Incidental Mutation 'R7109:Rasal3'
ID 551421
Institutional Source Beutler Lab
Gene Symbol Rasal3
Ensembl Gene ENSMUSG00000052142
Gene Name RAS protein activator like 3
Synonyms A430107D22Rik
MMRRC Submission 045201-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R7109 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 32609633-32622557 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32611683 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 815 (S815P)
Ref Sequence ENSEMBL: ENSMUSP00000123141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063824] [ENSMUST00000064694] [ENSMUST00000087703] [ENSMUST00000135618] [ENSMUST00000136375] [ENSMUST00000137458] [ENSMUST00000163107] [ENSMUST00000165912] [ENSMUST00000169280] [ENSMUST00000170603] [ENSMUST00000170617] [ENSMUST00000171728]
AlphaFold Q8C2K5
Predicted Effect probably damaging
Transcript: ENSMUST00000063824
AA Change: S813P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064084
Gene: ENSMUSG00000052142
AA Change: S813P

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 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 probably damaging
Transcript: ENSMUST00000135618
AA Change: S791P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116107
Gene: ENSMUSG00000052142
AA Change: S791P

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: 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 damaging
Transcript: ENSMUST00000137458
AA Change: S815P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123141
Gene: ENSMUSG00000052142
AA Change: S815P

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 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: ENSMUST00000169280
SMART Domains Protein: ENSMUSP00000129700
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: ENSMUST00000170617
SMART Domains Protein: ENSMUSP00000130517
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T G 2: 151,315,673 (GRCm39) K2Q probably damaging Het
Abtb2 T C 2: 103,545,860 (GRCm39) Y903H probably benign Het
Adamtsl3 C T 7: 82,261,069 (GRCm39) P29S Het
Alcam T A 16: 52,097,192 (GRCm39) T355S probably damaging Het
Anapc1 A G 2: 128,516,522 (GRCm39) V404A probably benign Het
Bst2 A G 8: 71,989,926 (GRCm39) F49S possibly damaging Het
C1qtnf9 G C 14: 61,017,019 (GRCm39) W183S probably benign Het
Camsap3 A G 8: 3,648,087 (GRCm39) I132V possibly damaging Het
Cchcr1 T A 17: 35,828,838 (GRCm39) probably null Het
Cenpk A G 13: 104,367,256 (GRCm39) K31E probably benign Het
Cfap221 T C 1: 119,853,301 (GRCm39) K798E possibly damaging Het
Copb2 T A 9: 98,463,333 (GRCm39) probably null Het
Dennd1a T A 2: 37,938,804 (GRCm39) Y102F probably damaging Het
Eif2ak4 C T 2: 118,235,532 (GRCm39) P88S probably damaging Het
Epha6 C A 16: 59,503,031 (GRCm39) V959F probably damaging Het
Fam193a C A 5: 34,623,165 (GRCm39) T1251K possibly damaging Het
Herc1 A T 9: 66,389,171 (GRCm39) Q3896L probably benign Het
Ikbip C A 10: 90,919,090 (GRCm39) D34E probably benign Het
Insr A G 8: 3,308,481 (GRCm39) V185A probably benign Het
Jakmip1 C T 5: 37,332,109 (GRCm39) Q930* probably null Het
Klc1 A G 12: 111,743,299 (GRCm39) I209V probably benign Het
Lrrk2 T A 15: 91,648,985 (GRCm39) L1660M probably damaging Het
Mbd3l1 G T 9: 18,396,210 (GRCm39) D112Y possibly damaging Het
Mrps2 T A 2: 28,358,258 (GRCm39) V16E probably benign Het
Ncoa1 G A 12: 4,372,978 (GRCm39) T141I possibly damaging Het
Ndst2 G T 14: 20,779,911 (GRCm39) R110S probably damaging Het
Nlrp2 A G 7: 5,331,616 (GRCm39) V260A probably damaging Het
Or4d10 A G 19: 12,051,576 (GRCm39) I140T probably benign Het
Or51a6 A T 7: 102,604,460 (GRCm39) V116E probably damaging Het
Or5p1 A G 7: 107,916,959 (GRCm39) N286S probably damaging Het
Or7g16 A T 9: 18,726,904 (GRCm39) S229T probably benign Het
Pah T C 10: 87,406,148 (GRCm39) V262A probably damaging Het
Pcnt T G 10: 76,205,738 (GRCm39) E2538A probably damaging Het
Pdxk T A 10: 78,282,810 (GRCm39) I162F probably damaging Het
Plod2 T C 9: 92,455,650 (GRCm39) F110L probably damaging Het
Pm20d2 A T 4: 33,187,186 (GRCm39) L154Q probably damaging Het
Podxl2 C T 6: 88,820,566 (GRCm39) V445I possibly damaging Het
Ppp1r3a A T 6: 14,719,235 (GRCm39) W560R probably benign Het
Rdm1 A G 11: 101,524,654 (GRCm39) K196E probably damaging Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Scn1a T C 2: 66,181,286 (GRCm39) D79G possibly damaging Het
Slc22a21 A G 11: 53,870,329 (GRCm39) Y119H possibly damaging Het
Stip1 C T 19: 6,999,178 (GRCm39) G467S possibly damaging Het
Synrg C A 11: 83,930,498 (GRCm39) A1280E possibly damaging Het
Szt2 A G 4: 118,232,676 (GRCm39) C2396R unknown Het
Trappc3 A G 4: 126,167,726 (GRCm39) N95S probably benign Het
Tulp4 C T 17: 6,282,055 (GRCm39) H695Y probably damaging Het
Ush2a T A 1: 188,113,681 (GRCm39) D633E probably benign Het
Wasl G A 6: 24,633,186 (GRCm39) P151S probably benign Het
Wwp2 A G 8: 108,209,988 (GRCm39) N122S probably benign Het
Zfp51 A G 17: 21,683,831 (GRCm39) R149G possibly damaging Het
Zfp764 A G 7: 127,003,887 (GRCm39) S415P possibly 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
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
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'- GTAGTTTGGTATCGGTCCCC -3'
(R):5'- AAGGACAGGGTCTCATCAAAGTC -3'

Sequencing Primer
(F):5'- TACCGATGGCTTCCGAGGTAG -3'
(R):5'- CAGGGTCTCATCAAAGTCATAGGTC -3'
Posted On 2019-05-15