Incidental Mutation 'R9510:Ralgapb'
ID 718070
Institutional Source Beutler Lab
Gene Symbol Ralgapb
Ensembl Gene ENSMUSG00000027652
Gene Name Ral GTPase activating protein, beta subunit (non-catalytic)
Synonyms B230339M05Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9510 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 158251768-158341173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 158285856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 645 (S645T)
Ref Sequence ENSEMBL: ENSMUSP00000105111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046274] [ENSMUST00000109485] [ENSMUST00000109486] [ENSMUST00000141497]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000046274
AA Change: S633T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048430
Gene: ENSMUSG00000027652
AA Change: S633T

DomainStartEndE-ValueType
low complexity region 166 178 N/A INTRINSIC
low complexity region 610 625 N/A INTRINSIC
low complexity region 775 788 N/A INTRINSIC
low complexity region 910 920 N/A INTRINSIC
low complexity region 1086 1097 N/A INTRINSIC
low complexity region 1309 1321 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109485
AA Change: S645T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105111
Gene: ENSMUSG00000027652
AA Change: S645T

DomainStartEndE-ValueType
low complexity region 166 178 N/A INTRINSIC
low complexity region 622 637 N/A INTRINSIC
low complexity region 791 804 N/A INTRINSIC
low complexity region 926 936 N/A INTRINSIC
low complexity region 1102 1113 N/A INTRINSIC
low complexity region 1325 1337 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109486
AA Change: S633T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105112
Gene: ENSMUSG00000027652
AA Change: S633T

DomainStartEndE-ValueType
low complexity region 166 178 N/A INTRINSIC
low complexity region 610 625 N/A INTRINSIC
low complexity region 779 792 N/A INTRINSIC
low complexity region 914 924 N/A INTRINSIC
low complexity region 1090 1101 N/A INTRINSIC
low complexity region 1313 1325 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000141497
AA Change: S311T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116481
Gene: ENSMUSG00000027652
AA Change: S311T

DomainStartEndE-ValueType
low complexity region 288 303 N/A INTRINSIC
low complexity region 457 470 N/A INTRINSIC
low complexity region 592 602 N/A INTRINSIC
low complexity region 768 779 N/A INTRINSIC
low complexity region 991 1003 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578G10Rik T G 4: 42,760,998 (GRCm39) W6G unknown Het
Aatk A T 11: 119,901,094 (GRCm39) C1101S probably benign Het
Ankrd61 T C 5: 143,828,322 (GRCm39) T218A possibly damaging Het
Cacna1b T C 2: 24,540,058 (GRCm39) E1467G probably damaging Het
Ccdc186 T C 19: 56,802,016 (GRCm39) T34A probably benign Het
Cdc42bpb G A 12: 111,261,372 (GRCm39) P1656S probably benign Het
Cdk13 A C 13: 17,902,747 (GRCm39) C934W probably damaging Het
Cebpg T C 7: 34,750,080 (GRCm39) N61S probably benign Het
Cldn13 T A 5: 134,943,843 (GRCm39) E114V probably benign Het
Clec9a T A 6: 129,398,023 (GRCm39) I187K possibly damaging Het
Cr2 G T 1: 194,840,416 (GRCm39) L509M probably damaging Het
Creb3l2 C A 6: 37,311,446 (GRCm39) G448W probably damaging Het
Csf2rb T A 15: 78,229,760 (GRCm39) probably null Het
Cyth1 C T 11: 118,076,206 (GRCm39) probably null Het
Dapk1 A T 13: 60,910,203 (GRCm39) D1441V unknown Het
Dnhd1 A T 7: 105,352,889 (GRCm39) N2681Y possibly damaging Het
Dnm1 T C 2: 32,213,739 (GRCm39) M476V probably benign Het
Dock1 T G 7: 134,592,279 (GRCm39) I938S probably benign Het
