Incidental Mutation 'R8856:Ralgapa2'
ID 675305
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 068737-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.250) question?
Stock # R8856 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 146081799-146354264 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 146184139 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 1576 (Q1576K)
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: Q1576K

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000105613
Gene: ENSMUSG00000037110
AA Change: Q1576K

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: Q1538K

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000122039
Gene: ENSMUSG00000037110
AA Change: Q1538K

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: Q564K

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: Q1208K

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: Q1623K

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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
A2m G A 6: 121,618,349 (GRCm39) R214H probably benign Het
Abca4 A G 3: 121,906,096 (GRCm39) S822G probably benign Het
Adgrv1 T A 13: 81,707,621 (GRCm39) I1262F probably benign Het
Agbl2 A G 2: 90,632,088 (GRCm39) D482G probably damaging Het
Asph T A 4: 9,630,947 (GRCm39) T134S possibly damaging Het
Cacna1a C T 8: 85,286,070 (GRCm39) A905V probably benign Het
Cacna1b C T 2: 24,569,530 (GRCm39) R798H probably benign Het
Cpne8 G T 15: 90,486,044 (GRCm39) Q140K probably benign Het
Crocc2 A T 1: 93,120,847 (GRCm39) N538I probably benign Het
Cyp2j9 T A 4: 96,462,184 (GRCm39) I366F probably damaging Het
Dchs1 A T 7: 105,410,064 (GRCm39) D1769E probably damaging Het
Def6 A T 17: 28,435,972 (GRCm39) I44F probably damaging Het
Dnah7a G A 1: 53,462,422 (GRCm39) T3723M probably damaging Het
Ecd T A 14: 20,387,140 (GRCm39) Y198F probably damaging Het
Ecel1 A C 1: 87,079,760 (GRCm39) M451R probably damaging Het
Eea1 A G 10: 95,831,506 (GRCm39) D199G probably benign Het
Efna5 A T 17: 62,914,374 (GRCm39) I217N unknown Het
F13a1 A T 13: 37,100,859 (GRCm39) D428E probably damaging Het
Fads1 T G 19: 10,170,276 (GRCm39) I272S probably benign Het
Fam149a C T 8: 45,834,611 (GRCm39) A63T Het
Fam83a A T 15: 57,872,977 (GRCm39) N269Y probably damaging Het
Fasn G A 11: 120,708,979 (GRCm39) T568I possibly damaging Het
Fbn1 A G 2: 125,156,637 (GRCm39) S2363P probably damaging Het
Fbxl4 T A 4: 22,390,803 (GRCm39) W329R probably damaging Het
Fgf12 A T 16: 28,008,233 (GRCm39) V189E probably damaging Het
Frmd4b A T 6: 97,269,359 (GRCm39) Y984* probably null Het
Galm A G 17: 80,490,661 (GRCm39) T273A possibly damaging Het
Gm43302 A G 5: 105,438,739 (GRCm39) S50P probably damaging Het
Gm45861 C T 8: 28,010,788 (GRCm39) S561L unknown Het
Gnao1 A G 8: 94,538,045 (GRCm39) I28V probably benign Het
Golga4 A G 9: 118,385,779 (GRCm39) N967S probably damaging Het
Gpr155 A T 2: 73,203,993 (GRCm39) F274I probably benign Het
Grm1 A C 10: 10,595,092 (GRCm39) N845K probably damaging Het
Hnrnpa2b1 A T 6: 51,443,120 (GRCm39) probably null Het
Hsf4 G T 8: 105,996,628 (GRCm39) D18Y probably null Het
Htt T A 5: 35,060,675 (GRCm39) D2774E probably benign Het
Iars2 A G 1: 185,028,621 (GRCm39) I679T probably benign Het
Irf4 T C 13: 30,945,414 (GRCm39) F387L probably damaging Het
Itgb5 A G 16: 33,720,962 (GRCm39) Y342C probably damaging Het
Kcnmb4 A G 10: 116,282,299 (GRCm39) W133R possibly damaging Het
