Incidental Mutation 'R3870:Rasal3'
ID 276544
Institutional Source Beutler Lab
Gene Symbol Rasal3
Ensembl Gene ENSMUSG00000052142
Gene Name RAS protein activator like 3
Synonyms A430107D22Rik
MMRRC Submission 040789-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R3870 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 32609633-32622557 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 32612522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 780 (R780W)
Ref Sequence ENSEMBL: ENSMUSP00000123141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063824] [ENSMUST00000087703] [ENSMUST00000135618] [ENSMUST00000137458] [ENSMUST00000136375] [ENSMUST00000171728] [ENSMUST00000169280] [ENSMUST00000163107] [ENSMUST00000165912] [ENSMUST00000170603] [ENSMUST00000170617]
AlphaFold Q8C2K5
Predicted Effect possibly damaging
Transcript: ENSMUST00000063824
AA Change: R778W

PolyPhen 2 Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000064084
Gene: ENSMUSG00000052142
AA Change: R778W

DomainStartEndE-ValueType
low complexity region 57 72 N/A INTRINSIC
low complexity region 120 137 N/A INTRINSIC
PH 165 323 3.94e0 SMART
Blast:RasGAP 354 381 9e-8 BLAST
low complexity region 385 402 N/A INTRINSIC
RasGAP 433 755 2.03e-81 SMART
low complexity region 826 839 N/A INTRINSIC
coiled coil region 932 1013 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000087699
Predicted Effect probably benign
Transcript: ENSMUST00000087703
SMART Domains Protein: ENSMUSP00000084993
Gene: ENSMUSG00000024050

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
ZnF_C2H2 74 96 8.67e-1 SMART
ZnF_C2H2 175 197 4.72e-2 SMART
ZnF_C2H2 348 370 1.67e-2 SMART
low complexity region 401 412 N/A INTRINSIC
low complexity region 439 458 N/A INTRINSIC
ZnF_C2H2 531 553 1.67e-2 SMART
low complexity region 575 587 N/A INTRINSIC
low complexity region 606 622 N/A INTRINSIC
ZnF_C2H2 701 723 1.41e0 SMART
low complexity region 783 792 N/A INTRINSIC
low complexity region 868 886 N/A INTRINSIC
ZnF_C2H2 900 926 1.06e2 SMART
low complexity region 935 955 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122651
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134723
Predicted Effect possibly damaging
Transcript: ENSMUST00000135618
AA Change: R756W

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000116107
Gene: ENSMUSG00000052142
AA Change: R756W

DomainStartEndE-ValueType
low complexity region 35 50 N/A INTRINSIC
low complexity region 98 115 N/A INTRINSIC
PH 143 301 3.94e0 SMART
Blast:RasGAP 332 359 9e-8 BLAST
low complexity region 363 380 N/A INTRINSIC
RasGAP 411 733 2.03e-81 SMART
low complexity region 804 817 N/A INTRINSIC
coiled coil region 910 991 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135968
Predicted Effect possibly damaging
Transcript: ENSMUST00000137458
AA Change: R780W

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123141
Gene: ENSMUSG00000052142
AA Change: R780W

DomainStartEndE-ValueType
low complexity region 35 50 N/A INTRINSIC
low complexity region 119 140 N/A INTRINSIC
PH 167 325 3.94e0 SMART
Blast:RasGAP 356 383 9e-8 BLAST
low complexity region 387 404 N/A INTRINSIC
RasGAP 435 757 2.03e-81 SMART
low complexity region 828 841 N/A INTRINSIC
coiled coil region 934 1015 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143808
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141714
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142203
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172216
Predicted Effect probably benign
Transcript: ENSMUST00000136375
SMART Domains Protein: ENSMUSP00000118738
Gene: ENSMUSG00000052142

DomainStartEndE-ValueType
low complexity region 35 50 N/A INTRINSIC
low complexity region 98 115 N/A INTRINSIC
PH 143 301 3.94e0 SMART
Blast:RasGAP 332 359 7e-8 BLAST
low complexity region 363 380 N/A INTRINSIC
Pfam:RasGAP 483 579 6.4e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171728
SMART Domains Protein: ENSMUSP00000130054
Gene: ENSMUSG00000024050

