Incidental Mutation 'R4627:Ralgapa2'
ID 348836
Institutional Source Beutler Lab
Gene Symbol Ralgapa2
Ensembl Gene ENSMUSG00000037110
Gene Name Ral GTPase activating protein, alpha subunit 2 (catalytic)
Synonyms AS250, A230067G21Rik, RGC2
MMRRC Submission 041892-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # R4627 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 146081799-146354264 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 146203373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1159 (S1159P)
Ref Sequence ENSEMBL: ENSMUSP00000153734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109986] [ENSMUST00000131824] [ENSMUST00000228797]
AlphaFold A3KGS3
Predicted Effect possibly damaging
Transcript: ENSMUST00000109986
AA Change: S1112P

PolyPhen 2 Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000105613
Gene: ENSMUSG00000037110
AA Change: S1112P

DomainStartEndE-ValueType
low complexity region 469 480 N/A INTRINSIC
low complexity region 1017 1028 N/A INTRINSIC
low complexity region 1296 1301 N/A INTRINSIC
Pfam:Rap_GAP 1701 1877 6.8e-48 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000131824
AA Change: S1074P

PolyPhen 2 Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000122039
Gene: ENSMUSG00000037110
AA Change: S1074P

DomainStartEndE-ValueType
low complexity region 469 480 N/A INTRINSIC
low complexity region 979 990 N/A INTRINSIC
low complexity region 1258 1263 N/A INTRINSIC
Pfam:Rap_GAP 1663 1842 1.3e-66 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000146307
AA Change: S100P
SMART Domains Protein: ENSMUSP00000114547
Gene: ENSMUSG00000037110
AA Change: S100P

DomainStartEndE-ValueType
low complexity region 6 17 N/A INTRINSIC
low complexity region 285 290 N/A INTRINSIC
Pfam:Rap_GAP 690 830 4.9e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148784
Predicted Effect unknown
Transcript: ENSMUST00000149499
AA Change: S744P
SMART Domains Protein: ENSMUSP00000122017
Gene: ENSMUSG00000037110
AA Change: S744P

DomainStartEndE-ValueType
low complexity region 140 151 N/A INTRINSIC
low complexity region 650 661 N/A INTRINSIC
low complexity region 929 934 N/A INTRINSIC
Pfam:Rap_GAP 1334 1511 2.4e-48 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000228797
AA Change: S1159P

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased incidence and severity of induced urothelial bladder tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6a A T 12: 113,508,569 (GRCm39) D314V probably benign Het
Adamts18 C T 8: 114,499,800 (GRCm39) W371* probably null Het
Adamtsl2 T A 2: 26,983,597 (GRCm39) L331Q probably damaging Het
Akr1c13 G T 13: 4,247,869 (GRCm39) V214F probably damaging Het
Aldoart1 T C 4: 72,770,680 (GRCm39) T43A probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Ano7 T C 1: 93,302,907 (GRCm39) I15T probably benign Het
Aopep T C 13: 63,215,906 (GRCm39) S393P probably benign Het
Aox3 A T 1: 58,164,194 (GRCm39) T155S probably damaging Het
Ap2a1 C T 7: 44,553,843 (GRCm39) V535M probably damaging Het
Apbb2 C T 5: 66,557,419 (GRCm39) probably null Het
Astn1 C A 1: 158,329,821 (GRCm39) H225Q possibly damaging Het
Atm A G 9: 53,367,806 (GRCm39) I2439T possibly damaging Het
Atp1b2 T A 11: 69,492,160 (GRCm39) I263F probably damaging Het
