Incidental Mutation 'R1698:Rasa2'
ID 192421
Institutional Source Beutler Lab
Gene Symbol Rasa2
Ensembl Gene ENSMUSG00000032413
Gene Name RAS p21 protein activator 2
Synonyms GAP1m, 5430433H21Rik
MMRRC Submission 039731-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R1698 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 96539300-96631617 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96568375 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 490 (K490R)
Ref Sequence ENSEMBL: ENSMUSP00000034984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034984] [ENSMUST00000128346]
AlphaFold P58069
Predicted Effect possibly damaging
Transcript: ENSMUST00000034984
AA Change: K490R

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000034984
Gene: ENSMUSG00000032413
AA Change: K490R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190537
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A C 6: 121,645,158 E340A possibly damaging Het
Abca13 A G 11: 9,314,507 D2963G probably benign Het
Actn3 T C 19: 4,862,207 D783G possibly damaging Het
Adamtsl2 A G 2: 27,103,127 E723G possibly damaging Het
Agrn G T 4: 156,166,558 Q1931K probably benign Het
Ankrd27 G A 7: 35,614,521 A426T probably benign Het
Atg9b C A 5: 24,388,188 G406C probably damaging Het
BC005561 C T 5: 104,520,510 A966V probably benign Het
C1ra A T 6: 124,522,766 Q637L probably benign Het
Cdhr2 A T 13: 54,719,581 M438L probably benign Het
Cep350 T C 1: 155,953,358 I267V possibly damaging Het
Chrna5 A G 9: 55,004,642 Y138C probably damaging Het
Chst3 T A 10: 60,185,703 M441L probably benign Het
Cmya5 G A 13: 93,063,519 P3434S probably benign Het
Cog2 T A 8: 124,525,683 L42Q probably damaging Het
Cpq A T 15: 33,250,126 I210F probably benign Het
Crnn C A 3: 93,148,458 Q184K probably damaging Het
Csnka2ip A T 16: 64,478,059 Y647* probably null Het
D5Ertd579e C T 5: 36,604,530 R1331H probably benign Het
Dennd5a C T 7: 109,917,380 probably null Het
Dync1h1 A G 12: 110,626,992 Q1231R possibly damaging Het
Erbin T A 13: 103,833,731 I1126F possibly damaging Het
Fastkd1 T C 2: 69,702,469 D518G probably benign Het
Gcc1 A G 6: 28,421,111 L69P possibly damaging Het
Gkn1 T C 6: 87,347,169 Y119C probably damaging Het
Gmpr T G 13: 45,517,044 W81G probably benign Het
Gyg T A 3: 20,138,051 I236F probably benign Het
Hcrtr2 T C 9: 76,246,453 Y219C probably damaging Het
Hmcn1 G A 1: 150,565,369 Q5379* probably null Het
Kank1 T C 19: 25,411,317 C785R probably benign Het
Lrp1b A T 2: 40,851,806 C3036* probably null Het
Mdga2 T C 12: 66,689,335 D373G probably damaging Het
Mgat2 A T 12: 69,185,719 I356F probably benign Het
Miga2 A G 2: 30,377,997 D346G probably damaging Het
Mprip T A 11: 59,760,258 L1596Q possibly damaging Het
Mroh2b G A 15: 4,914,140 R386Q probably benign Het
Mst1r T A 9: 107,919,980 S1349R probably benign Het
Mtmr3 C T 11: 4,492,825 R403H possibly damaging Het
Mycbpap G A 11: 94,508,143 Q460* probably null Het
Myo9a T C 9: 59,868,181 V1025A probably benign Het
Ncapd2 C T 6: 125,168,590 E1365K probably null Het
Nkiras2 C A 11: 100,625,163 D105E probably damaging Het
