Incidental Mutation 'R1980:Rasa2'
ID 222160
Institutional Source Beutler Lab
Gene Symbol Rasa2
Ensembl Gene ENSMUSG00000032413
Gene Name RAS p21 protein activator 2
Synonyms GAP1m, 5430433H21Rik
MMRRC Submission 039992-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R1980 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 96421353-96513665 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96452821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 355 (D355G)
Ref Sequence ENSEMBL: ENSMUSP00000034984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034984] [ENSMUST00000128346]
AlphaFold P58069
Predicted Effect probably damaging
Transcript: ENSMUST00000034984
AA Change: D355G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034984
Gene: ENSMUSG00000032413
AA Change: D355G

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
C2 38 136 3.78e-16 SMART
C2 171 287 8.48e-19 SMART
RasGAP 300 641 7.05e-140 SMART
PH 604 706 1.98e-17 SMART
BTK 706 742 1.39e-18 SMART
low complexity region 824 838 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128346
SMART Domains Protein: ENSMUSP00000115629
Gene: ENSMUSG00000032413

DomainStartEndE-ValueType
C2 3 79 6.86e-5 SMART
C2 114 230 8.48e-19 SMART
RasGAP 243 584 7.05e-140 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144376
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190537
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly A C 11: 100,386,702 (GRCm39) I620S possibly damaging Het
Acot8 A G 2: 164,636,964 (GRCm39) F262S probably damaging Het
Adgb C T 10: 10,309,242 (GRCm39) V246I probably benign Het
Akap9 T A 5: 4,022,771 (GRCm39) M1200K probably damaging Het
Alg11 T A 8: 22,551,903 (GRCm39) F16I possibly damaging Het
Apol7c A G 15: 77,410,244 (GRCm39) V234A probably benign Het
Arhgap19 T G 19: 41,776,784 (GRCm39) I122L possibly damaging Het
Arhgef37 A G 18: 61,641,767 (GRCm39) S201P probably damaging Het
Asgr1 A T 11: 69,945,772 (GRCm39) D16V probably damaging Het
Camta2 A T 11: 70,573,308 (GRCm39) C227S probably benign Het
Cd22 A T 7: 30,572,658 (GRCm39) L317Q probably damaging Het
Cenpf A T 1: 189,386,112 (GRCm39) I2056K probably benign Het
Cenpi T A X: 133,218,782 (GRCm39) F161L possibly damaging Het
Ciapin1 C T 8: 95,559,161 (GRCm39) V43I probably benign Het
Cox5b-ps T G 13: 21,685,294 (GRCm39) T99P possibly damaging Het
Dach1 A G 14: 98,068,777 (GRCm39) L601P probably damaging Het
Ddx11 T A 17: 66,455,734 (GRCm39) L711Q probably damaging Het
Dsg1a A T 18: 20,471,707 (GRCm39) N653I probably damaging Het
Fezf2 G T 14: 12,344,405 (GRCm38) P261T probably benign Het
Galnt5 T C 2: 57,914,735 (GRCm39) probably null Het
Gemin5 A G 11: 58,027,743 (GRCm39) L935P probably damaging Het
Gm9507 A T 10: 77,647,519 (GRCm39) C53* probably null Het
Irgm2 A G 11: 58,110,902 (GRCm39) I198V probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klf12 A C 14: 100,387,162 (GRCm39) probably null Het
Lpp C T 16: 24,480,451 (GRCm39) P73L probably damaging Het
Lrrc34 G A 3: 30,696,890 (GRCm39) H127Y probably benign Het
Lyar T C 5: 38,382,053 (GRCm39) S12P probably damaging Het
Maml3 A G 3: 52,011,473 (GRCm39) I31T unknown Het
Mei1 A G 15: 81,987,513 (GRCm39) N859S probably benign Het