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169280
SMART Domains Protein: ENSMUSP00000129700
Gene: ENSMUSG00000024050

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163107
SMART Domains Protein: ENSMUSP00000127943
Gene: ENSMUSG00000024050

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165912
SMART Domains Protein: ENSMUSP00000127651
Gene: ENSMUSG00000024050

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
ZnF_C2H2 74 96 8.67e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170603
SMART Domains Protein: ENSMUSP00000128241
Gene: ENSMUSG00000024050

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170617
SMART Domains Protein: ENSMUSP00000130517
Gene: ENSMUSG00000024050

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 90% (61/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the Ras GTPase-activating proteins (RasGAP) family and encodes a protein with pleckstrin homology (PH), C2, and Ras GTPase-activation protein (RasGAP) domains. This protein is localized near or at the plasma membrane when expressed exogenously. Reduced expression of this gene in some cell lines resulted in increased levels of the active form of Ras (Ras-GTP), suggesting that this gene may play a role in negatively regulating the Ras signaling pathway. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced NT T cells in the liver, increased granulocytes in the bone marrow and decreased susceptibility to alpha-GalCer-induced liver injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028J19Rik T A 7: 43,880,828 (GRCm39) probably null Het
Adam22 C A 5: 8,182,418 (GRCm39) C514F probably damaging Het
Akap8 G A 17: 32,536,813 (GRCm39) probably benign Het
Armcx2 A T X: 133,707,048 (GRCm39) V195E probably benign Het
Atg7 T C 6: 114,674,008 (GRCm39) S301P possibly damaging Het
Cc2d2a C A 5: 43,876,033 (GRCm39) Y1003* probably null Het
Ccdc93 A G 1: 121,390,843 (GRCm39) S272G probably benign Het
Ces1d C G 8: 93,901,714 (GRCm39) L418F probably benign Het
Cntnap5a A G 1: 115,987,979 (GRCm39) E170G probably damaging Het
Cplane1 A T 15: 8,247,948 (GRCm39) K1499M probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Ehd4 T A 2: 119,967,434 (GRCm39) D120V probably damaging Het
Eif4g3 T A 4: 137,824,211 (GRCm39) V71E probably damaging Het
Exoc5 A G 14: 49,256,853 (GRCm39) probably benign Het
Glud1 T A 14: 34,047,537 (GRCm39) probably benign Het
Gm10985 TTCTCTCTCTCTCTCTCT TTCTCTCTCTCTCTCT 3: 53,752,626 (GRCm39) probably null Het
Gm11555 G T 11: 99,540,816 (GRCm39) C64* probably null Het
Gm5468 A G 15: 25,414,561 (GRCm39) probably benign Het
Gpatch2 T A 1: 187,054,491 (GRCm39) L74Q probably damaging Het
Hnrnpa0 G A 13: 58,275,713 (GRCm39) R139C probably damaging Het
Hrh1 A G 6: 114,457,880 (GRCm39) Y387C probably damaging Het
Ldb3 A T 14: 34,289,440 (GRCm39) D216E probably damaging Het
Lingo1 A T 9: 56,527,009 (GRCm39) S533T probably benign Het
Lmtk2 T G 5: 144,103,245 (GRCm39) probably benign Het
Map1s A G 8: 71,369,745 (GRCm39) E939G possibly damaging Het
Mast1 G A 8: 85,645,360 (GRCm39) T695I probably damaging Het
Mettl21e G A 1: 44,245,524 (GRCm39) R241W probably benign Het
