Incidental Mutation 'R7371:Ralgapa2'
ID 572059
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 045454-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.250) question?
Stock # R7371 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 146081799-146354264 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 146189046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 1288 (T1288I)
Ref Sequence ENSEMBL: ENSMUSP00000105613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109986] [ENSMUST00000131824] [ENSMUST00000228797]
AlphaFold A3KGS3
Predicted Effect probably benign
Transcript: ENSMUST00000109986
AA Change: T1288I

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000105613
Gene: ENSMUSG00000037110
AA Change: T1288I

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 probably benign
Transcript: ENSMUST00000131824
AA Change: T1250I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000122039
Gene: ENSMUSG00000037110
AA Change: T1250I

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
SMART Domains Protein: ENSMUSP00000114547
Gene: ENSMUSG00000037110
AA Change: T276I

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
SMART Domains Protein: ENSMUSP00000122017
Gene: ENSMUSG00000037110
AA Change: T920I

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 probably benign
Transcript: ENSMUST00000228797
AA Change: T1335I

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (88/90)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 A C 12: 81,607,064 (GRCm39) S233A probably damaging Het
Adcy8 T A 15: 64,571,067 (GRCm39) H1222L probably benign Het
Aftph T C 11: 20,676,836 (GRCm39) T258A probably benign Het
Ano3 A C 2: 110,715,194 (GRCm39) probably null Het
Aox4 A G 1: 58,303,013 (GRCm39) D1148G probably damaging Het
Bcl11b A T 12: 107,955,750 (GRCm39) I133N probably damaging Het
Borcs7 T A 19: 46,688,057 (GRCm39) D67E probably damaging Het
Cacna2d4 T A 6: 119,285,670 (GRCm39) I774N probably benign Het
Catsperd A T 17: 56,957,801 (GRCm39) Y236F probably benign Het
Cblc T C 7: 19,526,828 (GRCm39) S135G probably benign Het
Ccdc168 C A 1: 44,100,537 (GRCm39) R187L probably benign Het
Ccdc178 A G 18: 22,263,195 (GRCm39) V138A probably benign Het
Cd300ld C T 11: 114,878,186 (GRCm39) G109R probably damaging Het
Cdh3 T A 8: 107,279,109 (GRCm39) N690K probably damaging Het
Ceacam1 T A 7: 25,174,145 (GRCm39) Y170F possibly damaging Het
Ceacam9 A C 7: 16,457,652 (GRCm39) H55P possibly damaging Het
Celsr1 C T 15: 85,914,875 (GRCm39) V1033I possibly damaging Het
Cep97 T C 16: 55,725,683 (GRCm39) S807G probably benign Het
Ces1b A G 8: 93,783,982 (GRCm39) probably null Het
Chn1 T C 2: 73,510,234 (GRCm39) T92A probably damaging Het
Cimap1b C A 15: 89,263,365 (GRCm39) W6L probably damaging Het
Cngb3 A C 4: 19,425,575 (GRCm39) Y461S possibly damaging Het
Col24a1 A G 3: 145,049,459 (GRCm39) N629S probably benign Het
Cpd T C 11: 76,737,437 (GRCm39) D119G probably benign Het
Cpsf1 T C 15: 76,484,775 (GRCm39) D594G probably damaging Het
Cpsf7 C T 19: 10,509,203 (GRCm39) A38V probably benign Het
Cry1 A T 10: 84,983,783 (GRCm39) H224Q probably benign Het
Ctr9 T A 7: 110,633,014 (GRCm39) D87E probably damaging Het
Cyp2u1 T A 3: 131,087,144 (GRCm39) N479I probably benign Het
Dip2c A G 13: 9,642,785 (GRCm39) N672D probably benign Het
Dnah14 T C 1: 181,454,450 (GRCm39) V820A probably benign Het
Efnb2 T C 8: 8,710,524 (GRCm39) I31V probably benign Het
Fgb T C 3: 82,953,359 (GRCm39) Y137C probably damaging Het
Fkbp15 A G 4: 62,239,293 (GRCm39) V604A possibly damaging Het
Flii A T 11: 60,609,090 (GRCm39) N682K probably benign Het
