Incidental Mutation 'IGL01135:Rap1a'
ID50780
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rap1a
Ensembl Gene ENSMUSG00000068798
Gene NameRAS-related protein 1a
SynonymsRap1, Krev-1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.438) question?
Stock #IGL01135
Quality Score
Status
Chromosome3
Chromosomal Location105727267-105801336 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 105732035 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 103 (T103S)
Ref Sequence ENSEMBL: ENSMUSP00000142419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090678] [ENSMUST00000197094] [ENSMUST00000199969]
Predicted Effect probably benign
Transcript: ENSMUST00000090678
AA Change: T169S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000088174
Gene: ENSMUSG00000068798
AA Change: T169S

DomainStartEndE-ValueType
RAS 1 168 2.68e-120 SMART
low complexity region 173 179 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000197094
AA Change: T103S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000142419
Gene: ENSMUSG00000068798
AA Change: T103S

DomainStartEndE-ValueType
RAS 1 102 1.5e-45 SMART
low complexity region 107 113 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198060
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198544
Predicted Effect probably benign
Transcript: ENSMUST00000199969
SMART Domains Protein: ENSMUSP00000142634
Gene: ENSMUSG00000068798

DomainStartEndE-ValueType
RAS 1 158 2.53e-107 SMART
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 Ras family of small GTPases. The encoded protein undergoes a change in conformational state and activity, depending on whether it is bound to GTP or GDP. This protein is activated by several types of guanine nucleotide exchange factors (GEFs), and inactivated by two groups of GTPase-activating proteins (GAPs). The activation status of the encoded protein is therefore affected by the balance of intracellular levels of GEFs and GAPs. The encoded protein regulates signaling pathways that affect cell proliferation and adhesion, and may play a role in tumor malignancy. Pseudogenes of this gene have been defined on chromosomes 14 and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit impaired leukocyte migration and decreased angiogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
5730507C01Rik G A 12: 18,533,374 R145H possibly damaging Het
Acox3 T A 5: 35,588,752 V93E probably benign Het
Ankar T C 1: 72,665,219 N848S probably benign Het
Blzf1 A G 1: 164,303,930 probably benign Het
Cc2d1a G T 8: 84,143,404 H161N probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Ckmt1 A C 2: 121,361,150 D267A probably damaging Het
Dtl G T 1: 191,548,330 T364K probably damaging Het
Fam46a A G 9: 85,326,599 V57A probably damaging Het
Fat1 T A 8: 45,024,840 F2308I probably damaging Het
Fbxo41 A T 6: 85,477,908 S673T probably benign Het
Flnb G A 14: 7,909,736 V1397I probably benign Het
Gdi2 A G 13: 3,548,855 probably benign Het
Gm5155 A T 7: 17,902,471 noncoding transcript Het
Grik3 C T 4: 125,632,415 T147I probably benign Het
Htr1a T C 13: 105,445,284 V344A possibly damaging Het
Isg20l2 A T 3: 87,931,761 D93V probably damaging Het
Kcnt2 T C 1: 140,354,555 probably null Het
Mfsd4b3 A G 10: 39,948,072 M64T probably benign Het
Nox3 T A 17: 3,696,252 probably benign Het
Olfr693 C T 7: 106,678,193 A98T probably benign Het
Pikfyve T A 1: 65,251,635 N1204K probably damaging Het
Pou4f3 C T 18: 42,395,966 Q325* probably null Het
Rfc4 G A 16: 23,115,776 R165C probably damaging Het
Smtnl1 A G 2: 84,818,887 S8P probably benign Het
Syt17 C T 7: 118,382,047 G351S possibly damaging Het
Tcf20 T A 15: 82,853,900 M1117L probably benign Het
Tgfbr3 A T 5: 107,215,028 H39Q probably damaging Het
Trdmt1 T C 2: 13,521,260 probably null Het
Twf2 A G 9: 106,212,828 I127V probably benign Het
Unc13c A G 9: 73,484,893 V2059A probably damaging Het
Other mutations in Rap1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03168:Rap1a APN 3 105750271 missense probably damaging 1.00
R2139:Rap1a UTSW 3 105739540 missense probably damaging 0.98
R5802:Rap1a UTSW 3 105745936 missense probably damaging 1.00
R5906:Rap1a UTSW 3 105737765 missense possibly damaging 0.90
R5941:Rap1a UTSW 3 105732069 missense possibly damaging 0.82
R6051:Rap1a UTSW 3 105750297 missense possibly damaging 0.91
R6136:Rap1a UTSW 3 105750282 missense probably damaging 1.00
R6251:Rap1a UTSW 3 105731995 nonsense probably null
R6856:Rap1a UTSW 3 105732068 missense probably damaging 1.00
Posted On2013-06-21