Incidental Mutation 'IGL02434:Reps2'
ID 293232
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Reps2
Ensembl Gene ENSMUSG00000040855
Gene Name RALBP1 associated Eps domain containing protein 2
Synonyms POB1
Accession Numbers
Essential gene? Not available question?
Stock # IGL02434
Quality Score
Status
Chromosome X
Chromosomal Location 161194950-161426645 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 161309253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101102] [ENSMUST00000112334] [ENSMUST00000154424]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000101102
SMART Domains Protein: ENSMUSP00000098661
Gene: ENSMUSG00000040855

DomainStartEndE-ValueType
low complexity region 4 17 N/A INTRINSIC
low complexity region 33 47 N/A INTRINSIC
low complexity region 50 63 N/A INTRINSIC
internal_repeat_1 64 112 5.89e-5 PROSPERO
low complexity region 174 188 N/A INTRINSIC
low complexity region 222 231 N/A INTRINSIC
EH 262 357 1.47e-40 SMART
low complexity region 465 472 N/A INTRINSIC
low complexity region 489 512 N/A INTRINSIC
low complexity region 571 581 N/A INTRINSIC
coiled coil region 590 644 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000112334
SMART Domains Protein: ENSMUSP00000107953
Gene: ENSMUSG00000040855

DomainStartEndE-ValueType
low complexity region 4 17 N/A INTRINSIC
low complexity region 33 47 N/A INTRINSIC
low complexity region 50 63 N/A INTRINSIC
internal_repeat_1 64 112 8.66e-5 PROSPERO
low complexity region 173 187 N/A INTRINSIC
low complexity region 221 230 N/A INTRINSIC
EH 261 356 1.47e-40 SMART
low complexity region 464 471 N/A INTRINSIC
low complexity region 488 511 N/A INTRINSIC
low complexity region 570 580 N/A INTRINSIC
coiled coil region 589 643 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000154424
SMART Domains Protein: ENSMUSP00000114744
Gene: ENSMUSG00000040855

DomainStartEndE-ValueType
Blast:EH 11 59 4e-23 BLAST
low complexity region 106 120 N/A INTRINSIC
low complexity region 154 163 N/A INTRINSIC
EH 194 289 1.47e-40 SMART
low complexity region 369 382 N/A INTRINSIC
low complexity region 441 451 N/A INTRINSIC
coiled coil region 460 514 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155863
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is part of a protein complex that regulates the endocytosis of growth factor receptors. The encoded protein directly interacts with a GTPase activating protein that functions downstream of the small G protein Ral. Its expression can negatively affect receptor internalization and inhibit growth factor signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 C A 15: 72,992,930 (GRCm39) G525V probably damaging Het
Agxt2 T C 15: 10,358,686 (GRCm39) S2P possibly damaging Het
Atg2b C T 12: 105,605,466 (GRCm39) V339I probably benign Het
Btc T A 5: 91,510,186 (GRCm39) I136F probably damaging Het
Cemip A T 7: 83,604,492 (GRCm39) M850K probably damaging Het
Cfap54 T A 10: 92,902,616 (GRCm39) T179S probably benign Het
Chd7 T C 4: 8,752,145 (GRCm39) L214P probably benign Het
Garnl3 T A 2: 32,944,217 (GRCm39) N114I probably damaging Het
Gm10010 G T 6: 128,177,433 (GRCm39) noncoding transcript Het
Gstcd A G 3: 132,701,963 (GRCm39) probably benign Het
Htr2b A G 1: 86,038,492 (GRCm39) V38A probably benign Het
Hyal4 G A 6: 24,763,857 (GRCm39) W339* probably null Het
Ifnb1 A G 4: 88,440,755 (GRCm39) V86A probably damaging Het
Itpr1 A G 6: 108,466,883 (GRCm39) probably null Het
Jag1 T C 2: 136,929,075 (GRCm39) S794G probably benign Het
Kdm5c T A X: 151,016,558 (GRCm39) M1K probably null Het
Lct A G 1: 128,231,527 (GRCm39) V774A probably damaging Het
Man2a2 G A 7: 80,009,388 (GRCm39) A822V probably damaging Het
Med14 A T X: 12,612,063 (GRCm39) D371E possibly damaging Het
Nrcam A G 12: 44,637,026 (GRCm39) probably benign Het
Or14j10 T A 17: 37,935,467 (GRCm39) N20Y possibly damaging Het
Or52e18 A T 7: 104,609,279 (GRCm39) M220K probably benign Het
Or52e18 A T 7: 104,609,281 (GRCm39) Y219* probably null Het
Pitpnm1 C T 19: 4,153,377 (GRCm39) R178W probably benign Het
Prb1b T A 6: 132,289,339 (GRCm39) R162W unknown Het
Prkcg A G 7: 3,367,406 (GRCm39) I324V probably benign Het
Prr30 A T 14: 101,435,804 (GRCm39) C253S possibly damaging Het
Ptgis A T 2: 167,082,262 (GRCm39) probably null Het
Rab11fip3 C T 17: 26,287,809 (GRCm39) A115T possibly damaging Het
Rev3l A G 10: 39,698,587 (GRCm39) D1028G probably damaging Het
Rsbn1l T C 5: 21,124,732 (GRCm39) R357G probably damaging Het
Scn5a A G 9: 119,362,859 (GRCm39) L587P possibly damaging Het
Tanc2 C T 11: 105,670,868 (GRCm39) T155I probably benign Het
Tfb2m A G 1: 179,359,700 (GRCm39) probably benign Het
Tfpi A G 2: 84,282,892 (GRCm39) probably benign Het
Tg T C 15: 66,636,191 (GRCm39) S593P probably damaging Het
Unc13c T C 9: 73,839,910 (GRCm39) S314G probably benign Het
Other mutations in Reps2
AlleleSourceChrCoordTypePredicted EffectPPH Score
Z1176:Reps2 UTSW X 161,305,964 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16