Ccdc184 A T 15: 98,066,638 (GRCm39) N148Y probably benign Het
Cdca7 TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA 2: 72,312,205 (GRCm39) probably benign Het
Cep192 C G 18: 67,945,440 (GRCm39) P180R probably benign Het
Cfap46 T C 7: 139,237,197 (GRCm39) Y571C probably damaging Het
Cfap46 A T 7: 139,260,843 (GRCm39) L85Q probably damaging Het
Chchd6 G A 6: 89,361,642 (GRCm39) L226F probably damaging Het
Cnot6l A G 5: 96,225,070 (GRCm39) V541A probably benign Het
Cobl T C 11: 12,201,093 (GRCm39) E1214G probably damaging Het
Cpsf2 G A 12: 101,956,154 (GRCm39) R319Q probably benign Het
Csdc2 T C 15: 81,833,324 (GRCm39) V107A probably benign Het
Csmd1 A G 8: 16,747,933 (GRCm39) W273R probably benign Het
Dnah2 T A 11: 69,356,202 (GRCm39) N2156I probably damaging Het
Dsp A G 13: 38,352,617 (GRCm39) Y165C probably benign Het
Exoc1 T C 5: 76,690,075 (GRCm39) V205A probably benign Het
Fam98c T C 7: 28,854,693 (GRCm39) T49A possibly damaging Het
Fbln2 G T 6: 91,236,749 (GRCm39) V755L probably damaging Het
Fhad1 A T 4: 141,623,779 (GRCm39) V1371D possibly damaging Het
Folh1 A T 7: 86,422,460 (GRCm39) M59K probably benign Het
Foxf2 A T 13: 31,810,871 (GRCm39) H270L probably benign Het
Gm14401 G A 2: 176,778,109 (GRCm39) R65H probably benign Het
Gpn1 C A 5: 31,655,737 (GRCm39) Y592* probably null Het
Hmcn1 T G 1: 150,471,645 (GRCm39) D4903A probably benign Het
Hnf1a T C 5: 115,093,930 (GRCm39) R220G probably damaging Het
Hoxd10 G A 2: 74,522,636 (GRCm39) A105T probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kidins220 C T 12: 25,107,041 (GRCm39) T1498I possibly damaging Het
Klhl2 G T 8: 65,211,225 (GRCm39) Y274* probably null Het
Lmbrd1 A G 1: 24,745,080 (GRCm39) Y140C probably damaging Het
Mapk8ip3 G A 17: 25,122,267 (GRCm39) T706I probably benign Het
Mast4 A C 13: 103,470,529 (GRCm39) S58A possibly damaging Het
Mcm6 T C 1: 128,279,285 (GRCm39) D167G probably benign Het
Mmachc A T 4: 116,560,668 (GRCm39) S276T probably damaging Het
Nfat5 A T 8: 108,095,908 (GRCm39) Q1289L probably damaging Het
Nlrc4 G T 17: 74,753,623 (GRCm39) F253L probably damaging Het
Nr1i3 C A 1: 171,044,014 (GRCm39) A112E probably benign Het
Or10ac1 T A 6: 42,515,375 (GRCm39) T194S possibly damaging Het
Or13a17 T A 7: 140,271,291 (GRCm39) S158T probably benign Het
Or2b28 T C 13: 21,531,634 (GRCm39) F179L probably damaging Het
Or7g33 G T 9: 19,448,969 (GRCm39) Q86K possibly damaging Het
Orc5 G T 5: 22,753,003 (GRCm39) F10L probably benign Het
Pde10a A C 17: 9,200,484 (GRCm39) D779A probably damaging Het
Pde4b T C 4: 102,458,802 (GRCm39) L486S probably damaging Het
Pex2 A T 3: 5,626,341 (GRCm39) I156N probably damaging Het
Phtf2 C T 5: 20,978,738 (GRCm39) R63Q probably damaging Het
Prag1 A G 8: 36,570,446 (GRCm39) Y343C probably damaging Het
Prdm16 A T 4: 154,451,697 (GRCm39) Y170N probably damaging Het
Prpf6 A C 2: 181,243,267 (GRCm39) K5T probably damaging Het
Ptpn1 A G 2: 167,809,701 (GRCm39) K103R probably benign Het
Rapgef3 G T 15: 97,656,810 (GRCm39) D318E probably damaging Het
Ripk4 A T 16: 97,545,226 (GRCm39) S474T probably damaging Het
Rmi1 A G 13: 58,556,950 (GRCm39) R400G probably benign Het
Sec16a A G 2: 26,319,405 (GRCm39) V1491A probably damaging Het
Sec16a C T 2: 26,321,080 (GRCm39) probably null Het
Setd7 G T 3: 51,450,086 (GRCm39) N113K probably damaging Het
