Incidental Mutation 'IGL01135:Rap1a'
ID 50780
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rap1a
Ensembl Gene ENSMUSG00000068798
Gene Name RAS-related protein 1a
Synonyms Krev-1, Rap1
Accession Numbers
Essential gene? Possibly essential (E-score: 0.636) question?
Stock # IGL01135
Quality Score
Status
Chromosome 3
Chromosomal Location 105634583-105708652 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105639351 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P62835
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: 76,834,475 (GRCm39) V124I probably damaging Het
5730507C01Rik G A 12: 18,583,375 (GRCm39) R145H possibly damaging Het
Acox3 T A 5: 35,746,096 (GRCm39) V93E probably benign Het
Ankar T C 1: 72,704,378 (GRCm39) N848S probably benign Het
Blzf1 A G 1: 164,131,499 (GRCm39) probably benign Het
Cc2d1a G T 8: 84,870,033 (GRCm39) H161N probably benign Het
Ceacam23 A T 7: 17,636,396 (GRCm39) noncoding transcript Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Ckmt1 A C 2: 121,191,631 (GRCm39) D267A probably damaging Het
Dtl G T 1: 191,280,442 (GRCm39) T364K probably damaging Het
Fat1 T A 8: 45,477,877 (GRCm39) F2308I probably damaging Het
Fbxo41 A T 6: 85,454,890 (GRCm39) S673T probably benign Het
Flnb G A 14: 7,909,736 (GRCm38) V1397I probably benign Het
Gdi2 A G 13: 3,598,855 (GRCm39) probably benign Het
Grik3 C T 4: 125,526,208 (GRCm39) T147I probably benign Het
Htr1a T C 13: 105,581,792 (GRCm39) V344A possibly damaging Het
Isg20l2 A T 3: 87,839,068 (GRCm39) D93V probably damaging Het
Kcnt2 T C 1: 140,282,293 (GRCm39) probably null Het
Mfsd4b3-ps A G 10: 39,824,068 (GRCm39) M64T probably benign Het
Nox3 T A 17: 3,746,527 (GRCm39) probably benign Het
Or2ag12 C T 7: 106,277,400 (GRCm39) A98T probably benign Het
Pikfyve T A 1: 65,290,794 (GRCm39) N1204K probably damaging Het
Pou4f3 C T 18: 42,529,031 (GRCm39) Q325* probably null Het
Rfc4 G A 16: 22,934,526 (GRCm39) R165C probably damaging Het
Smtnl1 A G 2: 84,649,231 (GRCm39) S8P probably benign Het
Syt17 C T 7: 117,981,270 (GRCm39) G351S possibly damaging Het
Tcf20 T A 15: 82,738,101 (GRCm39) M1117L probably benign Het
Tent5a A G 9: 85,208,652 (GRCm39) V57A probably damaging Het
Tgfbr3 A T 5: 107,362,894 (GRCm39) H39Q probably damaging Het
Trdmt1 T C 2: 13,526,071 (GRCm39) probably null Het
Twf2 A G 9: 106,090,027 (GRCm39) I127V probably benign Het
Unc13c A G 9: 73,392,175 (GRCm39) V2059A probably damaging Het
Other mutations in Rap1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03168:Rap1a APN 3 105,657,587 (GRCm39) missense probably damaging 1.00
R2139:Rap1a UTSW 3 105,646,856 (GRCm39) missense probably damaging 0.98
R5802:Rap1a UTSW 3 105,653,252 (GRCm39) missense probably damaging 1.00
R5906:Rap1a UTSW 3 105,645,081 (GRCm39) missense possibly damaging 0.90
R5941:Rap1a UTSW 3 105,639,385 (GRCm39) missense possibly damaging 0.82
R6051:Rap1a UTSW 3 105,657,613 (GRCm39) missense possibly damaging 0.91
R6136:Rap1a UTSW 3 105,657,598 (GRCm39) missense probably damaging 1.00
R6251:Rap1a UTSW 3 105,639,311 (GRCm39) nonsense probably null
R6856:Rap1a UTSW 3 105,639,384 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21