Incidental Mutation 'R6051:Rap1a'
ID 484077
Institutional Source Beutler Lab
Gene Symbol Rap1a
Ensembl Gene ENSMUSG00000068798
Gene Name RAS-related protein 1a
Synonyms Krev-1, Rap1
MMRRC Submission 044219-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.603) question?
Stock # R6051 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 105634583-105708652 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 105657613 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 2 (R2H)
Ref Sequence ENSEMBL: ENSMUSP00000142419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090678] [ENSMUST00000197094] [ENSMUST00000198004] [ENSMUST00000199969]
AlphaFold P62835
Predicted Effect probably benign
Transcript: ENSMUST00000090678
AA Change: R2H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000088174
Gene: ENSMUSG00000068798
AA Change: R2H

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: R2H

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142419
Gene: ENSMUSG00000068798
AA Change: R2H

DomainStartEndE-ValueType
RAS 1 102 1.5e-45 SMART
low complexity region 107 113 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000198004
AA Change: R2H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142733
Gene: ENSMUSG00000068798
AA Change: R2H

DomainStartEndE-ValueType
RAS 1 109 1.9e-55 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199969
AA Change: R2H

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000142634
Gene: ENSMUSG00000068798
AA Change: R2H

DomainStartEndE-ValueType
RAS 1 158 2.53e-107 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,231,304 (GRCm39) A1021S possibly damaging Het
Abl2 A G 1: 156,469,655 (GRCm39) D869G probably damaging Het
Adamts9 G A 6: 92,836,907 (GRCm39) A615V possibly damaging Het
Adamts9 A G 6: 92,867,099 (GRCm39) Y96H probably damaging Het
Arhgef37 A G 18: 61,640,345 (GRCm39) I238T probably damaging Het
Atr T A 9: 95,790,422 (GRCm39) H1587Q possibly damaging Het
BB014433 T C 8: 15,092,179 (GRCm39) T225A possibly damaging Het
Bcas2 T C 3: 103,081,657 (GRCm39) Y87H possibly damaging Het
Brca1 C T 11: 101,415,072 (GRCm39) E160K probably damaging Het
Cd2ap T C 17: 43,107,219 (GRCm39) *638W probably null Het
Chd2 A T 7: 73,085,590 (GRCm39) D1681E probably benign Het
Cit C T 5: 115,984,464 (GRCm39) P12L probably benign Het
Cracdl G T 1: 37,663,306 (GRCm39) P864Q probably damaging Het
Crisp1 T C 17: 40,616,017 (GRCm39) Y120C possibly damaging Het
Cyp2c65 A G 19: 39,049,610 (GRCm39) D46G probably benign Het
Cyp2d34 A T 15: 82,500,971 (GRCm39) V387D probably damaging Het
E130311K13Rik T C 3: 63,823,062 (GRCm39) H194R probably benign Het
Egfr C A 11: 16,833,607 (GRCm39) T625N possibly damaging Het
Fat3 A G 9: 16,286,751 (GRCm39) V924A possibly damaging Het
Fgd6 T C 10: 93,973,427 (GRCm39) probably null Het
Galnt6 A T 15: 100,592,549 (GRCm39) C553S probably damaging Het
Gm5617 T C 9: 48,407,187 (GRCm39) L107P possibly damaging Het
Hectd1 G T 12: 51,800,887 (GRCm39) T2035N probably benign Het
Hp1bp3 A G 4: 137,961,615 (GRCm39) T154A possibly damaging Het
Il10rb A G 16: 91,218,752 (GRCm39) T262A probably benign Het
Kansl1l A T 1: 66,765,885 (GRCm39) N704K probably null Het
Kbtbd12 T C 6: 88,594,930 (GRCm39) D300G possibly damaging Het
Lama4 G A 10: 38,943,898 (GRCm39) A734T probably benign Het
Mllt6 G T 11: 97,571,569 (GRCm39) G1069* probably null Het
Mns1 T C 9: 72,356,735 (GRCm39) L302P probably damaging Het
Muc5ac T A 7: 141,365,594 (GRCm39) C2039S possibly damaging Het
Myof A G 19: 38,012,809 (GRCm39) L42P probably damaging Het
Ncoa3 T C 2: 165,900,685 (GRCm39) L868S probably damaging Het
Ndc80 C T 17: 71,824,573 (GRCm39) G212E probably benign Het
Ntn4 A G 10: 93,581,657 (GRCm39) H610R probably benign Het
Nufip2 T A 11: 77,582,742 (GRCm39) Y219N probably damaging Het
Or51m1 T C 7: 103,578,084 (GRCm39) F18S probably damaging Het
Pbxip1 T C 3: 89,350,477 (GRCm39) S41P probably benign Het
Phactr2 A T 10: 13,137,555 (GRCm39) C196S probably null Het
Ppp3ca T A 3: 136,581,883 (GRCm39) Y140N probably damaging Het
Ptprb C A 10: 116,176,995 (GRCm39) Y1260* probably null Het
Rbbp8 G A 18: 11,871,664 (GRCm39) V794I probably benign Het
Rbks T C 5: 31,809,163 (GRCm39) N200S probably damaging Het
Relch G T 1: 105,648,997 (GRCm39) G712V probably damaging Het
Rnf186 G T 4: 138,695,277 (GRCm39) K272N probably damaging Het
Rtl1 G A 12: 109,559,458 (GRCm39) P794S probably damaging Het
Tbc1d30 T A 10: 121,132,750 (GRCm39) I205F probably damaging Het
Tkt C T 14: 30,290,153 (GRCm39) P261S probably benign Het
Trp53 G A 11: 69,480,434 (GRCm39) R267H possibly damaging Het
Ttc14 T C 3: 33,863,073 (GRCm39) probably benign Het
Ttn A G 2: 76,737,805 (GRCm39) S4245P probably benign Het
Vmn1r75 A T 7: 11,614,978 (GRCm39) I237F probably damaging Het
Vmn2r57 T A 7: 41,097,896 (GRCm39) H57L probably benign Het
Wdr62 T C 7: 29,960,809 (GRCm39) N40S possibly damaging Het
Xcr1 A T 9: 123,685,181 (GRCm39) F194I probably benign Het
Zmiz1 T A 14: 25,572,494 (GRCm39) M1K probably null 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
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
Predicted Primers PCR Primer
(F):5'- GCCAGTCTAACGCTATACCTC -3'
(R):5'- TTAAAGAGTCTGGGACTGGTCC -3'

Sequencing Primer
(F):5'- CGCTATACCTCTTTGGCTACAAATAG -3'
(R):5'- GGACTGGTCCTATAAAGCTATTATTG -3'
Posted On 2017-07-14