Fmo3 A G 1: 162,781,796 (GRCm39) L519P possibly damaging Het
Gapvd1 T A 2: 34,607,385 (GRCm39) M538L probably benign Het
Gbp11 A G 5: 105,489,971 (GRCm39) V69A probably benign Het
Ggn T A 7: 28,871,605 (GRCm39) D364E probably benign Het
Gm10377 G A 14: 42,614,853 (GRCm39) P171S probably benign Het
Gramd4 C T 15: 86,019,607 (GRCm39) A625V probably benign Het
Il2ra T A 2: 11,647,831 (GRCm39) M7K probably benign Het
Iqgap2 A T 13: 95,836,846 (GRCm39) probably null Het
Itgb4 T C 11: 115,888,906 (GRCm39) V1083A probably benign Het
Kcnma1 G A 14: 23,544,638 (GRCm39) A573V possibly damaging Het
Kirrel1 T C 3: 86,995,729 (GRCm39) T402A probably benign Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Krt4 T A 15: 101,828,823 (GRCm39) Q347L probably damaging Het
Map3k21 T A 8: 126,661,804 (GRCm39) I467N probably damaging Het
Mastl A T 2: 23,030,585 (GRCm39) S195T probably damaging Het
Mis18bp1 G T 12: 65,205,368 (GRCm39) T268K probably benign Het
Mmp17 G A 5: 129,682,836 (GRCm39) G492S probably null Het
Myc T A 15: 61,860,031 (GRCm39) S236T probably damaging Het
Nlrp5 A T 7: 23,117,848 (GRCm39) E524V probably damaging Het
Nopchap1 T C 10: 83,201,680 (GRCm39) V151A probably benign Het
Npr3 T A 15: 11,845,376 (GRCm39) probably null Het
Oog4 T C 4: 143,165,346 (GRCm39) N267S possibly damaging Het
Or2a12 T A 6: 42,904,469 (GRCm39) Y101* probably null Het
Or4l15 A T 14: 50,198,563 (GRCm39) probably null Het
Or56a5 A G 7: 104,793,086 (GRCm39) I138T possibly damaging Het
Pde4dip T C 3: 97,664,587 (GRCm39) E425G probably benign Het
Piwil4 A C 9: 14,638,729 (GRCm39) N312K probably benign Het
Pmepa1 A G 2: 173,076,212 (GRCm39) M47T possibly damaging Het
Potefam1 A T 2: 111,023,826 (GRCm39) S475T unknown Het
Prkcg G A 7: 3,368,069 (GRCm39) G372D probably benign Het
Prune2 A G 19: 17,096,734 (GRCm39) H746R probably benign Het
Ptma GGAAGAAG GGAAGAAGAAG 1: 86,457,261 (GRCm39) probably benign Het
Rab3gap2 C G 1: 184,983,265 (GRCm39) A468G probably damaging Het
Ralb A G 1: 119,400,129 (GRCm39) L123P Het
Samd4b C A 7: 28,122,926 (GRCm39) C44F probably benign Het
Satb1 C A 17: 52,090,008 (GRCm39) E280* probably null Het
Sec1 T C 7: 45,328,034 (GRCm39) T338A probably damaging Het
Sec16a T C 2: 26,331,734 (GRCm39) T94A probably benign Het
Serpina1f G A 12: 103,656,086 (GRCm39) R381W probably damaging Het
Sfswap A T 5: 129,620,305 (GRCm39) T525S probably benign Het
Skor1 T C 9: 63,054,169 (GRCm39) probably null Het
Spc24 A G 9: 21,668,664 (GRCm39) L111P probably damaging Het
St8sia2 T C 7: 73,616,675 (GRCm39) D121G probably damaging Het
Tanc2 A G 11: 105,689,422 (GRCm39) T195A probably benign Het
Tbc1d9 T A 8: 83,997,890 (GRCm39) I1149N probably damaging Het
Tph2 A T 10: 114,987,016 (GRCm39) L258Q probably damaging Het
Trpm3 A T 19: 22,879,557 (GRCm39) M781L probably benign Het
Ubap2 G T 4: 41,195,779 (GRCm39) P1005T probably benign Het
Upf2 A G 2: 5,965,851 (GRCm39) E157G unknown Het
Urb2 C A 8: 124,755,008 (GRCm39) D238E probably benign Het
Vipr1 T C 9: 121,497,621 (GRCm39) S380P probably damaging Het
Zc3h18 T A 8: 123,139,760 (GRCm39) S734T unknown Het
Zmym6 T A 4: 126,998,106 (GRCm39) Y381N probably damaging Het
Zscan4e T C 7: 11,041,251 (GRCm39) K207R probably benign 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
R4627:Ralgapa2 UTSW 2 146,203,373 (GRCm39) missense possibly damaging 0.88
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
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'- GAATTGTCCCTGTGTATACTCAGTC -3'
(R):5'- TGCAAGGCCATCTAGGGATTC -3'

Sequencing Primer
(F):5'- GTCTTTAATGGACACACAAGTACAGG -3'
(R):5'- GCAAGGCCATCTAGGGATTCTTAAC -3'
Posted On 2019-09-13