Nolc1 T G 19: 46,081,431 probably null Het
Nos1 T C 5: 117,867,232 F6L probably benign Het
Olfr1112 G T 2: 87,191,737 V17L probably benign Het
Olfr1278 T A 2: 111,292,560 C97* probably null Het
Olfr1369-ps1 C T 13: 21,116,565 T291I probably benign Het
Olfr218 A T 1: 173,203,371 N5I probably damaging Het
Olfr325 T C 11: 58,581,251 Y136H probably damaging Het
Olfr910 T A 9: 38,539,256 Y120* probably null Het
Pfkm A G 15: 98,128,318 E598G possibly damaging Het
Phf2 A T 13: 48,807,630 D861E unknown Het
Polr2a A G 11: 69,739,877 probably null Het
Popdc2 G A 16: 38,369,491 V167M probably damaging Het
Ptpn22 T C 3: 103,885,798 S422P probably benign Het
Rbfox3 T A 11: 118,495,221 D286V probably damaging Het
Rdh13 A G 7: 4,427,791 W223R probably damaging Het
Riok3 T C 18: 12,128,929 S7P probably benign Het
Rnaseh2b A G 14: 62,353,632 E144G probably benign Het
Rnf20 C T 4: 49,651,498 Q655* probably null Het
Rpap2 T C 5: 107,603,550 Y8H probably damaging Het
Slc5a10 T C 11: 61,709,602 Y181C probably benign Het
Snd1 G T 6: 28,888,253 G896* probably null Het
Spast C T 17: 74,356,160 Q158* probably null Het
Tas2r104 G A 6: 131,685,584 S54F probably damaging Het
Tcaf2 C T 6: 42,628,017 W611* probably null Het
Timp4 G A 6: 115,250,403 probably null Het
Tmem45a G A 16: 56,823,570 S72L probably benign Het
Tnrc18 T C 5: 142,788,703 T124A possibly damaging Het
Tns2 C T 15: 102,108,934 R281C probably damaging Het
Ttn T C 2: 76,942,915 D2381G probably damaging Het
Uevld T C 7: 46,955,624 T41A possibly damaging Het
Ugcg C T 4: 59,207,798 P46S probably benign Het
Unc5d T C 8: 28,696,478 E527G probably damaging Het
Vmn2r125 C T 4: 156,351,038 T237I probably benign Het
Vmn2r63 A C 7: 42,933,614 I59S probably benign Het
Vps72 G A 3: 95,118,695 S106N probably benign Het
Zan A C 5: 137,409,669 probably benign Het
Zbtb38 T C 9: 96,685,462 K1190E probably benign Het
Zc3h6 T C 2: 129,017,358 V1103A probably benign Het
Zfp407 G A 18: 84,562,157 T277I probably damaging Het
Zfp804b A G 5: 6,769,509 S1149P probably damaging Het
Other mutations in Rasa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00426:Rasa2 APN 9 96,544,860 (GRCm38) missense probably damaging 1.00
IGL00661:Rasa2 APN 9 96,577,553 (GRCm38) splice site probably benign
IGL00825:Rasa2 APN 9 96,570,719 (GRCm38) missense probably benign 0.37
IGL01645:Rasa2 APN 9 96,582,781 (GRCm38) nonsense probably null
IGL02260:Rasa2 APN 9 96,544,319 (GRCm38) missense probably benign 0.08
IGL02568:Rasa2 APN 9 96,580,510 (GRCm38) missense probably damaging 1.00
IGL02963:Rasa2 APN 9 96,570,785 (GRCm38) missense probably damaging 1.00
R0018:Rasa2 UTSW 9 96,571,963 (GRCm38) missense probably damaging 1.00
R0018:Rasa2 UTSW 9 96,571,963 (GRCm38) missense probably damaging 1.00
R0144:Rasa2 UTSW 9 96,592,019 (GRCm38) missense probably damaging 0.99
R0238:Rasa2 UTSW 9 96,568,407 (GRCm38) missense probably damaging 1.00
R0238:Rasa2 UTSW 9 96,568,407 (GRCm38) missense probably damaging 1.00
R0295:Rasa2 UTSW 9 96,545,810 (GRCm38) splice site probably null
R0332:Rasa2 UTSW 9 96,606,176 (GRCm38) missense probably damaging 1.00
