Incidental Mutation 'R4677:Ralgapa2'
ID 349636
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 042014-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # R4677 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 146081799-146354264 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 146187387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 1372 (P1372S)
Ref Sequence ENSEMBL: ENSMUSP00000105613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109986] [ENSMUST00000131824] [ENSMUST00000228797]
AlphaFold A3KGS3
Predicted Effect possibly damaging
Transcript: ENSMUST00000109986
AA Change: P1372S

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105613
Gene: ENSMUSG00000037110
AA Change: P1372S

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: P1334S

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000122039
Gene: ENSMUSG00000037110
AA Change: P1334S

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: P360S
SMART Domains Protein: ENSMUSP00000114547
Gene: ENSMUSG00000037110
AA Change: P360S

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 unknown
Transcript: ENSMUST00000149499
AA Change: P1004S
SMART Domains Protein: ENSMUSP00000122017
Gene: ENSMUSG00000037110
AA Change: P1004S

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: P1419S

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
Meta Mutation Damage Score 0.0814 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 100% (85/85)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 T C 6: 92,793,587 (GRCm39) M1T probably null Het
Akap3 T C 6: 126,842,226 (GRCm39) S282P probably damaging Het
Anxa10 A G 8: 62,516,054 (GRCm39) I206T probably damaging Het
Apobec3 A G 15: 79,779,713 (GRCm39) D52G probably damaging Het
Arl6 A T 16: 59,439,228 (GRCm39) probably null Het
Calcoco1 T C 15: 102,626,329 (GRCm39) E87G probably damaging Het
Ccdc88b C A 19: 6,825,636 (GRCm39) A1206S probably damaging Het
Ccpg1 A G 9: 72,923,197 (GRCm39) probably benign Het
Cdon A G 9: 35,389,901 (GRCm39) N852D probably damaging Het
Cobl T A 11: 12,336,665 (GRCm39) Q41L possibly damaging Het
Cspg4b A G 13: 113,516,020 (GRCm39) T145A unknown Het
Dcdc2b T C 4: 129,507,936 (GRCm39) T39A probably damaging Het
Ddx55 A T 5: 124,705,997 (GRCm39) D474V probably benign Het
Dipk2a A T 9: 94,402,457 (GRCm39) C402S probably damaging Het
Dnah17 A G 11: 118,010,640 (GRCm39) L521P probably damaging Het
Exoc1 A G 5: 76,707,010 (GRCm39) D497G probably null Het
Fam151a A G 4: 106,605,456 (GRCm39) E606G possibly damaging Het
Fbxw11 T A 11: 32,692,535 (GRCm39) L502* probably null Het
Fcrl1 A G 3: 87,297,563 (GRCm39) S337G possibly damaging Het
G6pc1 C A 11: 101,267,439 (GRCm39) F296L probably benign Het
Gm17472 C A 6: 42,957,809 (GRCm39) T26N probably damaging Het
Grin2b A G 6: 135,751,870 (GRCm39) V564A probably benign Het
H2-Ob T C 17: 34,461,618 (GRCm39) I119T probably benign Het
Hhip A G 8: 80,771,726 (GRCm39) Y195H probably damaging Het
Igkc A T 6: 70,703,662 (GRCm39) probably benign Het
Islr A T 9: 58,064,642 (GRCm39) D288E probably damaging Het
Kdelr1 A G 7: 45,523,197 (GRCm39) S36G probably benign Het
Lama5 G T 2: 179,821,159 (GRCm39) H3134Q possibly damaging Het
Loricrin A G 3: 91,989,050 (GRCm39) Y79H unknown Het
Lrp1b A G 2: 40,691,496 (GRCm39) F3327S probably damaging Het
Lrrc41 C T 4: 115,952,332 (GRCm39) H637Y probably benign Het
Map2k6 C T 11: 110,290,220 (GRCm39) probably benign Het
Mcm3ap T G 10: 76,306,404 (GRCm39) F172L probably damaging Het
Muc19 G A 15: 91,772,411 (GRCm39) noncoding transcript Het
Muc21 T A 17: 35,930,599 (GRCm39) probably benign Het
Muc6 T A 7: 141,224,212 (GRCm39) probably benign Het
Nek1 A T 8: 61,481,840 (GRCm39) I252L probably damaging Het
Nrg2 A T 18: 36,154,152 (GRCm39) H588Q possibly damaging Het
Nt5dc2 T C 14: 30,860,878 (GRCm39) V351A possibly damaging Het
Or1j12 A G 2: 36,343,062 (GRCm39) N155S probably benign Het
Or51b17 T C 7: 103,542,615 (GRCm39) E109G probably damaging Het
Or5m5 A G 2: 85,814,315 (GRCm39) T44A possibly damaging Het
Or8k1 A T 2: 86,048,032 (GRCm39) S7R probably benign Het
Pde3a A G 6: 141,411,865 (GRCm39) N480D probably benign Het
Pde6c A G 19: 38,145,833 (GRCm39) K374E probably damaging Het
Pdhx G A 2: 102,903,811 (GRCm39) probably null Het
Pi4ka A G 16: 17,100,237 (GRCm39) Y1888H probably damaging Het
Pnpla2 T A 7: 141,038,356 (GRCm39) M203K probably damaging Het
Prrc2c C T 1: 162,532,748 (GRCm39) probably benign Het
Ptcd3 G T 6: 71,870,498 (GRCm39) H321N probably benign Het
Ptprt A G 2: 161,743,366 (GRCm39) probably null Het
Ptx4 A G 17: 25,342,100 (GRCm39) T192A probably benign Het
Qars1 A G 9: 108,386,889 (GRCm39) probably benign Het
Rps6ka4 G T 19: 6,816,854 (GRCm39) T107K probably damaging Het
Rsf1 A G 7: 97,329,980 (GRCm39) T1169A possibly damaging Het
Ryr2 C A 13: 11,721,553 (GRCm39) W2626L probably damaging Het
Scn4a C T 11: 106,214,788 (GRCm39) V1270I probably damaging Het
Serpinb9b T C 13: 33,223,806 (GRCm39) S333P probably damaging Het
Sned1 A G 1: 93,224,019 (GRCm39) probably benign Het
Sult1c2 C T 17: 54,137,137 (GRCm39) V262M possibly damaging Het
Tll1 A T 8: 64,504,411 (GRCm39) F662I probably benign Het
Tmem161a A T 8: 70,633,597 (GRCm39) probably null Het
Top1mt A C 15: 75,535,907 (GRCm39) V465G possibly damaging Het
Trcg1 A G 9: 57,153,144 (GRCm39) K596E possibly damaging Het
Trim27 T A 13: 21,365,086 (GRCm39) probably null Het
Trpm3 A G 19: 22,964,752 (GRCm39) I1406V possibly damaging Het
Tssc4 T A 7: 142,624,246 (GRCm39) S254T probably damaging Het
Ttc7 C A 17: 87,678,163 (GRCm39) probably benign Het
Usp30 A G 5: 114,257,705 (GRCm39) T288A probably damaging Het
Usp48 C A 4: 137,343,692 (GRCm39) R441S probably benign Het
Vmn1r29 T C 6: 58,284,285 (GRCm39) S2P probably benign Het
Vmn2r65 T A 7: 84,613,082 (GRCm39) I46L possibly damaging Het
Zeb1 A T 18: 5,766,775 (GRCm39) I429F probably damaging Het
Zfp943 A G 17: 22,212,176 (GRCm39) R421G 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
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'- TGCTATCAGAGATCCTATAAACTGGG -3'
(R):5'- CCTCTCTCCTAAGCAGTGTG -3'

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