Incidental Mutation 'R2902:Rap1b'
ID 261514
Institutional Source Beutler Lab
Gene Symbol Rap1b
Ensembl Gene ENSMUSG00000052681
Gene Name RAS related protein 1b
Synonyms 2810443E11Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.713) question?
Stock # R2902 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 117650502-117681879 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 117660507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 17 (S17P)
Ref Sequence ENSEMBL: ENSMUSP00000066238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064667]
AlphaFold Q99JI6
Predicted Effect probably damaging
Transcript: ENSMUST00000064667
AA Change: S17P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066238
Gene: ENSMUSG00000052681
AA Change: S17P

DomainStartEndE-ValueType
RAS 1 168 2.4e-122 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apobec2 T C 17: 48,730,409 (GRCm39) T86A probably benign Het
C1qtnf1 A G 11: 118,338,930 (GRCm39) probably null Het
Cacng3 A G 7: 122,353,750 (GRCm39) K78R possibly damaging Het
Cep68 A G 11: 20,190,187 (GRCm39) L275P probably damaging Het
Chrm4 A G 2: 91,758,302 (GRCm39) K237E probably benign Het
Clvs1 A G 4: 9,281,972 (GRCm39) K139E probably damaging Het
Col25a1 A T 3: 130,340,040 (GRCm39) E351V probably damaging Het
Cyp4f18 A T 8: 72,756,255 (GRCm39) I107N probably damaging Het
Dagla A G 19: 10,225,467 (GRCm39) L899P probably damaging Het
Dnah3 T C 7: 119,550,722 (GRCm39) K3199R possibly damaging Het
Ecpas G A 4: 58,809,691 (GRCm39) T1592M probably benign Het
Emc10 G A 7: 44,142,616 (GRCm39) R109W probably damaging Het
Fam186a G T 15: 99,843,049 (GRCm39) T1065K possibly damaging Het
Ferd3l T G 12: 33,978,952 (GRCm39) M155R probably damaging Het
Fgd4 A G 16: 16,243,729 (GRCm39) Y602H probably damaging Het
Gldn T C 9: 54,243,098 (GRCm39) L360P possibly damaging Het
Gm9920 C A 15: 54,975,867 (GRCm39) probably benign Het
Inhbc T C 10: 127,193,621 (GRCm39) T132A probably benign Het
Krt23 T C 11: 99,374,797 (GRCm39) D260G probably damaging Het
Lrch3 G A 16: 32,770,766 (GRCm39) A123T probably damaging Het
Mark2 A T 19: 7,260,813 (GRCm39) S408T probably benign Het
Nme8 A T 13: 19,859,834 (GRCm39) V23E probably benign Het
Nod2 A T 8: 89,402,091 (GRCm39) I912F probably damaging Het
Nxpe4 A G 9: 48,305,446 (GRCm39) I279V probably benign Het
Oas3 A G 5: 120,896,982 (GRCm39) F880L probably damaging Het
Or5ak23 C T 2: 85,244,396 (GRCm39) V276M possibly damaging Het
Or6c6c A G 10: 129,541,320 (GRCm39) H191R probably benign Het
Or8c11 T A 9: 38,289,337 (GRCm39) N53K possibly damaging Het
Pcnt C T 10: 76,211,064 (GRCm39) R2371H probably damaging Het
Prex2 A T 1: 11,278,838 (GRCm39) N1389I possibly damaging Het
Prf1 A T 10: 61,136,098 (GRCm39) N125Y probably damaging Het
Prr12 C T 7: 44,697,036 (GRCm39) G960R unknown Het
Rhot2 G T 17: 26,062,950 (GRCm39) Q63K probably damaging Het
Rnpepl1 C T 1: 92,844,102 (GRCm39) L278F probably damaging Het
Slco1a6 A G 6: 142,042,046 (GRCm39) L510P probably damaging Het
Ssc4d G A 5: 135,993,517 (GRCm39) P113L possibly damaging Het
Sv2a A T 3: 96,101,072 (GRCm39) N690I possibly damaging Het
Tbc1d24 T C 17: 24,426,220 (GRCm39) Y452C probably benign Het
Tmem132d G T 5: 127,860,832 (GRCm39) H1096Q probably benign Het
Tmem82 C A 4: 141,343,775 (GRCm39) G165V probably benign Het
Tpo T A 12: 30,169,448 (GRCm39) T96S possibly damaging Het
Triobp A G 15: 78,857,618 (GRCm39) E1073G possibly damaging Het
Tspoap1 C T 11: 87,668,801 (GRCm39) P1358L probably benign Het
Usp47 A G 7: 111,692,658 (GRCm39) Y1020C probably damaging Het
Washc4 C A 10: 83,390,627 (GRCm39) Y153* probably null 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
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
R6186:Rap1b UTSW 10 117,656,457 (GRCm39) missense probably damaging 1.00
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'- GGATCTTACCTTAATCAGACCAAGAC -3'
(R):5'- TGCTCCCATGGGAATCTAGTC -3'

Sequencing Primer
(F):5'- GTGGCCTTTAAAGCTGCAAC -3'
(R):5'- CCCATGGGAATCTAGTCTAGTAATC -3'
Posted On 2015-01-23