R0348:Rasa2 UTSW 9 96,571,959 (GRCm38) missense probably damaging 1.00
R0931:Rasa2 UTSW 9 96,552,404 (GRCm38) missense possibly damaging 0.88
R1067:Rasa2 UTSW 9 96,552,323 (GRCm38) missense probably damaging 1.00
R1485:Rasa2 UTSW 9 96,544,348 (GRCm38) missense probably benign 0.00
R1562:Rasa2 UTSW 9 96,545,750 (GRCm38) missense possibly damaging 0.89
R1980:Rasa2 UTSW 9 96,570,768 (GRCm38) missense probably damaging 0.99
R3055:Rasa2 UTSW 9 96,611,473 (GRCm38) missense possibly damaging 0.77
R4175:Rasa2 UTSW 9 96,560,777 (GRCm38) missense probably benign 0.01
R4258:Rasa2 UTSW 9 96,557,380 (GRCm38) intron probably benign
R4432:Rasa2 UTSW 9 96,542,407 (GRCm38) unclassified probably benign
R4636:Rasa2 UTSW 9 96,544,337 (GRCm38) missense probably benign
R4773:Rasa2 UTSW 9 96,544,417 (GRCm38) missense probably benign
R4990:Rasa2 UTSW 9 96,591,989 (GRCm38) missense probably benign 0.24
R5177:Rasa2 UTSW 9 96,544,791 (GRCm38) nonsense probably null
R5462:Rasa2 UTSW 9 96,571,918 (GRCm38) missense probably damaging 1.00
R5737:Rasa2 UTSW 9 96,570,665 (GRCm38) critical splice donor site probably null
R5775:Rasa2 UTSW 9 96,577,468 (GRCm38) splice site probably null
R5866:Rasa2 UTSW 9 96,545,770 (GRCm38) missense probably benign 0.00
R5938:Rasa2 UTSW 9 96,611,389 (GRCm38) missense possibly damaging 0.50
R6076:Rasa2 UTSW 9 96,545,646 (GRCm38) missense probably benign
R6216:Rasa2 UTSW 9 96,544,304 (GRCm38) missense probably damaging 1.00
R6743:Rasa2 UTSW 9 96,611,440 (GRCm38) missense probably damaging 1.00
R6982:Rasa2 UTSW 9 96,560,750 (GRCm38) missense probably damaging 1.00
R7350:Rasa2 UTSW 9 96,544,355 (GRCm38) missense probably benign 0.16
R7405:Rasa2 UTSW 9 96,566,027 (GRCm38) missense probably benign 0.09
R7421:Rasa2 UTSW 9 96,611,447 (GRCm38) missense unknown
R7490:Rasa2 UTSW 9 96,566,122 (GRCm38) missense possibly damaging 0.48
R7515:Rasa2 UTSW 9 96,552,300 (GRCm38) splice site probably null
R7547:Rasa2 UTSW 9 96,611,421 (GRCm38) missense probably damaging 1.00
R7557:Rasa2 UTSW 9 96,557,425 (GRCm38) missense probably damaging 0.98
R7821:Rasa2 UTSW 9 96,580,484 (GRCm38) splice site probably null
R7894:Rasa2 UTSW 9 96,602,727 (GRCm38) missense probably benign 0.13
R8089:Rasa2 UTSW 9 96,553,124 (GRCm38) missense probably benign 0.00
R8193:Rasa2 UTSW 9 96,602,738 (GRCm38) missense probably damaging 0.97
R8827:Rasa2 UTSW 9 96,552,350 (GRCm38) missense probably damaging 1.00
R8847:Rasa2 UTSW 9 96,576,349 (GRCm38) missense possibly damaging 0.51
R9043:Rasa2 UTSW 9 96,602,717 (GRCm38) missense probably damaging 1.00
R9672:Rasa2 UTSW 9 96,545,728 (GRCm38) missense probably damaging 1.00
RF017:Rasa2 UTSW 9 96,631,468 (GRCm38) small insertion probably benign
RF029:Rasa2 UTSW 9 96,631,467 (GRCm38) small insertion probably benign
RF047:Rasa2 UTSW 9 96,631,467 (GRCm38) small insertion probably benign
Predicted Primers PCR Primer
(F):5'- GCAAGATCATCCTATGGATTGTGGGAC -3'
(R):5'- CCTTTAACCTGAGTTGGGACTAGAAGC -3'

Sequencing Primer
(F):5'- ATAGCTGGTACACACGGGTTTATTC -3'
(R):5'- TGTTCTCATGAAGATATTGAAGCTG -3'
Posted On 2014-05-14