Incidental Mutation 'IGL03067:Rap1gap2'
ID 409734
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rap1gap2
Ensembl Gene ENSMUSG00000038807
Gene Name RAP1 GTPase activating protein 2
Synonyms Garnl4, LOC380710
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03067
Quality Score
Status
Chromosome 11
Chromosomal Location 74274182-74501741 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74284238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 649 (S649P)
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: S649P

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000040180
Gene: ENSMUSG00000038807
AA Change: S649P

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: S589P

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000099580
Gene: ENSMUSG00000038807
AA Change: S589P

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
Coding Region Coverage
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A T 11: 119,900,909 (GRCm39) D1162E probably benign Het
Abhd2 T C 7: 79,009,782 (GRCm39) F386L probably benign Het
Adamts6 C T 13: 104,433,783 (GRCm39) R71W probably damaging Het
Adgrv1 T C 13: 81,590,599 (GRCm39) Y4403C probably damaging Het
Aldoart1 A T 4: 72,770,194 (GRCm39) C205S possibly damaging Het
Ap2a1 C A 7: 44,552,935 (GRCm39) A711S probably benign Het
Arhgef28 A G 13: 98,124,794 (GRCm39) I496T probably benign Het
Cyp27a1 A G 1: 74,771,068 (GRCm39) probably null Het
Cyp2c69 C T 19: 39,869,537 (GRCm39) G161S probably benign Het
Dpy19l1 A G 9: 24,349,956 (GRCm39) V428A probably benign Het
Foxk2 C T 11: 121,176,394 (GRCm39) T180M possibly damaging Het
Gm3402 C A 5: 146,451,399 (GRCm39) H86N possibly damaging Het
Gm3543 A G 14: 41,802,830 (GRCm39) probably benign Het
Gnai3 T C 3: 108,025,609 (GRCm39) probably benign Het
Hmcn2 C T 2: 31,236,642 (GRCm39) P395L probably damaging Het
Igsf10 T C 3: 59,226,339 (GRCm39) I2445V probably benign Het
Il10ra T C 9: 45,167,157 (GRCm39) T465A probably benign Het
Itpr2 G A 6: 146,226,680 (GRCm39) L1322F probably damaging Het
Man1b1 T C 2: 25,239,344 (GRCm39) Y536H probably benign Het
P3h1 A G 4: 119,092,477 (GRCm39) H170R probably damaging Het
Pakap A T 4: 57,648,038 (GRCm39) T59S probably benign Het
Parp14 A G 16: 35,676,878 (GRCm39) V1030A probably benign Het
Pdzd2 A G 15: 12,388,628 (GRCm39) probably null Het
Pilra T C 5: 137,821,843 (GRCm39) Y264C probably damaging Het
Ptprf A G 4: 118,067,910 (GRCm39) V1799A possibly damaging Het
Rasgrf2 T C 13: 92,159,413 (GRCm39) M426V probably damaging Het
Rpl9 A G 5: 65,548,191 (GRCm39) I18T possibly damaging Het
Slc6a19 C A 13: 73,837,849 (GRCm39) E217* probably null Het
Smtn C A 11: 3,480,165 (GRCm39) R352L possibly damaging Het
Supv3l1 C A 10: 62,265,600 (GRCm39) D647Y probably damaging Het
Sv2a A G 3: 96,092,498 (GRCm39) Y66C probably damaging Het
Upk1b A G 16: 38,605,272 (GRCm39) I107T probably damaging Het
Yif1a T C 19: 5,139,813 (GRCm39) V86A possibly damaging Het
Zfp820 T C 17: 22,038,801 (GRCm39) T176A possibly damaging 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
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
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
Posted On 2016-08-02