Incidental Mutation 'R6186:Rap1b'
ID 502186
Institutional Source Beutler Lab
Gene Symbol Rap1b
Ensembl Gene ENSMUSG00000052681
Gene Name RAS related protein 1b
Synonyms 2810443E11Rik
MMRRC Submission 044326-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.713) question?
Stock # R6186 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 117650502-117681879 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 117656457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 78 (F78L)
Ref Sequence ENSEMBL: ENSMUSP00000066238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064667] [ENSMUST00000220214]
AlphaFold Q99JI6
Predicted Effect probably damaging
Transcript: ENSMUST00000064667
AA Change: F78L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066238
Gene: ENSMUSG00000052681
AA Change: F78L

DomainStartEndE-ValueType
RAS 1 168 2.4e-122 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000220214
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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-like small GTP-binding protein superfamily. Members of this family regulate multiple cellular processes including cell adhesion and growth and differentiation. This protein localizes to cellular membranes and has been shown to regulate integrin-mediated cell signaling. This protein also plays a role in regulating outside-in signaling in platelets. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 5, 6 and 9. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mice display partial embryonic and perinatal lethality, abdominal, cranial, and hepatic bleeding in mice that die in utero, reduced platelet aggregation, and decreased thrombus formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb A G 10: 10,298,502 (GRCm39) S409P probably damaging Het
Adgrg5 T C 8: 95,660,652 (GRCm39) V93A possibly damaging Het
Akap8l C T 17: 32,552,018 (GRCm39) V420I probably benign Het
Ankrd36 T G 11: 5,593,812 (GRCm39) D472E possibly damaging Het
Apbb1 T C 7: 105,216,933 (GRCm39) E250G probably damaging Het
Cacna2d4 G A 6: 119,258,650 (GRCm39) E579K possibly damaging Het
Capn7 G T 14: 31,092,875 (GRCm39) G780W probably damaging Het
Celsr1 T C 15: 85,805,394 (GRCm39) E2419G possibly damaging Het
Cep164 A T 9: 45,705,407 (GRCm39) S363R probably damaging Het
Cfap221 T A 1: 119,862,340 (GRCm39) I581F probably damaging Het
Cog2 C A 8: 125,273,425 (GRCm39) T588N probably damaging Het
Cyp2a5 T C 7: 26,542,813 (GRCm39) probably benign Het
Cyp2j6 G C 4: 96,424,323 (GRCm39) L145V probably damaging Het
Evx1 T C 6: 52,291,203 (GRCm39) probably null Het
Fam186a T C 15: 99,845,206 (GRCm39) H346R unknown Het
Fam53b T A 7: 132,317,445 (GRCm39) D399V possibly damaging Het
Fcho2 T A 13: 98,951,591 (GRCm39) N9I probably benign Het
Fjx1 T C 2: 102,281,152 (GRCm39) E261G probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Fkbpl T C 17: 34,865,153 (GRCm39) F307S probably benign Het
Fn1 A G 1: 71,676,449 (GRCm39) I594T probably damaging Het
Inpp4b T A 8: 82,772,863 (GRCm39) V719E probably damaging Het
Ldlr C T 9: 21,635,055 (GRCm39) probably benign Het
Macf1 A G 4: 123,377,968 (GRCm39) V1419A probably damaging Het
Mapkap1 A G 2: 34,453,126 (GRCm39) T340A possibly damaging Het
Mark2 A G 19: 7,260,567 (GRCm39) V403A probably benign Het
