Incidental Mutation 'R6136:Rap1a'
ID 488337
Institutional Source Beutler Lab
Gene Symbol Rap1a
Ensembl Gene ENSMUSG00000068798
Gene Name RAS-related protein 1a
Synonyms Krev-1, Rap1
MMRRC Submission 044283-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.603) question?
Stock # R6136 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 105634583-105708652 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105657598 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 7 (V7A)
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: V7A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000088174
Gene: ENSMUSG00000068798
AA Change: V7A

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: V7A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142419
Gene: ENSMUSG00000068798
AA Change: V7A

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: V7A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142733
Gene: ENSMUSG00000068798
AA Change: V7A

DomainStartEndE-ValueType
RAS 1 109 1.9e-55 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000199969
AA Change: V7A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142634
Gene: ENSMUSG00000068798
AA Change: V7A

DomainStartEndE-ValueType
RAS 1 158 2.53e-107 SMART
Meta Mutation Damage Score 0.6445 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 98% (52/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik C A 4: 124,504,181 (GRCm39) G124C unknown Het
3425401B19Rik A T 14: 32,384,239 (GRCm39) D575E possibly damaging Het
Abca15 A T 7: 119,939,272 (GRCm39) H222L possibly damaging Het
Arhgef18 T C 8: 3,504,507 (GRCm39) V1013A probably benign Het
Arsj T C 3: 126,158,424 (GRCm39) M1T probably null Het
Atp10a A C 7: 58,478,088 (GRCm39) Q1377P probably benign Het
Atrip T A 9: 108,900,804 (GRCm39) E178D probably damaging Het
Cblif G A 19: 11,727,649 (GRCm39) A158T probably damaging Het
Chadl T C 15: 81,577,755 (GRCm39) N625D probably benign Het
Chrng G A 1: 87,137,523 (GRCm39) V320I probably benign Het
Cox11 T C 11: 90,535,221 (GRCm39) L84P probably damaging Het
Dchs1 T G 7: 105,410,132 (GRCm39) T1747P probably benign Het
Dnah12 A G 14: 26,597,227 (GRCm39) K3529E probably damaging Het
Ecd T C 14: 20,370,859 (GRCm39) N620S probably damaging Het
Fbn1 T A 2: 125,245,052 (GRCm39) K278N possibly damaging Het
Fcho2 T C 13: 98,926,275 (GRCm39) K103E probably damaging Het
Fzd7 T G 1: 59,522,419 (GRCm39) F101V probably damaging Het
Galnt13 G T 2: 54,406,491 (GRCm39) probably benign Het
Gm32647 C T 7: 94,124,939 (GRCm39) Het
Gm5624 A T 14: 44,797,333 (GRCm39) D152E probably benign Het
Heatr6 T A 11: 83,663,329 (GRCm39) V664E possibly damaging Het
Hpgd A G 8: 56,747,987 (GRCm39) D36G probably damaging Het
Ifnlr1 A G 4: 135,431,108 (GRCm39) T199A possibly damaging Het
Kalrn T G 16: 34,177,481 (GRCm39) D228A probably damaging Het
Miox T C 15: 89,219,524 (GRCm39) M47T probably damaging Het
Nampt A T 12: 32,880,301 (GRCm39) I65F probably benign Het
Ncf1 T C 5: 134,255,487 (GRCm39) K135E probably damaging Het
Nop53 G A 7: 15,672,314 (GRCm39) Q452* probably null Het
Or8u10 A G 2: 85,915,245 (GRCm39) L292S probably damaging Het
Pik3cg A G 12: 32,254,358 (GRCm39) V543A probably benign Het
Ralgds T C 2: 28,440,577 (GRCm39) probably null Het
Rasal1 T C 5: 120,813,543 (GRCm39) V639A possibly damaging Het
Rassf8 A G 6: 145,761,382 (GRCm39) N236S probably benign Het
Rbm47 G C 5: 66,183,626 (GRCm39) R326G probably damaging Het
Sbno1 T C 5: 124,516,554 (GRCm39) D1272G probably benign Het
Setx A G 2: 29,038,039 (GRCm39) D1508G probably benign Het
Slc1a1 T A 19: 28,882,810 (GRCm39) L358Q probably damaging Het
Slc7a12 C A 3: 14,564,186 (GRCm39) L20I probably benign Het
Spata31g1 T C 4: 42,972,853 (GRCm39) S729P probably damaging Het
Spats2l C T 1: 57,941,302 (GRCm39) T187M probably damaging Het
Specc1l A G 10: 75,082,494 (GRCm39) D647G probably benign Het
Steap4 G A 5: 8,028,562 (GRCm39) R380Q probably damaging Het
Syne2 A G 12: 75,952,099 (GRCm39) S456G probably benign Het
Tfcp2 G T 15: 100,410,194 (GRCm39) T391N probably damaging Het
Tns2 T A 15: 102,015,465 (GRCm39) D122E probably damaging Het
Tshr A G 12: 91,505,008 (GRCm39) M649V probably benign Het
Ubr3 A G 2: 69,824,107 (GRCm39) T1440A probably benign Het
Urb2 A G 8: 124,756,831 (GRCm39) D846G probably benign Het
Vmn1r202 T C 13: 22,685,632 (GRCm39) T262A possibly damaging Het
Vmn2r61 G T 7: 41,916,455 (GRCm39) W356L probably damaging Het
Wdr11 T A 7: 129,220,427 (GRCm39) M605K possibly damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Other mutations in Rap1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01135:Rap1a APN 3 105,639,351 (GRCm39) missense probably benign 0.01
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
R6251:Rap1a UTSW 3 105,639,311 (GRCm39) nonsense probably null
R6856:Rap1a UTSW 3 105,639,384 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTCTAACGCTATACCTCTTTGG -3'
(R):5'- ATTAAAGAGTCTGGGACTGGTCC -3'

Sequencing Primer
(F):5'- CGCTATACCTCTTTGGCTACAAATAG -3'
(R):5'- GGACTGGTCCTATAAAGCTATTATTG -3'
Posted On 2017-10-10