Incidental Mutation 'R1715:Rap2b'
ID 190914
Institutional Source Beutler Lab
Gene Symbol Rap2b
Ensembl Gene ENSMUSG00000036894
Gene Name RAP2B, member of RAS oncogene family
Synonyms 4021402C18Rik
MMRRC Submission 039748-MU
Accession Numbers
Essential gene? Not available question?
Stock # R1715 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 61271928-61276124 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61272611 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 45 (E45G)
Ref Sequence ENSEMBL: ENSMUSP00000038841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049064] [ENSMUST00000066298]
AlphaFold P61226
Predicted Effect probably damaging
Transcript: ENSMUST00000049064
AA Change: E45G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038841
Gene: ENSMUSG00000036894
AA Change: E45G

DomainStartEndE-ValueType
RAS 1 167 3.08e-111 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000066298
SMART Domains Protein: ENSMUSP00000070175
Gene: ENSMUSG00000053706

DomainStartEndE-ValueType
low complexity region 95 103 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194223
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene belongs to a family of RAS-related genes. The proteins encoded by these genes share approximately 50% amino acid identity with the classical RAS proteins and have numerous structural features in common. The most striking difference between the RAP and RAS proteins resides in their 61st amino acid: glutamine in RAS is replaced by threonine in RAP proteins. Evidence suggests that this protein may be polyisoprenylated and palmitoylated. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G A 11: 109,982,406 (GRCm39) T12M probably damaging Het
Alms1 T A 6: 85,606,034 (GRCm39) Y2561* probably null Het
Atp10a G A 7: 58,436,253 (GRCm39) V348I probably damaging Het
Best2 T C 8: 85,737,852 (GRCm39) Y181C probably benign Het
Btaf1 T A 19: 36,946,521 (GRCm39) D442E probably damaging Het
Carmil3 T G 14: 55,741,989 (GRCm39) V1153G probably benign Het
Cc2d2a A G 5: 43,876,003 (GRCm39) I993M probably damaging Het
Ccng1 G A 11: 40,642,941 (GRCm39) P169S probably benign Het
Cip2a C T 16: 48,826,082 (GRCm39) T383I probably benign Het
Cmtr2 T C 8: 110,949,430 (GRCm39) L580P probably damaging Het
Col22a1 T C 15: 71,878,830 (GRCm39) E109G possibly damaging Het
Cplane1 T A 15: 8,256,384 (GRCm39) probably null Het
Crispld2 G T 8: 120,750,388 (GRCm39) W264L possibly damaging Het
Cyp2c38 T C 19: 39,393,239 (GRCm39) H276R probably benign Het
Dag1 A T 9: 108,085,914 (GRCm39) V409E possibly damaging Het
Efcab15 T C 11: 103,090,650 (GRCm39) probably null Het
Emc8 T C 8: 121,385,294 (GRCm39) N146S probably benign Het
Glt8d1 T C 14: 30,733,478 (GRCm39) V321A possibly damaging Het
Gm5174 C T 10: 86,492,776 (GRCm39) noncoding transcript Het
Hdac10 G T 15: 89,010,912 (GRCm39) probably null Het
Hectd4 A G 5: 121,482,881 (GRCm39) D3144G possibly damaging Het
Ifna11 C T 4: 88,738,473 (GRCm39) S93L probably damaging Het
Il16 T C 7: 83,297,936 (GRCm39) N431S probably benign Het
Irf8 A T 8: 121,481,127 (GRCm39) E237V probably damaging Het
Lrp1b A G 2: 41,075,993 (GRCm39) Y1769H probably damaging Het
Lrrc9 A G 12: 72,524,073 (GRCm39) N761D probably damaging Het
Mbtps1 T C 8: 120,269,469 (GRCm39) Y207C probably benign Het
Myo9a A G 9: 59,739,583 (GRCm39) E765G probably damaging Het
Nlrp3 A G 11: 59,434,177 (GRCm39) D80G probably damaging Het
Or12k8 G A 2: 36,975,188 (GRCm39) P191S probably damaging Het
Or2ag15 G C 7: 106,340,755 (GRCm39) P129A probably damaging Het
Or7g18 A T 9: 18,787,090 (GRCm39) I156F probably benign Het
Pcyt2 T A 11: 120,506,677 (GRCm39) probably null Het
Plxnd1 T C 6: 115,945,642 (GRCm39) T944A probably benign Het
Prss3b A G 6: 41,009,870 (GRCm39) probably null Het
Psd4 A T 2: 24,295,344 (GRCm39) I833F probably damaging Het
Psmd7 A G 8: 108,307,817 (GRCm39) I222T probably benign Het
Rbm22 T C 18: 60,693,916 (GRCm39) S7P possibly damaging Het
Rbpms2 ACTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 9: 65,558,948 (GRCm39) probably benign Het
Rfx4 A G 10: 84,680,144 (GRCm39) N107S probably damaging Het
Ripk2 T A 4: 16,155,192 (GRCm39) probably null Het
Rpgrip1 T A 14: 52,378,148 (GRCm39) C499S possibly damaging Het
Scarf1 T C 11: 75,414,870 (GRCm39) S515P probably damaging Het
Sgip1 T C 4: 102,772,256 (GRCm39) V215A probably benign Het
Sis T C 3: 72,796,343 (GRCm39) I1813V possibly damaging Het
Slc17a3 A T 13: 24,040,724 (GRCm39) T317S probably benign Het
Slc35e1 T C 8: 73,237,821 (GRCm39) N340S probably benign Het
Smg6 A G 11: 74,820,256 (GRCm39) I176V probably benign Het
Smim17 T C 7: 6,432,325 (GRCm39) L89S probably damaging Het
Synm T C 7: 67,386,051 (GRCm39) N95S probably damaging Het
Tdrd9 A G 12: 112,002,873 (GRCm39) K841E possibly damaging Het
Tep1 G T 14: 51,092,024 (GRCm39) F570L possibly damaging Het
Tgm3 G A 2: 129,868,734 (GRCm39) probably null Het
Tra2b T C 16: 22,071,496 (GRCm39) Y128C possibly damaging Het
Vmn2r17 T C 5: 109,576,110 (GRCm39) V327A probably benign Het
Wdr20rt A T 12: 65,274,088 (GRCm39) D344V probably damaging Het
Zfp940 A G 7: 29,544,363 (GRCm39) C515R probably damaging Het
Other mutations in Rap2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02544:Rap2b APN 3 61,272,560 (GRCm39) missense probably damaging 1.00
R2117:Rap2b UTSW 3 61,272,512 (GRCm39) missense probably damaging 1.00
R8217:Rap2b UTSW 3 61,272,551 (GRCm39) missense possibly damaging 0.87
R8420:Rap2b UTSW 3 61,271,805 (GRCm39) utr 5 prime probably benign
Predicted Primers PCR Primer
(F):5'- AATTAGCAGCCGCCTCTGCAAC -3'
(R):5'- TTGCCTACCAGGATCATGGGTACG -3'

Sequencing Primer
(F):5'- TTCCTGCGAAGTTGAGGAAG -3'
(R):5'- ATCATGGGTACGCGCTC -3'
Posted On 2014-05-14