Incidental Mutation 'R7236:Ralgapb'
ID 562804
Institutional Source Beutler Lab
Gene Symbol Ralgapb
Ensembl Gene ENSMUSG00000027652
Gene Name Ral GTPase activating protein, beta subunit (non-catalytic)
Synonyms B230339M05Rik
MMRRC Submission 045306-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7236 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 158251768-158341173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 158282747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 504 (D504G)
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 benign
Transcript: ENSMUST00000046274
AA Change: D492G

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000048430
Gene: ENSMUSG00000027652
AA Change: D492G

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: D504G

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000105111
Gene: ENSMUSG00000027652
AA Change: D504G

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 benign
Transcript: ENSMUST00000109486
AA Change: D492G

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000105112
Gene: ENSMUSG00000027652
AA Change: D492G

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 benign
Transcript: ENSMUST00000141497
AA Change: D192G

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000116481
Gene: ENSMUSG00000027652
AA Change: D192G

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
Meta Mutation Damage Score 0.0740 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (66/66)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 C T 19: 4,921,644 (GRCm39) V179I probably benign Het
Adra1b A G 11: 43,667,151 (GRCm39) I362T possibly damaging Het
B3galnt1 T C 3: 69,482,950 (GRCm39) K104E probably benign Het
Bnc2 T C 4: 84,474,101 (GRCm39) Y15C probably benign Het
C2cd2l C A 9: 44,228,960 (GRCm39) A124S possibly damaging Het
Camsap3 T A 8: 3,654,116 (GRCm39) F595L probably damaging Het
Cct2 A T 10: 116,897,464 (GRCm39) D93E probably benign Het
Cd200l2 A T 16: 45,348,030 (GRCm39) I169N possibly damaging Het
Cemip A T 7: 83,598,012 (GRCm39) probably null Het
Ciapin1 T C 8: 95,550,338 (GRCm39) T34A Het
Dop1a G A 9: 86,397,431 (GRCm39) V912I probably damaging Het
Efcab3 A T 11: 104,790,093 (GRCm39) Q2832L probably benign Het
Eif3c T C 7: 126,151,495 (GRCm39) T610A possibly damaging Het
Ephb3 A G 16: 21,033,231 (GRCm39) R106G probably damaging Het
Ephx3 T A 17: 32,404,328 (GRCm39) probably null Het
Etv2 A T 7: 30,334,455 (GRCm39) S93T probably benign Het
Fbxo34 T A 14: 47,767,841 (GRCm39) D451E probably benign Het
Fmo9 A G 1: 166,504,140 (GRCm39) F141L probably damaging Het
Fryl T C 5: 73,265,821 (GRCm39) K500R possibly damaging Het
Gfra3 T C 18: 34,828,884 (GRCm39) D170G probably damaging Het
Gnptg T C 17: 25,458,897 (GRCm39) N34S possibly damaging Het
Golga5 T A 12: 102,441,034 (GRCm39) probably null Het
Herc2 G T 7: 55,734,828 (GRCm39) L139F probably benign Het
Ikzf2 T A 1: 69,578,240 (GRCm39) N423I probably benign Het
Il31ra A T 13: 112,660,439 (GRCm39) *717R probably null Het
Itga2 G T 13: 115,014,227 (GRCm39) Q234K probably benign Het
Kcnt1 A T 2: 25,799,951 (GRCm39) probably null Het
Kif19b G T 5: 140,457,400 (GRCm39) A390S probably benign Het
Man2a2 T C 7: 80,018,653 (GRCm39) S69G probably damaging Het
Mccc1 A G 3: 36,037,944 (GRCm39) V294A probably benign Het
Mphosph8 T A 14: 56,911,754 (GRCm39) I259K possibly damaging Het
Mrpl15 A T 1: 4,846,711 (GRCm39) N288K probably benign Het
Msantd2 T C 9: 37,400,965 (GRCm39) W116R probably damaging Het
Msantd5f9 G T 4: 73,835,808 (GRCm39) L219M probably benign Het
Mtmr10 T C 7: 63,963,932 (GRCm39) probably benign Het
Mylk A T 16: 34,742,899 (GRCm39) D1137V probably damaging Het
Nhsl1 A G 10: 18,401,512 (GRCm39) K879E probably damaging Het
Or8j3c A T 2: 86,253,533 (GRCm39) C162* probably null Het
Pak6 A G 2: 118,523,909 (GRCm39) T355A probably benign Het
Patj C T 4: 98,299,294 (GRCm39) R139C probably damaging Het
Pcdhb3 C T 18: 37,434,505 (GRCm39) A157V probably damaging Het
Phkg1 C A 5: 129,895,802 (GRCm39) D150Y probably damaging Het
Ppp2r5c C T 12: 110,432,323 (GRCm39) S45L probably benign Het
Prl4a1 A C 13: 28,202,556 (GRCm39) T44P probably benign Het
Ptpro G A 6: 137,345,335 (GRCm39) V114M probably damaging Het
Pwp1 A G 10: 85,715,147 (GRCm39) N211S probably benign Het
Rock2 A T 12: 16,979,003 (GRCm39) I98F probably damaging Het
Senp6 G T 9: 80,040,247 (GRCm39) V785L probably damaging Het
Simc1 A G 13: 54,672,609 (GRCm39) D319G probably benign Het
Tas2r105 A T 6: 131,663,723 (GRCm39) I235N probably damaging Het
Tas2r110 A T 6: 132,845,667 (GRCm39) M233L possibly damaging Het
Tmem260 C T 14: 48,746,647 (GRCm39) probably null Het
Trank1 G T 9: 111,202,142 (GRCm39) V1590L possibly damaging Het
Tsc2 A T 17: 24,842,568 (GRCm39) M286K possibly damaging Het
Ttn T C 2: 76,697,796 (GRCm39) T202A Het
Ttyh1 A G 7: 4,136,663 (GRCm39) N424D probably benign Het
Usp24 T A 4: 106,263,502 (GRCm39) probably null Het
Utp20 G T 10: 88,585,204 (GRCm39) P2620Q probably benign Het
Vmn1r45 A G 6: 89,910,133 (GRCm39) M279T probably benign Het
Vmn2r115 T A 17: 23,578,576 (GRCm39) I683K probably benign Het
Vmn2r34 T C 7: 7,684,750 (GRCm39) K481E probably damaging Het
Vmn2r54 T A 7: 12,365,917 (GRCm39) H339L possibly damaging Het
Vmn2r94 T A 17: 18,477,811 (GRCm39) N200I possibly damaging Het
Wdfy3 A G 5: 101,984,074 (GRCm39) Y3493H probably damaging Het
Wdr5b A G 16: 35,862,208 (GRCm39) D109G possibly damaging Het
Zfp286 A T 11: 62,674,496 (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
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'- TTCAAAGAAGATATCAGAGAGCCC -3'
(R):5'- TGGCTTATTGATTTAGCCATGCC -3'

Sequencing Primer
(F):5'- ATGACATAGTTGCTAACCAAAGC -3'
(R):5'- GCCATGCCACAATAGTATTTTACC -3'
Posted On 2019-06-26