Incidental Mutation 'R9600:Rap1gap2'
ID 723687
Institutional Source Beutler Lab
Gene Symbol Rap1gap2
Ensembl Gene ENSMUSG00000038807
Gene Name RAP1 GTPase activating protein 2
Synonyms Garnl4, LOC380710
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9600 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 74274182-74501741 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74283954 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 615 (N615D)
Ref Sequence ENSEMBL: ENSMUSP00000099580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047488] [ENSMUST00000102521]
AlphaFold Q5SVL6
Predicted Effect probably benign
Transcript: ENSMUST00000047488
AA Change: N675D

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000040180
Gene: ENSMUSG00000038807
AA Change: N675D

DomainStartEndE-ValueType
Pfam:Rap_GAP 258 445 1.2e-64 PFAM
low complexity region 617 629 N/A INTRINSIC
low complexity region 660 669 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102521
AA Change: N615D

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000099580
Gene: ENSMUSG00000038807
AA Change: N615D

DomainStartEndE-ValueType
Pfam:Rap_GAP 258 439 4.9e-67 PFAM
low complexity region 617 629 N/A INTRINSIC
low complexity region 660 669 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTPase-activating protein that activates the small guanine-nucleotide-binding protein Rap1 in platelets. The protein interacts with synaptotagmin-like protein 1 and Rab27 and regulates secretion of dense granules from platelets at sites of endothelial damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit normal blood lymphocyte populations. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik A G 11: 80,261,197 (GRCm39) V210A probably damaging Het
Abcc9 G A 6: 142,536,102 (GRCm39) A1544V possibly damaging Het
Akap6 A G 12: 52,933,341 (GRCm39) T278A probably benign Het
Arfgef1 T A 1: 10,233,977 (GRCm39) I1106F probably benign Het
Armc7 T C 11: 115,367,038 (GRCm39) L61S probably damaging Het
Atp1a3 G A 7: 24,700,027 (GRCm39) T111M probably benign Het
Bltp1 A T 3: 37,095,565 (GRCm39) K1103* probably null Het
Cacna2d4 T A 6: 119,322,023 (GRCm39) S962R probably benign Het
Camsap2 T C 1: 136,204,936 (GRCm39) T526A Het
Casq2 A T 3: 102,052,622 (GRCm39) D378V unknown Het
Chst8 C T 7: 34,374,646 (GRCm39) D398N possibly damaging Het
Cmya5 C T 13: 93,226,604 (GRCm39) G2828D probably damaging Het
Cntnap2 T A 6: 45,969,009 (GRCm39) N250K probably damaging Het
Cpne5 T C 17: 29,380,520 (GRCm39) N401D probably damaging Het
Cse1l A G 2: 166,757,119 (GRCm39) N7S probably damaging Het
Cyp4f39 G A 17: 32,705,920 (GRCm39) G337D probably damaging Het
Dera C T 6: 137,814,135 (GRCm39) R308C probably benign Het
Drd5 T A 5: 38,478,174 (GRCm39) I389N possibly damaging Het
F830016B08Rik A G 18: 60,433,237 (GRCm39) T107A probably damaging Het
Fbxw22 C A 9: 109,212,986 (GRCm39) L320F probably damaging Het
Fndc3b G T 3: 27,552,941 (GRCm39) T352K probably damaging Het
Gm36864 T A 7: 43,886,275 (GRCm39) I169K unknown Het
Hdac4 A T 1: 91,889,277 (GRCm39) D749E probably damaging Het
Herc1 C T 9: 66,304,594 (GRCm39) A805V possibly damaging Het
Hrh1 A G 6: 114,457,453 (GRCm39) K245E probably benign Het
Khdc1a A G 1: 21,421,204 (GRCm39) T130A probably benign Het
Lrp5 C G 19: 3,641,712 (GRCm39) A1417P probably benign Het
Macf1 T C 4: 123,365,002 (GRCm39) Q3253R possibly damaging Het
Mdn1 T A 4: 32,684,723 (GRCm39) L811* probably null Het
