Incidental Mutation 'IGL03168:Rap1a'
ID 411732
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: 0.603) question?
Stock # IGL03168
Quality Score
Status
Chromosome 3
Chromosomal Location 105634583-105708652 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105657587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 11 (S11P)
Ref Sequence ENSEMBL: ENSMUSP00000088174 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090678] [ENSMUST00000197094] [ENSMUST00000198004] [ENSMUST00000199969]
AlphaFold P62835
Predicted Effect probably damaging
Transcript: ENSMUST00000090678
AA Change: S11P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088174
Gene: ENSMUSG00000068798
AA Change: S11P

DomainStartEndE-ValueType
RAS 1 168 2.68e-120 SMART
low complexity region 173 179 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000197094
AA Change: S11P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142419
Gene: ENSMUSG00000068798
AA Change: S11P

DomainStartEndE-ValueType
RAS 1 102 1.5e-45 SMART
low complexity region 107 113 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000198004
AA Change: S11P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142733
Gene: ENSMUSG00000068798
AA Change: S11P

DomainStartEndE-ValueType
RAS 1 109 1.9e-55 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000199969
AA Change: S11P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142634
Gene: ENSMUSG00000068798
AA Change: S11P

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c6 T C 13: 4,486,280 (GRCm39) V29A probably benign Het
Ankk1 C A 9: 49,327,068 (GRCm39) A704S possibly damaging Het
Aph1c G A 9: 66,740,619 (GRCm39) probably benign Het
Arglu1 T A 8: 8,733,960 (GRCm39) I119L probably benign Het
Brwd1 A T 16: 95,818,877 (GRCm39) S1318R possibly damaging Het
Calhm4 C T 10: 33,917,552 (GRCm39) V300I probably benign Het
Chd3 A G 11: 69,239,741 (GRCm39) probably benign Het
Colq T C 14: 31,246,377 (GRCm39) Y445C probably damaging Het
Cyp2a4 A T 7: 26,012,975 (GRCm39) probably benign Het
Cyp2j7 C T 4: 96,118,274 (GRCm39) M106I probably benign Het
Erfe T G 1: 91,299,164 (GRCm39) N302K probably damaging Het
Fggy A T 4: 95,815,046 (GRCm39) probably benign Het
Gata3 A G 2: 9,873,625 (GRCm39) Y290H probably damaging Het
Grik4 T C 9: 42,582,539 (GRCm39) T136A probably damaging Het
Hc G T 2: 34,914,210 (GRCm39) N832K probably benign Het
Jhy A T 9: 40,828,848 (GRCm39) S353T possibly damaging Het
Krt40 T A 11: 99,433,854 (GRCm39) Q44L possibly damaging Het
Ksr2 T C 5: 117,886,846 (GRCm39) F794S probably damaging Het
Or2l13 A T 16: 19,305,969 (GRCm39) H127L probably benign Het
Or2n1e A C 17: 38,585,682 (GRCm39) S7R probably damaging Het
Or4p7 A G 2: 88,221,938 (GRCm39) M116V probably damaging Het
Or5ac16 A G 16: 59,022,610 (GRCm39) Y60H probably damaging Het
Or5t9 A G 2: 86,659,607 (GRCm39) I170M possibly damaging Het
Or8b1c A G 9: 38,384,315 (GRCm39) T91A probably benign Het
Pcdhb17 A G 18: 37,618,825 (GRCm39) E205G probably benign Het
Pon3 A T 6: 5,256,177 (GRCm39) I17K possibly damaging Het
Prkd2 A G 7: 16,584,188 (GRCm39) D347G possibly damaging Het
Prkdc A G 16: 15,652,030 (GRCm39) I3806V probably benign Het
Qpct C A 17: 79,359,753 (GRCm39) A20E unknown Het
Rnf145 C A 11: 44,445,985 (GRCm39) T273K probably damaging Het
Speg T C 1: 75,364,831 (GRCm39) I298T probably damaging Het
Syt6 G A 3: 103,494,943 (GRCm39) V303M probably damaging Het
Tpr A G 1: 150,284,508 (GRCm39) I324M probably benign Het
Uggt2 A G 14: 119,315,080 (GRCm39) F330L probably damaging Het
Unc45a A T 7: 79,982,881 (GRCm39) L348Q probably damaging Het
Vmn1r17 T A 6: 57,337,583 (GRCm39) I212F probably benign Het
Vmn2r68 A C 7: 84,870,972 (GRCm39) N770K probably damaging Het
Zfhx3 T C 8: 109,673,132 (GRCm39) V1394A probably damaging Het
Other mutations in Rap1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01135:Rap1a APN 3 105,639,351 (GRCm39) missense probably benign 0.01
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 2016-08-02