Incidental Mutation 'R7108:Ralgapb'
ID 551298
Institutional Source Beutler Lab
Gene Symbol Ralgapb
Ensembl Gene ENSMUSG00000027652
Gene Name Ral GTPase activating protein, beta subunit (non-catalytic)
Synonyms B230339M05Rik
MMRRC Submission 045200-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7108 (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 C at 158334380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 1364 (Y1364H)
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: Y1348H

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000048430
Gene: ENSMUSG00000027652
AA Change: Y1348H

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: Y1364H

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105111
Gene: ENSMUSG00000027652
AA Change: Y1364H

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: Y1352H

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105112
Gene: ENSMUSG00000027652
AA Change: Y1352H

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: Y1030H

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116481
Gene: ENSMUSG00000027652
AA Change: Y1030H

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T C 11: 58,771,750 (GRCm39) S411P probably damaging Het
4930503L19Rik A T 18: 70,601,547 (GRCm39) Y112N probably benign Het
Abcd2 A T 15: 91,075,477 (GRCm39) V112E probably benign Het
Acadm A T 3: 153,631,437 (GRCm39) Y353* probably null Het
Adra2c A G 5: 35,437,342 (GRCm39) D38G probably benign Het
Ankrd10 C T 8: 11,662,624 (GRCm39) G370R probably damaging Het
Arfgef2 T A 2: 166,715,528 (GRCm39) N1324K possibly damaging Het
Atp6v1b2 A G 8: 69,555,153 (GRCm39) T172A probably damaging Het
Bloc1s1 T A 10: 128,758,592 (GRCm39) K22M possibly damaging Het
Brpf3 A G 17: 29,036,099 (GRCm39) T599A probably benign Het
Cacna1e TTCCAGTCTC TTC 1: 154,344,741 (GRCm39) probably null Het
Ccdc186 T C 19: 56,787,192 (GRCm39) D592G probably damaging Het
Cfap161 A T 7: 83,442,518 (GRCm39) D98E possibly damaging Het
Cfi G A 3: 129,668,665 (GRCm39) V564M probably damaging Het
Cilp2 T A 8: 70,333,779 (GRCm39) Q1073L probably damaging Het
Cox6b1 A G 7: 30,322,929 (GRCm39) C40R possibly damaging Het
Cyp3a59 A T 5: 146,033,143 (GRCm39) M172L probably benign Het
Cyth1 T C 11: 118,073,739 (GRCm39) D198G probably damaging Het
Daam2 T C 17: 49,767,702 (GRCm39) D963G probably damaging Het
Ddi2 A T 4: 141,433,248 (GRCm39) D209E probably benign Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
Dnai7 G A 6: 145,131,591 (GRCm39) Q351* probably null Het
Dpagt1 G T 9: 44,238,318 (GRCm39) probably benign Het
Drc3 T A 11: 60,261,380 (GRCm39) F177Y probably benign Het
Dsg2 T C 18: 20,734,920 (GRCm39) V966A probably damaging Het
E4f1 A G 17: 24,663,552 (GRCm39) V633A probably damaging Het
Eif2ak2 T A 17: 79,165,965 (GRCm39) R411* probably null Het
Frem2 T C 3: 53,560,934 (GRCm39) E1191G probably damaging Het
Fry T C 5: 150,319,251 (GRCm39) V972A probably damaging Het
Fry T A 5: 150,414,555 (GRCm39) C467S Het
Fscn1 T C 5: 142,946,270 (GRCm39) Y23H probably damaging Het
Gm16506 T A 14: 43,961,759 (GRCm39) I163F Het
Gm21103 T C 14: 17,484,768 (GRCm39) Y92C probably damaging Het
