Incidental Mutation 'R5433:Rasal3'
ID 428172
Institutional Source Beutler Lab
Gene Symbol Rasal3
Ensembl Gene ENSMUSG00000052142
Gene Name RAS protein activator like 3
Synonyms A430107D22Rik
MMRRC Submission 042998-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R5433 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 32609633-32622557 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 32612575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 762 (R762Q)
Ref Sequence ENSEMBL: ENSMUSP00000123141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063824] [ENSMUST00000087703] [ENSMUST00000135618] [ENSMUST00000137458] [ENSMUST00000169280] [ENSMUST00000171728] [ENSMUST00000170603] [ENSMUST00000170617] [ENSMUST00000163107] [ENSMUST00000136375]
AlphaFold Q8C2K5
Predicted Effect probably benign
Transcript: ENSMUST00000063824
AA Change: R760Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000064084
Gene: ENSMUSG00000052142
AA Change: R760Q

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 probably benign
Transcript: ENSMUST00000135618
AA Change: R738Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000116107
Gene: ENSMUSG00000052142
AA Change: R738Q

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: R762Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000123141
Gene: ENSMUSG00000052142
AA Change: R762Q

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: ENSMUST00000142203
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135968
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143808
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141714
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172216
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: 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: ENSMUST00000163107
SMART Domains Protein: ENSMUSP00000127943
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
Meta Mutation Damage Score 0.0743 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 100% (58/58)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019D03Rik T C 1: 52,964,657 (GRCm39) S24G probably damaging Het
1810064F22Rik A G 9: 22,119,039 (GRCm39) noncoding transcript Het
Aacs A T 5: 125,592,078 (GRCm39) M589L probably benign Het
Adamts8 A C 9: 30,873,012 (GRCm39) H739P probably benign Het
Atp8b2 T C 3: 89,860,216 (GRCm39) probably benign Het
BC030500 A G 8: 59,366,043 (GRCm39) probably benign Het
Btnl9 T A 11: 49,066,830 (GRCm39) probably benign Het
Cd74 G T 18: 60,940,993 (GRCm39) A31S probably benign Het
Ceacam3 G A 7: 16,893,808 (GRCm39) A440T possibly damaging Het
Ces1d G A 8: 93,912,664 (GRCm39) T258I probably benign Het
Col10a1 A G 10: 34,266,735 (GRCm39) probably benign Het
Coro1b C T 19: 4,203,449 (GRCm39) A430V probably benign Het
Cyp2c65 A T 19: 39,081,928 (GRCm39) I485L probably benign Het
Dio1 A T 4: 107,163,977 (GRCm39) probably benign Het
Dmxl1 G A 18: 50,000,966 (GRCm39) probably null Het
Dynlt5 A G 4: 102,859,700 (GRCm39) E84G possibly damaging Het
Elp6 A G 9: 110,144,851 (GRCm39) Y136C probably damaging Het
Gon4l A T 3: 88,803,532 (GRCm39) Q1382L possibly damaging Het
Guca1a T C 17: 47,711,295 (GRCm39) E17G probably damaging Het
Gucy2d G A 7: 98,098,982 (GRCm39) G267E probably damaging Het
Gvin3 T A 7: 106,199,314 (GRCm39) noncoding transcript Het
Hspg2 T A 4: 137,256,105 (GRCm39) probably null Het
Il1a G T 2: 129,149,821 (GRCm39) D26E possibly damaging Het
Il22b T A 10: 118,130,789 (GRCm39) I36F probably damaging Het
Kcna1 A T 6: 126,620,075 (GRCm39) F82I probably damaging Het
Klhl18 G C 9: 110,265,195 (GRCm39) N335K possibly damaging Het
Lamtor5 T G 3: 107,189,323 (GRCm39) C120G probably benign Het
Lars1 A G 18: 42,384,363 (GRCm39) C72R possibly damaging Het
Lrrfip1 T G 1: 91,014,848 (GRCm39) probably null Het
Mapkapk3 T C 9: 107,133,491 (GRCm39) D349G probably damaging Het
Mknk2 A T 10: 80,503,059 (GRCm39) I421N probably benign Het
Myh6 A G 14: 55,191,381 (GRCm39) I820T probably benign Het
Notch2 T G 3: 98,033,450 (GRCm39) V1182G probably damaging Het
Or1af1 T G 2: 37,109,684 (GRCm39) F61C probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2z2 C T 11: 58,346,680 (GRCm39) V32M probably damaging Het
Ppfia4 A T 1: 134,245,632 (GRCm39) S641T probably damaging Het
Prok1 T A 3: 107,146,949 (GRCm39) H6L probably benign Het
Ptprm A T 17: 67,000,468 (GRCm39) V1172E probably damaging Het
Rgs20 G T 1: 5,140,333 (GRCm39) A23E possibly damaging Het
Rprd1a T C 18: 24,640,288 (GRCm39) T163A probably benign Het
Rrm1 A T 7: 102,114,974 (GRCm39) N37I probably damaging Het
Shc4 T A 2: 125,481,350 (GRCm39) E520V probably damaging Het
Slc14a2 G T 18: 78,252,143 (GRCm39) P56Q probably damaging Het
Slc22a3 C T 17: 12,677,377 (GRCm39) G264S probably damaging Het
Svil A G 18: 5,059,294 (GRCm39) E770G probably damaging Het
Svop A G 5: 114,198,186 (GRCm39) V129A probably damaging Het
Szt2 A T 4: 118,232,663 (GRCm39) probably benign Het
Tcof1 T C 18: 60,951,105 (GRCm39) probably benign Het
Tmem30a T A 9: 79,687,930 (GRCm39) I80F probably damaging Het
Vmn2r16 G T 5: 109,511,708 (GRCm39) L638F probably damaging Het
Xkr7 T A 2: 152,896,244 (GRCm39) I366N probably damaging Het
Zer1 A G 2: 29,990,998 (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
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
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'- ACTCTGGCTATGTGACCACAC -3'
(R):5'- CTCTGCACAATCTTTGCCGAAC -3'

Sequencing Primer
(F):5'- ATGTAATGCCATTCCCAGCC -3'
(R):5'- AATCTTTGCCGAACTTGACCAGG -3'
Posted On 2016-09-01