Incidental Mutation 'IGL02672:Mesp2'
ID 302955
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mesp2
Ensembl Gene ENSMUSG00000030543
Gene Name mesoderm posterior 2
Synonyms bHLHc6
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02672
Quality Score
Status
Chromosome 7
Chromosomal Location 79460475-79463179 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79461145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 157 (S157P)
Ref Sequence ENSEMBL: ENSMUSP00000103017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107394]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000107394
AA Change: S157P

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000103017
Gene: ENSMUSG00000030543
AA Change: S157P

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn C T 4: 156,259,018 (GRCm39) probably benign Het
Alpi A G 1: 87,028,994 (GRCm39) L60P probably damaging Het
Arpc1a A C 5: 145,041,697 (GRCm39) I327L probably damaging Het
Col5a1 C T 2: 27,864,727 (GRCm39) A737V unknown Het
Dcaf7 T C 11: 105,945,684 (GRCm39) probably benign Het
Dnah9 T G 11: 65,818,427 (GRCm39) I3304L probably benign Het
Dpp10 T A 1: 123,304,376 (GRCm39) H508L probably benign Het
Dync1i1 A G 6: 5,767,034 (GRCm39) D86G probably benign Het
Enpp7 T C 11: 118,883,166 (GRCm39) probably null Het
Fbxw9 C A 8: 85,792,682 (GRCm39) probably null Het
Foxred2 A G 15: 77,829,777 (GRCm39) probably null Het
Gas2l2 C T 11: 83,315,957 (GRCm39) R254H probably damaging Het
Gatad2b C T 3: 90,249,198 (GRCm39) L79F possibly damaging Het
Igf1r A T 7: 67,839,781 (GRCm39) D696V probably benign Het
Kcnk5 A G 14: 20,196,580 (GRCm39) I96T probably damaging Het
Lrrc8c C T 5: 105,755,224 (GRCm39) T333M possibly damaging Het
Mcm10 T C 2: 5,006,092 (GRCm39) T417A probably benign Het
Naca A G 10: 127,876,152 (GRCm39) probably benign Het
Or5t17 A T 2: 86,832,417 (GRCm39) M35L probably benign Het
Osgepl1 A G 1: 53,359,270 (GRCm39) T260A probably benign Het
Otop1 T C 5: 38,435,170 (GRCm39) probably null Het
Pdk1 T C 2: 71,726,096 (GRCm39) S335P probably damaging Het
Phkb A G 8: 86,668,987 (GRCm39) N338S probably benign Het
Pogz G A 3: 94,763,410 (GRCm39) V61I probably benign Het
Ppp4r1 A G 17: 66,147,942 (GRCm39) Y928C probably damaging Het
Rab17 T C 1: 90,886,940 (GRCm39) E160G probably damaging Het
Rasgrp3 T A 17: 75,803,412 (GRCm39) F70Y probably benign Het
Rere T A 4: 150,594,483 (GRCm39) N364K unknown Het
Ryr1 A T 7: 28,703,944 (GRCm39) probably benign Het
Sae1 A G 7: 16,104,273 (GRCm39) V112A probably damaging Het
Serpinb6d C T 13: 33,855,372 (GRCm39) H349Y probably benign Het
Slc12a1 T C 2: 125,012,596 (GRCm39) V286A probably damaging Het
Smad3 A T 9: 63,575,009 (GRCm39) probably null Het
Sox8 T A 17: 25,787,963 (GRCm39) D162V probably damaging Het
Sptbn1 A G 11: 30,087,239 (GRCm39) F1067L probably damaging Het
Tmprss3 T C 17: 31,409,981 (GRCm39) Y211C probably damaging Het
Top2b T C 14: 16,409,166 (GRCm38) probably benign Het
Tpp1 A T 7: 105,396,168 (GRCm39) H510Q probably benign Het
Ugcg T A 4: 59,218,587 (GRCm39) probably benign Het
Vmn2r96 T A 17: 18,818,376 (GRCm39) I651N probably benign Het
Wdr25 A T 12: 108,864,007 (GRCm39) K51* probably null Het
Other mutations in Mesp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00904:Mesp2 APN 7 79,462,401 (GRCm39) missense probably benign
IGL02707:Mesp2 APN 7 79,461,274 (GRCm39) missense probably benign 0.29
R1581:Mesp2 UTSW 7 79,462,289 (GRCm39) missense possibly damaging 0.48
R1614:Mesp2 UTSW 7 79,461,367 (GRCm39) missense probably benign 0.00
R3716:Mesp2 UTSW 7 79,462,542 (GRCm39) missense possibly damaging 0.96
R5131:Mesp2 UTSW 7 79,461,475 (GRCm39) missense possibly damaging 0.83
R5221:Mesp2 UTSW 7 79,461,467 (GRCm39) missense possibly damaging 0.84
R5551:Mesp2 UTSW 7 79,461,367 (GRCm39) missense probably benign 0.00
R7599:Mesp2 UTSW 7 79,460,717 (GRCm39) missense probably damaging 0.98
R9480:Mesp2 UTSW 7 79,461,034 (GRCm39) missense probably damaging 0.97
R9772:Mesp2 UTSW 7 79,461,348 (GRCm39) missense possibly damaging 0.95
Posted On 2015-04-16