Duox1 G A 2: 122,160,023 (GRCm39) V713I possibly damaging Het
Dusp16 T C 6: 134,695,226 (GRCm39) H535R probably benign Het
Eif3j2 TGCCGCCGCCGCCGCCGCCGCCGCCGCC TGCCGCCGCCGCCGCCGCCGCCGCC 18: 43,610,782 (GRCm39) probably benign Het
Fancd2os T A 6: 113,574,994 (GRCm39) Y4F probably damaging Het
Fat4 A T 3: 39,037,886 (GRCm39) Q3846L probably benign Het
Fbxw10 A C 11: 62,743,814 (GRCm39) H240P probably benign Het
Fer1l5 T C 1: 36,442,662 (GRCm39) L727P probably damaging Het
Fezf1 A C 6: 23,247,845 (GRCm39) F77V probably benign Het
Fli1 T C 9: 32,335,493 (GRCm39) D313G probably damaging Het
Frmd4a A G 2: 4,608,324 (GRCm39) T731A probably benign Het
Gfy T C 7: 44,828,090 (GRCm39) Q2R possibly damaging Het
Ggt5 T C 10: 75,445,139 (GRCm39) V382A probably benign Het
Hira A G 16: 18,772,789 (GRCm39) D867G probably damaging Het
Hmcn1 A G 1: 150,462,127 (GRCm39) S5184P probably benign Het
Ighv1-26 A C 12: 114,752,407 (GRCm39) F7V probably benign Het
Igkv4-81 C T 6: 68,967,796 (GRCm39) E102K possibly damaging Het
Inmt G T 6: 55,147,990 (GRCm39) S213Y possibly damaging Het
Ints2 T A 11: 86,135,335 (GRCm39) M360L probably benign Het
Itih3 A G 14: 30,631,416 (GRCm39) S827P probably benign Het
Kcnk12 C A 17: 88,054,122 (GRCm39) R180L probably benign Het
Klhl2 T C 8: 65,202,113 (GRCm39) N521S probably benign Het
Kmt2a A T 9: 44,734,531 (GRCm39) F2104I unknown Het
Kndc1 G A 7: 139,510,031 (GRCm39) S1291N probably benign Het
Mettl21a T C 1: 64,647,285 (GRCm39) T91A probably damaging Het
Mmrn2 A G 14: 34,120,407 (GRCm39) I426V possibly damaging Het
Mrpl2 T C 17: 46,958,440 (GRCm39) V74A probably benign Het
Msantd4 A G 9: 4,385,007 (GRCm39) D244G probably benign Het
Mtfmt C T 9: 65,343,147 (GRCm39) R18C probably benign Het
Ncam2 A G 16: 81,420,341 (GRCm39) *838W probably null Het
Ncor1 CTG CTGATG 11: 62,324,442 (GRCm39) probably benign Het
Nsf T C 11: 103,763,988 (GRCm39) N365S probably damaging Het
Osbpl3 C T 6: 50,313,194 (GRCm39) probably null Het
Pam C T 1: 97,826,065 (GRCm39) probably null Het
Parn A T 16: 13,358,942 (GRCm39) M600K probably benign Het
Pcdha11 C A 18: 37,139,532 (GRCm39) T387N probably benign Het
Ptprt A C 2: 161,397,381 (GRCm39) C1129G probably damaging Het
Rara C T 11: 98,860,983 (GRCm39) S157L probably benign Het
Rnf40 T A 7: 127,201,808 (GRCm39) I1000N probably damaging Het
Sap25 C T 5: 137,640,494 (GRCm39) T141I probably null Het
Scube2 C T 7: 109,430,969 (GRCm39) G410E probably damaging Het
Sh3gl2 A G 4: 85,304,089 (GRCm39) E264G probably benign Het
Smc4 T G 3: 68,914,662 (GRCm39) S92A probably damaging Het
Sorcs1 C T 19: 50,666,521 (GRCm39) R129Q probably benign Het
Spata31e4 A G 13: 50,856,149 (GRCm39) T596A possibly damaging Het
Spef2 T C 15: 9,713,203 (GRCm39) R390G probably damaging Het
Speg T C 1: 75,377,768 (GRCm39) F842S probably damaging Het
Stk17b G T 1: 53,796,898 (GRCm39) H290N probably damaging Het
Stpg3 A T 2: 25,103,516 (GRCm39) V191D probably benign Het
Supt6 C T 11: 78,120,290 (GRCm39) R350H probably damaging Het
Taf1b G A 12: 24,566,947 (GRCm39) A214T possibly damaging Het
Tet3 T C 6: 83,380,935 (GRCm39) E411G possibly damaging Het
Tet3 T A 6: 83,381,808 (GRCm39) probably null Het
Tg T C 15: 66,545,913 (GRCm39) Y212H probably damaging Het
Tns3 A G 11: 8,395,702 (GRCm39) I1234T probably damaging Het
Traf6 C T 2: 101,521,825 (GRCm39) T220I possibly damaging Het
Tram2 C G 1: 21,074,150 (GRCm39) A263P possibly damaging Het
Treml1 T G 17: 48,673,771 (GRCm39) S261A probably damaging Het
Trim34b A G 7: 103,980,503 (GRCm39) E197G probably damaging Het