Mfsd4a G A 1: 131,974,091 (GRCm39) T261I probably damaging Het
Mmel1 T C 4: 154,968,095 (GRCm39) S144P probably benign Het
Myo16 A T 8: 10,492,239 (GRCm39) H727L probably benign Het
Ncoa6 T C 2: 155,257,477 (GRCm39) probably null Het
Nipa2 T C 7: 55,582,690 (GRCm39) R352G probably damaging Het
Oaf C T 9: 43,134,055 (GRCm39) R222Q probably benign Het
Or2ag2b T A 7: 106,418,047 (GRCm39) Y252* probably null Het
Pard3 T C 8: 128,136,167 (GRCm39) S847P probably damaging Het
Pgbd1 C T 13: 21,618,540 (GRCm39) R39H possibly damaging Het
Plcb1 A C 2: 135,167,591 (GRCm39) I462L probably damaging Het
Prex2 T C 1: 11,230,416 (GRCm39) V814A possibly damaging Het
Rubcnl C T 14: 75,278,356 (GRCm39) P380L probably benign Het
Ryk A G 9: 102,768,427 (GRCm39) E359G probably damaging Het
Sall2 C A 14: 52,551,451 (GRCm39) L579F probably damaging Het
Satb2 A G 1: 56,930,379 (GRCm39) S215P probably damaging Het
Scg3 T C 9: 75,582,781 (GRCm39) probably benign Het
Slc35f5 A G 1: 125,490,098 (GRCm39) T65A probably benign Het
Snx33 T C 9: 56,834,024 (GRCm39) N15S probably benign Het
Stat2 T A 10: 128,113,762 (GRCm39) S180R probably benign Het
Stxbp2 A G 8: 3,684,079 (GRCm39) T129A probably damaging Het
Tas1r3 A T 4: 155,945,810 (GRCm39) C529S probably damaging Het
Tlr12 T A 4: 128,510,361 (GRCm39) M630L probably benign Het
Tnfrsf10b T G 14: 70,010,905 (GRCm39) D103E probably benign Het
Togaram1 A C 12: 65,049,419 (GRCm39) E1285D probably benign Het
Tppp A G 13: 74,178,891 (GRCm39) T111A probably benign Het
Trim12c T C 7: 103,997,544 (GRCm39) Q4R probably benign Het
Ttbk2 T G 2: 120,570,500 (GRCm39) S1149R probably damaging Het
Uncx T C 5: 139,533,120 (GRCm39) L395P probably damaging Het
Usp14 A G 18: 10,002,370 (GRCm39) S314P possibly damaging Het
Usp32 A T 11: 84,897,881 (GRCm39) Y1153* probably null Het
Vmn2r6 T C 3: 64,464,042 (GRCm39) E264G probably damaging Het
Vmn2r77 T C 7: 86,461,050 (GRCm39) F792S probably damaging Het
Vps13c A G 9: 67,792,008 (GRCm39) I425V probably benign Het
Vstm4 C T 14: 32,585,712 (GRCm39) A93V probably benign Het
Xrcc6 T A 15: 81,909,885 (GRCm39) S97T probably benign Het
Zscan20 A G 4: 128,480,218 (GRCm39) C758R probably damaging Het
Other mutations in Rasal3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01126:Rasal3 APN 17 32,616,379 (GRCm39) missense possibly damaging 0.89
IGL02291:Rasal3 APN 17 32,612,711 (GRCm39) unclassified probably benign
IGL02346:Rasal3 APN 17 32,618,323 (GRCm39) missense probably damaging 1.00
IGL02422:Rasal3 APN 17 32,617,947 (GRCm39) missense probably benign 0.11
Beaten UTSW 17 32,610,318 (GRCm39) missense probably benign 0.05
bent UTSW 17 32,615,755 (GRCm39) missense probably damaging 1.00
bowed UTSW 17 32,615,764 (GRCm39) missense probably damaging 1.00
kinked UTSW 17 32,615,324 (GRCm39) nonsense probably null
whipped UTSW 17 32,612,502 (GRCm39) frame shift probably null
R0057:Rasal3 UTSW 17 32,610,357 (GRCm39) missense probably benign 0.00
R0133:Rasal3 UTSW 17 32,622,357 (GRCm39) start codon destroyed probably null 0.89
R0180:Rasal3 UTSW 17 32,618,379 (GRCm39) missense probably benign
R0403:Rasal3 UTSW 17 32,611,764 (GRCm39) splice site probably null
R0452:Rasal3 UTSW 17 32,614,791 (GRCm39) splice site probably benign
