Incidental Mutation 'R6364:Ralgapb'
ID 513384
Institutional Source Beutler Lab
Gene Symbol Ralgapb
Ensembl Gene ENSMUSG00000027652
Gene Name Ral GTPase activating protein, beta subunit (non-catalytic)
Synonyms B230339M05Rik
MMRRC Submission 044514-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6364 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 158251768-158341173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 158304029 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 596 (G596V)
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: G914V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048430
Gene: ENSMUSG00000027652
AA Change: G914V

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: G930V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105111
Gene: ENSMUSG00000027652
AA Change: G930V

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: G918V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105112
Gene: ENSMUSG00000027652
AA Change: G918V

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: G596V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116481
Gene: ENSMUSG00000027652
AA Change: G596V

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
Meta Mutation Damage Score 0.5944 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 99% (69/70)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T C 5: 89,869,673 (GRCm39) Y234C possibly damaging Het
Ambra1 C A 2: 91,603,661 (GRCm39) H548Q possibly damaging Het
Ap3d1 T C 10: 80,546,328 (GRCm39) probably null Het
Apol11b A G 15: 77,522,258 (GRCm39) V13A possibly damaging Het
Arhgdib C T 6: 136,909,253 (GRCm39) probably null Het
B3galt1 T A 2: 67,949,016 (GRCm39) S244T probably damaging Het
Bace2 A G 16: 97,214,633 (GRCm39) I274V probably benign Het
Bfsp2 A T 9: 103,325,827 (GRCm39) V272D probably damaging Het
Blm A T 7: 80,144,274 (GRCm39) C782* probably null Het
Cfi G A 3: 129,666,495 (GRCm39) S406N probably benign Het
Chd1l G A 3: 97,494,483 (GRCm39) A399V probably damaging Het
Cic C A 7: 24,972,248 (GRCm39) H660N possibly damaging Het
Cops3 A G 11: 59,726,230 (GRCm39) probably benign Het
Dlec1 G A 9: 118,950,939 (GRCm39) V502I possibly damaging Het
Dync2i1 A T 12: 116,205,352 (GRCm39) D412E probably damaging Het
Epop A G 11: 97,519,513 (GRCm39) S199P probably benign Het
Evi5 G T 5: 107,989,979 (GRCm39) P80Q probably damaging Het
Faf1 T C 4: 109,818,997 (GRCm39) V623A possibly damaging Het
Fam83c T C 2: 155,676,443 (GRCm39) D109G probably damaging Het
Fam83d T C 2: 158,625,179 (GRCm39) probably null Het
Flacc1 G T 1: 58,697,531 (GRCm39) A403D probably damaging Het
Foxn3 T C 12: 99,354,952 (GRCm39) N71D probably benign Het
Gm7298 A G 6: 121,756,402 (GRCm39) R1016G possibly damaging Het
Grin2d T C 7: 45,507,878 (GRCm39) E396G possibly damaging Het
Htra2 C A 6: 83,030,027 (GRCm39) V311F probably damaging Het
Kif6 A T 17: 49,927,651 (GRCm39) T33S probably benign Het
Kmt2c T C 5: 25,514,634 (GRCm39) I3070V probably null Het
Krtap5-2 A T 7: 141,728,800 (GRCm39) C293* probably null Het
Lrp3 T A 7: 34,903,134 (GRCm39) D404V probably benign Het
LTO1 A G 7: 144,473,005 (GRCm39) D105G probably benign Het
Mc2r T G 18: 68,540,607 (GRCm39) I229L probably benign Het
Mtnr1b A G 9: 15,774,300 (GRCm39) M253T possibly damaging Het
Nfat5 A G 8: 108,094,909 (GRCm39) N531S probably benign Het
Niban3 G A 8: 72,051,733 (GRCm39) G23S probably benign Het
Npr2 T A 4: 43,643,622 (GRCm39) I550N probably damaging Het
Npy6r T C 18: 44,409,578 (GRCm39) I333T possibly damaging Het
Nup88 C T 11: 70,838,612 (GRCm39) R468Q probably benign Het
Nup98 G A 7: 101,825,522 (GRCm39) T422I probably damaging Het
Or10aa1 T A 1: 173,869,778 (GRCm39) H87Q possibly damaging Het
Otud4 A G 8: 80,372,970 (GRCm39) N96S probably damaging Het
Paqr6 T C 3: 88,273,265 (GRCm39) F86L probably damaging Het
Ppp4r3b A T 11: 29,138,035 (GRCm39) T90S probably benign Het
Ptbp2 A T 3: 119,534,091 (GRCm39) N23K probably damaging Het
Rdm1 G A 11: 101,521,068 (GRCm39) R94H probably benign Het
Rergl A T 6: 139,477,746 (GRCm39) F28I probably damaging Het
Rif1 G T 2: 51,997,681 (GRCm39) S1000I probably damaging Het
Rnf141 C T 7: 110,420,516 (GRCm39) A163T possibly damaging Het
Scaf4 G A 16: 90,057,136 (GRCm39) Q72* probably null Het
Sdk1 G T 5: 141,948,464 (GRCm39) S603I probably benign Het
Sdsl T C 5: 120,598,674 (GRCm39) I147M probably damaging Het
Serpina6 T C 12: 103,620,495 (GRCm39) N85D probably benign Het
Serpinf2 A G 11: 75,327,315 (GRCm39) I204T probably damaging Het
Shank2 A G 7: 143,964,146 (GRCm39) S795G probably benign Het
Simc1 C T 13: 54,672,413 (GRCm39) Q254* probably null Het
Slc30a3 G A 5: 31,246,083 (GRCm39) P216S possibly damaging Het
Smim14 T A 5: 65,610,639 (GRCm39) I53F probably benign Het
Sp3 T C 2: 72,801,285 (GRCm39) T243A probably benign Het
Srpk2 A G 5: 23,745,465 (GRCm39) F164L probably damaging Het
Stard9 T C 2: 120,543,910 (GRCm39) F4403L probably damaging Het
Tbc1d30 T C 10: 121,130,630 (GRCm39) T267A possibly damaging Het
Tgm7 T A 2: 120,926,878 (GRCm39) R424* probably null Het
Tmbim6 T C 15: 99,304,066 (GRCm39) L113P probably damaging Het
Tmcc1 G A 6: 116,020,722 (GRCm39) probably benign Het
Tomm7 A G 5: 24,049,028 (GRCm39) L15P probably damaging Het
Tpcn1 T C 5: 120,691,875 (GRCm39) Y263C probably damaging Het
Trim34b T C 7: 103,985,733 (GRCm39) F456S probably damaging Het
Uox C T 3: 146,330,332 (GRCm39) R163* probably null Het
Vmn2r108 A G 17: 20,691,260 (GRCm39) I421T probably benign Het
Wdr43 A G 17: 71,964,649 (GRCm39) E676G probably damaging Het
Zcchc14 G T 8: 122,331,598 (GRCm39) probably benign Het
Zfp64 C A 2: 168,754,186 (GRCm39) G25V probably damaging Het
Zswim8 C A 14: 20,763,079 (GRCm39) P326H 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
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
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'- TGCAGGTTCTACCCAGCATG -3'
(R):5'- GAACTGAGAACACACTGTTTGAG -3'

Sequencing Primer
(F):5'- TGCCACAGGGAGTATATCTGACTC -3'
(R):5'- CTGAGAACACACTGTTTGAGCAGTAG -3'
Posted On 2018-04-27