Tspan18 C T 2: 93,050,462 (GRCm39) G54S probably damaging Het
Wdtc1 A G 4: 133,049,529 (GRCm39) V29A probably damaging Het
Zdhhc16 T C 19: 41,929,155 (GRCm39) Y253H probably damaging Het
Zfp366 A G 13: 99,365,874 (GRCm39) Y345C probably damaging Het
Zfp423 T A 8: 88,510,041 (GRCm39) D101V possibly damaging Het
Zfp462 G A 4: 55,080,735 (GRCm39) M2450I probably benign Het
Zfp52 C T 17: 21,782,218 (GRCm39) L689F possibly damaging Het
Zim1 G A 7: 6,690,739 (GRCm39) Q29* probably null Het
Other mutations in Ralgapb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Ralgapb APN 2 158,262,776 (GRCm39) missense probably damaging 1.00
IGL00534:Ralgapb APN 2 158,272,420 (GRCm39) missense possibly damaging 0.72
IGL01362:Ralgapb APN 2 158,277,385 (GRCm39) missense probably damaging 1.00
IGL01653:Ralgapb APN 2 158,304,079 (GRCm39) missense possibly damaging 0.94
IGL01704:Ralgapb APN 2 158,262,795 (GRCm39) missense possibly damaging 0.92
IGL02000:Ralgapb APN 2 158,296,034 (GRCm39) splice site probably benign
IGL02169:Ralgapb APN 2 158,268,124 (GRCm39) missense probably damaging 1.00
IGL02516:Ralgapb APN 2 158,307,735 (GRCm39) splice site probably benign
IGL02548:Ralgapb APN 2 158,286,585 (GRCm39) missense probably damaging 0.97
IGL02550:Ralgapb APN 2 158,290,331 (GRCm39) missense probably damaging 1.00
IGL02653:Ralgapb APN 2 158,285,229 (GRCm39) missense probably damaging 1.00
IGL02744:Ralgapb APN 2 158,288,071 (GRCm39) missense probably damaging 1.00
IGL02804:Ralgapb APN 2 158,268,204 (GRCm39) missense possibly damaging 0.78
IGL02937:Ralgapb APN 2 158,334,936 (GRCm39) splice site probably null
IGL02993:Ralgapb APN 2 158,279,314 (GRCm39) missense possibly damaging 0.90
IGL03154:Ralgapb APN 2 158,274,786 (GRCm39) missense probably damaging 1.00
IGL03204:Ralgapb APN 2 158,307,832 (GRCm39) missense possibly damaging 0.67
IGL03347:Ralgapb APN 2 158,307,880 (GRCm39) missense possibly damaging 0.67
Chacha UTSW 2 158,334,372 (GRCm39) missense probably damaging 0.99
Gato UTSW 2 158,286,540 (GRCm39) missense probably damaging 1.00
Kibble UTSW 2 158,279,060 (GRCm39) missense probably damaging 1.00
ralston UTSW 2 158,296,197 (GRCm39) missense probably damaging 1.00
PIT4142001:Ralgapb UTSW 2 158,272,342 (GRCm39) missense probably benign 0.34
R0037:Ralgapb UTSW 2 158,279,331 (GRCm39) missense probably damaging 1.00
R0037:Ralgapb UTSW 2 158,279,331 (GRCm39) missense probably damaging 1.00
R0077:Ralgapb UTSW 2 158,315,169 (GRCm39) missense probably damaging 1.00
R0581:Ralgapb UTSW 2 158,334,881 (GRCm39) missense probably benign
R0629:Ralgapb UTSW 2 158,281,467 (GRCm39) missense probably damaging 1.00
R0839:Ralgapb UTSW 2 158,315,203 (GRCm39) critical splice donor site probably null
R1331:Ralgapb UTSW 2 158,272,453 (GRCm39) missense probably damaging 1.00
R1468:Ralgapb UTSW 2 158,304,173 (GRCm39) missense possibly damaging 0.95
R1468:Ralgapb UTSW 2 158,304,173 (GRCm39) missense possibly damaging 0.95
R1540:Ralgapb UTSW 2 158,307,746 (GRCm39) missense probably benign 0.00
R1572:Ralgapb UTSW 2 158,288,119 (GRCm39) splice site probably benign
R1628:Ralgapb UTSW 2 158,272,383 (GRCm39) missense probably benign 0.04
R1718:Ralgapb UTSW 2 158,285,200 (GRCm39) nonsense probably null
R1777:Ralgapb UTSW 2 158,304,115 (GRCm39) missense probably damaging 1.00
R1822:Ralgapb UTSW 2 158,334,372 (GRCm39) missense probably damaging 0.99
R1903:Ralgapb UTSW 2 158,337,483 (GRCm39) missense probably benign 0.04
R1909:Ralgapb UTSW 2 158,286,595 (GRCm39) missense probably damaging 1.00
R2157:Ralgapb UTSW 2 158,279,392 (GRCm39) missense probably benign 0.15
