Incidental Mutation 'R6458:Ralgapb'
ID 517417
Institutional Source Beutler Lab
Gene Symbol Ralgapb
Ensembl Gene ENSMUSG00000027652
Gene Name Ral GTPase activating protein, beta subunit (non-catalytic)
Synonyms B230339M05Rik
MMRRC Submission 044593-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6458 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 158251768-158341173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 158286540 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 328 (D328E)
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: D650E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000048430
Gene: ENSMUSG00000027652
AA Change: D650E

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: D662E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105111
Gene: ENSMUSG00000027652
AA Change: D662E

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: D650E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105112
Gene: ENSMUSG00000027652
AA Change: D650E

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: D328E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000116481
Gene: ENSMUSG00000027652
AA Change: D328E

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: ENSMUST00000143394
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173137
Meta Mutation Damage Score 0.0823 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 97.8%
  • 20x: 92.3%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot8 A G 2: 164,646,655 (GRCm39) V28A possibly damaging Het
Ak1 T A 2: 32,520,385 (GRCm39) M61K probably damaging Het
Akap12 T C 10: 4,305,148 (GRCm39) S653P probably damaging Het
Anapc4 G A 5: 53,021,895 (GRCm39) R659H possibly damaging Het
Arel1 T C 12: 84,987,159 (GRCm39) N86D possibly damaging Het
Bco1 A G 8: 117,854,245 (GRCm39) D390G possibly damaging Het
Ccr1l1 A T 9: 123,778,203 (GRCm39) D81E probably damaging Het
Chd1 A T 17: 15,950,864 (GRCm39) N185I probably benign Het
Clca4b T G 3: 144,617,088 (GRCm39) N854T possibly damaging Het
Col4a4 T C 1: 82,433,546 (GRCm39) T1466A unknown Het
Cxcr4 T C 1: 128,516,831 (GRCm39) I277V probably benign Het
Dgkq A G 5: 108,802,242 (GRCm39) V441A possibly damaging Het
Dnah10 G T 5: 124,886,333 (GRCm39) L3030F probably damaging Het
Epg5 T A 18: 77,991,469 (GRCm39) D55E probably benign Het
Ermap A T 4: 119,035,337 (GRCm39) N550K probably damaging Het
Fnbp1l A T 3: 122,350,089 (GRCm39) I374N probably damaging Het
Gadl1 T A 9: 115,870,070 (GRCm39) *479K probably null Het
Gm5591 T A 7: 38,218,459 (GRCm39) T805S probably damaging Het
H2-T3 A T 17: 36,497,911 (GRCm39) M334K possibly damaging Het
Ihh C T 1: 74,985,601 (GRCm39) A295T probably damaging Het
Il18r1 T A 1: 40,530,342 (GRCm39) Y356* probably null Het
Lingo3 A G 10: 80,671,150 (GRCm39) V260A probably damaging Het
Lrp2 T G 2: 69,335,500 (GRCm39) M1408L probably benign Het
Mical1 C A 10: 41,360,731 (GRCm39) H657N probably benign Het
Mpp2 T A 11: 101,971,595 (GRCm39) M12L probably benign Het
Muc16 A T 9: 18,553,017 (GRCm39) D4425E probably benign Het
Muc4 T A 16: 32,579,694 (GRCm39) probably null Het
Myt1l T A 12: 29,945,298 (GRCm39) F1021Y unknown Het
Nbas T C 12: 13,338,750 (GRCm39) S197P probably damaging Het
Nckap1 T C 2: 80,342,893 (GRCm39) probably null Het
Nek1 T G 8: 61,553,046 (GRCm39) V903G probably benign Het
Or14c43 A G 7: 86,114,888 (GRCm39) I90V probably damaging Het
Or1e18-ps1 T G 11: 73,279,517 (GRCm39) S112R probably damaging Het
Or4p22 T A 2: 88,317,562 (GRCm39) I162N possibly damaging Het
Or8b40 T C 9: 38,027,350 (GRCm39) V91A possibly damaging Het
Ppm1j T C 3: 104,688,560 (GRCm39) V53A probably benign Het
Rgma T A 7: 73,059,442 (GRCm39) V88E probably damaging Het
Slc30a6 A G 17: 74,730,108 (GRCm39) T333A probably damaging Het
Spr T C 6: 85,114,039 (GRCm39) probably null Het
Srek1 A T 13: 103,880,076 (GRCm39) V494E probably benign Het
Ston1 A T 17: 88,942,731 (GRCm39) T46S probably benign Het
Stox2 T C 8: 47,645,079 (GRCm39) K858E possibly damaging Het
Thoc1 G A 18: 9,993,333 (GRCm39) R564Q probably benign Het
Thoc2l A T 5: 104,670,169 (GRCm39) I1564L probably benign Het
Tmc5 T A 7: 118,244,539 (GRCm39) N472K probably damaging Het
Ttc41 A G 10: 86,594,134 (GRCm39) T856A possibly damaging Het
Ttn A T 2: 76,608,854 (GRCm39) W17721R probably damaging Het
Vmn1r69 A G 7: 10,314,365 (GRCm39) I43T probably benign Het
Vmn2r56 T A 7: 12,427,984 (GRCm39) I761F probably damaging Het
Zfp109 T C 7: 23,927,870 (GRCm39) D521G probably benign Het
Zfp516 A G 18: 83,005,475 (GRCm39) H793R probably benign Het
Zfp800 A T 6: 28,244,215 (GRCm39) I250N probably damaging Het
Zpbp T A 11: 11,358,538 (GRCm39) Y243F 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
R6364:Ralgapb UTSW 2 158,304,029 (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'- TGTCATGGCTTACTGCTCATG -3'
(R):5'- ATGCCTGGGATCCTTAGTACC -3'

Sequencing Primer
(F):5'- GACTAAAGATGTCTGACTACAGGTC -3'
(R):5'- GGATCCTTAGTACCTGGGTTTCAC -3'
Posted On 2018-05-21