Incidental Mutation 'R0077:Ralgapb'
ID 19454
Institutional Source Beutler Lab
Gene Symbol Ralgapb
Ensembl Gene ENSMUSG00000027652
Gene Name Ral GTPase activating protein, beta subunit (non-catalytic)
Synonyms B230339M05Rik
MMRRC Submission 038364-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0077 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 158251768-158341173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 158315169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 845 (Y845H)
Ref Sequence ENSEMBL: ENSMUSP00000116481 (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: Y1163H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048430
Gene: ENSMUSG00000027652
AA Change: Y1163H

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: Y1179H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105111
Gene: ENSMUSG00000027652
AA Change: Y1179H

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: Y1167H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105112
Gene: ENSMUSG00000027652
AA Change: Y1167H

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 noncoding transcript
Transcript: ENSMUST00000122256
Predicted Effect probably damaging
Transcript: ENSMUST00000141497
AA Change: Y845H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116481
Gene: ENSMUSG00000027652
AA Change: Y845H

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150420
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173458
Meta Mutation Damage Score 0.8874 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.4%
  • 20x: 90.5%
Validation Efficiency 83% (159/192)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 T C 5: 81,919,532 (GRCm39) probably benign Het
Adgrl4 A G 3: 151,223,418 (GRCm39) I624V probably damaging Het
AI661453 A G 17: 47,780,287 (GRCm39) probably benign Het
Alg12 C T 15: 88,700,181 (GRCm39) E60K probably damaging Het
Angel2 A T 1: 190,665,284 (GRCm39) N72Y possibly damaging Het
Ank1 C A 8: 23,630,183 (GRCm39) P81Q probably damaging Het
Atp6v1c2 A T 12: 17,371,613 (GRCm39) D61E probably damaging Het
Bpi T A 2: 158,103,254 (GRCm39) M83K probably damaging Het
Capn7 A G 14: 31,090,072 (GRCm39) I642V probably benign Het
Ccdc134 T C 15: 82,015,938 (GRCm39) probably benign Het
Ccr3 C T 9: 123,829,061 (GRCm39) T132I probably damaging Het
Cfap65 C A 1: 74,971,077 (GRCm39) W80C probably damaging Het
Chaf1a T A 17: 56,354,384 (GRCm39) I218K unknown Het
Ddx23 A G 15: 98,554,481 (GRCm39) probably null Het
Dmkn A G 7: 30,464,719 (GRCm39) S231G probably benign Het
Ep300 T C 15: 81,525,514 (GRCm39) I1446T unknown Het
Fmnl1 T C 11: 103,080,795 (GRCm39) F318S probably damaging Het
Grik5 A T 7: 24,722,805 (GRCm39) V497E probably damaging Het
Gtf2ird2 T C 5: 134,242,925 (GRCm39) Y380H probably damaging Het
Hecw2 C T 1: 53,907,990 (GRCm39) probably benign Het
Hspb7 A G 4: 141,151,358 (GRCm39) I167V probably damaging Het
Kcnh2 T A 5: 24,527,700 (GRCm39) N884I probably benign Het
Krba1 T C 6: 48,382,159 (GRCm39) probably benign Het
Krt18 G T 15: 101,939,409 (GRCm39) R294L probably benign Het
Lctl T A 9: 64,029,389 (GRCm39) M1K probably null Het
Lingo2 G A 4: 35,708,375 (GRCm39) S535F possibly damaging Het
Lrba A C 3: 86,449,995 (GRCm39) N2105H probably damaging Het
