Incidental Mutation 'R4460:Rgmb'
ID 330121
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 041719-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4460 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 16024923-16051508 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 16027888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 277 (R277L)
Ref Sequence ENSEMBL: ENSMUSP00000126177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170578]
AlphaFold Q7TQ33
Predicted Effect probably benign
Transcript: ENSMUST00000170578
AA Change: R277L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000126177
Gene: ENSMUSG00000048027
AA Change: R277L

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 noncoding transcript
Transcript: ENSMUST00000231906
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Btbd8 A G 5: 107,651,631 (GRCm39) T687A possibly damaging Het
C030048H21Rik A G 2: 26,145,875 (GRCm39) probably null Het
Cav1 A G 6: 17,306,471 (GRCm39) D8G probably damaging Het
Celf6 G A 9: 59,510,327 (GRCm39) R103H probably damaging Het
Ctr9 A G 7: 110,646,101 (GRCm39) I698V probably benign Het
Cts6 G C 13: 61,343,272 (GRCm39) I316M probably benign Het
Dnajc13 C A 9: 104,058,262 (GRCm39) R1496L probably damaging Het
Dscam A G 16: 96,411,519 (GRCm39) Y1786H probably damaging Het
Fcgbpl1 C T 7: 27,852,281 (GRCm39) T1268I probably benign Het
Itga2 C G 13: 114,980,019 (GRCm39) D1061H probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Klhl26 T C 8: 70,904,194 (GRCm39) Y538C probably damaging Het
Ltk A G 2: 119,586,094 (GRCm39) probably null Het
Med20 T C 17: 47,929,842 (GRCm39) V93A probably benign Het
Mmp9 G T 2: 164,790,958 (GRCm39) K115N probably damaging Het
Mroh5 A T 15: 73,663,645 (GRCm39) D339E probably damaging Het
Muc1 A T 3: 89,138,870 (GRCm39) D493V probably damaging Het
Mx1 G T 16: 97,255,281 (GRCm39) S113R probably damaging Het
Nlrp9c T A 7: 26,077,523 (GRCm39) H698L probably damaging Het
Nol9 T G 4: 152,142,293 (GRCm39) L641R probably damaging Het
Pla2g4e T G 2: 120,016,863 (GRCm39) H226P possibly damaging Het
Pou2f1 A G 1: 165,722,575 (GRCm39) F337L probably damaging Het
Prkn A T 17: 12,280,533 (GRCm39) D463V probably damaging Het
Ptcd1 G T 5: 145,096,316 (GRCm39) A259E probably benign Het
Ptov1 T C 7: 44,515,000 (GRCm39) M204V probably benign Het
Rasal2 A G 1: 157,003,402 (GRCm39) F419S possibly damaging Het
Rbbp8nl A G 2: 179,922,764 (GRCm39) S210P probably benign Het
Snx2 A G 18: 53,309,516 (GRCm39) E22G probably benign Het
Snx30 A T 4: 59,885,022 (GRCm39) R221* probably null Het
Tmem143 C T 7: 45,556,376 (GRCm39) T97I probably damaging Het
Ttn A C 2: 76,644,991 (GRCm39) F12955V probably damaging Het
Ubr2 C T 17: 47,255,971 (GRCm39) probably null Het
Vmn1r203 T A 13: 22,708,852 (GRCm39) M211K probably damaging Het
Vmn2r121 G A X: 123,038,281 (GRCm39) P580S probably benign Het
Zfp804b A T 5: 6,821,481 (GRCm39) D491E probably damaging 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
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
R7983:Rgmb UTSW 17 16,041,189 (GRCm39) missense possibly damaging 0.95
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'- AGTCTCCAGTGTGTAGCCAG -3'
(R):5'- GATTATCTTCAAAGCACAGCACG -3'

Sequencing Primer
(F):5'- TGTGCCCCAGGATAGCAGAC -3'
(R):5'- CACGAGTGCACGGATCAG -3'
Posted On 2015-07-21