Incidental Mutation 'R5131:Mesp2'
ID 395003
Institutional Source Beutler Lab
Gene Symbol Mesp2
Ensembl Gene ENSMUSG00000030543
Gene Name mesoderm posterior 2
Synonyms bHLHc6
MMRRC Submission 042719-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5131 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 79460475-79463179 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79461475 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 267 (T267A)
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: T267A

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103017
Gene: ENSMUSG00000030543
AA Change: T267A

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 C T 4: 40,163,797 (GRCm39) P17S probably benign Het
Arhgap35 A G 7: 16,245,112 (GRCm39) probably null Het
Brd3 A T 2: 27,343,427 (GRCm39) N480K probably benign Het
Ccnk T C 12: 108,168,890 (GRCm39) probably benign Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cdh1 T C 8: 107,390,430 (GRCm39) V590A possibly damaging Het
Cert1 A G 13: 96,751,343 (GRCm39) D331G probably damaging Het
Cic TCCCCC TCCCCCCCC 7: 24,991,095 (GRCm39) probably benign Het
Cmklr2 T A 1: 63,222,840 (GRCm39) S132C probably damaging Het
Cyp4a12a T A 4: 115,185,017 (GRCm39) D399E possibly damaging Het
Dnah11 A C 12: 117,918,486 (GRCm39) Y3482D probably damaging Het
Gtf3c3 A T 1: 54,458,657 (GRCm39) probably null Het
Gzmk G T 13: 113,310,482 (GRCm39) A73E probably benign Het
Hnrnpul1 A G 7: 25,426,219 (GRCm39) V444A probably benign Het
Lgr4 T C 2: 109,842,678 (GRCm39) S864P probably benign Het
Lrp2 A T 2: 69,260,686 (GRCm39) V4515E possibly damaging Het
Map3k19 A T 1: 127,751,427 (GRCm39) N641K possibly damaging Het
Mipep T C 14: 61,140,823 (GRCm39) L682P probably damaging Het
Nalcn G T 14: 123,753,182 (GRCm39) T268K probably damaging Het
Ncam2 T C 16: 81,234,550 (GRCm39) V135A probably benign Het
Ndufaf6 G T 4: 11,060,931 (GRCm39) T215K probably damaging Het
Nr1h4 T C 10: 89,319,317 (GRCm39) D183G probably damaging Het
Pate9 C T 9: 36,446,242 (GRCm39) A57T possibly damaging Het
Pax2 G T 19: 44,749,394 (GRCm39) V41L probably damaging Het
Pde4dip T A 3: 97,616,830 (GRCm39) N1804I probably damaging Het
Phtf2 A T 5: 20,979,050 (GRCm39) V526E probably damaging Het
Ppp1ca G A 19: 4,244,895 (GRCm39) C291Y probably damaging Het
Prag1 G T 8: 36,607,123 (GRCm39) G955C probably damaging Het
Psap T A 10: 60,135,736 (GRCm39) V394E possibly damaging Het
Rap1b C T 10: 117,660,516 (GRCm39) V14I probably damaging Het
Rnf181 G A 6: 72,337,811 (GRCm39) probably null Het
Rsbn1l G A 5: 21,101,243 (GRCm39) R766C possibly damaging Het
Rusc2 C T 4: 43,414,948 (GRCm39) P85S probably benign Het
Rxfp1 T C 3: 79,559,471 (GRCm39) probably null Het
Serpinb6a T A 13: 34,102,855 (GRCm39) M202L probably benign Het
Snd1 T C 6: 28,885,049 (GRCm39) F800S probably damaging Het
Tbc1d2b G A 9: 90,091,812 (GRCm39) T830I probably damaging Het
Tmem209 A T 6: 30,497,166 (GRCm39) N183K probably benign Het
Tmtc3 T C 10: 100,284,841 (GRCm39) D598G probably damaging Het
Ube3b A G 5: 114,545,607 (GRCm39) D622G probably damaging Het
Zbtb43 A T 2: 33,344,778 (GRCm39) M112K 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
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
Predicted Primers PCR Primer
(F):5'- GGAACAGGATCTCCAACGTG -3'
(R):5'- TATGGCAGTGGCTATAACTTCC -3'

Sequencing Primer
(F):5'- AACGTGGATCCCTGGGTGAC -3'
(R):5'- CTTCTCCTACAGGTGTAAATAAGGC -3'
Posted On 2016-06-21