Incidental Mutation 'R9480:Mesp2'
ID 716185
Institutional Source Beutler Lab
Gene Symbol Mesp2
Ensembl Gene ENSMUSG00000030543
Gene Name mesoderm posterior 2
Synonyms bHLHc6
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9480 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 79460475-79463179 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79461034 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 120 (I120V)
Ref Sequence ENSEMBL: ENSMUSP00000103017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107394]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000107394
AA Change: I120V

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103017
Gene: ENSMUSG00000030543
AA Change: I120V

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
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 99.0%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T A 16: 14,211,889 (GRCm39) W142R probably damaging Het
Abcc6 A G 7: 45,629,197 (GRCm39) S1350P probably damaging Het
Abraxas2 G T 7: 132,473,323 (GRCm39) V84L probably benign Het
Adam12 T A 7: 133,736,470 (GRCm39) I81F probably damaging Het
Adam22 A G 5: 8,193,077 (GRCm39) V376A probably benign Het
Anapc11 T A 11: 120,496,176 (GRCm39) I60N probably damaging Het
Apcdd1 C T 18: 63,055,731 (GRCm39) probably benign Het
Atrnl1 T A 19: 57,690,420 (GRCm39) V876E possibly damaging Het
Bcar3 C T 3: 122,277,618 (GRCm39) R21* probably null Het
Calb1 T A 4: 15,885,608 (GRCm39) S60T probably benign Het
Ceacam9 A G 7: 16,457,783 (GRCm39) T99A probably damaging Het
Cemip2 C A 19: 21,775,622 (GRCm39) H288Q possibly damaging Het
Chst13 G A 6: 90,286,506 (GRCm39) P152L probably damaging Het
Cnot1 T C 8: 96,497,338 (GRCm39) D213G possibly damaging Het
Col23a1 T A 11: 51,207,774 (GRCm39) C105S unknown Het
Cxcl2 T C 5: 91,052,029 (GRCm39) V45A possibly damaging Het
Ddx21 T C 10: 62,434,652 (GRCm39) T36A probably benign Het
Dlgap4 G T 2: 156,546,514 (GRCm39) R394L possibly damaging Het
Dus2 C T 8: 106,757,052 (GRCm39) Q81* probably null Het
Fat3 T C 9: 15,942,703 (GRCm39) D1223G probably damaging Het
Fgf3 G T 7: 144,396,619 (GRCm39) R211L possibly damaging Het
Galnt17 T A 5: 130,935,576 (GRCm39) E369V probably damaging Het
Gatad2a T C 8: 70,388,459 (GRCm39) D76G probably damaging Het
Gin1 A G 1: 97,705,198 (GRCm39) E96G probably damaging Het
Gpr55 A C 1: 85,868,977 (GRCm39) Y201* probably null Het
Hgsnat T C 8: 26,442,029 (GRCm39) N499D possibly damaging Het
Hipk2 G T 6: 38,680,377 (GRCm39) P988T probably benign Het
Hivep1 A T 13: 42,337,058 (GRCm39) Q2379L probably damaging Het
Kat14 T A 2: 144,215,745 (GRCm39) C77S probably damaging Het
Klhl25 T C 7: 75,516,120 (GRCm39) V342A probably damaging Het
Krt35 T C 11: 99,986,609 (GRCm39) Q135R probably benign Het
Lhfpl2 T A 13: 94,310,733 (GRCm39) M1K probably null Het
Lipk T A 19: 33,999,101 (GRCm39) L132Q probably damaging Het
Lrrc39 T A 3: 116,359,475 (GRCm39) C7S probably benign Het
Ltb4r2 T A 14: 56,000,089 (GRCm39) W237R probably damaging Het
Mfsd6 A G 1: 52,699,835 (GRCm39) V771A unknown Het
Mtfmt A T 9: 65,351,181 (GRCm39) T243S possibly damaging Het
Nlrp12 A T 7: 3,288,993 (GRCm39) C506* probably null Het
Ntng2 T A 2: 29,137,997 (GRCm39) Y19F probably damaging Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Orc4 T C 2: 48,795,563 (GRCm39) T388A probably benign Het
P4hb A T 11: 120,463,551 (GRCm39) V28D probably damaging Het
Phkb T G 8: 86,684,216 (GRCm39) S424R probably benign Het
Poldip2 T C 11: 78,411,988 (GRCm39) L308S probably damaging Het
Prkd1 T A 12: 50,435,283 (GRCm39) E481D probably benign Het
Serping1 C T 2: 84,600,487 (GRCm39) S285N probably benign Het
Sh2d2a A C 3: 87,759,638 (GRCm39) I350L probably benign Het
Siglecf G T 7: 43,001,666 (GRCm39) V159L possibly damaging Het
Sspo A G 6: 48,470,820 (GRCm39) N36S probably damaging Het
Sytl2 C T 7: 90,020,718 (GRCm39) T147M possibly damaging Het
Tmc7 A G 7: 118,141,226 (GRCm39) F635S probably benign Het
Tmco1 C T 1: 167,157,757 (GRCm39) L175F Het
Ttc39d A G 17: 80,524,139 (GRCm39) H266R probably benign Het
Usp33 T G 3: 152,079,086 (GRCm39) I446R possibly damaging Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Zbtb49 T A 5: 38,358,409 (GRCm39) T615S possibly damaging Het
Zbtb8a G T 4: 129,253,875 (GRCm39) H206Q probably benign Het
Zfp180 A G 7: 23,804,628 (GRCm39) N349S probably benign Het
Zfp345 A T 2: 150,315,212 (GRCm39) C108* probably null Het
Zfp420 T A 7: 29,575,497 (GRCm39) H572Q probably benign Het
Zfp423 A G 8: 88,631,115 (GRCm39) probably null Het
Zfp820 T A 17: 22,037,994 (GRCm39) T445S possibly damaging Het
Zim1 T C 7: 6,681,050 (GRCm39) I204M probably benign Het
Zpld2 G A 4: 133,929,312 (GRCm39) P331L probably benign Het
Other mutations in Mesp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00904:Mesp2 APN 7 79,462,401 (GRCm39) missense probably benign
IGL02672:Mesp2 APN 7 79,461,145 (GRCm39) missense probably benign 0.01
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
R9772:Mesp2 UTSW 7 79,461,348 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TCAGATTCGTCCGGTTCCTG -3'
(R):5'- CCACTACTCATGGCTGATCC -3'

Sequencing Primer
(F):5'- CGTAGCACGCGCACTAC -3'
(R):5'- TGATCCCAGGCTAGGACCAAG -3'
Posted On 2022-07-18