Incidental Mutation 'R7780:Ralgapa2'
ID 599143
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 045836-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.250) question?
Stock # R7780 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 146081799-146354264 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 146184334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 1511 (G1511S)
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: G1511S

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000105613
Gene: ENSMUSG00000037110
AA Change: G1511S

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: G1473S

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000122039
Gene: ENSMUSG00000037110
AA Change: G1473S

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: G499S

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: G1143S

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: G1558S

PolyPhen 2 Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)
Meta Mutation Damage Score 0.0607 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (77/77)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 C T 8: 25,294,432 (GRCm39) R389K possibly damaging Het
Ahnak2 C T 12: 112,746,716 (GRCm39) V1205M Het
Ccr3 A G 9: 123,828,989 (GRCm39) Y108C probably benign Het
Cers5 T G 15: 99,637,589 (GRCm39) H220P probably damaging Het
Cfap61 A T 2: 145,995,692 (GRCm39) N1086Y possibly damaging Het
Cip2a T A 16: 48,822,023 (GRCm39) L217* probably null Het
Clstn3 T C 6: 124,439,161 (GRCm39) E32G probably damaging Het
Cox20 T C 1: 178,149,566 (GRCm39) C72R probably benign Het
Csf1 A T 3: 107,657,709 (GRCm39) N154K probably damaging Het
Cyp2j7 T A 4: 96,118,256 (GRCm39) K112N probably benign Het
Drosha A G 15: 12,848,172 (GRCm39) D488G probably benign Het
Edem1 A G 6: 108,818,589 (GRCm39) K199R probably benign Het
Esyt2 T C 12: 116,305,718 (GRCm39) I316T probably benign Het
Evpl C T 11: 116,125,000 (GRCm39) R154H not run Het
Fbn1 A G 2: 125,143,678 (GRCm39) L2817P probably benign Het
Fbxo42 T A 4: 140,921,131 (GRCm39) probably null Het
Fbxo43 T C 15: 36,162,358 (GRCm39) D283G probably damaging Het
Fdxr A T 11: 115,167,656 (GRCm39) S20T probably benign Het
Fkbp10 T C 11: 100,312,048 (GRCm39) Y203H probably damaging Het
Galntl6 C T 8: 58,880,733 (GRCm39) probably null Het
Gask1b G A 3: 79,848,711 (GRCm39) G486S probably damaging Het
Gm26657 C A 4: 56,741,056 (GRCm39) Y80* probably null Het
Gm973 T A 1: 59,597,289 (GRCm39) W440R probably damaging Het
Helz T A 11: 107,528,689 (GRCm39) F903Y probably damaging Het
Iqcf4 T A 9: 106,445,860 (GRCm39) I96F possibly damaging Het
Kcnq5 T A 1: 22,031,555 (GRCm39) Q84L probably benign Het
Krit1 G A 5: 3,862,772 (GRCm39) G254S probably damaging Het
Krtap6-2 A T 16: 89,216,510 (GRCm39) Y152* probably null Het
Loricrin A T 3: 91,988,460 (GRCm39) Y275* probably null Het
Map4 T C 9: 109,863,720 (GRCm39) I315T probably benign Het
Mcpt1 T A 14: 56,256,609 (GRCm39) probably null Het
Mdh1b C A 1: 63,759,133 (GRCm39) S153I possibly damaging Het
Mfsd12 C A 10: 81,193,718 (GRCm39) A96E probably benign Het
