Incidental Mutation 'IGL00904:Mesp2'
ID27777
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mesp2
Ensembl Gene ENSMUSG00000030543
Gene Namemesoderm posterior 2
SynonymsbHLHc6
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00904
Quality Score
Status
Chromosome7
Chromosomal Location79810727-79813439 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 79812653 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 319 (D319G)
Ref Sequence ENSEMBL: ENSMUSP00000103017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107394]
Predicted Effect probably benign
Transcript: ENSMUST00000107394
AA Change: D319G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103017
Gene: ENSMUSG00000030543
AA Change: D319G

DomainStartEndE-ValueType
low complexity region 25 45 N/A INTRINSIC
low complexity region 57 77 N/A INTRINSIC
HLH 85 139 2.16e-10 SMART
internal_repeat_1 161 203 8.79e-6 PROSPERO
internal_repeat_1 219 255 8.79e-6 PROSPERO
low complexity region 282 312 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the bHLH family of transcription factors and plays a key role in defining the rostrocaudal patterning of somites via interactions with multiple Notch signaling pathways. This gene is expressed in the anterior presomitic mesoderm and is downregulated immediately after the formation of segmented somites. This gene also plays a role in the formation of epithelial somitic mesoderm and cardiac mesoderm. Mutations in the MESP2 gene cause autosomal recessive spondylocostal dystosis 2 (SCD02). [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit absence of segmented somites, fused vertebral columns and dorsal root ganglia, and impaired sclerotomal polarity. Mutants die shortly after birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 G T 6: 86,946,153 G236C probably damaging Het
Abi1 C T 2: 22,941,930 R404Q possibly damaging Het
Atp8b3 C T 10: 80,528,764 G532R probably damaging Het
Bysl C T 17: 47,601,871 M331I probably benign Het
Cndp1 A G 18: 84,611,665 S468P probably benign Het
Esd A G 14: 74,749,688 *266W probably null Het
F5 T C 1: 164,194,009 V1351A probably benign Het
Fchsd2 A G 7: 101,271,622 D454G probably benign Het
Fndc1 T A 17: 7,756,363 M1415L probably benign Het
Ghr T A 15: 3,328,120 Y222F probably benign Het
Gm6583 G A 5: 112,355,128 R237* probably null Het
Gtf3c2 C T 5: 31,172,858 S299N probably damaging Het
Ice1 C T 13: 70,602,289 D93N probably damaging Het
Ints7 T A 1: 191,596,164 probably null Het
Kif18a A G 2: 109,292,126 D182G probably damaging Het
Mcm9 A T 10: 53,622,921 H308Q possibly damaging Het
Mrpl55 T A 11: 59,205,673 S84T probably benign Het
Mybpc3 T C 2: 91,120,029 V123A probably benign Het
Myom1 T C 17: 71,099,949 probably benign Het
Nfia C T 4: 98,065,386 P325S probably damaging Het
Notch4 T C 17: 34,575,561 probably null Het
Npepps A C 11: 97,258,306 V130G probably damaging Het
Olfr1356 A T 10: 78,847,763 S51T probably damaging Het
Pja2 G T 17: 64,283,531 T669K probably damaging Het
Rnf112 G T 11: 61,452,784 D98E probably damaging Het
Rsl1d1 G A 16: 11,199,694 T136I probably damaging Het
Samsn1 A T 16: 75,909,120 probably benign Het
Slc6a9 T C 4: 117,864,617 L280P probably damaging Het
Svep1 T C 4: 58,097,398 N1382D probably benign Het
Vmn2r100 T G 17: 19,526,000 C474G probably damaging Het
Vmn2r74 C T 7: 85,957,580 R186H probably benign Het
Wdr7 T C 18: 63,796,231 I1046T probably benign Het
Other mutations in Mesp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02672:Mesp2 APN 7 79811397 missense probably benign 0.01
IGL02707:Mesp2 APN 7 79811526 missense probably benign 0.29
R1581:Mesp2 UTSW 7 79812541 missense possibly damaging 0.48
R1614:Mesp2 UTSW 7 79811619 missense probably benign 0.00
R3716:Mesp2 UTSW 7 79812794 missense possibly damaging 0.96
R5131:Mesp2 UTSW 7 79811727 missense possibly damaging 0.83
R5221:Mesp2 UTSW 7 79811719 missense possibly damaging 0.84
R5551:Mesp2 UTSW 7 79811619 missense probably benign 0.00
R7599:Mesp2 UTSW 7 79810969 missense probably damaging 0.98
Posted On2013-04-17