Incidental Mutation 'IGL01939:Rasal2'
ID180789
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rasal2
Ensembl Gene ENSMUSG00000070565
Gene NameRAS protein activator like 2
SynonymsA330066M24Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01939
Quality Score
Status
Chromosome1
Chromosomal Location157135182-157412595 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 157175910 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 393 (E393G)
Ref Sequence ENSEMBL: ENSMUSP00000114964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078308] [ENSMUST00000129880] [ENSMUST00000132699] [ENSMUST00000134543] [ENSMUST00000143358]
Predicted Effect probably damaging
Transcript: ENSMUST00000078308
AA Change: E411G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000077423
Gene: ENSMUSG00000070565
AA Change: E411G

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 noncoding transcript
Transcript: ENSMUST00000128538
Predicted Effect probably benign
Transcript: ENSMUST00000129880
SMART Domains Protein: ENSMUSP00000118367
Gene: ENSMUSG00000070565

DomainStartEndE-ValueType
PH 128 243 8.46e-3 SMART
Pfam:C2 252 323 1.7e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000132699
AA Change: E393G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114964
Gene: ENSMUSG00000070565
AA Change: E393G

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
Predicted Effect probably benign
Transcript: ENSMUST00000134543
SMART Domains Protein: ENSMUSP00000119623
Gene: ENSMUSG00000070565

DomainStartEndE-ValueType
PH 45 160 8.46e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143358
SMART Domains Protein: ENSMUSP00000116974
Gene: ENSMUSG00000070565

