Incidental Mutation 'R7558:Rasal2'
ID 584869
Institutional Source Beutler Lab
Gene Symbol Rasal2
Ensembl Gene ENSMUSG00000070565
Gene Name RAS protein activator like 2
Synonyms A330066M24Rik
MMRRC Submission 045625-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7558 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 156962759-157240170 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 157003406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 436 (R436C)
Ref Sequence ENSEMBL: ENSMUSP00000077423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078308] [ENSMUST00000129880] [ENSMUST00000132699] [ENSMUST00000134543] [ENSMUST00000143358]
AlphaFold E9PW37
Predicted Effect probably damaging
Transcript: ENSMUST00000078308
AA Change: R436C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000077423
Gene: ENSMUSG00000070565
AA Change: R436C

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: 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: R418C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114964
Gene: ENSMUSG00000070565
AA Change: R418C

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 98% (56/57)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik G T 11: 23,466,285 (GRCm39) probably null Het
Adgrg6 A T 10: 14,307,351 (GRCm39) M817K probably damaging Het
Adh6b T A 3: 138,058,297 (GRCm39) D53E probably benign Het
Ap3d1 A G 10: 80,558,755 (GRCm39) V283A possibly damaging Het
Arhgap21 A G 2: 20,860,421 (GRCm39) Y1329H probably damaging Het
B3gnt9 T C 8: 105,981,304 (GRCm39) Y28C probably benign Het
Cactin CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG 10: 81,157,152 (GRCm39) probably benign Het
Chrd T A 16: 20,557,304 (GRCm39) V641E probably damaging Het
Clvs2 A T 10: 33,419,460 (GRCm39) I198N probably damaging Het
Cplane1 C T 15: 8,254,851 (GRCm39) R13C unknown Het
Dbndd2 T C 2: 164,332,136 (GRCm39) S120P probably benign Het
Dsg2 G A 18: 20,727,291 (GRCm39) V613I probably benign Het
Dsp A G 13: 38,352,742 (GRCm39) M207V probably benign Het
Fignl2 T C 15: 100,952,264 (GRCm39) E6G probably damaging Het
Fmod A G 1: 133,968,731 (GRCm39) Y257C probably benign Het
Foxk2 T C 11: 121,178,884 (GRCm39) S239P probably benign Het
Fstl5 C T 3: 76,337,092 (GRCm39) T217I possibly damaging Het
Gdi1 G A X: 73,350,461 (GRCm39) R55H probably benign Het
Gm45140 G A 6: 87,798,511 (GRCm39) S34F Het
H2-Q6 A G 17: 35,644,595 (GRCm39) E128G probably benign Het
Hmmr A G 11: 40,624,156 (GRCm39) F11L probably damaging Het
Igfbpl1 G T 4: 45,813,497 (GRCm39) N239K probably damaging Het
Itpr2 G T 6: 146,292,363 (GRCm39) D443E probably damaging Het
Kcnt2 A T 1: 140,450,928 (GRCm39) I736F probably damaging Het
Kctd11 A T 11: 69,770,416 (GRCm39) H207Q probably benign Het
Kif16b A T 2: 142,600,746 (GRCm39) D462E probably damaging Het
Kif5a G A 10: 127,083,948 (GRCm39) T81I probably damaging Het
Lemd2 C A 17: 27,423,137 (GRCm39) A86S probably benign Het
Lrp1b T C 2: 41,231,948 (GRCm39) D1174G Het
Lrrc8b G T 5: 105,629,577 (GRCm39) W641L probably damaging Het
Malt1 T C 18: 65,595,905 (GRCm39) C438R probably damaging Het
Marchf8 T C 6: 116,380,526 (GRCm39) F126L possibly damaging Het
Nalcn C A 14: 123,723,797 (GRCm39) probably null Het
Nyap2 A T 1: 81,247,088 (GRCm39) T679S probably benign Het
Or52n4b C G 7: 108,143,928 (GRCm39) Y65* probably null Het
Or5b3 T A 19: 13,388,355 (GRCm39) C141S probably damaging Het
Otog C A 7: 45,952,584 (GRCm39) P419Q probably damaging Het
Pabpc4 T G 4: 123,188,413 (GRCm39) S341A possibly damaging Het
Pikfyve T A 1: 65,311,782 (GRCm39) H2006Q probably benign Het
Ppp2r5e A T 12: 75,511,766 (GRCm39) V319D probably damaging Het
Ptk2b T C 14: 66,391,628 (GRCm39) S969G possibly damaging Het
Rpap1 A T 2: 119,601,735 (GRCm39) F742I probably benign Het
Ryr2 G A 13: 11,814,711 (GRCm39) T687M probably damaging Het
Sec16a A T 2: 26,329,746 (GRCm39) F7L Het
Slc14a2 A G 18: 78,235,334 (GRCm39) I143T probably benign Het
Slc22a26 T A 19: 7,762,651 (GRCm39) M430L possibly damaging Het
Smarcc1 C A 9: 109,976,184 (GRCm39) T157K probably damaging Het
Tmem87a A G 2: 120,204,991 (GRCm39) I375T probably benign Het
Tmprss15 T C 16: 78,800,302 (GRCm39) I609V possibly damaging Het
Tnk2 C A 16: 32,498,903 (GRCm39) Q739K probably benign Het
Trio T A 15: 27,831,480 (GRCm39) I1340F possibly damaging Het
Trpm6 T C 19: 18,756,029 (GRCm39) F91L probably damaging Het
Vax1 T C 19: 59,158,416 (GRCm39) T16A unknown Het
Vps13d T G 4: 144,881,150 (GRCm39) H1481P Het
Zbtb7a A G 10: 80,984,269 (GRCm39) *570W probably null 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
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
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'- TTTGCACATGGTAAGGAAGGAC -3'
(R):5'- ACCTCTTCATAGCATCACGG -3'

Sequencing Primer
(F):5'- GGTAACATACCCCTTTTGACTTAC -3'
(R):5'- CACGGTTCATATTTATAAGGATGTGG -3'
Posted On 2019-10-17