Incidental Mutation 'R9454:Ralgapb'
ID 714448
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 # R9454 (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 158315072 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 1146 (H1146Q)
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 possibly damaging
Transcript: ENSMUST00000046274
AA Change: H1130Q

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000048430
Gene: ENSMUSG00000027652
AA Change: H1130Q

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 benign
Transcript: ENSMUST00000109485
AA Change: H1146Q

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000105111
Gene: ENSMUSG00000027652
AA Change: H1146Q

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 possibly damaging
Transcript: ENSMUST00000109486
AA Change: H1134Q

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000105112
Gene: ENSMUSG00000027652
AA Change: H1134Q

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 possibly damaging
Transcript: ENSMUST00000141497
AA Change: H812Q

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000116481
Gene: ENSMUSG00000027652
AA Change: H812Q

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: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 G T 18: 61,952,067 (GRCm39) H431Q possibly damaging Het
Adam25 A T 8: 41,207,486 (GRCm39) I251F probably damaging Het
Ankrd31 A T 13: 96,916,842 (GRCm39) T119S probably damaging Het
Ankrd31 T C 13: 96,916,846 (GRCm39) V120A possibly damaging Het
Anks6 T C 4: 47,016,789 (GRCm39) E809G possibly damaging Het
Arhgap21 A T 2: 20,870,153 (GRCm39) S928T probably damaging Het
Arhgef10l G T 4: 140,308,236 (GRCm39) S39* probably null Het
Aspm G A 1: 139,408,732 (GRCm39) E2540K probably benign Het
Atp10a T C 7: 58,308,339 (GRCm39) I46T probably benign Het
Atp13a5 C A 16: 29,133,338 (GRCm39) V483L possibly damaging Het
BC028528 T C 3: 95,797,082 (GRCm39) D29G possibly damaging Het
Ccdc187 T A 2: 26,166,114 (GRCm39) T772S possibly damaging Het
Ccnh G A 13: 85,350,521 (GRCm39) A199T probably benign Het
Cfap65 A T 1: 74,944,210 (GRCm39) Y1504N probably damaging Het
Ckap2 C A 8: 22,665,899 (GRCm39) E383* probably null Het
Clec4n T C 6: 123,212,532 (GRCm39) V116A possibly damaging Het
Cmc2 G T 8: 117,616,550 (GRCm39) D58E unknown Het
Cntn6 A G 6: 104,781,308 (GRCm39) K465E possibly damaging Het
Col6a6 G A 9: 105,661,059 (GRCm39) A350V probably damaging Het
Cps1 A G 1: 67,219,311 (GRCm39) I884V probably damaging Het
E2f7 C T 10: 110,620,542 (GRCm39) A853V probably benign Het
E330034G19Rik A T 14: 24,346,860 (GRCm39) Q114L unknown Het
Egfr G T 11: 16,837,155 (GRCm39) G632V probably damaging Het
Fam98b T C 2: 117,080,250 (GRCm39) M1T probably null Het
Fcgr2b T A 1: 170,788,657 (GRCm39) I317F probably damaging Het
Galntl6 T C 8: 58,411,435 (GRCm39) D265G probably damaging Het
Gm4922 A G 10: 18,660,329 (GRCm39) L131P probably damaging Het
H1f7 T C 15: 98,154,823 (GRCm39) I109V probably benign Het
H2-Q1 A T 17: 35,540,349 (GRCm39) I145F probably damaging Het
Heatr5a AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA 12: 51,934,702 (GRCm39) probably benign Het
Ica1 A T 6: 8,667,288 (GRCm39) S293T probably benign Het
Ift70a2 T A 2: 75,806,812 (GRCm39) I567F probably benign Het
Klra5 C A 6: 129,883,686 (GRCm39) W147L possibly damaging Het
Magi2 G T 5: 20,671,176 (GRCm39) V507F probably damaging Het
Malrd1 G A 2: 15,802,537 (GRCm39) W1083* probably null Het
Malrd1 T C 2: 15,757,660 (GRCm39) I978T unknown Het
Mgarp T C 3: 51,303,902 (GRCm39) T10A probably damaging Het
Mtnr1a A G 8: 45,538,612 (GRCm39) I17V Het
Muc5ac C T 7: 141,362,431 (GRCm39) T1914I unknown Het
Naf1 GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC 8: 67,313,200 (GRCm39) probably benign Het
Nav3 T C 10: 109,835,864 (GRCm39) T73A probably benign Het
Or4b1 A C 2: 89,979,820 (GRCm39) C177G probably damaging Het
Or8k21 A T 2: 86,145,178 (GRCm39) Y151N probably damaging Het
Pclo T A 5: 14,762,452 (GRCm39) S357T probably benign Het
Pkdrej T A 15: 85,702,420 (GRCm39) N1172I probably benign Het
Psmb9 G A 17: 34,402,078 (GRCm39) R173C probably benign Het
Raph1 T A 1: 60,528,753 (GRCm39) Q836L unknown Het
Rcc1 A G 4: 132,062,074 (GRCm39) S280P probably damaging Het
Recql T C 6: 142,320,617 (GRCm39) M144V possibly damaging Het
Rela T C 19: 5,695,368 (GRCm39) I298T probably damaging Het
Rfc1 T A 5: 65,431,774 (GRCm39) I792F Het
Rnf31 A G 14: 55,833,609 (GRCm39) E539G Het
Rrp9 T C 9: 106,360,840 (GRCm39) S274P possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Scmh1 A G 4: 120,372,276 (GRCm39) I360V probably benign Het
Sh3yl1 T C 12: 30,990,420 (GRCm39) probably null Het
Shisa9 T C 16: 11,802,523 (GRCm39) S27P probably benign Het
Slc17a4 A G 13: 24,085,910 (GRCm39) V359A probably benign Het
Slfn5 C A 11: 82,850,885 (GRCm39) A394E probably benign Het
Sun3 A G 11: 8,988,281 (GRCm39) F14L probably benign Het
Surf1 A T 2: 26,804,808 (GRCm39) D148E possibly damaging Het
Syne2 A T 12: 76,141,844 (GRCm39) K1388* probably null Het
Syne2 A G 12: 76,067,275 (GRCm39) K4325E probably damaging Het
Tacr1 A G 6: 82,531,853 (GRCm39) M250V probably damaging Het
Tenm2 T C 11: 36,112,286 (GRCm39) T420A probably benign Het
Tm7sf3 C A 6: 146,520,041 (GRCm39) A282S probably benign Het
Tmf1 T C 6: 97,155,866 (GRCm39) E40G probably benign Het
Tnfrsf12a A G 17: 23,895,491 (GRCm39) probably null Het
Unc80 C A 1: 66,734,749 (GRCm39) H3325Q possibly damaging Het
Vamp9 C T 5: 100,070,952 (GRCm39) P76S probably damaging Het
Zfp142 A G 1: 74,609,016 (GRCm39) L1593S probably damaging Het
Zfp869 T A 8: 70,159,241 (GRCm39) Y444F probably benign Het
Zscan10 G A 17: 23,826,619 (GRCm39) 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
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'- AACCTCAATTGTCTAAAGCAAGTAAA -3'
(R):5'- TTGTATGTTTATAGCACAGAAAGACG -3'

Sequencing Primer
(F):5'- CTTGATGTATGAACACACTCAAGGAC -3'
(R):5'- GACGGAAAGTTCAGAATCCTTAC -3'
Posted On 2022-06-15