Ldhc A T 7: 46,525,999 (GRCm39) H271L probably benign Het
Lmtk2 C A 5: 144,113,079 (GRCm39) D1266E probably damaging Het
Lrrtm1 C A 6: 77,221,807 (GRCm39) N421K possibly damaging Het
Ly9 G A 1: 171,432,587 (GRCm39) T142I probably benign Het
Manba A G 3: 135,223,764 (GRCm39) Y217C probably damaging Het
Mapkbp1 T C 2: 119,845,109 (GRCm39) L330P probably damaging Het
Marchf2 A T 17: 33,915,165 (GRCm39) V143E probably benign Het
Mmel1 A T 4: 154,969,478 (GRCm39) D191V possibly damaging Het
Mrgpra1 A T 7: 46,985,583 (GRCm39) I32N probably benign Het
Mroh2b C T 15: 4,960,510 (GRCm39) Q748* probably null Het
Mrpl34 T G 8: 71,918,024 (GRCm39) W66G probably damaging Het
Muc21 T C 17: 35,931,865 (GRCm39) T774A unknown Het
Nde1 T A 16: 14,001,446 (GRCm39) S165T Het
Nek10 T G 14: 14,937,610 (GRCm38) I776M probably damaging Het
Nell2 A G 15: 95,281,552 (GRCm39) S385P probably damaging Het
Nsf A T 11: 103,821,568 (GRCm39) F29Y possibly damaging Het
Nsmaf A T 4: 6,433,320 (GRCm39) Y133* probably null Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or14j8 A T 17: 38,263,091 (GRCm39) S275T possibly damaging Het
Pcdhb8 A G 18: 37,489,776 (GRCm39) I485V probably benign Het
Poteg T A 8: 27,938,033 (GRCm39) M1K probably null Het
Pramel24 A T 4: 143,453,303 (GRCm39) N137I probably benign Het
Prdm5 G A 6: 65,860,569 (GRCm39) V418I possibly damaging Het
Psmc6 T A 14: 45,578,320 (GRCm39) C228S probably damaging Het
Ptgfrn C T 3: 100,963,927 (GRCm39) A562T possibly damaging Het
Ranbp9 C T 13: 43,567,506 (GRCm39) G400D probably damaging Het
Rgs11 A T 17: 26,423,484 (GRCm39) I134F probably damaging Het
Rnf150 T A 8: 83,762,715 (GRCm39) C317S probably damaging Het
Rrm2b G A 15: 37,960,858 (GRCm39) probably benign Het
Scai T C 2: 38,996,978 (GRCm39) Q272R probably benign Het
Sec62 C T 3: 30,847,506 (GRCm39) R4C possibly damaging Het
Sgo2b C A 8: 64,393,091 (GRCm39) L115F probably null Het
Slc44a3 G A 3: 121,307,456 (GRCm39) P177S probably damaging Het
Slc45a4 G A 15: 73,457,966 (GRCm39) L528F probably damaging Het
Slco1a1 G T 6: 141,857,624 (GRCm39) A569D probably damaging Het
Stam2 G T 2: 52,604,984 (GRCm39) Q184K probably damaging Het
Tada2b A T 5: 36,641,166 (GRCm39) L79Q probably damaging Het
Tecpr1 T C 5: 144,153,117 (GRCm39) E204G possibly damaging Het
Tecta A T 9: 42,284,597 (GRCm39) D829E probably benign Het
Tepsin A G 11: 119,982,654 (GRCm39) V472A probably benign Het
Tnfrsf1a G A 6: 125,334,688 (GRCm39) M109I possibly damaging Het
Trim42 A T 9: 97,245,275 (GRCm39) Y508* probably null Het
Trmo T G 4: 46,387,625 (GRCm39) N65T probably benign Het
Tspear G T 10: 77,665,471 (GRCm39) E86* probably null Het
Ubr1 A T 2: 120,734,523 (GRCm39) S1126T probably damaging Het
Usp50 C A 2: 126,622,477 (GRCm39) D28Y probably damaging Het
Utp6 T A 11: 79,842,455 (GRCm39) I225F probably benign Het
Utrn T C 10: 12,543,351 (GRCm39) T1766A probably benign Het
Vcl T A 14: 21,045,160 (GRCm39) N288K probably benign Het
Vmn2r69 T C 7: 85,061,663 (GRCm39) N104D probably benign Het
Zc3h7b G A 15: 81,656,681 (GRCm39) R166Q probably benign Het
Zfhx4 T A 3: 5,455,484 (GRCm39) S1159R 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
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
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'- CTGCAGAAATAAAAGGGTCCCC -3'
(R):5'- GTACTCTTGGGATGGCAAGG -3'

Sequencing Primer
(F):5'- ATAAAAGGGTCCCCGGGGC -3'
(R):5'- CAAGGTTTTATATGGACCTCTGGAAG -3'
Posted On 2021-07-15