Incidental Mutation 'R1735:Rasal2'
ID 199607
Institutional Source Beutler Lab
Gene Symbol Rasal2
Ensembl Gene ENSMUSG00000070565
Gene Name RAS protein activator like 2
Synonyms A330066M24Rik
MMRRC Submission 039767-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1735 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 156962759-157240170 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 157001730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 518 (Y518C)
Ref Sequence ENSEMBL: ENSMUSP00000114964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078308] [ENSMUST00000129880] [ENSMUST00000132699] [ENSMUST00000134543] [ENSMUST00000143358]
AlphaFold E9PW37
Predicted Effect probably damaging
Transcript: ENSMUST00000078308
AA Change: Y536C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077423
Gene: ENSMUSG00000070565
AA Change: Y536C

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: Y518C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114964
Gene: ENSMUSG00000070565
AA Change: Y518C

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: 97.6%
  • 3x: 97.0%
  • 10x: 95.3%
  • 20x: 92.1%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot5 A T 12: 84,122,261 (GRCm39) I282F probably benign Het
Adam19 C A 11: 46,029,744 (GRCm39) Q730K probably benign Het
Adgrv1 A G 13: 81,636,066 (GRCm39) V3481A possibly damaging Het
Akr1c20 T C 13: 4,537,207 (GRCm39) D316G probably benign Het
Ap3b1 G A 13: 94,630,225 (GRCm39) V827I unknown Het
Aph1a T A 3: 95,802,821 (GRCm39) D140E probably damaging Het
Arhgef19 G T 4: 140,976,929 (GRCm39) V502L possibly damaging Het
Arl9 T C 5: 77,154,473 (GRCm39) F67S probably damaging Het
B430305J03Rik G A 3: 61,271,361 (GRCm39) probably benign Het
B4galnt2 A G 11: 95,781,809 (GRCm39) F119L probably damaging Het
Bcap29 T A 12: 31,680,839 (GRCm39) N49I probably damaging Het
Capn11 T A 17: 45,943,327 (GRCm39) K616* probably null Het
Cdh12 T A 15: 21,520,452 (GRCm39) Y306N probably damaging Het
Cep350 T A 1: 155,828,960 (GRCm39) N315Y probably damaging Het
Cfap300 A C 9: 8,027,266 (GRCm39) S91A probably benign Het
Cited2 C A 10: 17,599,794 (GRCm39) P34Q probably damaging Het
Cmya5 A T 13: 93,226,297 (GRCm39) D2930E probably benign Het
Cog3 T A 14: 75,966,761 (GRCm39) K470* probably null Het
Commd10 A G 18: 47,123,552 (GRCm39) T136A probably benign Het
Csf2ra C A 19: 61,214,782 (GRCm39) D181Y probably damaging Het
Csmd1 T A 8: 15,982,610 (GRCm39) I2686F probably damaging Het
Dhx29 T C 13: 113,081,620 (GRCm39) S415P probably benign Het
Dsel A T 1: 111,788,645 (GRCm39) F630Y probably damaging Het
Ell T A 8: 71,031,590 (GRCm39) I96N possibly damaging Het
Ephx2 T A 14: 66,325,752 (GRCm39) I358L probably benign Het
Fam162b A G 10: 51,463,307 (GRCm39) I120T probably damaging Het
Fam187a T C 11: 102,776,606 (GRCm39) Y137H probably damaging Het
Fastk T C 5: 24,646,801 (GRCm39) E403G probably damaging Het
Fcrlb C A 1: 170,734,901 (GRCm39) V409F probably benign Het
Flot2 G T 11: 77,948,831 (GRCm39) A269S probably benign Het
Gpd2 T A 2: 57,245,563 (GRCm39) N419K probably damaging Het
