Incidental Mutation 'IGL03003:Rgma'
ID 407449
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rgma
Ensembl Gene ENSMUSG00000070509
Gene Name repulsive guidance molecule family member A
Synonyms RGM domain family, member A
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # IGL03003
Quality Score
Chromosome 7
Chromosomal Location 73025268-73069647 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73067188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 148 (N148D)
Ref Sequence ENSEMBL: ENSMUSP00000112599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094312] [ENSMUST00000119206] [ENSMUST00000139780]
AlphaFold Q6PCX7
Predicted Effect possibly damaging
Transcript: ENSMUST00000094312
AA Change: N258D

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000091870
Gene: ENSMUSG00000070509
AA Change: N258D

low complexity region 12 31 N/A INTRINSIC
Pfam:RGM_N 48 223 6.6e-74 PFAM
Pfam:RGM_C 227 410 1.5e-75 PFAM
low complexity region 422 430 N/A INTRINSIC
low complexity region 439 453 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000119206
AA Change: N148D

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112599
Gene: ENSMUSG00000070509
AA Change: N148D

Pfam:RGM_N 1 113 3.8e-45 PFAM
Pfam:RGM_C 117 302 1.8e-76 PFAM
low complexity region 312 320 N/A INTRINSIC
low complexity region 329 343 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000139780
AA Change: N242D

