Incidental Mutation 'IGL00731:Rasal2'
ID 13760
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rasal2
Ensembl Gene ENSMUSG00000070565
Gene Name RAS protein activator like 2
Synonyms A330066M24Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00731
Quality Score
Status
Chromosome 1
Chromosomal Location 156962759-157240170 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 156985334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 804 (D804E)
Ref Sequence ENSEMBL: ENSMUSP00000077423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078308] [ENSMUST00000132699]
AlphaFold E9PW37
Predicted Effect probably benign
Transcript: ENSMUST00000078308
AA Change: D804E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000077423
Gene: ENSMUSG00000070565
AA Change: D804E

DomainStartEndE-ValueType
low complexity region 36 47 N/A INTRINSIC
PH 58 307 3.97e-8 SMART
C2 317 413 6.01e-10 SMART
RasGAP 423 767 4.56e-157 SMART
low complexity region 780 791 N/A INTRINSIC
low complexity region 1063 1075 N/A INTRINSIC
low complexity region 1084 1092 N/A INTRINSIC
coiled coil region 1117 1236 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132699
AA Change: D779E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114964
Gene: ENSMUSG00000070565
AA Change: D779E

DomainStartEndE-ValueType
low complexity region 18 29 N/A INTRINSIC
PH 40 289 1.7e-10 SMART
C2 299 395 4e-12 SMART
RasGAP 405 742 4.2e-153 SMART
low complexity region 755 766 N/A INTRINSIC
low complexity region 1038 1050 N/A INTRINSIC
low complexity region 1059 1067 N/A INTRINSIC
coiled coil region 1092 1211 N/A INTRINSIC
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 protein that contains the GAP-related domain (GRD), a characteristic domain of GTPase-activating proteins (GAPs). GAPs function as activators of Ras superfamily of small GTPases. The protein encoded by this gene is able to complement the defective RasGAP function in a yeast system. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit reduced survival and decreased tumor latency. In other tumorigenic models, this allele promotes increase metastatic potential. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A G 8: 111,771,501 (GRCm39) probably benign Het
Adcy10 T C 1: 165,400,183 (GRCm39) F1531L probably benign Het
Cgas G A 9: 78,342,770 (GRCm39) P344L probably damaging Het
Dab2 T C 15: 6,465,191 (GRCm39) S463P possibly damaging Het
Ehf C T 2: 103,097,185 (GRCm39) probably null Het
Fnbp4 G T 2: 90,598,987 (GRCm39) V704L probably benign Het
Gbp7 T C 3: 142,252,189 (GRCm39) S591P probably benign Het
Gpr155 A G 2: 73,192,957 (GRCm39) L498P probably damaging Het
Igll1 T C 16: 16,678,783 (GRCm39) T176A probably benign Het
Klk1b21 A G 7: 43,755,347 (GRCm39) E182G possibly damaging Het
Npat G A 9: 53,473,386 (GRCm39) E393K probably damaging Het
Npnt C T 3: 132,610,418 (GRCm39) probably null Het
Pde2a A G 7: 101,157,306 (GRCm39) Y693C probably benign Het
Ralgapa1 A G 12: 55,749,237 (GRCm39) S1269P possibly damaging Het
Rdh10 A G 1: 16,178,099 (GRCm39) N124D probably benign Het
Slit3 G T 11: 35,512,981 (GRCm39) D536Y probably damaging Het
Snx24 C T 18: 53,517,681 (GRCm39) probably benign Het
Spink12 G A 18: 44,241,177 (GRCm39) probably benign Het
Other mutations in Rasal2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00473:Rasal2 APN 1 156,975,387 (GRCm39) missense probably benign
IGL00484:Rasal2 APN 1 157,001,745 (GRCm39) splice site probably null
IGL00900:Rasal2 APN 1 157,239,499 (GRCm39) missense possibly damaging 0.73
IGL01346:Rasal2 APN 1 156,988,786 (GRCm39) missense probably benign 0.19
IGL01635:Rasal2 APN 1 156,991,394 (GRCm39) missense probably damaging 1.00
IGL01759:Rasal2 APN 1 157,003,502 (GRCm39) missense probably benign 0.42
IGL01939:Rasal2 APN 1 157,003,480 (GRCm39) missense probably damaging 1.00
IGL01954:Rasal2 APN 1 157,003,686 (GRCm39) missense probably damaging 0.99