Shank2 C T 7: 143,965,161 (GRCm39) T1502M probably damaging Het
Skor1 A T 9: 63,052,758 (GRCm39) C376S probably damaging Het
Slc12a3 A T 8: 95,056,012 (GRCm39) L49F probably benign Het
Slc35d3 C T 10: 19,725,077 (GRCm39) V260M probably damaging Het
Slc46a1 T A 11: 78,357,715 (GRCm39) V256E probably benign Het
Slc6a1 T C 6: 114,285,067 (GRCm39) S127P probably benign Het
Syngr4 A G 7: 45,536,452 (GRCm39) L190P probably damaging Het
Tagap G A 17: 8,145,773 (GRCm39) probably null Het
Tamm41 A T 6: 115,011,963 (GRCm39) N89K probably benign Het
Tbc1d31 T A 15: 57,831,308 (GRCm39) M922K probably benign Het
Tbk1 T C 10: 121,403,985 (GRCm39) N254S possibly damaging Het
Tfec A G 6: 16,840,478 (GRCm39) S140P probably damaging Het
Tnrc18 T C 5: 142,725,883 (GRCm39) E1802G unknown Het
Tom1l2 C T 11: 60,133,533 (GRCm39) probably null Het
Tonsl T G 15: 76,521,424 (GRCm39) K323Q probably damaging Het
Tsnaxip1 A T 8: 106,568,039 (GRCm39) E268D probably damaging Het
Ttf1 C A 2: 28,955,172 (GRCm39) H179N possibly damaging Het
Ttn T C 2: 76,556,517 (GRCm39) S30163G probably damaging Het
Ube2c A G 2: 164,614,093 (GRCm39) N143S possibly damaging Het
Ugt1a10 G A 1: 88,146,112 (GRCm39) R519Q probably damaging Het
Utp25 T C 1: 192,790,003 (GRCm39) T719A probably benign Het
Vmn2r9 T C 5: 108,995,463 (GRCm39) Y395C probably damaging Het
Vwa8 G A 14: 79,341,137 (GRCm39) probably null Het
Zfp9 A G 6: 118,441,937 (GRCm39) Y242H probably damaging Het
Other mutations in Ralgapa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00666:Ralgapa2 APN 2 146,327,056 (GRCm39) missense possibly damaging 0.61
IGL00915:Ralgapa2 APN 2 146,184,442 (GRCm39) missense probably damaging 1.00
IGL01012:Ralgapa2 APN 2 146,263,659 (GRCm39) missense possibly damaging 0.95
IGL01018:Ralgapa2 APN 2 146,252,112 (GRCm39) missense probably benign 0.00
IGL01018:Ralgapa2 APN 2 146,252,113 (GRCm39) missense probably benign 0.02
IGL01902:Ralgapa2 APN 2 146,156,934 (GRCm39) missense probably damaging 1.00
IGL02160:Ralgapa2 APN 2 146,190,360 (GRCm39) splice site probably benign
IGL02321:Ralgapa2 APN 2 146,254,736 (GRCm39) nonsense probably null
IGL02412:Ralgapa2 APN 2 146,254,052 (GRCm39) missense probably damaging 0.96
IGL03026:Ralgapa2 APN 2 146,302,695 (GRCm39) splice site probably benign
IGL03115:Ralgapa2 APN 2 146,266,734 (GRCm39) missense probably damaging 0.99
IGL03256:Ralgapa2 APN 2 146,302,632 (GRCm39) critical splice donor site probably null
IGL03379:Ralgapa2 APN 2 146,199,907 (GRCm39) missense probably benign 0.01
Chow UTSW 2 146,188,638 (GRCm39) nonsense probably null
purina UTSW 2 146,175,406 (GRCm39) missense probably damaging 1.00
P4748:Ralgapa2 UTSW 2 146,188,731 (GRCm39) nonsense probably null
R0012:Ralgapa2 UTSW 2 146,254,672 (GRCm39) missense probably benign
R0012:Ralgapa2 UTSW 2 146,254,672 (GRCm39) missense probably benign
R0165:Ralgapa2 UTSW 2 146,230,407 (GRCm39) splice site probably benign
R0344:Ralgapa2 UTSW 2 146,188,714 (GRCm39) missense possibly damaging 0.69
R0402:Ralgapa2 UTSW 2 146,276,729 (GRCm39) missense probably damaging 0.98
R0419:Ralgapa2 UTSW 2 146,270,592 (GRCm39) missense possibly damaging 0.69
R0638:Ralgapa2 UTSW 2 146,184,112 (GRCm39) missense probably benign 0.00
R0704:Ralgapa2 UTSW 2 146,293,704 (GRCm39) missense probably damaging 1.00