Mast3 T C 8: 71,238,127 (GRCm39) T521A probably damaging Het
Mrtfa T C 15: 80,900,853 (GRCm39) K546R probably damaging Het
Myo1h C T 5: 114,457,864 (GRCm39) T125I possibly damaging Het
Ndufa8 A G 2: 35,929,752 (GRCm39) V118A probably benign Het
Nphs1 A G 7: 30,165,059 (GRCm39) T551A probably damaging Het
Or2k2 T C 4: 58,784,948 (GRCm39) Y258C probably damaging Het
Or4k15c T A 14: 50,321,982 (GRCm39) D52V probably damaging Het
Pcm1 T C 8: 41,746,830 (GRCm39) L1343P probably benign Het
Pdcd1 T A 1: 93,967,846 (GRCm39) R202* probably null Het
Pramel52-ps T A 5: 94,531,835 (GRCm39) Y240N probably benign Het
Prkab2 A G 3: 97,571,307 (GRCm39) probably null Het
Ptdss2 T C 7: 140,734,862 (GRCm39) probably benign Het
Rbl2 C T 8: 91,833,358 (GRCm39) T711I probably damaging Het
Rhobtb2 A G 14: 70,035,693 (GRCm39) I126T probably damaging Het
Rimoc1 C A 15: 4,015,851 (GRCm39) D238Y possibly damaging Het
Rnf123 A C 9: 107,947,157 (GRCm39) S210A possibly damaging Het
Shank1 T A 7: 44,001,990 (GRCm39) F1228L probably benign Het
Spata31f3 T C 4: 42,872,000 (GRCm39) K125R possibly damaging Het
Sumo1 C A 1: 59,683,729 (GRCm39) V38L probably benign Het
Sycp2 C T 2: 178,025,353 (GRCm39) S363N probably damaging Het
Tbx2 G T 11: 85,728,672 (GRCm39) E352* probably null Het
Timm44 T C 8: 4,316,824 (GRCm39) N270D probably damaging Het
Topaz1 A T 9: 122,577,891 (GRCm39) Q267L probably benign Het
Trp63 T C 16: 25,695,483 (GRCm39) probably benign Het
Ushbp1 T A 8: 71,843,647 (GRCm39) T264S possibly damaging Het
Vav3 A G 3: 109,423,383 (GRCm39) Y334C probably damaging Het
Wdr36 G C 18: 32,985,954 (GRCm39) A553P probably benign Het
Zfhx2 A T 14: 55,300,617 (GRCm39) I2378K probably damaging Het
Zfp276 T A 8: 123,982,672 (GRCm39) Y145* probably null Het
Zfp458 T C 13: 67,405,701 (GRCm39) E246G probably damaging Het
Zfp526 A G 7: 24,925,561 (GRCm39) T607A probably benign Het
Other mutations in Rap1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01932:Rap1b APN 10 117,658,765 (GRCm39) missense probably damaging 1.00
IGL02539:Rap1b APN 10 117,658,709 (GRCm39) missense possibly damaging 0.82
IGL03286:Rap1b APN 10 117,654,480 (GRCm39) nonsense probably null
R0591:Rap1b UTSW 10 117,654,522 (GRCm39) unclassified probably benign
R1939:Rap1b UTSW 10 117,654,491 (GRCm39) missense probably damaging 1.00
R2509:Rap1b UTSW 10 117,654,444 (GRCm39) missense probably damaging 0.98
R2902:Rap1b UTSW 10 117,660,507 (GRCm39) missense probably damaging 1.00
R4825:Rap1b UTSW 10 117,654,487 (GRCm39) missense probably benign 0.04
R5131:Rap1b UTSW 10 117,660,516 (GRCm39) missense probably damaging 0.96
R6084:Rap1b UTSW 10 117,660,516 (GRCm39) missense probably damaging 0.96
R6737:Rap1b UTSW 10 117,658,713 (GRCm39) missense probably damaging 0.97
R7026:Rap1b UTSW 10 117,654,384 (GRCm39) missense probably benign 0.01
R7530:Rap1b UTSW 10 117,653,357 (GRCm39) nonsense probably null
R8069:Rap1b UTSW 10 117,657,514 (GRCm39) missense probably damaging 1.00
R8686:Rap1b UTSW 10 117,658,746 (GRCm39) missense probably damaging 1.00
R9163:Rap1b UTSW 10 117,654,391 (GRCm39) missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- AAAGGAGATCATGCCTGAGC -3'
(R):5'- AGGCTGCTCTTAGAGACACTG -3'

Sequencing Primer
(F):5'- CTGAGGCAGACAAATCTCTGAGTTC -3'
(R):5'- CCAGTTGAACATCTGTTGTATGTACG -3'
Posted On 2018-02-27