Lrrc10 A G 10: 116,881,419 (GRCm39) D31G probably damaging Het
Lrrtm1 T A 6: 77,220,855 (GRCm39) V104E probably damaging Het
Mgat3 C T 15: 80,096,778 (GRCm39) T535I probably benign Het
Nav3 T C 10: 109,552,503 (GRCm39) I1780V possibly damaging Het
Nlrc4 A G 17: 74,753,826 (GRCm39) W186R probably damaging Het
Nr2c1 T A 10: 94,024,117 (GRCm39) F441I probably benign Het
Obscn A G 11: 58,942,347 (GRCm39) probably benign Het
Or1p1 T C 11: 74,179,501 (GRCm39) F10L probably benign Het
Or2a56 T C 6: 42,932,707 (GRCm39) S92P probably benign Het
Or56b34 T C 7: 104,937,726 (GRCm39) V142A probably damaging Het
Or5au1 T C 14: 52,273,442 (GRCm39) N42S possibly damaging Het
Osr1 A T 12: 9,629,691 (GRCm39) Y188F probably damaging Het
Pak2 A T 16: 31,852,661 (GRCm39) N293K possibly damaging Het
Pappa A T 4: 65,226,049 (GRCm39) T1301S probably damaging Het
Pde4dip G A 3: 97,660,442 (GRCm39) Q679* probably null Het
Pik3r5 T A 11: 68,377,448 (GRCm39) probably null Het
Plbd2 C T 5: 120,624,104 (GRCm39) probably null Het
Ppp1r3a G T 6: 14,754,516 (GRCm39) P244T possibly damaging Het
Pum1 C A 4: 130,499,985 (GRCm39) R960S probably benign Het
Rbms1 A T 2: 60,589,179 (GRCm39) M287K possibly damaging Het
Rdh1 A T 10: 127,595,906 (GRCm39) I34F probably damaging Het
Rgl3 T A 9: 21,885,398 (GRCm39) Q644L probably benign Het
Rpap2 T C 5: 107,768,340 (GRCm39) S393P probably damaging Het
Rsad2 T C 12: 26,506,376 (GRCm39) S15G probably damaging Het
Rspo1 G A 4: 124,885,190 (GRCm39) R22Q probably benign Het
S100a11 A C 3: 93,431,509 (GRCm39) probably null Het
Septin4 T C 11: 87,472,022 (GRCm39) S11P probably benign Het
Serpina1c T C 12: 103,862,350 (GRCm39) S322G probably benign Het
Setdb1 A T 3: 95,248,762 (GRCm39) C385S probably damaging Het
Shank2 A T 7: 143,746,204 (GRCm39) I193F possibly damaging Het
Slc4a11 G T 2: 130,528,221 (GRCm39) probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Tbcd C A 11: 121,485,100 (GRCm39) Q761K probably benign Het
Tmed6 C T 8: 107,792,198 (GRCm39) V16M probably damaging Het
Tmem229a T C 6: 24,955,701 (GRCm39) T18A probably benign Het
Tsc1 T A 2: 28,568,955 (GRCm39) probably benign Het
Ube2m T C 7: 12,769,657 (GRCm39) N49D probably damaging Het
Ubqlnl T C 7: 103,799,254 (GRCm39) D81G probably damaging Het
Vmn2r56 A G 7: 12,449,332 (GRCm39) V302A probably benign Het
Vmn2r73 T A 7: 85,525,075 (GRCm39) R24S probably benign Het
Wfs1 C A 5: 37,130,538 (GRCm39) S236I probably damaging Het
Xpot A T 10: 121,441,544 (GRCm39) N560K probably benign Het
Yipf3 A G 17: 46,562,503 (GRCm39) T303A probably benign Het
Zfp790 T C 7: 29,524,300 (GRCm39) W19R probably damaging Het
Zfp846 T C 9: 20,505,303 (GRCm39) C388R probably benign Het
Zpr1 T A 9: 46,184,634 (GRCm39) I47N probably damaging 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
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
R9510:Ralgapb UTSW 2 158,285,856 (GRCm39) missense probably damaging 0.98
Z1177:Ralgapb UTSW 2 158,277,475 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCTTCTTCGTCTTCTGTGACAGGAAC -3'
(R):5'- AAGAAAGCCTGCTGCTCACTTCTATC -3'

Sequencing Primer
(F):5'- GGAACCTGCAAATAGTCGTCTAC -3'
(R):5'- GGAACTGTATAAGACTACTGTCCTCC -3'
Posted On 2013-04-11