Mki67 T C 7: 135,315,697 (GRCm39) E55G probably benign Het
Mterf4 T C 1: 93,232,689 (GRCm39) E54G probably benign Het
Mucl3 A G 17: 35,947,874 (GRCm39) S452P possibly damaging Het
Nuggc T A 14: 65,882,490 (GRCm39) I745N probably damaging Het
Or6k6 T C 1: 173,945,115 (GRCm39) I156V probably benign Het
Or7g18 A G 9: 18,786,910 (GRCm39) T93A possibly damaging Het
Parg A T 14: 31,930,758 (GRCm39) N126I possibly damaging Het
Pcdh9 T C 14: 94,123,987 (GRCm39) I728V possibly damaging Het
Pcdha1 C G 18: 37,065,511 (GRCm39) P725R probably benign Het
Pcdha11 T A 18: 37,145,849 (GRCm39) L647M probably damaging Het
Phb2 T C 6: 124,692,995 (GRCm39) probably null Het
Plb1 A G 5: 32,483,610 (GRCm39) probably null Het
Pmch T A 10: 87,927,113 (GRCm39) F39I probably benign Het
Psmd7 A T 8: 108,307,920 (GRCm39) S188T possibly damaging Het
Pycr2 T A 1: 180,733,913 (GRCm39) D168E probably damaging Het
Rab43 A G 6: 87,771,692 (GRCm39) Y96H probably damaging Het
Rb1cc1 T A 1: 6,319,138 (GRCm39) C852* probably null Het
Rexo2 T C 9: 48,380,145 (GRCm39) N229S probably damaging Het
Sema4f A G 6: 82,890,941 (GRCm39) V622A possibly damaging Het
Serpina10 T C 12: 103,594,806 (GRCm39) S138G probably benign Het
Sptbn4 T A 7: 27,061,059 (GRCm39) T2415S possibly damaging Het
Tbc1d22b A G 17: 29,792,040 (GRCm39) N257D probably benign Het
Tbl3 A G 17: 24,921,205 (GRCm39) F529L probably damaging Het
Them6 A T 15: 74,593,427 (GRCm39) N95I probably benign Het
Thrb T C 14: 18,008,608 (GRCm38) S156P possibly damaging Het
Tmem186 G A 16: 8,453,731 (GRCm39) R177C probably benign Het
Ttn T A 2: 76,660,937 (GRCm39) probably null Het
Unc13a T A 8: 72,110,979 (GRCm39) I411F probably benign Het
Uqcc1 T C 2: 155,752,073 (GRCm39) probably null Het
Vmn1r56 T C 7: 5,199,516 (GRCm39) T34A possibly damaging Het
Vps39 A T 2: 120,155,680 (GRCm39) Y542* probably null Het
Wdr64 T C 1: 175,556,542 (GRCm39) L263P probably damaging Het
Wdr90 C T 17: 26,065,300 (GRCm39) R1652Q probably damaging Het
Wfdc16 A G 2: 164,477,785 (GRCm39) M88T probably benign Het
Wnk4 A G 11: 101,160,403 (GRCm39) D679G probably damaging Het
Ykt6 T C 11: 5,912,751 (GRCm39) I151T probably benign Het
Zbtb46 A G 2: 181,033,225 (GRCm39) C479R probably damaging Het
Zc3h7a A G 16: 10,967,115 (GRCm39) I559T probably benign Het
Zfhx3 A G 8: 109,678,283 (GRCm39) N3111S possibly damaging Het
Zfp619 T C 7: 39,184,432 (GRCm39) V154A possibly damaging Het
Zfp629 A T 7: 127,211,601 (GRCm39) D69E probably benign Het
Zfp882 T A 8: 72,668,073 (GRCm39) I300N possibly damaging Het
Zfp934 T C 13: 62,666,358 (GRCm39) H106R possibly damaging Het
Zfta T C 19: 7,399,737 (GRCm39) S495P probably damaging Het
Zfyve9 G A 4: 108,576,298 (GRCm39) T261I possibly 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
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
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'- TGTGATGGTAAAAGGCATTCGG -3'
(R):5'- CATGACAATGCCCATGTGGAAG -3'

Sequencing Primer
(F):5'- CATTCGGGGCTTGTATGGC -3'
(R):5'- TGGAAGGAACTGAGCTGTCCTC -3'
Posted On 2019-11-26