Incidental Mutation 'R4553:Nog'
ID 341788
Institutional Source Beutler Lab
Gene Symbol Nog
Ensembl Gene ENSMUSG00000048616
Gene Name noggin
Synonyms
MMRRC Submission 041595-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4553 (G1)
Quality Score 146
Status Not validated
Chromosome 11
Chromosomal Location 89191464-89193158 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89192248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 200 (L200P)
Ref Sequence ENSEMBL: ENSMUSP00000061427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061728]
AlphaFold P97466
Predicted Effect probably damaging
Transcript: ENSMUST00000061728
AA Change: L200P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061427
Gene: ENSMUSG00000048616
AA Change: L200P

DomainStartEndE-ValueType
Pfam:Noggin 12 232 4.4e-105 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140754
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The secreted polypeptide, encoded by this gene, binds and inactivates members of the transforming growth factor-beta (TGF-beta) superfamily signaling proteins, such as bone morphogenetic protein-4 (BMP4). By diffusing through extracellular matrices more efficiently than members of the TGF-beta superfamily, this protein may have a principal role in creating morphogenic gradients. The protein appears to have pleiotropic effect, both early in development as well as in later stages. It was originally isolated from Xenopus based on its ability to restore normal dorsal-ventral body axis in embryos that had been artificially ventralized by UV treatment. The results of the mouse knockout of the ortholog suggest that it is involved in numerous developmental processes, such as neural tube fusion and joint formation. Recently, several dominant human NOG mutations in unrelated families with proximal symphalangism (SYM1) and multiple synostoses syndrome (SYNS1) were identified; both SYM1 and SYNS1 have multiple joint fusion as their principal feature, and map to the same region (17q22) as this gene. All of these mutations altered evolutionarily conserved amino acid residues. The amino acid sequence of this human gene is highly homologous to that of Xenopus, rat and mouse. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit failed closure of neural tube, exencephaly, wide club-shaped limbs, loss of tail vertebrae, shortened body axis, abnormal cartilage condensations, and lethality at birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500011B03Rik T C 5: 114,951,254 (GRCm39) Y49C probably damaging Het
Adat1 T C 8: 112,716,912 (GRCm39) T32A probably damaging Het
Adra2a T C 19: 54,035,166 (GRCm39) V174A possibly damaging Het
Armcx5 T A X: 134,647,256 (GRCm39) V444D probably damaging Het
Cand2 C A 6: 115,769,172 (GRCm39) R661S probably damaging Het
Cd274 T C 19: 29,357,848 (GRCm39) V180A probably benign Het
Crat T C 2: 30,298,229 (GRCm39) T157A probably benign Het
Cts6 G A 13: 61,345,407 (GRCm39) P230L probably damaging Het
Dppa2 A G 16: 48,130,877 (GRCm39) Y3C possibly damaging Het
Epgn A T 5: 91,175,421 (GRCm39) K14* probably null Het
Garin1a A G 6: 29,287,705 (GRCm39) I210M probably benign Het
Gsap A T 5: 21,495,569 (GRCm39) D79V probably damaging Het
Hgfac T A 5: 35,200,200 (GRCm39) C130S probably damaging Het
Ifi35 T C 11: 101,348,717 (GRCm39) V188A probably damaging Het
Iqsec2 A G X: 150,994,277 (GRCm39) H585R probably benign Het
Itih4 T C 14: 30,622,910 (GRCm39) L842P probably damaging Het
Kif3a C A 11: 53,469,745 (GRCm39) L119I possibly damaging Het
Lrp2 T C 2: 69,343,629 (GRCm39) D910G probably benign Het
Lyve1 T C 7: 110,451,567 (GRCm39) probably null Het
Mtss2 A G 8: 111,465,137 (GRCm39) T464A probably damaging Het
Mx2 A G 16: 97,353,205 (GRCm39) T398A possibly damaging Het
Nlrp4e T C 7: 23,020,404 (GRCm39) M297T probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Papolb T C 5: 142,514,933 (GRCm39) I237V probably benign Het
Phf11b G A 14: 59,578,734 (GRCm39) P11S probably benign Het
Plcb1 T C 2: 135,177,413 (GRCm39) S582P probably benign Het
Pld1 G T 3: 28,178,851 (GRCm39) R915L probably benign Het
Sell C T 1: 163,899,685 (GRCm39) T34I probably benign Het
Slc34a1 G A 13: 55,559,874 (GRCm39) probably null Het
Slc8b1 T C 5: 120,667,663 (GRCm39) V432A probably damaging Het
Tipin T A 9: 64,195,385 (GRCm39) probably null Het
Vmn1r117 A T 7: 20,617,517 (GRCm39) F177Y probably damaging Het
Xab2 T C 8: 3,661,015 (GRCm39) T700A probably benign Het
Other mutations in Nog
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1747:Nog UTSW 11 89,192,408 (GRCm39) missense probably benign 0.00
R5763:Nog UTSW 11 89,192,291 (GRCm39) missense probably damaging 1.00
R5863:Nog UTSW 11 89,192,356 (GRCm39) missense probably damaging 1.00
R9129:Nog UTSW 11 89,192,602 (GRCm39) missense probably damaging 0.99
R9722:Nog UTSW 11 89,192,396 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCATTGAAAACCCTCGCTAGAG -3'
(R):5'- TCAAAGGGCTGGAGTTCTCC -3'

Sequencing Primer
(F):5'- CTCGCTAGAGGGTGGTGAAACTG -3'
(R):5'- AGTTCTCCGAGGGCTTGGC -3'
Posted On 2015-09-24