R0722:Ralgapa2 UTSW 2 146,230,451 (GRCm39) missense probably damaging 1.00
R0866:Ralgapa2 UTSW 2 146,277,923 (GRCm39) missense probably damaging 1.00
R1065:Ralgapa2 UTSW 2 146,292,478 (GRCm39) missense probably benign 0.00
R1212:Ralgapa2 UTSW 2 146,199,902 (GRCm39) missense probably benign 0.00
R1395:Ralgapa2 UTSW 2 146,230,420 (GRCm39) missense probably damaging 1.00
R1614:Ralgapa2 UTSW 2 146,230,532 (GRCm39) missense probably damaging 1.00
R1686:Ralgapa2 UTSW 2 146,199,920 (GRCm39) missense probably benign 0.09
R1799:Ralgapa2 UTSW 2 146,184,648 (GRCm39) missense probably benign 0.02
R1905:Ralgapa2 UTSW 2 146,229,621 (GRCm39) missense probably damaging 1.00
R1956:Ralgapa2 UTSW 2 146,302,679 (GRCm39) missense probably benign 0.00
R2144:Ralgapa2 UTSW 2 146,230,524 (GRCm39) missense probably damaging 1.00
R2148:Ralgapa2 UTSW 2 146,273,807 (GRCm39) missense probably benign 0.02
R2219:Ralgapa2 UTSW 2 146,263,599 (GRCm39) missense probably benign 0.09
R2220:Ralgapa2 UTSW 2 146,263,599 (GRCm39) missense probably benign 0.09
R2261:Ralgapa2 UTSW 2 146,184,603 (GRCm39) missense probably damaging 1.00
R2402:Ralgapa2 UTSW 2 146,195,112 (GRCm39) missense probably damaging 1.00
R2495:Ralgapa2 UTSW 2 146,203,320 (GRCm39) missense possibly damaging 0.82
R3752:Ralgapa2 UTSW 2 146,263,551 (GRCm39) missense possibly damaging 0.94
R3953:Ralgapa2 UTSW 2 146,277,884 (GRCm39) missense probably damaging 1.00
R3956:Ralgapa2 UTSW 2 146,277,884 (GRCm39) missense probably damaging 1.00
R4177:Ralgapa2 UTSW 2 146,327,083 (GRCm39) missense probably damaging 1.00
R4182:Ralgapa2 UTSW 2 146,277,914 (GRCm39) missense probably damaging 1.00
R4193:Ralgapa2 UTSW 2 146,184,493 (GRCm39) missense probably damaging 1.00
R4332:Ralgapa2 UTSW 2 146,102,288 (GRCm39) missense probably benign 0.10
R4507:Ralgapa2 UTSW 2 146,195,168 (GRCm39) missense probably benign 0.11
R4574:Ralgapa2 UTSW 2 146,277,919 (GRCm39) missense probably damaging 1.00
R4585:Ralgapa2 UTSW 2 146,156,944 (GRCm39) missense probably damaging 0.99
R4647:Ralgapa2 UTSW 2 146,229,549 (GRCm39) missense possibly damaging 0.69
R4677:Ralgapa2 UTSW 2 146,187,387 (GRCm39) missense possibly damaging 0.82
R4724:Ralgapa2 UTSW 2 146,187,453 (GRCm39) missense possibly damaging 0.46
R4760:Ralgapa2 UTSW 2 146,188,669 (GRCm39) missense probably benign 0.00
R4831:Ralgapa2 UTSW 2 146,246,987 (GRCm39) intron probably benign
R4962:Ralgapa2 UTSW 2 146,276,754 (GRCm39) nonsense probably null
R4993:Ralgapa2 UTSW 2 146,289,231 (GRCm39) missense probably damaging 1.00
R5041:Ralgapa2 UTSW 2 146,327,071 (GRCm39) missense probably benign 0.00
R5120:Ralgapa2 UTSW 2 146,254,004 (GRCm39) missense probably benign 0.26
R5185:Ralgapa2 UTSW 2 146,230,406 (GRCm39) splice site probably null
R5393:Ralgapa2 UTSW 2 146,187,375 (GRCm39) missense probably damaging 1.00
R5428:Ralgapa2 UTSW 2 146,176,414 (GRCm39) missense probably damaging 0.96
R5439:Ralgapa2 UTSW 2 146,184,430 (GRCm39) missense probably benign 0.08
R5476:Ralgapa2 UTSW 2 146,289,356 (GRCm39) missense probably benign
R5695:Ralgapa2 UTSW 2 146,175,397 (GRCm39) missense probably damaging 1.00
R5705:Ralgapa2 UTSW 2 146,291,193 (GRCm39) missense probably damaging 1.00
R5718:Ralgapa2 UTSW 2 146,295,326 (GRCm39) splice site probably null