R4524:Ralgapb UTSW 2 158,279,226 (GRCm39) missense probably benign 0.00
R4946:Ralgapb UTSW 2 158,282,887 (GRCm39) missense probably damaging 1.00
R4975:Ralgapb UTSW 2 158,277,428 (GRCm39) missense possibly damaging 0.66
R5014:Ralgapb UTSW 2 158,337,455 (GRCm39) missense probably damaging 1.00
R5165:Ralgapb UTSW 2 158,307,832 (GRCm39) missense possibly damaging 0.67
R5465:Ralgapb UTSW 2 158,290,325 (GRCm39) missense possibly damaging 0.81
R5526:Ralgapb UTSW 2 158,274,705 (GRCm39) missense probably damaging 1.00
R5566:Ralgapb UTSW 2 158,336,630 (GRCm39) missense possibly damaging 0.90
R5949:Ralgapb UTSW 2 158,296,179 (GRCm39) missense probably damaging 1.00
R6140:Ralgapb UTSW 2 158,298,492 (GRCm39) missense probably damaging 1.00
R6175:Ralgapb UTSW 2 158,288,075 (GRCm39) missense probably damaging 1.00
R6192:Ralgapb UTSW 2 158,291,367 (GRCm39) splice site probably null
R6364:Ralgapb UTSW 2 158,304,029 (GRCm39) missense probably damaging 1.00
R6458:Ralgapb UTSW 2 158,286,540 (GRCm39) missense probably damaging 1.00
R6746:Ralgapb UTSW 2 158,318,056 (GRCm39) missense probably damaging 1.00
R6782:Ralgapb UTSW 2 158,278,486 (GRCm39) missense probably damaging 0.99
R6788:Ralgapb UTSW 2 158,278,486 (GRCm39) missense probably damaging 0.99
R7017:Ralgapb UTSW 2 158,290,257 (GRCm39) missense probably benign 0.19
R7108:Ralgapb UTSW 2 158,336,582 (GRCm39) missense probably damaging 1.00
R7108:Ralgapb UTSW 2 158,334,380 (GRCm39) missense probably damaging 0.98
R7236:Ralgapb UTSW 2 158,282,747 (GRCm39) missense probably benign 0.34
R7454:Ralgapb UTSW 2 158,274,822 (GRCm39) missense possibly damaging 0.94
R7485:Ralgapb UTSW 2 158,285,275 (GRCm39) missense probably benign 0.35
R7595:Ralgapb UTSW 2 158,268,085 (GRCm39) missense possibly damaging 0.91
R7615:Ralgapb UTSW 2 158,292,190 (GRCm39) missense probably damaging 0.99
R7728:Ralgapb UTSW 2 158,324,423 (GRCm39) critical splice donor site probably null
R7913:Ralgapb UTSW 2 158,307,859 (GRCm39) missense probably damaging 1.00
R7953:Ralgapb UTSW 2 158,307,803 (GRCm39) missense probably benign 0.10
R8245:Ralgapb UTSW 2 158,285,256 (GRCm39) missense probably damaging 0.96
R8337:Ralgapb UTSW 2 158,292,192 (GRCm39) missense probably benign 0.11
R8363:Ralgapb UTSW 2 158,268,119 (GRCm39) missense probably damaging 1.00
R8429:Ralgapb UTSW 2 158,268,217 (GRCm39) missense probably damaging 1.00
R8673:Ralgapb UTSW 2 158,292,133 (GRCm39) missense probably damaging 1.00
R8955:Ralgapb UTSW 2 158,337,389 (GRCm39) missense probably damaging 1.00
R8955:Ralgapb UTSW 2 158,279,264 (GRCm39) missense probably benign 0.05
R8992:Ralgapb UTSW 2 158,296,197 (GRCm39) missense probably damaging 1.00
R9013:Ralgapb UTSW 2 158,279,060 (GRCm39) missense probably damaging 1.00
R9141:Ralgapb UTSW 2 158,262,811 (GRCm39) missense possibly damaging 0.80
R9166:Ralgapb UTSW 2 158,274,842 (GRCm39) critical splice donor site probably null
R9242:Ralgapb UTSW 2 158,277,386 (GRCm39) missense probably benign 0.13
R9274:Ralgapb UTSW 2 158,278,539 (GRCm39) missense probably damaging 1.00
R9354:Ralgapb UTSW 2 158,279,313 (GRCm39) missense possibly damaging 0.90
R9454:Ralgapb UTSW 2 158,315,072 (GRCm39) missense probably benign 0.30
R9489:Ralgapb UTSW 2 158,268,283 (GRCm39) missense possibly damaging 0.89
R9490:Ralgapb UTSW 2 158,334,350 (GRCm39) missense probably benign 0.29
Z1177:Ralgapb UTSW 2 158,277,475 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACATACAATGCTTGGGTTGTG -3'
(R):5'- ACCCTGCTCCATTTTGTTAAAAGC -3'

Sequencing Primer
(F):5'- CAATGCTTGGGTTGTGGGAAAAATG -3'
(R):5'- TTAGCATACAAAAGCAGAATGCAG -3'
Posted On 2022-07-18