Incidental Mutation 'R6743:Rasa2'
ID 532744
Institutional Source Beutler Lab
Gene Symbol Rasa2
Ensembl Gene ENSMUSG00000032413
Gene Name RAS p21 protein activator 2
Synonyms GAP1m, 5430433H21Rik
MMRRC Submission 044860-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R6743 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 96421353-96513665 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96493493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 64 (T64A)
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: T64A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034984
Gene: ENSMUSG00000032413
AA Change: T64A

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 silent
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
Meta Mutation Damage Score 0.1578 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 100% (39/39)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 C T 17: 31,327,321 (GRCm39) R339C possibly damaging Het
Adamts6 G A 13: 104,565,436 (GRCm39) G721R probably damaging Het
Adnp2 A G 18: 80,171,274 (GRCm39) V1045A probably benign Het
Agbl3 T C 6: 34,823,888 (GRCm39) I856T probably benign Het
Anapc1 T A 2: 128,526,454 (GRCm39) K115* probably null Het
Arc A G 15: 74,543,636 (GRCm39) S196P probably benign Het
Atp10a T C 7: 58,447,562 (GRCm39) I768T possibly damaging Het
Blk C T 14: 63,622,375 (GRCm39) R55H probably benign Het
Ccdc158 T C 5: 92,810,005 (GRCm39) S168G probably benign Het
Cda G T 4: 138,066,253 (GRCm39) T128K probably benign Het
Celsr1 T A 15: 85,791,799 (GRCm39) T2601S probably damaging Het
Dmxl1 T C 18: 50,013,847 (GRCm39) V1545A possibly damaging Het
Dst T A 1: 34,309,971 (GRCm39) N6264K probably damaging Het
Ednra T C 8: 78,401,718 (GRCm39) S191G probably damaging Het
Elk3 A T 10: 93,100,912 (GRCm39) S280T possibly damaging Het
Etnk1 A G 6: 143,126,343 (GRCm39) I63V possibly damaging Het
Fscb A G 12: 64,518,347 (GRCm39) S1040P unknown Het
Gm14295 T G 2: 176,502,420 (GRCm39) C637G probably damaging Het
Gm5114 T C 7: 39,057,997 (GRCm39) T541A probably benign Het
Man2c1 T C 9: 57,042,849 (GRCm39) F240L probably benign Het
Map2 A T 1: 66,454,766 (GRCm39) I1219L probably benign Het
Map3k13 A G 16: 21,711,173 (GRCm39) Y152C probably damaging Het
Morc1 G A 16: 48,322,683 (GRCm39) A327T probably damaging Het
Myo3a A T 2: 22,366,475 (GRCm39) Y553F probably benign Het
Myo9b T A 8: 71,804,803 (GRCm39) probably null Het
Or14j1 A C 17: 38,146,694 (GRCm39) D268A probably damaging Het
Or5b3 C T 19: 13,387,957 (GRCm39) T8I probably damaging Het
Pam A G 1: 97,823,774 (GRCm39) V219A probably benign Het
Panx1 A G 9: 14,918,929 (GRCm39) I310T possibly damaging Het
Pde6a T A 18: 61,397,057 (GRCm39) F634L possibly damaging Het
Pkd1l2 C A 8: 117,757,370 (GRCm39) C1556F probably damaging Het
Prdm5 G A 6: 65,860,635 (GRCm39) V440I probably damaging Het
Sec24b A T 3: 129,834,881 (GRCm39) Y106N probably damaging Het
Sfswap C T 5: 129,627,883 (GRCm39) Q689* probably null Het
Slamf8 C T 1: 172,417,965 (GRCm39) probably null Het
Tektl1 G A 10: 78,588,726 (GRCm39) T28M probably benign Het
Tmt1a3 A G 15: 100,233,123 (GRCm39) K105E probably benign Het
Tsr1 T C 11: 74,799,177 (GRCm39) V786A probably benign Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zmynd10 T C 9: 107,425,079 (GRCm39) I58T possibly 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
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
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
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'- ACTGGGGTCACTCTTAGAGAC -3'
(R):5'- GACCTCTCTGAGCACAAGTTG -3'

Sequencing Primer
(F):5'- CAGCCTACTTAGGAGGTGTGAACTTC -3'
(R):5'- GCCTTCTTCCAGACTGAA -3'
Posted On 2018-08-29