Mettl8 T C 2: 70,812,383 (GRCm39) D84G possibly damaging Het
Miga1 T G 3: 151,993,186 (GRCm39) T412P probably benign Het
Mtor G T 4: 148,632,092 (GRCm39) R2322L possibly damaging Het
Muc16 T C 9: 18,567,147 (GRCm39) N1791D unknown Het
Myo9b C G 8: 71,743,075 (GRCm39) S45R possibly damaging Het
Nup50l A T 6: 96,142,156 (GRCm39) L296Q possibly damaging Het
Olfm4 T C 14: 80,243,747 (GRCm39) F105S probably damaging Het
Or5af2 A T 11: 58,708,370 (GRCm39) I179F possibly damaging Het
Osbpl1a T C 18: 13,015,277 (GRCm39) I384V probably benign Het
Pcnx1 T C 12: 82,030,435 (GRCm39) L1131P Het
Pex6 T A 17: 47,035,322 (GRCm39) V827E probably damaging Het
Plek A C 11: 16,940,119 (GRCm39) S197A probably benign Het
Pmpca T C 2: 26,282,598 (GRCm39) Y269H probably benign Het
Pop1 T C 15: 34,512,881 (GRCm39) I493T probably benign Het
Rtp3 T C 9: 110,815,198 (GRCm39) Y389C unknown Het
Rusf1 T A 7: 127,875,676 (GRCm39) D253V possibly damaging Het
Sardh T C 2: 27,120,513 (GRCm39) Q423R probably benign Het
Slc11a1 T C 1: 74,422,688 (GRCm39) probably null Het
Slc5a4b T C 10: 75,896,239 (GRCm39) D572G probably damaging Het
Slco1a8 T G 6: 141,949,234 (GRCm39) probably null Het
Slfn14 A G 11: 83,170,048 (GRCm39) V532A probably benign Het
Spmip10 T C 18: 56,725,450 (GRCm39) W37R probably benign Het
Stxbp1 T C 2: 32,701,120 (GRCm39) Y264C possibly damaging Het
Syce1l T C 8: 114,381,750 (GRCm39) I230T unknown Het
Taf5l T C 8: 124,730,173 (GRCm39) Y172C Het
Trpc4 A T 3: 54,102,248 (GRCm39) K49* probably null Het
Ttc13 A G 8: 125,415,284 (GRCm39) V285A probably benign Het
Ttc17 A T 2: 94,204,890 (GRCm39) L344Q probably damaging Het
Unc79 A G 12: 103,135,972 (GRCm39) H2469R probably benign Het
Xkr7 A G 2: 152,896,393 (GRCm39) I416V probably benign Het
Zeb2 C A 2: 44,987,180 (GRCm39) D35Y unknown Het
Zfp28 A G 7: 6,397,917 (GRCm39) H784R probably benign Het
Zfp644 A C 5: 106,783,909 (GRCm39) S848R probably benign Het
Zfp809 G A 9: 22,150,384 (GRCm39) E294K possibly damaging Het
Zfp820 A G 17: 22,038,861 (GRCm39) Y156H probably benign Het
Other mutations in Rap1gap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00687:Rap1gap2 APN 11 74,307,085 (GRCm39) missense probably benign 0.25
IGL00839:Rap1gap2 APN 11 74,328,274 (GRCm39) missense probably damaging 1.00
IGL02301:Rap1gap2 APN 11 74,298,195 (GRCm39) missense probably damaging 1.00
IGL02367:Rap1gap2 APN 11 74,288,181 (GRCm39) critical splice donor site probably null
IGL02832:Rap1gap2 APN 11 74,303,281 (GRCm39) splice site probably benign
IGL03067:Rap1gap2 APN 11 74,284,238 (GRCm39) missense possibly damaging 0.63
IGL03341:Rap1gap2 APN 11 74,326,540 (GRCm39) missense probably damaging 1.00
IGL03355:Rap1gap2 APN 11 74,303,170 (GRCm39) missense probably damaging 1.00
drummerboy UTSW 11 74,298,198 (GRCm39) missense probably damaging 1.00
magister UTSW 11 74,326,587 (GRCm39) nonsense probably null
P0026:Rap1gap2 UTSW 11 74,458,036 (GRCm39) splice site probably benign
R0106:Rap1gap2 UTSW 11 74,326,570 (GRCm39) missense probably benign 0.10
R0106:Rap1gap2 UTSW 11 74,326,570 (GRCm39) missense probably benign 0.10
R0514:Rap1gap2 UTSW 11 74,279,680 (GRCm39) missense possibly damaging 0.74
R0518:Rap1gap2 UTSW 11 74,332,592 (GRCm39) missense probably damaging 1.00
R0521:Rap1gap2 UTSW 11 74,332,592 (GRCm39) missense probably damaging 1.00
R1070:Rap1gap2 UTSW 11 74,327,853 (GRCm39) missense possibly damaging 0.71
R1467:Rap1gap2 UTSW 11 74,327,853 (GRCm39) missense possibly damaging 0.71
