Incidental Mutation 'R4427:Rap1gap2'
ID 328242
Institutional Source Beutler Lab
Gene Symbol Rap1gap2
Ensembl Gene ENSMUSG00000038807
Gene Name RAP1 GTPase activating protein 2
Synonyms Garnl4, LOC380710
MMRRC Submission 041145-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4427 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 74274182-74501741 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 74298148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 491 (A491S)
Ref Sequence ENSEMBL: ENSMUSP00000040180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047488] [ENSMUST00000102521]
AlphaFold Q5SVL6
Predicted Effect possibly damaging
Transcript: ENSMUST00000047488
AA Change: A491S

PolyPhen 2 Score 0.709 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000040180
Gene: ENSMUSG00000038807
AA Change: A491S

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: A431S

PolyPhen 2 Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099580
Gene: ENSMUSG00000038807
AA Change: A431S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123440
Meta Mutation Damage Score 0.2916 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 96% (48/50)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A T 7: 29,278,678 (GRCm39) noncoding transcript Het
A2ml1 T C 6: 128,522,009 (GRCm39) E1271G probably benign Het
Ccdc88b C T 19: 6,827,940 (GRCm39) E878K probably damaging Het
Cfap119 A G 7: 127,187,288 (GRCm39) probably benign Het
Crybg3 T C 16: 59,363,562 (GRCm39) K2441E probably damaging Het
Cryga A T 1: 65,139,775 (GRCm39) I121N probably damaging Het
Dst A T 1: 34,220,541 (GRCm39) Q2115L probably benign Het
Evi2 T A 11: 79,407,182 (GRCm39) Q131L possibly damaging Het
Exoc1 A G 5: 76,711,110 (GRCm39) I61V probably benign Het
Firrm A G 1: 163,781,853 (GRCm39) V858A probably benign Het
Frem2 A G 3: 53,446,583 (GRCm39) probably null Het
Gas2l1 A G 11: 5,013,908 (GRCm39) V184A probably benign Het
Gsto2 T C 19: 47,860,212 (GRCm39) S2P possibly damaging Het
Herc1 T C 9: 66,403,287 (GRCm39) L4402P probably damaging Het
Kcnd2 T A 6: 21,216,896 (GRCm39) I200N probably damaging Het
Klhl30 A G 1: 91,281,426 (GRCm39) D9G probably damaging Het
Ltf C A 9: 110,852,672 (GRCm39) T178K probably damaging Het
Memo1 T A 17: 74,509,302 (GRCm39) Y239F probably benign Het
Ogdh C T 11: 6,305,421 (GRCm39) T972I probably benign Het
Phactr4 T C 4: 132,114,352 (GRCm39) D24G possibly damaging Het
Pi4ka C T 16: 17,098,908 (GRCm39) R1992H probably damaging Het
Poc1b T C 10: 98,991,001 (GRCm39) probably null Het
Ppp1r9b A T 11: 94,892,150 (GRCm39) R188S possibly damaging Het
Pwwp2a T C 11: 43,573,344 (GRCm39) V142A possibly damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rcsd1 C A 1: 165,483,464 (GRCm39) V206L probably damaging Het
Rps6ka2 T A 17: 7,566,804 (GRCm39) D687E possibly damaging Het
Sgce G A 6: 4,691,459 (GRCm39) A295V probably damaging Het
Siglec15 T G 18: 78,086,836 (GRCm39) E341A possibly damaging Het
Tcaim T C 9: 122,643,561 (GRCm39) F87S probably benign Het
Thbs2 C A 17: 14,900,597 (GRCm39) V537L probably benign Het
Timd6 T A 11: 46,475,247 (GRCm39) F147L probably benign Het
Tmx3 T A 18: 90,541,725 (GRCm39) V158D probably damaging Het
Tpm1 A G 9: 66,939,847 (GRCm39) probably benign Het
Trmt2a A G 16: 18,067,093 (GRCm39) probably benign Het
Ugcg T A 4: 59,219,555 (GRCm39) F297L probably benign Het
Utp18 T C 11: 93,757,264 (GRCm39) N467D probably damaging Het
Vmn2r73 A G 7: 85,506,981 (GRCm39) F777S probably damaging Het
Vwc2 A G 11: 11,104,235 (GRCm39) T256A probably damaging Het
Zfp300 C T X: 20,949,405 (GRCm39) V120I possibly damaging Het
Zfp982 A T 4: 147,597,080 (GRCm39) R146* probably null 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
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
R9600:Rap1gap2 UTSW 11 74,283,954 (GRCm39) missense probably benign 0.01
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'- GTAACAGAGCAAGACCTGGACATAC -3'
(R):5'- TGGCCTTGGCTGGAAATGAC -3'

Sequencing Primer
(F):5'- GAGCAAGACCTGGACATACTACATG -3'
(R):5'- CTTGGCTGGAAATGACCGGATATG -3'
Posted On 2015-07-07