Incidental Mutation 'R6856:Rap1a'
ID 535242
Institutional Source Beutler Lab
Gene Symbol Rap1a
Ensembl Gene ENSMUSG00000068798
Gene Name RAS-related protein 1a
Synonyms Krev-1, Rap1
MMRRC Submission 044958-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.636) question?
Stock # R6856 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 105634583-105708652 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 105639384 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 92 (F92L)
Ref Sequence ENSEMBL: ENSMUSP00000142419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090678] [ENSMUST00000197094] [ENSMUST00000199969]
AlphaFold P62835
Predicted Effect probably damaging
Transcript: ENSMUST00000090678
AA Change: F158L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000088174
Gene: ENSMUSG00000068798
AA Change: F158L

DomainStartEndE-ValueType
RAS 1 168 2.68e-120 SMART
low complexity region 173 179 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000197094
AA Change: F92L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142419
Gene: ENSMUSG00000068798
AA Change: F92L

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

DomainStartEndE-ValueType
RAS 1 158 2.53e-107 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 A G 3: 151,205,755 (GRCm39) M156V probably benign Het
Aire A T 10: 77,866,089 (GRCm39) F546I probably damaging Het
Ankk1 T C 9: 49,331,320 (GRCm39) E230G probably benign Het
Anp32a A T 9: 62,279,397 (GRCm39) K86N possibly damaging Het
Aqp4 T C 18: 15,532,953 (GRCm39) I47V possibly damaging Het
Arap3 A G 18: 38,112,916 (GRCm39) V1098A possibly damaging Het
Ascc3 T A 10: 50,625,158 (GRCm39) W1652R probably damaging Het
Atad2 T A 15: 57,970,209 (GRCm39) H464L probably damaging Het
Brca2 C A 5: 150,463,673 (GRCm39) H1146N possibly damaging Het
Capn9 G A 8: 125,324,308 (GRCm39) V203M probably damaging Het
Ccr6 T A 17: 8,474,881 (GRCm39) S29T probably benign Het
Cfap99 G T 5: 34,467,561 (GRCm39) probably null Het
Cpt1c C T 7: 44,609,342 (GRCm39) G716S probably damaging Het
Dhx29 A T 13: 113,089,395 (GRCm39) Q722L probably benign Het
Dmxl1 C T 18: 49,985,355 (GRCm39) R201* probably null Het
Dsg2 G A 18: 20,734,859 (GRCm39) G946S probably damaging Het
Erg C A 16: 95,169,510 (GRCm39) probably null Het
Fbxo32 G A 15: 58,078,037 (GRCm39) probably benign Het
Gask1b G T 3: 79,793,448 (GRCm39) probably benign Het
Glis1 T G 4: 107,293,076 (GRCm39) D66E probably damaging Het
Grm6 A T 11: 50,750,652 (GRCm39) N605I probably damaging Het
Gtf3c6 T C 10: 40,125,668 (GRCm39) E183G probably benign Het
Herc1 A G 9: 66,305,180 (GRCm39) M861V probably benign Het
Igkv12-41 A T 6: 69,835,513 (GRCm39) S80T probably damaging Het
Itprid2 C T 2: 79,488,049 (GRCm39) R711C probably damaging Het
Kcnt2 T C 1: 140,523,742 (GRCm39) S1057P probably damaging Het
Krt36 T G 11: 99,994,216 (GRCm39) Q287P probably damaging Het
Ldhd A G 8: 112,356,906 (GRCm39) S13P probably benign Het
Lmtk3 T A 7: 45,443,721 (GRCm39) probably benign Het
Lrp2 A T 2: 69,343,612 (GRCm39) F916I probably damaging Het
Map4k1 A T 7: 28,686,259 (GRCm39) I92F probably damaging Het
Naa25 A T 5: 121,576,867 (GRCm39) K872M probably damaging Het
Nek3 C A 8: 22,619,463 (GRCm39) G443V probably damaging Het
Noxred1 T C 12: 87,273,810 (GRCm39) E77G probably benign Het
Nup210 G A 6: 91,064,895 (GRCm39) Q202* probably null Het
Or52d1 A T 7: 103,755,998 (GRCm39) M171L probably benign Het
Or8k27 G T 2: 86,276,251 (GRCm39) S25Y probably benign Het
Pax3 A G 1: 78,109,056 (GRCm39) S201P probably damaging Het
Pcdhgb5 T A 18: 37,866,457 (GRCm39) Y751N probably benign Het
Pign A T 1: 105,481,620 (GRCm39) L792* probably null Het
Pkd1 T C 17: 24,792,467 (GRCm39) F1385L probably benign Het
Plxnb2 A C 15: 89,048,523 (GRCm39) C629G probably benign Het
Prpsap2 A T 11: 61,621,097 (GRCm39) I328N probably benign Het
Prrc2c A G 1: 162,509,940 (GRCm39) L2317P probably damaging Het
Ptgfrn T C 3: 100,952,762 (GRCm39) D824G probably damaging Het
Ptpra G A 2: 130,361,301 (GRCm39) S204N probably damaging Het
Pygm G T 19: 6,443,787 (GRCm39) G583C probably damaging Het
Slmap A T 14: 26,151,247 (GRCm39) probably null Het
Spdye4c A G 2: 128,438,050 (GRCm39) probably null Het
Speer4a3 A G 5: 26,155,843 (GRCm39) I167T probably benign Het
Stk11 C A 10: 79,963,924 (GRCm39) F97L probably benign Het
Tbc1d9b G A 11: 50,059,573 (GRCm39) A992T probably benign Het
Tmem232 G A 17: 65,757,305 (GRCm39) T296M possibly damaging Het
Trim33 C T 3: 103,259,365 (GRCm39) T1018M probably damaging Het
Trpv2 A C 11: 62,475,441 (GRCm39) I285L probably benign Het
Usp46 A G 5: 74,189,595 (GRCm39) probably benign Het
Vmn1r27 T A 6: 58,192,432 (GRCm39) M191L possibly damaging Het
Vwf G T 6: 125,619,113 (GRCm39) E1264* probably null Het
Zfp109 A T 7: 23,928,823 (GRCm39) N195K probably benign Het
Zfp385b T A 2: 77,246,138 (GRCm39) L208F probably damaging Het
Zfp839 T A 12: 110,833,195 (GRCm39) Y515* 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
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
Predicted Primers PCR Primer
(F):5'- TACAAGCTATAGATGCTCAGACAC -3'
(R):5'- CTACTGACTGTCTAAGAGCAGC -3'

Sequencing Primer
(F):5'- GCTATAGATGCTCAGACACACAGAG -3'
(R):5'- GAGCAGCTACATATCCTTAATCGTG -3'
Posted On 2018-09-12