Golgb1 A G 16: 36,734,083 (GRCm39) H1151R probably benign Het
Gprc5c T C 11: 114,755,108 (GRCm39) Y262H probably damaging Het
Hc G T 2: 34,929,706 (GRCm39) N245K probably benign Het
Hps6 T A 19: 45,993,929 (GRCm39) L622Q probably damaging Het
Hsd17b1 T C 11: 100,970,035 (GRCm39) Y156H probably damaging Het
Ireb2 T A 9: 54,813,925 (GRCm39) F799L probably damaging Het
Irf1 A G 11: 53,665,238 (GRCm39) D205G probably damaging Het
Kif12 A T 4: 63,089,442 (GRCm39) F103L probably benign Het
Krt12 C T 11: 99,306,878 (GRCm39) V475M unknown Het
Lca5 T A 9: 83,305,222 (GRCm39) T195S probably benign Het
Lrrc17 T C 5: 21,780,337 (GRCm39) V437A possibly damaging Het
Malt1 G T 18: 65,597,122 (GRCm39) D468Y probably damaging Het
Man2b2 C T 5: 36,972,829 (GRCm39) A562T probably benign Het
Mrc1 C T 2: 14,308,957 (GRCm39) Q794* probably null Het
Muc16 T A 9: 18,566,529 (GRCm39) I1997L unknown Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,214,363 (GRCm39) probably null Het
Mycbp2 A T 14: 103,360,039 (GRCm39) F4518Y probably damaging Het
Myo5a T A 9: 75,037,274 (GRCm39) I159N probably damaging Het
Nat1 T C 8: 67,943,672 (GRCm39) V19A probably benign Het
Ndst4 A G 3: 125,355,120 (GRCm39) T343A probably damaging Het
Nlrp9b A T 7: 19,779,855 (GRCm39) L839F probably damaging Het
Nxnl1 A G 8: 72,019,198 (GRCm39) I9T probably benign Het
Odr4 T C 1: 150,258,041 (GRCm39) Y198C probably benign Het
Or1l4b C T 2: 37,036,272 (GRCm39) T16I probably benign Het
Or2ag12 G A 7: 106,277,255 (GRCm39) A146V probably benign Het
Or2t49 T A 11: 58,393,380 (GRCm39) M7L probably benign Het
Or52b4i A T 7: 102,191,199 (GRCm39) I19F probably damaging Het
Or7a35 C A 10: 78,853,483 (GRCm39) S109* probably null Het
Pou5f2 T C 13: 78,173,384 (GRCm39) S109P possibly damaging Het
Prkcz G A 4: 155,371,250 (GRCm39) Q321* probably null Het
Prr18 G T 17: 8,560,363 (GRCm39) R173L probably damaging Het
Sacs T A 14: 61,448,458 (GRCm39) Y3501* probably null Het
Sall3 G A 18: 81,016,969 (GRCm39) P320S probably benign Het
Scn8a A T 15: 100,937,659 (GRCm39) H1676L probably benign Het
Shmt1 T C 11: 60,689,470 (GRCm39) D178G probably damaging Het
Slmap T C 14: 26,143,676 (GRCm39) K737R probably benign Het
Ssh2 G A 11: 77,345,620 (GRCm39) V1202I probably benign Het
Stard7 A G 2: 127,137,414 (GRCm39) D288G possibly damaging Het
Tek A T 4: 94,741,724 (GRCm39) D827V probably damaging Het
Tfap2e A G 4: 126,614,356 (GRCm39) L276P probably damaging Het
Tns3 T C 11: 8,387,251 (GRCm39) N1312S probably benign Het
Tubd1 T A 11: 86,448,631 (GRCm39) S315T probably damaging Het
Ube2f T A 1: 91,192,941 (GRCm39) C50* probably null Het
Vmn2r109 T C 17: 20,785,006 (GRCm39) I5V probably benign Het
Vmn2r39 T C 7: 9,026,667 (GRCm39) T445A probably damaging Het
Zfp764l1 A G 7: 126,990,695 (GRCm39) S431P probably benign 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
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'- TGGCTTTGGTGACATAAACACATC -3'
(R):5'- GCTGAGGTTCTAACATTGCTTACAC -3'

Sequencing Primer
(F):5'- TGGTGACATAAACACATCACTAATC -3'
(R):5'- GGTTCTAACATTGCTTACACAAAAAC -3'
Posted On 2019-05-15