Incidental Mutation 'R5387:Rasal2'
ID 482200
Institutional Source Beutler Lab
Gene Symbol Rasal2
Ensembl Gene ENSMUSG00000070565
Gene Name RAS protein activator like 2
Synonyms A330066M24Rik
MMRRC Submission 042959-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5387 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 156962759-157240170 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 156985335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 804 (D804G)
Ref Sequence ENSEMBL: ENSMUSP00000077423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078308] [ENSMUST00000132699]
AlphaFold E9PW37
Predicted Effect possibly damaging
Transcript: ENSMUST00000078308
AA Change: D804G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000077423
Gene: ENSMUSG00000070565
AA Change: D804G

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: D779G

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000114964
Gene: ENSMUSG00000070565
AA Change: D779G

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
Meta Mutation Damage Score 0.0819 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 99% (80/81)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,408,092 (GRCm39) S140T probably benign Het
Ahnak T C 19: 8,981,055 (GRCm39) S780P probably damaging Het
Ankhd1 C A 18: 36,767,697 (GRCm39) H1205N probably damaging Het
Ano1 T C 7: 144,202,356 (GRCm39) K139R probably benign Het
Anp32b T G 4: 46,468,573 (GRCm39) C114W probably damaging Het
Ascl1 C T 10: 87,328,551 (GRCm39) A134T probably damaging Het
Atl2 C T 17: 80,160,229 (GRCm39) E453K probably benign Het
Aup1 C T 6: 83,032,005 (GRCm39) A84V probably damaging Het
Btbd7 A T 12: 102,804,044 (GRCm39) M332K probably damaging Het
Cacna1d A G 14: 29,822,708 (GRCm39) V1107A probably damaging Het
Cd33 G A 7: 43,181,477 (GRCm39) Q114* probably null Het
Cdhr18 C A 14: 13,914,438 (GRCm38) M1I probably null Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Defb22 C A 2: 152,327,826 (GRCm39) A120S unknown Het
Dnah7b A G 1: 46,227,819 (GRCm39) I1347M probably damaging Het
Efcab5 A G 11: 77,025,668 (GRCm39) I549T possibly damaging Het
Esp15 T A 17: 39,955,468 (GRCm39) probably null Het
Fbxo7 A G 10: 85,860,518 (GRCm39) T42A probably benign Het
Filip1 A G 9: 79,725,556 (GRCm39) I1021T probably benign Het
Gad1 C A 2: 70,394,195 (GRCm39) S7* probably null Het
H2ac7 T A 13: 23,758,841 (GRCm39) probably null Het
H2-Q7 C T 17: 35,658,518 (GRCm39) T52M probably damaging Het
H2-T3 C T 17: 36,497,594 (GRCm39) G28R probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ift81 A G 5: 122,693,598 (GRCm39) Y604H probably damaging Het
Igsf11 A G 16: 38,842,785 (GRCm39) Y154C probably damaging Het
Kif26b G T 1: 178,742,441 (GRCm39) A846S probably benign Het
Lnx2 G A 5: 146,964,964 (GRCm39) P420S probably benign Het
Lrit2 A G 14: 36,794,216 (GRCm39) T427A probably damaging Het
Lrrc43 G T 5: 123,637,734 (GRCm39) probably null Het
Mettl25b A T 3: 87,837,318 (GRCm39) probably benign Het
Mug1 T C 6: 121,861,353 (GRCm39) Y1325H probably damaging Het
Naglu A T 11: 100,967,550 (GRCm39) Y500F probably damaging Het
Npy4r A G 14: 33,868,940 (GRCm39) M116T probably benign Het
Nrdc A G 4: 108,896,959 (GRCm39) Y526C probably damaging Het
Nrp2 T C 1: 62,801,972 (GRCm39) S472P probably benign Het
Or12d2 T A 17: 37,625,183 (GRCm39) T31S probably benign Het
Or12k8 T C 2: 36,975,731 (GRCm39) T10A possibly damaging Het
Otogl T A 10: 107,616,794 (GRCm39) T1828S probably benign Het
Pank2 C T 2: 131,116,182 (GRCm39) T200I probably benign Het
Pbrm1 A G 14: 30,804,567 (GRCm39) Y946C probably damaging Het
Pde12 A T 14: 26,387,608 (GRCm39) S437T probably benign Het
Pikfyve A G 1: 65,304,427 (GRCm39) K1710E possibly damaging Het
Plcd3 A G 11: 102,969,281 (GRCm39) S229P probably damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Prkaa2 C A 4: 104,897,374 (GRCm39) D280Y probably damaging Het
Ptprg T A 14: 12,153,873 (GRCm38) S531R probably damaging Het
R3hdm2 T C 10: 127,321,303 (GRCm39) S620P probably damaging Het
Rab33b A G 3: 51,400,876 (GRCm39) T117A probably damaging Het
Rbp3 A G 14: 33,678,370 (GRCm39) T773A possibly damaging Het
Rspry1 A G 8: 95,364,914 (GRCm39) T185A possibly damaging Het
Sec61a2 G T 2: 5,887,356 (GRCm39) probably benign Het
Setx C T 2: 29,037,606 (GRCm39) R1364C probably benign Het
Shtn1 G T 19: 59,026,801 (GRCm39) L97M probably damaging Het
Slc35f1 T C 10: 52,984,260 (GRCm39) L340P probably damaging Het
Slc45a1 T A 4: 150,728,366 (GRCm39) probably benign Het
Slmap T C 14: 26,181,088 (GRCm39) E386G probably benign Het
Smc2 C T 4: 52,475,096 (GRCm39) A924V probably benign Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Tecta G A 9: 42,286,359 (GRCm39) L766F probably damaging Het
Tle3 C T 9: 61,314,771 (GRCm39) probably null Het
Top3a A G 11: 60,653,316 (GRCm39) F53L probably damaging Het
Trappc2b A T 11: 51,576,801 (GRCm39) D32E probably benign Het
Trem1 T C 17: 48,548,541 (GRCm39) I26T possibly damaging Het
Ttc7b G T 12: 100,413,222 (GRCm39) Q199K possibly damaging Het
Ubap2l T C 3: 89,913,903 (GRCm39) Y975C probably benign Het
Ubxn11 C A 4: 133,850,737 (GRCm39) D196E probably damaging Het
Unc80 A G 1: 66,569,180 (GRCm39) H945R possibly damaging Het
Usp15 A G 10: 122,967,191 (GRCm39) I405T probably damaging Het
Uty C T Y: 1,189,339 (GRCm39) E138K probably damaging Het
Wapl A G 14: 34,399,252 (GRCm39) E107G probably benign Het
Wbp1l T C 19: 46,632,896 (GRCm39) probably null Het
Zfp184 T G 13: 22,133,810 (GRCm39) probably benign Het
Zfp36 A C 7: 28,077,293 (GRCm39) L205R possibly damaging 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
IGL00731:Rasal2 APN 1 156,985,334 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- CATGACAGATGCATGCTCCG -3'
(R):5'- CTACCTTTGAGAGAAAACTAGCAATGC -3'

Sequencing Primer
(F):5'- CTGAGCAGCATGAGTGTCCTG -3'
(R):5'- TTCCGCATTGAACCTGTG -3'
Posted On 2017-07-11