Incidental Mutation 'R3770:Rasal3'
ID 273243
Institutional Source Beutler Lab
Gene Symbol Rasal3
Ensembl Gene ENSMUSG00000052142
Gene Name RAS protein activator like 3
Synonyms A430107D22Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R3770 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 32609633-32622557 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 32611125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 912 (L912Q)
Ref Sequence ENSEMBL: ENSMUSP00000116107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063824] [ENSMUST00000064694] [ENSMUST00000087703] [ENSMUST00000135618] [ENSMUST00000137458] [ENSMUST00000163107] [ENSMUST00000169280] [ENSMUST00000171728] [ENSMUST00000170617] [ENSMUST00000170603] [ENSMUST00000136375] [ENSMUST00000165912]
AlphaFold Q8C2K5
Predicted Effect probably damaging
Transcript: ENSMUST00000063824
AA Change: L934Q

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000064084
Gene: ENSMUSG00000052142
AA Change: L934Q

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 probably benign
Transcript: ENSMUST00000064694
SMART Domains Protein: ENSMUSP00000069443
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 532 554 1.67e-2 SMART
low complexity region 576 588 N/A INTRINSIC
low complexity region 607 623 N/A INTRINSIC
ZnF_C2H2 702 724 1.41e0 SMART
low complexity region 784 793 N/A INTRINSIC
low complexity region 869 887 N/A INTRINSIC
ZnF_C2H2 901 927 1.06e2 SMART
low complexity region 936 956 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 probably damaging
Transcript: ENSMUST00000135618
AA Change: L912Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116107
Gene: ENSMUSG00000052142
AA Change: L912Q

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 probably benign
Transcript: ENSMUST00000137458
AA Change: L936Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000123141
Gene: ENSMUSG00000052142
AA Change: L936Q

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: ENSMUST00000172216
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135968
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142203
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141714
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: ENSMUST00000169280
SMART Domains Protein: ENSMUSP00000129700
Gene: ENSMUSG00000024050

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

DomainStartEndE-ValueType
low complexity region 27 35 N/A INTRINSIC
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: 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: 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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox1 T C 11: 116,065,213 (GRCm39) D578G probably damaging Het
Adgrb1 T A 15: 74,460,157 (GRCm39) I543N probably damaging Het
Agbl1 T C 7: 76,075,677 (GRCm39) probably null Het
Ano1 A G 7: 144,149,306 (GRCm39) Y852H probably damaging Het
Apol9a G C 15: 77,288,596 (GRCm39) T257S probably benign Het
Arhgap23 A T 11: 97,366,932 (GRCm39) D1071V probably damaging Het
Atp1a1 T C 3: 101,488,510 (GRCm39) D842G probably benign Het
Brd7 A T 8: 89,066,035 (GRCm39) probably null Het
Btbd7 G A 12: 102,761,451 (GRCm39) P578L probably damaging Het
C3 C T 17: 57,512,303 (GRCm39) D1542N possibly damaging Het
Cfap54 C T 10: 92,714,398 (GRCm39) M2660I unknown Het
Dock7 T C 4: 98,859,066 (GRCm39) T1409A probably benign Het
Exoc3l4 A G 12: 111,391,989 (GRCm39) D410G probably benign Het
Foxk2 CGGGGGG CGGGGGGGGG 11: 121,151,317 (GRCm39) probably benign Het
Herc2 A G 7: 55,814,755 (GRCm39) I2703V probably benign Het
Ifna7 T C 4: 88,734,964 (GRCm39) V167A probably damaging Het
Iqcg G A 16: 32,870,378 (GRCm39) silent Het
Klf3 A G 5: 64,984,560 (GRCm39) probably null Het
Krtap12-1 G T 10: 77,556,729 (GRCm39) V91L probably benign Het
Lipo5 G T 19: 33,445,200 (GRCm39) T123N unknown Het
Macf1 A G 4: 123,268,560 (GRCm39) S4689P probably damaging Het
Map3k5 T A 10: 19,900,765 (GRCm39) V313D probably damaging Het
Mypn C A 10: 62,961,486 (GRCm39) L1035F possibly damaging Het
Neurl1a T C 19: 47,228,328 (GRCm39) L58P probably damaging Het
Or5aq1 C T 2: 86,966,158 (GRCm39) C169Y probably damaging Het
Pla2g5 C G 4: 138,528,746 (GRCm39) C70S probably damaging Het
Pole4 G A 6: 82,599,095 (GRCm39) R119C possibly damaging Het
Ppm1h G T 10: 122,740,027 (GRCm39) L367F probably damaging Het
Ptpru C T 4: 131,535,735 (GRCm39) C414Y probably damaging Het
Reln C T 5: 22,153,564 (GRCm39) V2247M probably damaging Het
Rhot2 T C 17: 26,059,521 (GRCm39) D407G probably benign Het
Rreb1 C T 13: 38,113,579 (GRCm39) R313W possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Scn11a T A 9: 119,613,115 (GRCm39) D825V probably damaging Het
Slc12a3 A G 8: 95,079,668 (GRCm39) H832R probably benign Het
Slc27a2 A G 2: 126,409,718 (GRCm39) D300G possibly damaging Het
Sos1 A G 17: 80,705,737 (GRCm39) V1278A probably damaging Het
Sstr3 C A 15: 78,424,577 (GRCm39) V57L probably damaging Het
Tex2 T A 11: 106,435,078 (GRCm39) R783W unknown Het
Tjp2 A T 19: 24,078,190 (GRCm39) I901N probably benign Het
Top1 A T 2: 160,563,442 (GRCm39) I758F probably damaging Het
Trim41 T C 11: 48,699,911 (GRCm39) E98G possibly damaging Het
Vmn2r65 A T 7: 84,589,623 (GRCm39) N764K probably damaging Het
Vmn2r81 A T 10: 79,106,434 (GRCm39) I471F probably damaging Het
Wdr25 G A 12: 108,864,346 (GRCm39) V164M probably damaging Het
Zdhhc13 T A 7: 48,452,692 (GRCm39) L5M probably damaging Het
Zfp747l1 A G 7: 126,984,035 (GRCm39) probably benign 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
R3870:Rasal3 UTSW 17 32,612,522 (GRCm39) missense possibly damaging 0.94
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'- GGAAGAGATTTGGGCCATCC -3'
(R):5'- AAGGTGACATCCGGTCCAGATC -3'

Sequencing Primer
(F):5'- AAGAGATTTGGGCCATCCTGACC -3'
(R):5'- AAGGATCTTAGGCTCATCTAACTCTG -3'
Posted On 2015-03-25