Incidental Mutation 'R7258:Rasal2'
ID 564394
Institutional Source Beutler Lab
Gene Symbol Rasal2
Ensembl Gene ENSMUSG00000070565
Gene Name RAS protein activator like 2
Synonyms A330066M24Rik
MMRRC Submission 045386-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7258 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 156962759-157240170 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 156985270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 826 (L826M)
Ref Sequence ENSEMBL: ENSMUSP00000077423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078308] [ENSMUST00000132699]
AlphaFold E9PW37
Predicted Effect probably damaging
Transcript: ENSMUST00000078308
AA Change: L826M

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000077423
Gene: ENSMUSG00000070565
AA Change: L826M

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 possibly damaging
Transcript: ENSMUST00000132699
AA Change: L801M

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114964
Gene: ENSMUSG00000070565
AA Change: L801M

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (63/64)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik A C 8: 88,312,805 (GRCm39) S197R probably damaging Het
Abcc12 T C 8: 87,287,486 (GRCm39) R120G possibly damaging Het
Abhd14b A G 9: 106,327,418 (GRCm39) I67V probably benign Het
Alpk1 A T 3: 127,518,115 (GRCm39) V62E probably damaging Het
Ankar A G 1: 72,690,886 (GRCm39) V1196A probably benign Het
Ccr5 A T 9: 123,925,311 (GRCm39) K305* probably null Het
Cdc42bpb T C 12: 111,292,518 (GRCm39) H339R probably damaging Het
Cdhr18 A T 14: 13,899,648 (GRCm38) F91L Het
Cep290 T G 10: 100,334,970 (GRCm39) M330R probably benign Het
Cyfip2 T C 11: 46,115,004 (GRCm39) Y901C probably benign Het
Ddx54 T G 5: 120,758,812 (GRCm39) Y352D probably damaging Het
Defa35 A T 8: 21,555,245 (GRCm39) H55L possibly damaging Het
Dnmt3b T A 2: 153,525,519 (GRCm39) probably null Het
Enpep A C 3: 129,125,724 (GRCm39) L136R probably benign Het
Epb41l2 G A 10: 25,360,185 (GRCm39) A516T probably damaging Het
Frmd4a A T 2: 4,305,764 (GRCm39) Q13L probably benign Het
Frmpd1 C A 4: 45,269,974 (GRCm39) D271E possibly damaging Het
Gbp5 T A 3: 142,212,542 (GRCm39) L410H probably damaging Het
Gipc2 T C 3: 151,871,352 (GRCm39) E58G probably damaging Het
Gm6309 A T 5: 146,105,106 (GRCm39) V269E probably benign Het
Grm5 A T 7: 87,723,914 (GRCm39) T735S probably damaging Het
H6pd T C 4: 150,080,819 (GRCm39) M9V probably benign Het
Hmcn1 A G 1: 150,591,574 (GRCm39) I1875T probably benign Het
Hrc T A 7: 44,985,720 (GRCm39) D290E possibly damaging Het
Iftap T C 2: 101,440,937 (GRCm39) D22G probably null Het
Ippk C A 13: 49,587,338 (GRCm39) Q136K probably benign Het
Kcnv1 T C 15: 44,972,711 (GRCm39) T391A probably damaging Het
Kdm5b A C 1: 134,548,759 (GRCm39) E1088A probably damaging Het
L1td1 C T 4: 98,625,101 (GRCm39) A432V probably benign Het
Ly86 A G 13: 37,529,473 (GRCm39) D20G probably benign Het
Myo1g A G 11: 6,459,416 (GRCm39) I818T possibly damaging Het
Nms A G 1: 38,986,051 (GRCm39) T121A probably benign Het
Or1e31 T G 11: 73,690,206 (GRCm39) I126L probably damaging Het
Or1j4 T A 2: 36,740,352 (GRCm39) I98K probably damaging Het
Or51af1 G C 7: 103,141,796 (GRCm39) C96W probably damaging Het
Or6b3 A T 1: 92,438,898 (GRCm39) I284N possibly damaging Het
Or6c69 T A 10: 129,748,156 (GRCm39) probably benign Het
Or8k37 T A 2: 86,469,345 (GRCm39) K236* probably null Het
Pcdhb9 T C 18: 37,535,167 (GRCm39) L387P probably damaging Het
Pcsk1 G A 13: 75,241,305 (GRCm39) R95H probably damaging Het
Pde11a T C 2: 75,970,250 (GRCm39) D502G possibly damaging Het
Plekhg2 T C 7: 28,064,203 (GRCm39) D446G probably benign Het
Ptch1 T C 13: 63,721,108 (GRCm39) K54E not run Het
Rnf213 A G 11: 119,343,401 (GRCm39) I3589V Het
Sin3b T C 8: 73,476,836 (GRCm39) C757R probably benign Het
Slc41a1 T A 1: 131,769,780 (GRCm39) V300D probably benign Het
Snorc A C 1: 87,402,789 (GRCm39) I40L probably benign Het
Snrpa1 T C 7: 65,719,891 (GRCm39) F162L probably damaging Het
Sox30 C A 11: 45,871,379 (GRCm39) A78E unknown Het
Ssc4d G T 5: 135,991,941 (GRCm39) A401E probably damaging Het
Steap3 A G 1: 120,171,716 (GRCm39) F130L possibly damaging Het
Stx5a A G 19: 8,732,271 (GRCm39) probably null Het
Tgfbr2 A T 9: 115,958,898 (GRCm39) I172N probably damaging Het
Tgm4 A G 9: 122,891,556 (GRCm39) D557G probably benign Het
Tmprss11c A G 5: 86,419,272 (GRCm39) S96P probably damaging Het
Trpa1 T G 1: 14,973,473 (GRCm39) T282P probably damaging Het
Uba5 A T 9: 103,940,132 (GRCm39) V5E unknown Het
Ugt2b36 A T 5: 87,228,762 (GRCm39) L427H probably damaging Het
Utp14b T A 1: 78,642,691 (GRCm39) H196Q probably benign Het
Vmn2r44 T A 7: 8,380,848 (GRCm39) L348F probably damaging Het
Vmn2r93 T G 17: 18,525,403 (GRCm39) L354V probably benign Het
Wwc2 T A 8: 48,296,034 (GRCm39) N1079Y unknown Het
Zfp653 T C 9: 21,977,116 (GRCm39) D145G probably benign Het
Zfp777 T C 6: 48,002,731 (GRCm39) E453G probably damaging Het
Zfp936 T A 7: 42,839,803 (GRCm39) H423Q probably damaging Het
Zfyve9 A T 4: 108,514,151 (GRCm39) Y496N 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
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
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'- CTCACTTGAGGTGCACTCTG -3'
(R):5'- CGCATTGAACCTGTGAAACTTC -3'

Sequencing Primer
(F):5'- ATAGAAAGCTGGCTTCCTGC -3'
(R):5'- ACTTCAGAAGAGTTCATATGCCC -3'
Posted On 2019-06-26