Incidental Mutation 'R7983:Rgmb'
ID 651338
Institutional Source Beutler Lab
Gene Symbol Rgmb
Ensembl Gene ENSMUSG00000048027
Gene Name repulsive guidance molecule family member B
Synonyms RGM domain family, member B, 1110059F19Rik, DRAGON
MMRRC Submission 046024-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7983 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 16024923-16051508 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16041189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 133 (T133A)
Ref Sequence ENSEMBL: ENSMUSP00000126177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170578] [ENSMUST00000231281] [ENSMUST00000232638]
AlphaFold Q7TQ33
Predicted Effect possibly damaging
Transcript: ENSMUST00000170578
AA Change: T133A

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126177
Gene: ENSMUSG00000048027
AA Change: T133A

DomainStartEndE-ValueType
signal peptide 1 51 N/A INTRINSIC
Pfam:RGM_N 57 225 6.8e-66 PFAM
Pfam:RGM_C 229 408 1e-74 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000231281
AA Change: T133A

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000232638
AA Change: T133A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 95% (39/41)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RGMB is a glycosylphosphatidylinositol (GPI)-anchored member of the repulsive guidance molecule family (see RGMA, MIM 607362) and contributes to the patterning of the developing nervous system (Samad et al., 2005 [PubMed 15671031]).[supplied by OMIM, Apr 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality at 2 to 3 weeks after birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Casd1 G T 6: 4,624,472 (GRCm39) E422* probably null Het
Ccdc7a T C 8: 129,607,559 (GRCm39) T1007A possibly damaging Het
Cdr1 AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC X: 60,228,130 (GRCm39) probably benign Het
Cds2 T G 2: 132,105,430 (GRCm39) probably null Het
Cfap100 G A 6: 90,392,687 (GRCm39) T141I Het
Chd7 T A 4: 8,752,628 (GRCm39) M375K unknown Het
Chd7 T A 4: 8,844,609 (GRCm39) S1573T possibly damaging Het
Cplane1 T A 15: 8,251,299 (GRCm39) V1857E probably benign Het
Crybb2 T C 5: 113,209,946 (GRCm39) E139G probably benign Het
Csn2 T C 5: 87,842,356 (GRCm39) T224A probably benign Het
Csnk2b T C 17: 35,335,304 (GRCm39) H231R possibly damaging Het
Cthrc1 A G 15: 38,940,550 (GRCm39) D51G probably benign Het
Cyp2a5 A T 7: 26,539,866 (GRCm39) T305S probably benign Het
Cyp4a29 A T 4: 115,108,099 (GRCm39) D307V probably damaging Het
Dhrs7b T C 11: 60,743,287 (GRCm39) V188A possibly damaging Het
Dna2 A G 10: 62,791,173 (GRCm39) D224G probably benign Het
Dnah7b T A 1: 46,282,584 (GRCm39) L2906M probably damaging Het
Eif4g3 A T 4: 137,878,904 (GRCm39) E545D probably benign Het
Foxq1 T C 13: 31,743,972 (GRCm39) F358S possibly damaging Het
Galnt16 C T 12: 80,648,598 (GRCm39) H557Y probably benign Het
Kcnb2 T C 1: 15,383,004 (GRCm39) M110T probably damaging Het
Ldlrad4 G T 18: 68,368,740 (GRCm39) A66S possibly damaging Het
Nalcn T C 14: 123,830,409 (GRCm39) I144V probably benign Het
Napsa T A 7: 44,234,751 (GRCm39) N295K possibly damaging Het
Nup50l C A 6: 96,142,888 (GRCm39) G52V probably damaging Het
Or2ag20 T C 7: 106,464,958 (GRCm39) V257A probably benign Het
Or5k1b G A 16: 58,581,377 (GRCm39) S54F probably benign Het
Plch1 T C 3: 63,615,164 (GRCm39) D778G probably damaging Het
Pnlip G A 19: 58,668,491 (GRCm39) V361I probably benign Het
Pou4f2 G T 8: 79,161,568 (GRCm39) A345E probably benign Het
Prr11 C T 11: 86,982,637 (GRCm39) D365N possibly damaging Het
Ptprq G T 10: 107,444,272 (GRCm39) S1444* probably null Het
R3hdm4 A T 10: 79,748,557 (GRCm39) V129E probably damaging Het
Retnlg T C 16: 48,693,261 (GRCm39) S13P probably damaging Het
Rin3 A C 12: 102,335,418 (GRCm39) H443P probably benign Het
Rnf152 T C 1: 105,212,089 (GRCm39) D156G probably benign Het
Sfmbt1 A G 14: 30,519,673 (GRCm39) probably null Het
Slc25a46 G A 18: 31,716,483 (GRCm39) R340C probably damaging Het
Sp4 A T 12: 118,264,967 (GRCm39) M1K probably null Het
Ss18l2 T C 9: 121,541,675 (GRCm39) I64T probably damaging Het
Sult2a4 G A 7: 13,649,152 (GRCm39) S219F probably damaging Het
Tnip3 A C 6: 65,515,630 (GRCm39) D25A probably damaging Het
Trac A G 14: 54,458,214 (GRCm39) T79A Het
Vmn2r36 A G 7: 7,905,415 (GRCm39) L16P probably damaging Het
Zswim2 A G 2: 83,753,911 (GRCm39) probably null Het
Other mutations in Rgmb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02939:Rgmb APN 17 16,027,755 (GRCm39) missense probably benign 0.00
IGL03338:Rgmb APN 17 16,027,565 (GRCm39) missense possibly damaging 0.90
R2504:Rgmb UTSW 17 16,027,909 (GRCm39) missense probably benign 0.00
R2991:Rgmb UTSW 17 16,041,352 (GRCm39) missense probably damaging 0.97
R4460:Rgmb UTSW 17 16,027,888 (GRCm39) missense probably benign 0.00
R4835:Rgmb UTSW 17 16,027,624 (GRCm39) missense possibly damaging 0.93
R5304:Rgmb UTSW 17 16,040,990 (GRCm39) nonsense probably null
R6235:Rgmb UTSW 17 16,041,081 (GRCm39) missense probably damaging 1.00
R6950:Rgmb UTSW 17 16,028,048 (GRCm39) missense probably damaging 1.00
R7543:Rgmb UTSW 17 16,027,777 (GRCm39) missense probably damaging 1.00
R8956:Rgmb UTSW 17 16,027,748 (GRCm39) missense probably benign
R9620:Rgmb UTSW 17 16,041,279 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTGTCTATGAGTGGCCAGGC -3'
(R):5'- TGTACCACAGACTTCGTGGC -3'

Sequencing Primer
(F):5'- GGCCCCTTCCACTTTGCATG -3'
(R):5'- TGACTGCACACCTGAACTCTG -3'
Posted On 2020-09-15