R1467:Rap1gap2 UTSW 11 74,327,853 (GRCm39) missense possibly damaging 0.71
R1998:Rap1gap2 UTSW 11 74,286,659 (GRCm39) missense probably benign 0.04
R2144:Rap1gap2 UTSW 11 74,316,802 (GRCm39) missense probably damaging 1.00
R2145:Rap1gap2 UTSW 11 74,316,802 (GRCm39) missense probably damaging 1.00
R2180:Rap1gap2 UTSW 11 74,283,972 (GRCm39) missense probably benign 0.24
R2938:Rap1gap2 UTSW 11 74,298,148 (GRCm39) missense possibly damaging 0.71
R2991:Rap1gap2 UTSW 11 74,298,148 (GRCm39) missense possibly damaging 0.71
R2992:Rap1gap2 UTSW 11 74,298,148 (GRCm39) missense possibly damaging 0.71
R2993:Rap1gap2 UTSW 11 74,298,148 (GRCm39) missense possibly damaging 0.71
R3033:Rap1gap2 UTSW 11 74,298,148 (GRCm39) missense possibly damaging 0.71
R3035:Rap1gap2 UTSW 11 74,298,148 (GRCm39) missense possibly damaging 0.71
R3686:Rap1gap2 UTSW 11 74,298,148 (GRCm39) missense possibly damaging 0.71
R4426:Rap1gap2 UTSW 11 74,298,148 (GRCm39) missense possibly damaging 0.71
R4427:Rap1gap2 UTSW 11 74,298,148 (GRCm39) missense possibly damaging 0.71
R4621:Rap1gap2 UTSW 11 74,326,525 (GRCm39) critical splice donor site probably null
R4705:Rap1gap2 UTSW 11 74,328,265 (GRCm39) missense probably damaging 1.00
R4809:Rap1gap2 UTSW 11 74,298,800 (GRCm39) splice site probably benign
R5092:Rap1gap2 UTSW 11 74,329,121 (GRCm39) missense probably damaging 1.00
R5283:Rap1gap2 UTSW 11 74,286,651 (GRCm39) missense probably damaging 1.00
R5343:Rap1gap2 UTSW 11 74,332,611 (GRCm39) missense probably damaging 0.99
R5941:Rap1gap2 UTSW 11 74,283,063 (GRCm39) missense probably damaging 1.00
R6414:Rap1gap2 UTSW 11 74,296,616 (GRCm39) missense probably damaging 1.00
R6647:Rap1gap2 UTSW 11 74,298,754 (GRCm39) missense probably benign 0.04
R6951:Rap1gap2 UTSW 11 74,375,774 (GRCm39) missense possibly damaging 0.81
R7096:Rap1gap2 UTSW 11 74,283,057 (GRCm39) missense probably damaging 0.99
R7107:Rap1gap2 UTSW 11 74,283,945 (GRCm39) missense probably damaging 1.00
R7397:Rap1gap2 UTSW 11 74,305,237 (GRCm39) missense probably benign 0.28
R7553:Rap1gap2 UTSW 11 74,326,548 (GRCm39) missense probably damaging 0.97
R8038:Rap1gap2 UTSW 11 74,283,109 (GRCm39) missense probably benign 0.00
R8051:Rap1gap2 UTSW 11 74,286,651 (GRCm39) missense probably damaging 0.97
R8466:Rap1gap2 UTSW 11 74,316,057 (GRCm39) missense probably benign 0.33
R8772:Rap1gap2 UTSW 11 74,296,551 (GRCm39) missense probably damaging 1.00
R8853:Rap1gap2 UTSW 11 74,298,198 (GRCm39) missense probably damaging 1.00
R8914:Rap1gap2 UTSW 11 74,326,587 (GRCm39) nonsense probably null
R9506:Rap1gap2 UTSW 11 74,305,266 (GRCm39) missense probably damaging 0.98
Z1176:Rap1gap2 UTSW 11 74,501,703 (GRCm39) frame shift probably null
Z1186:Rap1gap2 UTSW 11 74,487,721 (GRCm39) missense probably benign 0.41
Z1187:Rap1gap2 UTSW 11 74,487,721 (GRCm39) missense probably benign 0.41
Z1188:Rap1gap2 UTSW 11 74,487,721 (GRCm39) missense probably benign 0.41
Z1189:Rap1gap2 UTSW 11 74,487,721 (GRCm39) missense probably benign 0.41
Z1190:Rap1gap2 UTSW 11 74,487,721 (GRCm39) missense probably benign 0.41
Z1191:Rap1gap2 UTSW 11 74,487,721 (GRCm39) missense probably benign 0.41
Z1192:Rap1gap2 UTSW 11 74,487,721 (GRCm39) missense probably benign 0.41
Predicted Primers PCR Primer
(F):5'- CAGAGTATGACCAGCTAGGC -3'
(R):5'- AGCTCTCCAGAAATTTGTCCC -3'

Sequencing Primer
(F):5'- CAGGTAAGTAAAATCCTTCTGTGGCC -3'
(R):5'- GCAAGCGCAGTTTTCTG -3'
Posted On 2022-09-12