Minar2 T A 18: 59,208,739 (GRCm39) M129K probably damaging Het
Mysm1 A T 4: 94,840,450 (GRCm39) N655K probably benign Het
Npnt T C 3: 132,653,893 (GRCm39) I29M probably benign Het
Nrxn1 A G 17: 91,395,746 (GRCm39) W137R probably benign Het
Numb C T 12: 83,844,118 (GRCm39) probably null Het
Obsl1 A G 1: 75,482,480 (GRCm39) F130S probably damaging Het
Or2h1 T G 17: 37,404,295 (GRCm39) Q157P probably damaging Het
Or4k47 T A 2: 111,451,586 (GRCm39) I278F probably benign Het
Pbx4 T C 8: 70,322,776 (GRCm39) V294A probably benign Het
Pde4dip A C 3: 97,664,312 (GRCm39) L524R possibly damaging Het
Plppr1 G A 4: 49,337,655 (GRCm39) A319T probably benign Het
Ppid A T 3: 79,500,925 (GRCm39) I32F probably damaging Het
Ppp4r3c1 A T X: 88,975,051 (GRCm39) V382E probably damaging Het
Prkcsh A G 9: 21,924,164 (GRCm39) D458G probably damaging Het
Prr27 A G 5: 87,991,261 (GRCm39) E291G probably benign Het
Psme4 A T 11: 30,782,615 (GRCm39) K923N possibly damaging Het
Rab25 T C 3: 88,450,765 (GRCm39) T45A probably damaging Het
Rapgef1 C T 2: 29,612,239 (GRCm39) P630S probably benign Het
Rel C T 11: 23,692,761 (GRCm39) G424D probably benign Het
Rtn4 A T 11: 29,658,634 (GRCm39) E929D probably benign Het
Samt3 A C X: 85,090,740 (GRCm39) M211L probably benign Het
Slk T G 19: 47,600,428 (GRCm39) I151S probably damaging Het
Spin1 T A 13: 51,298,506 (GRCm39) V175D probably damaging Het
Ssxb10 A G X: 8,197,258 (GRCm39) D77G probably benign Het
Ticam1 C T 17: 56,578,555 (GRCm39) R180H probably damaging Het
Tmem151b G C 17: 45,856,387 (GRCm39) P351R possibly damaging Het
Tmod1 A C 4: 46,061,043 (GRCm39) Y10S probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpm1 T C 7: 63,858,182 (GRCm39) Y225H possibly damaging Het
Ttc17 T C 2: 94,157,049 (GRCm39) N411S probably benign Het
Tyro3 A G 2: 119,639,298 (GRCm39) D335G probably benign Het
Unc79 C A 12: 102,977,538 (GRCm39) Y180* probably null Het
Upp1 A T 11: 9,084,872 (GRCm39) D197V possibly damaging Het
Vmn1r226 T A 17: 20,908,308 (GRCm39) M180K possibly damaging Het
Vtn T A 11: 78,392,724 (GRCm39) I434N probably damaging Het
Zfp329 T A 7: 12,545,395 (GRCm39) N43I probably benign Het
Zfp819 A G 7: 43,265,885 (GRCm39) T47A probably benign Het
Zyg11b G A 4: 108,123,127 (GRCm39) T280I probably damaging Het
Other mutations in Rasa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00426:Rasa2 APN 9 96,426,913 (GRCm39) missense probably damaging 1.00
IGL00661:Rasa2 APN 9 96,459,606 (GRCm39) splice site probably benign
IGL00825:Rasa2 APN 9 96,452,772 (GRCm39) missense probably benign 0.37
IGL01645:Rasa2 APN 9 96,464,834 (GRCm39) nonsense probably null
IGL02260:Rasa2 APN 9 96,426,372 (GRCm39) missense probably benign 0.08
IGL02568:Rasa2 APN 9 96,462,563 (GRCm39) missense probably damaging 1.00
IGL02963:Rasa2 APN 9 96,452,838 (GRCm39) missense probably damaging 1.00
R0018:Rasa2 UTSW 9 96,454,016 (GRCm39) missense probably damaging 1.00
R0018:Rasa2 UTSW 9 96,454,016 (GRCm39) missense probably damaging 1.00
R0144:Rasa2 UTSW 9 96,474,072 (GRCm39) missense probably damaging 0.99
R0238:Rasa2 UTSW 9 96,450,460 (GRCm39) missense probably damaging 1.00
R0238:Rasa2 UTSW 9 96,450,460 (GRCm39) missense probably damaging 1.00