IGL01954:Rasal2 APN 1 157,005,269 (GRCm39) missense possibly damaging 0.83
IGL02005:Rasal2 APN 1 156,984,568 (GRCm39) nonsense probably null
IGL02056:Rasal2 APN 1 157,126,831 (GRCm39) missense probably damaging 0.99
IGL02444:Rasal2 APN 1 157,126,765 (GRCm39) missense probably benign 0.20
IGL02496:Rasal2 APN 1 156,977,449 (GRCm39) missense possibly damaging 0.69
IGL02832:Rasal2 APN 1 156,984,777 (GRCm39) missense probably damaging 1.00
IGL03351:Rasal2 APN 1 157,020,311 (GRCm39) splice site probably benign
R0456:Rasal2 UTSW 1 156,977,413 (GRCm39) missense probably damaging 1.00
R0537:Rasal2 UTSW 1 156,975,362 (GRCm39) missense possibly damaging 0.46
R0681:Rasal2 UTSW 1 156,984,750 (GRCm39) missense possibly damaging 0.70
R0682:Rasal2 UTSW 1 157,006,779 (GRCm39) missense probably damaging 1.00
R0683:Rasal2 UTSW 1 157,006,779 (GRCm39) missense probably damaging 1.00
R0787:Rasal2 UTSW 1 156,986,266 (GRCm39) missense probably damaging 1.00
R0789:Rasal2 UTSW 1 156,984,891 (GRCm39) missense probably damaging 1.00
R1109:Rasal2 UTSW 1 157,005,208 (GRCm39) unclassified probably benign
R1175:Rasal2 UTSW 1 156,975,218 (GRCm39) missense probably damaging 1.00
R1332:Rasal2 UTSW 1 157,003,391 (GRCm39) missense probably benign 0.00
R1396:Rasal2 UTSW 1 156,992,236 (GRCm39) missense probably damaging 1.00
R1535:Rasal2 UTSW 1 157,057,629 (GRCm39) missense probably benign 0.28
R1542:Rasal2 UTSW 1 157,003,421 (GRCm39) missense possibly damaging 0.84
R1703:Rasal2 UTSW 1 156,985,170 (GRCm39) missense probably damaging 1.00
R1735:Rasal2 UTSW 1 157,001,730 (GRCm39) missense probably damaging 1.00
R1762:Rasal2 UTSW 1 157,126,714 (GRCm39) missense possibly damaging 0.52
R2570:Rasal2 UTSW 1 156,988,870 (GRCm39) missense possibly damaging 0.85
R3148:Rasal2 UTSW 1 157,071,334 (GRCm39) intron probably benign
R3157:Rasal2 UTSW 1 156,986,225 (GRCm39) splice site probably benign
R4277:Rasal2 UTSW 1 156,984,696 (GRCm39) missense possibly damaging 0.46
R4459:Rasal2 UTSW 1 157,003,402 (GRCm39) missense possibly damaging 0.46
R4460:Rasal2 UTSW 1 157,003,402 (GRCm39) missense possibly damaging 0.46
R4563:Rasal2 UTSW 1 157,003,561 (GRCm39) missense probably damaging 1.00
R4672:Rasal2 UTSW 1 157,071,231 (GRCm39) missense probably benign 0.10
R4894:Rasal2 UTSW 1 157,020,374 (GRCm39) missense probably damaging 0.97
R5147:Rasal2 UTSW 1 157,003,264 (GRCm39) missense probably damaging 1.00
R5387:Rasal2 UTSW 1 156,985,335 (GRCm39) missense possibly damaging 0.81
R5421:Rasal2 UTSW 1 157,126,711 (GRCm39) missense probably benign 0.37
R5459:Rasal2 UTSW 1 156,985,231 (GRCm39) missense probably damaging 0.99
R5651:Rasal2 UTSW 1 156,984,951 (GRCm39) missense probably damaging 1.00
R5767:Rasal2 UTSW 1 157,003,732 (GRCm39) missense probably damaging 1.00
R5778:Rasal2 UTSW 1 156,988,860 (GRCm39) missense probably damaging 1.00
R6298:Rasal2 UTSW 1 157,239,432 (GRCm39) missense possibly damaging 0.85
R6332:Rasal2 UTSW 1 157,126,757 (GRCm39) missense probably damaging 1.00
R6571:Rasal2 UTSW 1 156,988,749 (GRCm39) missense possibly damaging 0.72
R7258:Rasal2 UTSW 1 156,985,270 (GRCm39) missense probably damaging 0.96
R7545:Rasal2 UTSW 1 157,020,339 (GRCm39) missense possibly damaging 0.93
R7558:Rasal2 UTSW 1 157,003,406 (GRCm39) missense probably damaging 0.99
R7894:Rasal2 UTSW 1 157,071,218 (GRCm39) missense probably benign 0.01
R8140:Rasal2 UTSW 1 157,126,805 (GRCm39) missense probably damaging 0.97
R8141:Rasal2 UTSW 1 156,992,240 (GRCm39) missense possibly damaging 0.89
R8151:Rasal2 UTSW 1 157,071,154 (GRCm39) missense probably damaging 0.96
R8218:Rasal2 UTSW 1 156,984,951 (GRCm39) missense probably damaging 0.99
R8517:Rasal2 UTSW 1 156,973,849 (GRCm39) critical splice acceptor site probably null
R9021:Rasal2 UTSW 1 157,058,514 (GRCm39) missense unknown
RF024:Rasal2 UTSW 1 156,975,360 (GRCm39) missense probably damaging 0.97
Z1177:Rasal2 UTSW 1 157,003,243 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06