Incidental Mutation 'IGL02434:Reps2'
ID293232
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Reps2
Ensembl Gene ENSMUSG00000040855
Gene NameRALBP1 associated Eps domain containing protein 2
SynonymsPOB1
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02434
Quality Score
Status
ChromosomeX
Chromosomal Location162411954-162643649 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 162526257 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101102] [ENSMUST00000112334] [ENSMUST00000154424]
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: 73,121,081 G525V probably damaging Het
Agxt2 T C 15: 10,358,600 S2P possibly damaging Het
Atg2b C T 12: 105,639,207 V339I probably benign Het
Btc T A 5: 91,362,327 I136F probably damaging Het
Cemip A T 7: 83,955,284 M850K probably damaging Het
Cfap54 T A 10: 93,066,754 T179S probably benign Het
Chd7 T C 4: 8,752,145 L214P probably benign Het
Garnl3 T A 2: 33,054,205 N114I probably damaging Het
Gm10010 G T 6: 128,200,470 noncoding transcript Het
Gstcd A G 3: 132,996,202 probably benign Het
Htr2b A G 1: 86,110,770 V38A probably benign Het
Hyal4 G A 6: 24,763,858 W339* probably null Het
Ifnb1 A G 4: 88,522,518 V86A probably damaging Het
Itpr1 A G 6: 108,489,922 probably null Het
Jag1 T C 2: 137,087,155 S794G probably benign Het
Kdm5c T A X: 152,233,562 M1K probably null Het
Lct A G 1: 128,303,790 V774A probably damaging Het
Man2a2 G A 7: 80,359,640 A822V probably damaging Het
Med14 A T X: 12,745,824 D371E possibly damaging Het
Nrcam A G 12: 44,590,243 probably benign Het
Olfr116 T A 17: 37,624,576 N20Y possibly damaging Het
Olfr670 A T 7: 104,960,072 M220K probably benign Het
Olfr670 A T 7: 104,960,074 Y219* probably null Het
Pitpnm1 C T 19: 4,103,377 R178W probably benign Het
Prkcg A G 7: 3,318,890 I324V probably benign Het
Prpmp5 T A 6: 132,312,376 R162W unknown Het
Prr30 A T 14: 101,198,368 C253S possibly damaging Het
Ptgis A T 2: 167,240,342 probably null Het
Rab11fip3 C T 17: 26,068,835 A115T possibly damaging Het
Rev3l A G 10: 39,822,591 D1028G probably damaging Het
Rsbn1l T C 5: 20,919,734 R357G probably damaging Het
Scn5a A G 9: 119,533,793 L587P possibly damaging Het
Tanc2 C T 11: 105,780,042 T155I probably benign Het
Tfb2m A G 1: 179,532,135 probably benign Het
Tfpi A G 2: 84,452,548 probably benign Het
Tg T C 15: 66,764,342 S593P probably damaging Het
Unc13c T C 9: 73,932,628 S314G probably benign Het
Other mutations in Reps2
AlleleSourceChrCoordTypePredicted EffectPPH Score
Z1176:Reps2 UTSW X 162522968 missense probably damaging 1.00
Posted On2015-04-16