DomainStartEndE-ValueType
Blast:PH 1 147 2e-83 BLAST
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 G T 4: 129,992,132 D22Y probably damaging Het
Ak7 T C 12: 105,734,924 V242A probably benign Het
Cacna1b T C 2: 24,661,757 N1127S probably damaging Het
Cacnb2 A T 2: 14,971,569 H267L probably benign Het
Ces1b C T 8: 93,079,431 G61R probably damaging Het
Cgnl1 T A 9: 71,725,004 D355V probably damaging Het
Col24a1 T C 3: 145,315,244 S459P probably damaging Het
Crygd T C 1: 65,062,026 T137A probably benign Het
Dctn4 T A 18: 60,544,130 M174K probably benign Het
Evi5 A G 5: 107,816,924 probably benign Het
Fat2 T G 11: 55,283,980 D1969A probably benign Het
Fcrl5 A T 3: 87,446,299 E317V probably damaging Het
Foxf2 G T 13: 31,626,714 S212I probably damaging Het
Gm21759 T A 5: 8,180,685 probably benign Het
Gm5414 A G 15: 101,625,670 probably benign Het
Gm7275 T C 16: 48,073,583 noncoding transcript Het
Hspa9 T C 18: 34,938,708 E613G possibly damaging Het
Il1rl1 A G 1: 40,462,008 I515V possibly damaging Het
Ins1 G T 19: 52,264,735 A38S probably damaging Het
Klhl31 A G 9: 77,655,206 N418D probably benign Het
Magi3 T C 3: 104,054,462 K417E probably damaging Het
Msh4 A G 3: 153,857,589 Y823H probably damaging Het
Myo6 T A 9: 80,260,818 D421E probably damaging Het
Myom3 T C 4: 135,765,589 S150P possibly damaging Het
Nectin1 C T 9: 43,792,574 probably benign Het
Nkx1-2 A T 7: 132,599,474 I18N probably damaging Het
Olfr1006 T C 2: 85,674,941 D70G probably damaging Het
Olfr1193 A G 2: 88,678,733 T286A probably damaging Het
Olfr1467 A T 19: 13,365,443 I272F probably benign Het
Olfr952 A C 9: 39,426,338 H244Q probably damaging Het
Pde8b T C 13: 95,095,724 R237G probably damaging Het
Pp2d1 G A 17: 53,515,139 L300F probably damaging Het
Ptpn21 A T 12: 98,689,161 Y516N probably damaging Het
Ptprm T A 17: 67,063,163 probably benign Het
Rabggtb A G 3: 153,912,013 V16A probably damaging Het
Rangap1 A T 15: 81,720,663 C82S probably damaging Het
Rasgrf1 A T 9: 89,974,836 E449V probably damaging Het
Rrp12 A T 19: 41,870,895 H1143Q probably damaging Het
Scap T C 9: 110,379,481 I530T probably benign Het
Sel1l T A 12: 91,816,247 Q482L probably damaging Het
Serpinb9b T C 13: 33,039,665 M280T probably damaging Het
Slc39a10 T A 1: 46,832,735 H348L probably benign Het
Slc7a2 T C 8: 40,914,083 L542P possibly damaging Het
Tas1r2 A T 4: 139,669,177 Q609L probably damaging Het
Tbc1d14 A T 5: 36,508,437 probably benign Het
Tfb2m A G 1: 179,537,697 probably null Het
Tpo T C 12: 30,084,647 T771A possibly damaging Het
Tpr G A 1: 150,413,745 R609H possibly damaging Het
Usp34 T A 11: 23,345,141 probably benign Het
Vmn1r193 G T 13: 22,219,723 S33* probably null Het
Vmn2r104 A C 17: 20,029,925 S695A probably damaging Het
Vmn2r24 A G 6: 123,787,445 D427G probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfp362 A G 4: 128,787,053 S160P probably benign Het
Other mutations in Rasal2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00473:Rasal2 APN 1 157147817 missense probably benign
IGL00484:Rasal2 APN 1 157174175 splice site probably null
IGL00731:Rasal2 APN 1 157157764 missense probably benign 0.01
IGL00900:Rasal2 APN 1 157411929 missense possibly damaging 0.73
IGL01346:Rasal2 APN 1 157161216 missense probably benign 0.19
IGL01635:Rasal2 APN 1 157163824 missense probably damaging 1.00
IGL01759:Rasal2 APN 1 157175932 missense probably benign 0.42
IGL01954:Rasal2 APN 1 157177699 missense possibly damaging 0.83
IGL01954:Rasal2 APN 1 157176116 missense probably damaging 0.99
IGL02005:Rasal2 APN 1 157156998 nonsense probably null
IGL02056:Rasal2 APN 1 157299261 missense probably damaging 0.99
IGL02444:Rasal2 APN 1 157299195 missense probably benign 0.20
IGL02496:Rasal2 APN 1 157149879 missense possibly damaging 0.69
IGL02832:Rasal2 APN 1 157157207 missense probably damaging 1.00
IGL03351:Rasal2 APN 1 157192741 splice site probably benign
R0456:Rasal2 UTSW 1 157149843 missense probably damaging 1.00
R0537:Rasal2 UTSW 1 157147792 missense possibly damaging 0.46
R0681:Rasal2 UTSW 1 157157180 missense possibly damaging 0.70
R0682:Rasal2 UTSW 1 157179209 missense probably damaging 1.00
R0683:Rasal2 UTSW 1 157179209 missense probably damaging 1.00
R0787:Rasal2 UTSW 1 157158696 missense probably damaging 1.00
R0789:Rasal2 UTSW 1 157157321 missense probably damaging 1.00
R1109:Rasal2 UTSW 1 157177638 unclassified probably benign
R1175:Rasal2 UTSW 1 157147648 missense probably damaging 1.00
R1332:Rasal2 UTSW 1 157175821 missense probably benign 0.00
R1396:Rasal2 UTSW 1 157164666 missense probably damaging 1.00
R1535:Rasal2 UTSW 1 157230059 missense probably benign 0.28
R1542:Rasal2 UTSW 1 157175851 missense possibly damaging 0.84
R1703:Rasal2 UTSW 1 157157600 missense probably damaging 1.00
R1735:Rasal2 UTSW 1 157174160 missense probably damaging 1.00
R1762:Rasal2 UTSW 1 157299144 missense possibly damaging 0.52
R2570:Rasal2 UTSW 1 157161300 missense possibly damaging 0.85
R3148:Rasal2 UTSW 1 157243764 intron probably benign
R3157:Rasal2 UTSW 1 157158655 splice site probably benign
R4277:Rasal2 UTSW 1 157157126 missense possibly damaging 0.46
R4459:Rasal2 UTSW 1 157175832 missense possibly damaging 0.46
R4460:Rasal2 UTSW 1 157175832 missense possibly damaging 0.46
R4563:Rasal2 UTSW 1 157175991 missense probably damaging 1.00
R4672:Rasal2 UTSW 1 157243661 missense probably benign 0.10
R4894:Rasal2 UTSW 1 157192804 missense probably damaging 0.97
R5147:Rasal2 UTSW 1 157175694 missense probably damaging 1.00
R5387:Rasal2 UTSW 1 157157765 missense possibly damaging 0.81
R5421:Rasal2 UTSW 1 157299141 missense probably benign 0.37
R5459:Rasal2 UTSW 1 157157661 missense probably damaging 0.99
R5651:Rasal2 UTSW 1 157157381 missense probably damaging 1.00
R5767:Rasal2 UTSW 1 157176162 missense probably damaging 1.00
R5778:Rasal2 UTSW 1 157161290 missense probably damaging 1.00
R6298:Rasal2 UTSW 1 157411862 missense possibly damaging 0.85
R6332:Rasal2 UTSW 1 157299187 missense probably damaging 1.00
R6571:Rasal2 UTSW 1 157161179 missense possibly damaging 0.72
R7258:Rasal2 UTSW 1 157157700 missense probably damaging 0.96
R7545:Rasal2 UTSW 1 157192769 missense possibly damaging 0.93
R7558:Rasal2 UTSW 1 157175836 missense probably damaging 0.99
R7894:Rasal2 UTSW 1 157243648 missense probably benign 0.01
R8140:Rasal2 UTSW 1 157299235 missense probably damaging 0.97
R8141:Rasal2 UTSW 1 157164670 missense possibly damaging 0.89
R8151:Rasal2 UTSW 1 157243584 missense probably damaging 0.96
R8218:Rasal2 UTSW 1 157157381 missense probably damaging 0.99
R8517:Rasal2 UTSW 1 157146279 critical splice acceptor site probably null
RF024:Rasal2 UTSW 1 157147790 missense probably damaging 0.97
Z1177:Rasal2 UTSW 1 157175673 missense probably damaging 1.00
Posted On2014-05-07