R0600:Rasal3 UTSW 17 32,612,500 (GRCm39) missense probably damaging 0.99
R0760:Rasal3 UTSW 17 32,611,146 (GRCm39) missense probably benign 0.00
R1438:Rasal3 UTSW 17 32,612,509 (GRCm39) splice site probably null
R1669:Rasal3 UTSW 17 32,622,072 (GRCm39) missense possibly damaging 0.81
R1914:Rasal3 UTSW 17 32,615,324 (GRCm39) nonsense probably null
R1928:Rasal3 UTSW 17 32,616,327 (GRCm39) missense probably damaging 1.00
R2002:Rasal3 UTSW 17 32,612,585 (GRCm39) missense probably damaging 1.00
R3053:Rasal3 UTSW 17 32,622,413 (GRCm39) missense probably benign 0.03
R3770:Rasal3 UTSW 17 32,611,125 (GRCm39) missense probably damaging 0.99
R4491:Rasal3 UTSW 17 32,610,359 (GRCm39) missense probably damaging 0.99
R4783:Rasal3 UTSW 17 32,615,755 (GRCm39) missense probably damaging 1.00
R4788:Rasal3 UTSW 17 32,618,312 (GRCm39) missense probably benign 0.00
R4903:Rasal3 UTSW 17 32,616,357 (GRCm39) missense probably damaging 1.00
R5185:Rasal3 UTSW 17 32,615,764 (GRCm39) missense probably damaging 1.00
R5372:Rasal3 UTSW 17 32,610,318 (GRCm39) missense probably benign 0.05
R5433:Rasal3 UTSW 17 32,612,575 (GRCm39) missense probably benign 0.00
R5472:Rasal3 UTSW 17 32,615,643 (GRCm39) missense probably damaging 1.00
R5920:Rasal3 UTSW 17 32,614,143 (GRCm39) missense probably damaging 1.00
R6436:Rasal3 UTSW 17 32,616,478 (GRCm39) missense probably damaging 1.00
R6837:Rasal3 UTSW 17 32,622,044 (GRCm39) missense probably benign 0.17
R7047:Rasal3 UTSW 17 32,615,458 (GRCm39) missense probably damaging 1.00
R7109:Rasal3 UTSW 17 32,611,683 (GRCm39) missense probably damaging 1.00
R7179:Rasal3 UTSW 17 32,611,391 (GRCm39) missense probably damaging 0.99
R7571:Rasal3 UTSW 17 32,614,835 (GRCm39) missense possibly damaging 0.76
R7768:Rasal3 UTSW 17 32,615,767 (GRCm39) missense probably damaging 0.96
R7874:Rasal3 UTSW 17 32,615,681 (GRCm39) missense possibly damaging 0.75
R8155:Rasal3 UTSW 17 32,616,381 (GRCm39) missense possibly damaging 0.93
R8265:Rasal3 UTSW 17 32,614,794 (GRCm39) critical splice donor site probably null
R8544:Rasal3 UTSW 17 32,611,093 (GRCm39) missense probably benign
R8677:Rasal3 UTSW 17 32,615,828 (GRCm39) missense probably benign 0.03
R8695:Rasal3 UTSW 17 32,611,736 (GRCm39) missense possibly damaging 0.93
R9037:Rasal3 UTSW 17 32,614,094 (GRCm39) missense probably benign 0.01
R9307:Rasal3 UTSW 17 32,612,502 (GRCm39) frame shift probably null
R9417:Rasal3 UTSW 17 32,615,441 (GRCm39) missense probably benign 0.13
R9486:Rasal3 UTSW 17 32,617,910 (GRCm39) missense probably benign 0.07
R9712:Rasal3 UTSW 17 32,615,536 (GRCm39) missense probably damaging 0.99
RF004:Rasal3 UTSW 17 32,610,081 (GRCm39) missense probably damaging 1.00
X0027:Rasal3 UTSW 17 32,611,500 (GRCm39) missense probably benign 0.00
X0027:Rasal3 UTSW 17 32,610,193 (GRCm39) missense probably damaging 1.00
X0065:Rasal3 UTSW 17 32,622,260 (GRCm39) missense probably damaging 1.00
Z1177:Rasal3 UTSW 17 32,618,284 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- GAACTCTGGCTATGTGACCAC -3'
(R):5'- TTTGCCGAACTTGACCAGGTG -3'

Sequencing Primer
(F):5'- CACACAGTGGGCCCCTC -3'
(R):5'- AACTTGACCAGGTGTGACC -3'
Posted On 2015-04-06