R0295:Rasa2 UTSW 9 96,427,863 (GRCm39) splice site probably null
R0332:Rasa2 UTSW 9 96,488,229 (GRCm39) missense probably damaging 1.00
R0348:Rasa2 UTSW 9 96,454,012 (GRCm39) missense probably damaging 1.00
R0931:Rasa2 UTSW 9 96,434,457 (GRCm39) missense possibly damaging 0.88
R1067:Rasa2 UTSW 9 96,434,376 (GRCm39) missense probably damaging 1.00
R1485:Rasa2 UTSW 9 96,426,401 (GRCm39) missense probably benign 0.00
R1562:Rasa2 UTSW 9 96,427,803 (GRCm39) missense possibly damaging 0.89
R1698:Rasa2 UTSW 9 96,450,428 (GRCm39) missense possibly damaging 0.56
R3055:Rasa2 UTSW 9 96,493,526 (GRCm39) missense possibly damaging 0.77
R4175:Rasa2 UTSW 9 96,442,830 (GRCm39) missense probably benign 0.01
R4258:Rasa2 UTSW 9 96,439,433 (GRCm39) intron probably benign
R4432:Rasa2 UTSW 9 96,424,460 (GRCm39) unclassified probably benign
R4636:Rasa2 UTSW 9 96,426,390 (GRCm39) missense probably benign
R4773:Rasa2 UTSW 9 96,426,470 (GRCm39) missense probably benign
R4990:Rasa2 UTSW 9 96,474,042 (GRCm39) missense probably benign 0.24
R5177:Rasa2 UTSW 9 96,426,844 (GRCm39) nonsense probably null
R5462:Rasa2 UTSW 9 96,453,971 (GRCm39) missense probably damaging 1.00
R5737:Rasa2 UTSW 9 96,452,718 (GRCm39) critical splice donor site probably null
R5775:Rasa2 UTSW 9 96,459,521 (GRCm39) splice site probably null
R5866:Rasa2 UTSW 9 96,427,823 (GRCm39) missense probably benign 0.00
R5938:Rasa2 UTSW 9 96,493,442 (GRCm39) missense possibly damaging 0.50
R6076:Rasa2 UTSW 9 96,427,699 (GRCm39) missense probably benign
R6216:Rasa2 UTSW 9 96,426,357 (GRCm39) missense probably damaging 1.00
R6743:Rasa2 UTSW 9 96,493,493 (GRCm39) missense probably damaging 1.00
R6982:Rasa2 UTSW 9 96,442,803 (GRCm39) missense probably damaging 1.00
R7350:Rasa2 UTSW 9 96,426,408 (GRCm39) missense probably benign 0.16
R7405:Rasa2 UTSW 9 96,448,080 (GRCm39) missense probably benign 0.09
R7421:Rasa2 UTSW 9 96,493,500 (GRCm39) missense unknown
R7490:Rasa2 UTSW 9 96,448,175 (GRCm39) missense possibly damaging 0.48
R7515:Rasa2 UTSW 9 96,434,353 (GRCm39) splice site probably null
R7547:Rasa2 UTSW 9 96,493,474 (GRCm39) missense probably damaging 1.00
R7557:Rasa2 UTSW 9 96,439,478 (GRCm39) missense probably damaging 0.98
R7821:Rasa2 UTSW 9 96,462,537 (GRCm39) splice site probably null
R7894:Rasa2 UTSW 9 96,484,780 (GRCm39) missense probably benign 0.13
R8089:Rasa2 UTSW 9 96,435,177 (GRCm39) missense probably benign 0.00
R8193:Rasa2 UTSW 9 96,484,791 (GRCm39) missense probably damaging 0.97
R8827:Rasa2 UTSW 9 96,434,403 (GRCm39) missense probably damaging 1.00
R8847:Rasa2 UTSW 9 96,458,402 (GRCm39) missense possibly damaging 0.51
R9043:Rasa2 UTSW 9 96,484,770 (GRCm39) missense probably damaging 1.00
R9672:Rasa2 UTSW 9 96,427,781 (GRCm39) missense probably damaging 1.00
RF017:Rasa2 UTSW 9 96,513,521 (GRCm39) small insertion probably benign
RF029:Rasa2 UTSW 9 96,513,520 (GRCm39) small insertion probably benign
RF047:Rasa2 UTSW 9 96,513,520 (GRCm39) small insertion probably benign
Predicted Primers PCR Primer
(F):5'- AGCCGGATTCTGTTTGGTAAC -3'
(R):5'- CCTGAATACTGATGTGCTTCAAATC -3'

Sequencing Primer
(F):5'- CCGGATTCTGTTTGGTAACTCTAAG -3'
(R):5'- TGATGTGCTTCAAATCTTATCTCTG -3'
Posted On 2014-08-25