Incidental Mutation 'IGL02117:Rap1gap'
ID 280420
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rap1gap
Ensembl Gene ENSMUSG00000041351
Gene Name Rap1 GTPase-activating protein
Synonyms Gap, 1300019I11Rik, 2310004O14Rik, Rap1ga1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02117
Quality Score
Status
Chromosome 4
Chromosomal Location 137392037-137457172 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 137454355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 646 (T646M)
Ref Sequence ENSEMBL: ENSMUSP00000042473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047243] [ENSMUST00000097837] [ENSMUST00000105835] [ENSMUST00000141306]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000047243
AA Change: T646M

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000042473
Gene: ENSMUSG00000041351
AA Change: T646M

DomainStartEndE-ValueType
GoLoco 59 81 4.94e-10 SMART
Pfam:Rap_GAP 274 461 1.4e-64 PFAM
low complexity region 485 495 N/A INTRINSIC
low complexity region 630 641 N/A INTRINSIC
low complexity region 680 695 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000097837
AA Change: T613M

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095448
Gene: ENSMUSG00000041351
AA Change: T613M

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
GoLoco 26 48 4.94e-10 SMART
Pfam:Rap_GAP 241 428 1.2e-64 PFAM
low complexity region 452 462 N/A INTRINSIC
low complexity region 597 608 N/A INTRINSIC
low complexity region 647 662 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105835
AA Change: T646M

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101461
Gene: ENSMUSG00000041351
AA Change: T646M

DomainStartEndE-ValueType
GoLoco 59 81 4.94e-10 SMART
Pfam:Rap_GAP 274 455 4.5e-66 PFAM
low complexity region 485 495 N/A INTRINSIC
low complexity region 630 641 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123011
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123134
Predicted Effect possibly damaging
Transcript: ENSMUST00000141306
AA Change: T328M

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000122315
Gene: ENSMUSG00000041351
AA Change: T328M

