Incidental Mutation 'R4258:Rasa2'
ID 321907
Institutional Source Beutler Lab
Gene Symbol Rasa2
Ensembl Gene ENSMUSG00000032413
Gene Name RAS p21 protein activator 2
Synonyms GAP1m, 5430433H21Rik
MMRRC Submission 041071-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R4258 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 96421353-96513665 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 96439433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034984] [ENSMUST00000128346]
AlphaFold P58069
Predicted Effect probably benign
Transcript: ENSMUST00000034984
SMART Domains Protein: ENSMUSP00000034984
Gene: ENSMUSG00000032413

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: ENSMUST00000185435
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 95% (60/63)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415M13Rik T A 17: 54,031,441 (GRCm39) noncoding transcript Het
Ank3 T C 10: 69,840,592 (GRCm39) I984T probably benign Het
Arnt2 T C 7: 83,960,163 (GRCm39) T204A probably damaging Het
Arsi T C 18: 61,050,388 (GRCm39) W424R probably damaging Het
Aspg A T 12: 112,087,687 (GRCm39) N346I probably benign Het
Brdt A G 5: 107,507,775 (GRCm39) S668G probably damaging Het
Ccdc178 C T 18: 22,150,392 (GRCm39) probably null Het
Cfap58 A T 19: 47,937,923 (GRCm39) probably null Het
Chaf1a C A 17: 56,363,474 (GRCm39) H319Q unknown Het
Colec12 T C 18: 9,720,950 (GRCm39) S13P probably damaging Het
Cpne9 C T 6: 113,259,984 (GRCm39) probably benign Het
Cyp2c65 A C 19: 39,081,872 (GRCm39) D466A probably benign Het
Cyp3a25 T C 5: 145,928,248 (GRCm39) K266E probably damaging Het
Dennd1b G T 1: 138,990,678 (GRCm39) R214L probably damaging Het
Dock9 T C 14: 121,818,854 (GRCm39) I1533V probably benign Het
Dynlt1a C T 17: 6,361,184 (GRCm39) M102I probably benign Het
Edil3 G T 13: 89,325,272 (GRCm39) L220F probably damaging Het
Eml5 A G 12: 98,831,693 (GRCm39) Y383H probably benign Het
Epc1 T A 18: 6,450,130 (GRCm39) T393S probably benign Het
Fbxo8 A T 8: 57,041,076 (GRCm39) D164V probably benign Het
Gbp4 T A 5: 105,284,841 (GRCm39) N16I probably damaging Het
Gdf6 G A 4: 9,844,877 (GRCm39) V134I probably damaging Het
Gm5475 A G 15: 100,322,117 (GRCm39) probably benign Het
Gm6430 T G 1: 96,952,561 (GRCm39) noncoding transcript Het
Ighv9-4 A T 12: 114,263,765 (GRCm39) V56E probably damaging Het
Il3ra A T 14: 14,347,961 (GRCm38) N36Y probably damaging Het
Kif7 G T 7: 79,360,261 (GRCm39) C325* probably null Het
Lipo2 A T 19: 33,708,328 (GRCm39) F229I possibly damaging Het
Lrba A G 3: 86,352,656 (GRCm39) K1935E probably damaging Het
Mki67 A T 7: 135,297,017 (GRCm39) D2672E possibly damaging Het
Mtf1 A G 4: 124,732,576 (GRCm39) T545A probably benign Het
Mup6 A T 4: 60,004,812 (GRCm39) probably null Het
Myo9b T C 8: 71,808,409 (GRCm39) V1672A probably damaging Het
Nudt16l2 T C 9: 105,020,767 (GRCm39) I165V probably damaging Het
Or10al6 C A 17: 38,082,949 (GRCm39) P135Q probably damaging Het
Or10j5 C T 1: 172,785,205 (GRCm39) T281I possibly damaging Het
Or4k36 A T 2: 111,145,983 (GRCm39) H53L probably benign Het
Or5d37 T A 2: 87,923,362 (GRCm39) N306I probably damaging Het
Pcdhgb2 A T 18: 37,825,102 (GRCm39) I698F probably damaging Het
Pkn3 C T 2: 29,978,572 (GRCm39) H665Y probably damaging Het
Ppil6 T A 10: 41,383,531 (GRCm39) L99* probably null Het
Psg22 T A 7: 18,458,554 (GRCm39) V376E probably damaging Het
Pum1 G A 4: 130,457,591 (GRCm39) R201H probably damaging Het
Schip1 T A 3: 68,525,963 (GRCm39) M379K possibly damaging Het
Scn9a A T 2: 66,395,398 (GRCm39) probably benign Het
Sh3tc1 C T 5: 35,864,322 (GRCm39) A622T probably benign Het
Smarcd2 A T 11: 106,156,076 (GRCm39) I292N probably damaging Het
Ssxb17 C T X: 21,041,167 (GRCm39) S45N probably damaging Het
Stab1 G A 14: 30,876,629 (GRCm39) R862C possibly damaging Het
Tdrd5 T A 1: 156,087,312 (GRCm39) H870L probably benign Het
Tnfaip8 A G 18: 50,223,443 (GRCm39) R60G possibly damaging Het
Traf3ip3 C T 1: 192,880,254 (GRCm39) R25Q probably damaging Het
Unc5b T C 10: 60,601,150 (GRCm39) Y892C probably damaging Het
Vmn2r2 T G 3: 64,042,118 (GRCm39) D199A probably damaging Het
Washc2 C A 6: 116,185,202 (GRCm39) P12Q probably damaging Het
Zfp286 T C 11: 62,671,896 (GRCm39) I121V probably benign Het
Zfp606 T A 7: 12,228,267 (GRCm39) probably null 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
R1980:Rasa2 UTSW 9 96,452,821 (GRCm39) missense probably damaging 0.99
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
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'- AGACTTGCTTAATCTCACAGCTTT -3'
(R):5'- GCAGCAGAAACACCTCAGAG -3'

Sequencing Primer
(F):5'- GGCATCGGATCCCATTACAGATG -3'
(R):5'- ACACCTCAGAGTTGGACATGTTTG -3'
Posted On 2015-06-20