Hecw1 A T 13: 14,552,350 (GRCm39) M61K probably null Het
Htr2a T C 14: 74,943,568 (GRCm39) F383L probably damaging Het
Kctd6 C T 14: 8,222,253 (GRCm38) R32C probably damaging Het
Khdc1a A G 1: 21,421,189 (GRCm39) T125A probably benign Het
Klhl40 T C 9: 121,609,004 (GRCm39) S390P probably benign Het
Lonp1 G A 17: 56,921,956 (GRCm39) T808I probably damaging Het
Loxhd1 A C 18: 77,492,585 (GRCm39) D1342A probably damaging Het
Lrat T C 3: 82,804,417 (GRCm39) I187V probably benign Het
Lrif1 T C 3: 106,643,162 (GRCm39) *238Q probably null Het
Lrp2bp T C 8: 46,465,025 (GRCm39) F48S probably benign Het
Mafg A G 11: 120,520,504 (GRCm39) M32T possibly damaging Het
Map4 C T 9: 109,864,023 (GRCm39) T416I probably benign Het
N4bp2 T C 5: 65,965,659 (GRCm39) F1236S probably damaging Het
Nfatc3 A G 8: 106,810,466 (GRCm39) D414G probably damaging Het
Nhsl3 G T 4: 129,117,370 (GRCm39) S476R probably damaging Het
Nrip2 T G 6: 128,382,037 (GRCm39) V50G probably damaging Het
Or10aa3 A T 1: 173,878,365 (GRCm39) K142I probably benign Het
Or10j5 A G 1: 172,784,374 (GRCm39) N4S probably benign Het
Or52ae7 T A 7: 103,119,353 (GRCm39) F36I possibly damaging Het
Or5b24 T A 19: 12,912,207 (GRCm39) I35N probably damaging Het
Pcdhb18 A T 18: 37,623,822 (GRCm39) H384L probably benign Het
Pik3r1 A T 13: 101,822,882 (GRCm39) Y607N probably damaging Het
Plagl2 G A 2: 153,074,397 (GRCm39) T168I probably damaging Het
Polr2a A G 11: 69,633,222 (GRCm39) S912P probably damaging Het
Ppp1r16b A G 2: 158,603,415 (GRCm39) K447E possibly damaging Het
Prkd1 T C 12: 50,388,822 (GRCm39) E907G possibly damaging Het
Rabep2 A G 7: 126,043,712 (GRCm39) R470G probably damaging Het
Rbmxl1 A G 8: 79,232,711 (GRCm39) Y211H probably damaging Het
Rdh7 T C 10: 127,720,454 (GRCm39) Y306C probably benign Het
Rtn3 T C 19: 7,435,276 (GRCm39) I220V probably damaging Het
Scn8a A G 15: 100,913,742 (GRCm39) N1045D possibly damaging Het
Scube1 T C 15: 83,491,638 (GRCm39) H952R probably damaging Het
Sf3b1 A G 1: 55,039,811 (GRCm39) I690T probably damaging Het
Sharpin T C 15: 76,232,136 (GRCm39) K240R probably benign Het
Skint5 A G 4: 113,420,656 (GRCm39) I1108T unknown Het
Snip1 A G 4: 124,964,994 (GRCm39) D133G probably benign Het
St3gal3 T C 4: 117,871,971 (GRCm39) Y77C probably damaging Het
Sytl3 T C 17: 6,982,880 (GRCm39) V112A probably benign Het
Tnxb C T 17: 34,936,944 (GRCm39) P3718S probably damaging Het
Ttc24 A T 3: 87,980,401 (GRCm39) probably null Het
Ubr3 A T 2: 69,839,473 (GRCm39) E1529V probably damaging Het
Utrn T A 10: 12,585,882 (GRCm39) H965L probably benign Het
Xrn2 T A 2: 146,903,343 (GRCm39) L781Q probably damaging Het
Zbtb11 T C 16: 55,811,045 (GRCm39) I401T probably benign Het
Zc3h14 C T 12: 98,724,839 (GRCm39) P167L probably damaging Het
Zfp609 G T 9: 65,610,374 (GRCm39) S863* 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
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
Predicted Primers PCR Primer
(F):5'- TGAATGTGCTGGGAAGGACAGTTTAC -3'
(R):5'- ACCAGAGCCGAGAGGTTAGCATTAG -3'

Sequencing Primer
(F):5'- AAGGACAGTTTACAGTTGAAACC -3'
(R):5'- TTGAGAGCTGGCATTACATAAGC -3'
Posted On 2014-05-23