DomainStartEndE-ValueType
Pfam:Rap_GAP 1 117 1.4e-32 PFAM
low complexity region 141 151 N/A INTRINSIC
low complexity region 312 323 N/A INTRINSIC
low complexity region 362 377 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148054
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144059
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151601
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 type of GTPase-activating-protein (GAP) that down-regulates the activity of the ras-related RAP1 protein. RAP1 acts as a molecular switch by cycling between an inactive GDP-bound form and an active GTP-bound form. The product of this gene, RAP1GAP, promotes the hydrolysis of bound GTP and hence returns RAP1 to the inactive state whereas other proteins, guanine nucleotide exchange factors (GEFs), act as RAP1 activators by facilitating the conversion of RAP1 from the GDP- to the GTP-bound form. In general, ras subfamily proteins, such as RAP1, play key roles in receptor-linked signaling pathways that control cell growth and differentiation. RAP1 plays a role in diverse processes such as cell proliferation, adhesion, differentiation, and embryogenesis. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T A 2: 151,315,466 (GRCm39) M71L probably benign Het
Abcb11 A G 2: 69,154,169 (GRCm39) probably benign Het
Ago4 T C 4: 126,410,645 (GRCm39) T249A probably benign Het
Ahr A T 12: 35,562,922 (GRCm39) C92* probably null Het
Arhgap17 G A 7: 122,885,996 (GRCm39) probably benign Het
Arid1a G T 4: 133,420,126 (GRCm39) T992K unknown Het
Camk2a A G 18: 61,111,061 (GRCm39) I83M probably damaging Het
Ccdc154 T C 17: 25,386,792 (GRCm39) probably null Het
Chtf18 T C 17: 25,941,177 (GRCm39) H607R possibly damaging Het
Col25a1 T C 3: 130,313,422 (GRCm39) probably benign Het
Col9a1 C T 1: 24,276,574 (GRCm39) Q530* probably null Het
Cryl1 G T 14: 57,523,904 (GRCm39) D219E probably damaging Het
Cul3 A T 1: 80,300,781 (GRCm39) probably benign Het
Cul9 C A 17: 46,851,301 (GRCm39) R373L probably benign Het
Exo1 A G 1: 175,721,309 (GRCm39) Y316C possibly damaging Het
Fam114a1 G A 5: 65,187,465 (GRCm39) V408M probably benign Het
Hmcn2 A T 2: 31,347,185 (GRCm39) S4792C possibly damaging Het
Hps5 A G 7: 46,432,940 (GRCm39) F260S probably damaging Het
Hrh4 T C 18: 13,155,477 (GRCm39) S339P probably benign Het
Ist1 A T 8: 110,405,584 (GRCm39) L152Q probably damaging Het
Marco A G 1: 120,418,683 (GRCm39) V190A probably benign Het
Mdn1 T C 4: 32,709,364 (GRCm39) V1711A probably benign Het
Mmp9 A G 2: 164,791,644 (GRCm39) Y179C probably damaging Het
Mrgprb5 A G 7: 47,818,742 (GRCm39) probably benign Het
Mrgprx1 G T 7: 47,671,371 (GRCm39) C125* probably null Het
Msh6 A G 17: 88,298,234 (GRCm39) probably benign Het
Myot C A 18: 44,488,177 (GRCm39) R441S probably benign Het
Or11g7 A G 14: 50,691,399 (GRCm39) R297G possibly damaging Het
Paf1 A G 7: 28,098,115 (GRCm39) probably benign Het
Pde11a A G 2: 75,821,606 (GRCm39) L891P probably damaging Het
Prkar2a T A 9: 108,596,460 (GRCm39) I135N probably damaging Het
Rgs7bp T C 13: 105,088,087 (GRCm39) D229G possibly damaging Het
Rhobtb3 C T 13: 76,025,547 (GRCm39) S523N probably damaging Het
Setd7 A T 3: 51,428,826 (GRCm39) Y335N probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Socs4 T C 14: 47,528,264 (GRCm39) Y400H probably damaging Het
Spag16 A T 1: 69,909,479 (GRCm39) H192L probably damaging Het
Ssh1 A T 5: 114,084,541 (GRCm39) C566* probably null Het
Stap1 T G 5: 86,234,552 (GRCm39) I98S possibly damaging Het
Tgs1 C T 4: 3,585,836 (GRCm39) H238Y probably damaging Het
Tifab T C 13: 56,324,275 (GRCm39) Y56C probably benign Het
Tssk2 A G 16: 17,717,653 (GRCm39) E352G probably benign Het
Vmn2r57 A T 7: 41,049,874 (GRCm39) V625D probably benign Het
Wbp1l T C 19: 46,632,876 (GRCm39) Y75H probably benign Het
Wnt5a T C 14: 28,228,077 (GRCm39) probably benign Het
Other mutations in Rap1gap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00771:Rap1gap APN 4 137,443,835 (GRCm39) missense probably damaging 0.98
IGL01810:Rap1gap APN 4 137,443,466 (GRCm39) missense probably benign 0.07
IGL01944:Rap1gap APN 4 137,452,931 (GRCm39) missense probably damaging 1.00
IGL02271:Rap1gap APN 4 137,445,317 (GRCm39) missense probably damaging 1.00
IGL02272:Rap1gap APN 4 137,443,877 (GRCm39) missense probably damaging 1.00
IGL02590:Rap1gap APN 4 137,447,611 (GRCm39) missense probably damaging 0.98
IGL02626:Rap1gap APN 4 137,454,364 (GRCm39) missense probably benign 0.00
IGL03211:Rap1gap APN 4 137,443,157 (GRCm39) critical splice donor site probably null
R0243:Rap1gap UTSW 4 137,446,662 (GRCm39) missense probably damaging 0.99
R1239:Rap1gap UTSW 4 137,445,307 (GRCm39) missense probably damaging 1.00
R1246:Rap1gap UTSW 4 137,439,405 (GRCm39) missense possibly damaging 0.86
R2264:Rap1gap UTSW 4 137,455,034 (GRCm39) missense probably benign
R2935:Rap1gap UTSW 4 137,452,042 (GRCm39) missense probably benign 0.19
R3840:Rap1gap UTSW 4 137,444,758 (GRCm39) missense probably damaging 1.00
R3841:Rap1gap UTSW 4 137,444,758 (GRCm39) missense probably damaging 1.00
R4619:Rap1gap UTSW 4 137,443,422 (GRCm39) missense probably damaging 1.00
R4821:Rap1gap UTSW 4 137,439,440 (GRCm39) missense probably damaging 0.99
R4998:Rap1gap UTSW 4 137,455,595 (GRCm39) missense possibly damaging 0.80
R5061:Rap1gap UTSW 4 137,447,744 (GRCm39) critical splice donor site probably null
R5800:Rap1gap UTSW 4 137,447,688 (GRCm39) missense probably benign 0.00
R6259:Rap1gap UTSW 4 137,409,068 (GRCm39) critical splice donor site probably null
R7082:Rap1gap UTSW 4 137,446,247 (GRCm39) missense probably damaging 1.00
R7098:Rap1gap UTSW 4 137,443,393 (GRCm39) splice site probably null
R7234:Rap1gap UTSW 4 137,455,851 (GRCm39) nonsense probably null
R7580:Rap1gap UTSW 4 137,447,293 (GRCm39) missense possibly damaging 0.94
R8097:Rap1gap UTSW 4 137,455,597 (GRCm39) missense probably benign 0.02
R8196:Rap1gap UTSW 4 137,445,275 (GRCm39) missense probably benign 0.07
R8278:Rap1gap UTSW 4 137,444,748 (GRCm39) missense probably damaging 1.00
R9022:Rap1gap UTSW 4 137,445,309 (GRCm39) missense probably damaging 1.00
R9157:Rap1gap UTSW 4 137,444,742 (GRCm39) missense probably damaging 0.99
R9290:Rap1gap UTSW 4 137,446,222 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16