R5817:Ralgapa2 UTSW 2 146,175,406 (GRCm39) missense probably damaging 1.00
R5877:Ralgapa2 UTSW 2 146,230,489 (GRCm39) missense probably damaging 1.00
R5994:Ralgapa2 UTSW 2 146,203,373 (GRCm39) missense probably benign 0.00
R6048:Ralgapa2 UTSW 2 146,276,765 (GRCm39) missense possibly damaging 0.46
R6158:Ralgapa2 UTSW 2 146,266,596 (GRCm39) missense possibly damaging 0.69
R6169:Ralgapa2 UTSW 2 146,292,385 (GRCm39) missense probably damaging 1.00
R6280:Ralgapa2 UTSW 2 146,184,129 (GRCm39) missense probably damaging 1.00
R6301:Ralgapa2 UTSW 2 146,169,331 (GRCm39) missense possibly damaging 0.94
R6650:Ralgapa2 UTSW 2 146,230,422 (GRCm39) missense probably damaging 1.00
R6959:Ralgapa2 UTSW 2 146,184,621 (GRCm39) missense probably damaging 0.98
R7020:Ralgapa2 UTSW 2 146,188,638 (GRCm39) nonsense probably null
R7035:Ralgapa2 UTSW 2 146,353,777 (GRCm39) missense probably damaging 1.00
R7167:Ralgapa2 UTSW 2 146,190,374 (GRCm39) missense probably benign
R7186:Ralgapa2 UTSW 2 146,230,406 (GRCm39) splice site probably null
R7252:Ralgapa2 UTSW 2 146,184,671 (GRCm39) critical splice acceptor site probably null
R7266:Ralgapa2 UTSW 2 146,176,488 (GRCm39) missense probably damaging 1.00
R7371:Ralgapa2 UTSW 2 146,189,046 (GRCm39) missense probably benign 0.05
R7432:Ralgapa2 UTSW 2 146,276,776 (GRCm39) missense probably benign 0.41
R7470:Ralgapa2 UTSW 2 146,266,587 (GRCm39) missense probably damaging 1.00
R7663:Ralgapa2 UTSW 2 146,260,335 (GRCm39) missense probably benign 0.01
R7780:Ralgapa2 UTSW 2 146,184,334 (GRCm39) missense probably benign 0.14
R7973:Ralgapa2 UTSW 2 146,230,481 (GRCm39) missense possibly damaging 0.88
R8018:Ralgapa2 UTSW 2 146,182,311 (GRCm39) missense probably damaging 1.00
R8063:Ralgapa2 UTSW 2 146,285,775 (GRCm39) missense probably damaging 1.00
R8070:Ralgapa2 UTSW 2 146,195,199 (GRCm39) missense probably damaging 0.98
R8264:Ralgapa2 UTSW 2 146,175,370 (GRCm39) missense possibly damaging 0.90
R8309:Ralgapa2 UTSW 2 146,246,786 (GRCm39) missense possibly damaging 0.66
R8409:Ralgapa2 UTSW 2 146,086,897 (GRCm39) missense
R8474:Ralgapa2 UTSW 2 146,266,750 (GRCm39) missense probably damaging 1.00
R8487:Ralgapa2 UTSW 2 146,230,463 (GRCm39) missense probably damaging 1.00
R8492:Ralgapa2 UTSW 2 146,184,524 (GRCm39) missense possibly damaging 0.50
R8733:Ralgapa2 UTSW 2 146,266,683 (GRCm39) missense probably damaging 1.00
R8856:Ralgapa2 UTSW 2 146,184,139 (GRCm39) missense probably benign 0.30
R8858:Ralgapa2 UTSW 2 146,102,285 (GRCm39) critical splice donor site probably null
R8862:Ralgapa2 UTSW 2 146,266,731 (GRCm39) missense probably benign 0.41
R9146:Ralgapa2 UTSW 2 146,184,252 (GRCm39) missense probably benign
R9324:Ralgapa2 UTSW 2 146,302,645 (GRCm39) missense probably damaging 1.00
R9439:Ralgapa2 UTSW 2 146,254,058 (GRCm39) missense probably benign
R9457:Ralgapa2 UTSW 2 146,176,474 (GRCm39) missense probably damaging 0.99
RF019:Ralgapa2 UTSW 2 146,203,423 (GRCm39) missense possibly damaging 0.53
X0019:Ralgapa2 UTSW 2 146,230,572 (GRCm39) missense possibly damaging 0.56
Z1088:Ralgapa2 UTSW 2 146,276,825 (GRCm39) missense probably benign 0.20
Predicted Primers PCR Primer
(F):5'- AGCCCAGTTTCACATCGCAC -3'
(R):5'- ACCATTGGAATTATGCATCCCC -3'

Sequencing Primer
(F):5'- CAGTTTCACATCGCACTAATGAGTC -3'
(R):5'- GGAATTATGCATCCCCCGTAC -3'
Posted On 2015-10-08