het
Ift140 T A 17: 25,090,762 Y1089N probably damaging Het
Il1r1 A T 1: 40,302,409 H324L probably benign Het
Irx1 C T 13: 71,959,855 R236H probably benign Het
Itpr3 T C 17: 27,104,556 V1185A probably benign Het
Kif19a T C 11: 114,785,570 V450A possibly damaging Het
Krtap21-1 G T 16: 89,403,558 Y65* probably null Het
Ltn1 A T 16: 87,379,805 N1704K possibly damaging Het
Med1 T C 11: 98,156,509 probably benign Het
Mier2 T C 10: 79,549,622 N124S probably damaging Het
Mmp20 A G 9: 7,654,170 probably null Het
Muc4 A G 16: 32,750,394 T91A possibly damaging Het
Myo3b T A 2: 70,289,401 V935E probably benign Het
Ndufa7 T C 17: 33,829,658 probably benign Het
Nipal1 A G 5: 72,668,062 E366G possibly damaging Het
Nobox A T 6: 43,305,683 N263K probably benign Het
Notch2 A G 3: 98,111,574 D684G probably damaging Het
Olfr1136 T C 2: 87,693,000 N294S probably damaging Het
Olfr1255 T A 2: 89,817,164 Y273* probably null Het
Olfr303 T C 7: 86,394,535 probably benign Het
Olfr31 A G 14: 14,328,789 H226R probably benign Het
Olfr494 C A 7: 108,368,129 T213K probably damaging Het
Plau A C 14: 20,839,897 D270A possibly damaging Het
Pof1b T C X: 112,649,112 probably null Het
Prtn3 A T 10: 79,881,933 probably null Het
Ptges3 T A 10: 128,068,747 D26E probably benign Het
Pxmp2 T C 5: 110,281,294 E99G probably benign Het
Rasgef1a A G 6: 118,083,107 R106G probably benign Het
Rnf208 T C 2: 25,243,762 V156A probably benign Het
Rps6ka1 A T 4: 133,871,981 I45N possibly damaging Het
Rps6ka4 C T 19: 6,832,255 probably null Het
Rsbn1 G T 3: 103,953,656 C466F possibly damaging Het
Shkbp1 A T 7: 27,342,716 C605S probably damaging Het
Slc2a10 G A 2: 165,518,222 D531N probably benign Het
Sox13 A G 1: 133,389,466 L143P probably damaging Het
Stx2 C T 5: 128,992,221 R142Q probably damaging Het
Tanc1 T A 2: 59,793,087 probably benign Het
Ttc26 A C 6: 38,425,162 S530R probably benign Het
Tubgcp5 C T 7: 55,806,607 Q316* probably null Het
Ubc A G 5: 125,386,229 V678A probably benign Het
Unc5d G A 8: 28,875,606 T117I probably damaging Het
Vmn2r4 T C 3: 64,406,916 I126V probably benign Het
Zfp410 T A 12: 84,331,820 probably null Het
Other mutations in Meis2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00590:Meis2 APN 2 115868793 missense probably damaging 1.00
IGL00708:Meis2 APN 2 115864244 missense probably benign 0.11
IGL01095:Meis2 APN 2 115864424 missense probably benign
IGL02199:Meis2 APN 2 116000256 missense probably benign 0.01
IGL02562:Meis2 APN 2 116049146 missense probably damaging 1.00
IGL03183:Meis2 APN 2 116059521 missense probably damaging 0.98
IGL03205:Meis2 APN 2 115864250 missense probably benign 0.08
P4748:Meis2 UTSW 2 115864480 missense probably benign 0.03
R0369:Meis2 UTSW 2 116063416 missense possibly damaging 0.82
R0410:Meis2 UTSW 2 115864228 makesense probably null
R1465:Meis2 UTSW 2 116058670 missense probably benign 0.03
R1465:Meis2 UTSW 2 116058670 missense probably benign 0.03
R1548:Meis2 UTSW 2 116058702 missense probably damaging 0.97
R1593:Meis2 UTSW 2 116000264 missense probably damaging 1.00
R3835:Meis2 UTSW 2 115921747 missense probably damaging 1.00
R4353:Meis2 UTSW 2 116059563 missense probably damaging 0.99
R4756:Meis2 UTSW 2 116000205 missense probably damaging 1.00
R4936:Meis2 UTSW 2 115864412 missense probably benign
R5841:Meis2 UTSW 2 116058664 missense probably benign
R5967:Meis2 UTSW 2 115864309 missense probably benign 0.04
R6661:Meis2 UTSW 2 115864270 missense probably damaging 0.97
R6781:Meis2 UTSW 2 116049155 missense probably benign 0.20
R7239:Meis2 UTSW 2 116059003 intron probably null
R7606:Meis2 UTSW 2 116063320 missense possibly damaging 0.93
Posted On2015-12-18