Incidental Mutation 'R9772:Mesp2'
ID 733482
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 # R9772 (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 79461348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 224 (I224M)
Ref Sequence ENSEMBL: ENSMUSP00000103017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107394]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000107394
AA Change: I224M

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103017
Gene: ENSMUSG00000030543
AA Change: I224M

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: 99.8%
  • 10x: 99.4%
  • 20x: 98.5%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 A T 2: 26,985,666 (GRCm39) I517F probably benign Het
Ankdd1a A G 9: 65,408,749 (GRCm39) C506R probably damaging Het
Arid3c T C 4: 41,724,723 (GRCm39) N371D probably damaging Het
Ccdc117 C T 11: 5,492,042 (GRCm39) R6Q possibly damaging Het
Ccdc78 C T 17: 26,005,665 (GRCm39) R26* probably null Het
Clca4a C A 3: 144,676,422 (GRCm39) W86L probably damaging Het
Clrn2 C T 5: 45,611,369 (GRCm39) Q73* probably null Het
Cpne6 A G 14: 55,754,117 (GRCm39) D478G probably benign Het
Cyp2c40 T A 19: 39,792,348 (GRCm39) I199L probably benign Het
Dna2 T C 10: 62,786,522 (GRCm39) V90A probably benign Het
Dydc1 A G 14: 40,804,248 (GRCm39) E90G probably damaging Het
Egf A T 3: 129,499,756 (GRCm39) S795T probably benign Het
Gm13090 G T 4: 151,175,565 (GRCm39) A102S unknown Het
Hectd4 A T 5: 121,448,744 (GRCm39) Y364F probably benign Het
Iqgap3 C A 3: 88,016,176 (GRCm39) F986L probably damaging Het
Krt79 T G 15: 101,839,196 (GRCm39) E424D probably benign Het
Ltf T C 9: 110,869,425 (GRCm39) S87P unknown Het
Mettl25 T C 10: 105,633,127 (GRCm39) R439G probably benign Het
Mettl27 C T 5: 134,962,390 (GRCm39) R63W possibly damaging Het
Nap1l1 C T 10: 111,325,911 (GRCm39) R77* probably null Het
Niban2 T C 2: 32,795,868 (GRCm39) I48T probably damaging Het
Notch4 G T 17: 34,792,883 (GRCm39) probably null Het
Npepps A G 11: 97,113,983 (GRCm39) I631T probably benign Het
Or4c105 G A 2: 88,647,958 (GRCm39) V148I probably benign Het
Or8b51 A T 9: 38,568,964 (GRCm39) C241* probably null Het
Pacsin3 T A 2: 91,093,138 (GRCm39) L210Q probably damaging Het
Ppp2r1a A T 17: 21,181,855 (GRCm39) I458F probably damaging Het
Ryr2 T C 13: 11,609,785 (GRCm39) E4347G probably benign Het
Ryr3 A G 2: 112,657,048 (GRCm39) I1911T probably damaging Het
Sec16a A G 2: 26,329,417 (GRCm39) I866T possibly damaging Het
Sfr1 G T 19: 47,722,019 (GRCm39) C145F probably benign Het
Slc35f4 A T 14: 49,551,175 (GRCm39) Y230N probably damaging Het
Slx4 A G 16: 3,818,849 (GRCm39) V89A Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Tbc1d23 A G 16: 56,990,765 (GRCm39) I671T probably damaging Het
Trub1 G A 19: 57,472,075 (GRCm39) V184I probably benign Het
Usp10 CAA CAAA 8: 120,658,620 (GRCm39) probably null Het
Vit A C 17: 78,932,398 (GRCm39) T502P probably damaging Het
Vmn2r15 C T 5: 109,434,923 (GRCm39) G594R probably damaging 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
R9480:Mesp2 UTSW 7 79,461,034 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TCTCACCGATGCCCTCAATG -3'
(R):5'- TCCACTTTAGTTCCAAATGAAGCC -3'

Sequencing Primer
(F):5'- ATGCCCTCAATGCCCCG -3'
(R):5'- CCATGAAAATGGCAGGGGTCC -3'
Posted On 2022-11-14