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205492
Coding Region Coverage
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 repulsive guidance molecule family. The encoded protein is a glycosylphosphatidylinositol-anchored glycoprotein that functions as an axon guidance protein in the developing and adult central nervous system. This protein may also function as a tumor suppressor in some cancers. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Inactivation of this locus results in impaired cephalic closure and subsequent exencephaly, both with incomplete penetrance. The retinal topography of the visual system is normal in homozygous mutant mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C T 1: 130,671,509 (GRCm39) P577L probably damaging Het
Aff3 A T 1: 38,248,651 (GRCm39) S819T probably damaging Het
Aftph G T 11: 20,676,982 (GRCm39) S209* probably null Het
Astn1 T A 1: 158,439,965 (GRCm39) D844E probably benign Het
Cc2d2a A G 5: 43,828,608 (GRCm39) K29E probably benign Het
Ccdc93 T C 1: 121,390,846 (GRCm39) S273P possibly damaging Het
Cd200r3 C A 16: 44,764,139 (GRCm39) H2N probably benign Het
Cd200r3 G T 16: 44,764,138 (GRCm39) M1I probably null Het
Col7a1 G A 9: 108,804,024 (GRCm39) probably null Het
Cyp3a41a T A 5: 145,642,640 (GRCm39) M240L probably benign Het
Dcstamp T C 15: 39,617,906 (GRCm39) V105A possibly damaging Het
Dmbt1 C A 7: 130,684,409 (GRCm39) P635Q probably benign Het
Dsg1a T A 18: 20,469,876 (GRCm39) M634K probably benign Het
Farp2 T C 1: 93,495,140 (GRCm39) Y138H probably damaging Het
Fga T C 3: 82,940,037 (GRCm39) S564P probably damaging Het
Gbf1 T C 19: 46,244,094 (GRCm39) L142S probably damaging Het
Gm5422 T C 10: 31,126,840 (GRCm39) noncoding transcript Het
Helz2 A G 2: 180,882,046 (GRCm39) V249A probably damaging Het
Hmcn2 C A 2: 31,323,498 (GRCm39) T4204K probably damaging Het
Ift81 T C 5: 122,732,725 (GRCm39) I270V probably benign Het
Katnip A T 7: 125,451,132 (GRCm39) I1088F probably damaging Het
Kif6 C T 17: 50,060,899 (GRCm39) R411* probably null Het
Klhl35 T A 7: 99,119,550 (GRCm39) V345D probably damaging Het
Mcm3ap C A 10: 76,340,531 (GRCm39) D1531E probably benign Het
Muc5b C A 7: 141,417,351 (GRCm39) D3432E probably benign Het
Nipbl A T 15: 8,379,798 (GRCm39) V998D probably damaging Het
Nlrc3 C A 16: 3,782,726 (GRCm39) V228L probably benign Het
Nrap T C 19: 56,310,384 (GRCm39) H1456R probably damaging Het
Nt5c1b C T 12: 10,424,910 (GRCm39) A210V possibly damaging Het
Or13a18 A G 7: 140,190,283 (GRCm39) Y60C probably damaging Het
Or1l4b T C 2: 37,036,464 (GRCm39) V80A probably benign Het
Osbpl7 T C 11: 96,941,521 (GRCm39) Y15H probably benign Het
Pde8b T A 13: 95,178,465 (GRCm39) N552Y probably damaging Het
Pi4kb T A 3: 94,892,123 (GRCm39) S280T probably benign Het
Pkd1 T A 17: 24,812,577 (GRCm39) probably null Het
Polh A T 17: 46,505,292 (GRCm39) V108E possibly damaging Het
Prob1 A G 18: 35,786,428 (GRCm39) S609P possibly damaging Het
Ptprz1 T A 6: 23,002,582 (GRCm39) N1557K probably damaging Het
Rev1 A C 1: 38,127,154 (GRCm39) F369V possibly damaging Het
Robo3 A G 9: 37,330,587 (GRCm39) L1003S probably damaging Het
Sdhb T C 4: 140,700,311 (GRCm39) V137A probably damaging Het
Sema6c T C 3: 95,076,925 (GRCm39) L337P probably damaging Het
Shc4 A T 2: 125,565,253 (GRCm39) Y15* probably null Het
Slc4a9 T C 18: 36,669,946 (GRCm39) S722P probably damaging Het
Smarcc1 A G 9: 110,035,168 (GRCm39) N864D probably damaging Het
Sspo T C 6: 48,432,021 (GRCm39) L745P probably damaging Het
Syce1l A G 8: 114,380,699 (GRCm39) D137G probably damaging Het
Tbc1d1 G T 5: 64,473,781 (GRCm39) W768L probably damaging Het
Tmbim7 A G 5: 3,711,887 (GRCm39) D7G probably benign Het
Tmem109 A C 19: 10,851,695 (GRCm39) S64A probably benign Het
Tnfrsf21 A G 17: 43,350,834 (GRCm39) R333G probably damaging Het
Ttn T G 2: 76,611,955 (GRCm39) S17316R probably damaging Het
Usp10 A G 8: 120,681,549 (GRCm39) T668A possibly damaging Het
Xirp2 T A 2: 67,345,906 (GRCm39) F2716I possibly damaging Het
Other mutations in Rgma
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01069:Rgma APN 7 73,067,239 (GRCm39) missense probably damaging 1.00
IGL01089:Rgma APN 7 73,059,462 (GRCm39) missense possibly damaging 0.79
IGL01336:Rgma APN 7 73,059,066 (GRCm39) missense possibly damaging 0.61
IGL01339:Rgma APN 7 73,067,231 (GRCm39) missense probably damaging 1.00
IGL01340:Rgma APN 7 73,067,078 (GRCm39) missense probably damaging 1.00
IGL02034:Rgma APN 7 73,067,181 (GRCm39) missense probably damaging 0.99
IGL03050:Rgma UTSW 7 73,067,263 (GRCm39) missense probably damaging 1.00
R0173:Rgma UTSW 7 73,067,302 (GRCm39) missense probably damaging 1.00
R0630:Rgma UTSW 7 73,067,366 (GRCm39) missense probably damaging 1.00
R0691:Rgma UTSW 7 73,059,160 (GRCm39) missense probably damaging 0.99
R0696:Rgma UTSW 7 73,059,160 (GRCm39) missense probably damaging 0.99
R0971:Rgma UTSW 7 73,041,246 (GRCm39) critical splice donor site probably null
R1394:Rgma UTSW 7 73,067,542 (GRCm39) missense probably benign 0.06
R1395:Rgma UTSW 7 73,067,542 (GRCm39) missense probably benign 0.06
R1707:Rgma UTSW 7 73,067,707 (GRCm39) missense unknown
R1731:Rgma UTSW 7 73,059,160 (GRCm39) missense probably damaging 0.99
R1792:Rgma UTSW 7 73,067,585 (GRCm39) missense probably damaging 0.97
R2068:Rgma UTSW 7 73,059,379 (GRCm39) missense probably damaging 0.98
R2327:Rgma UTSW 7 73,067,574 (GRCm39) missense probably damaging 1.00
R4707:Rgma UTSW 7 73,067,564 (GRCm39) missense probably damaging 1.00
R5976:Rgma UTSW 7 73,059,216 (GRCm39) missense probably damaging 0.97
R6458:Rgma UTSW 7 73,059,442 (GRCm39) missense probably damaging 1.00
R6702:Rgma UTSW 7 73,067,068 (GRCm39) missense probably damaging 1.00
R7123:Rgma UTSW 7 73,059,139 (GRCm39) missense probably damaging 1.00
R7767:Rgma UTSW 7 73,067,752 (GRCm39) missense unknown
R8169:Rgma UTSW 7 73,025,630 (GRCm39) missense probably benign 0.25
R8733:Rgma UTSW 7 73,059,036 (GRCm39) missense possibly damaging 0.81
R8794:Rgma UTSW 7 73,067,648 (GRCm39) missense probably damaging 1.00
V7732:Rgma UTSW 7 73,067,068 (GRCm39) missense probably damaging 1.00
Z1177:Rgma UTSW 7 73,059,423 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02