Incidental Mutation 'R8955:Ralgapb'
ID 681903
Institutional Source Beutler Lab
Gene Symbol Ralgapb
Ensembl Gene ENSMUSG00000027652
Gene Name Ral GTPase activating protein, beta subunit (non-catalytic)
Synonyms B230339M05Rik
MMRRC Submission 068791-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8955 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 158251768-158341173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 158337389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Arginine at position 1116 (T1116R)
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: T1434R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048430
Gene: ENSMUSG00000027652
AA Change: T1434R

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: T1450R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105111
Gene: ENSMUSG00000027652
AA Change: T1450R

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
SMART Domains Protein: ENSMUSP00000105112
Gene: ENSMUSG00000027652
AA Change: T1438R

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: T1116R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116481
Gene: ENSMUSG00000027652
AA Change: T1116R

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: 99.6%
  • 20x: 98.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 C T 15: 64,576,554 (GRCm39) V1003I possibly damaging Het
Adgra3 T A 5: 50,118,731 (GRCm39) Y939F probably benign Het
Adra2b T C 2: 127,205,504 (GRCm39) V2A probably benign Het
Aga T A 8: 53,974,164 (GRCm39) Y296N possibly damaging Het
Apc A G 18: 34,401,370 (GRCm39) Q52R probably damaging Het
Arfgef1 A T 1: 10,270,062 (GRCm39) S362R probably benign Het
Arhgef7 C T 8: 11,808,451 (GRCm39) probably benign Het
Bmp5 A T 9: 75,805,835 (GRCm39) M446L probably damaging Het
Carmil3 C T 14: 55,733,534 (GRCm39) T350I probably damaging Het
Cd44 T A 2: 102,683,363 (GRCm39) T224S probably damaging Het
Cep112 A T 11: 108,643,260 (GRCm39) I7F possibly damaging Het
Chrna2 G A 14: 66,379,681 (GRCm39) A7T probably benign Het
Cldn16 G A 16: 26,301,270 (GRCm39) V193I probably benign Het
Clec4a3 G A 6: 122,943,479 (GRCm39) E100K possibly damaging Het
Cntln C T 4: 84,986,110 (GRCm39) T1026I possibly damaging Het
Cyp4v3 T A 8: 45,761,564 (GRCm39) I420F probably benign Het
Dcbld2 G A 16: 58,271,125 (GRCm39) A301T Het
Dnah1 A T 14: 31,007,950 (GRCm39) D2152E probably benign Het
Dpy19l4 A G 4: 11,290,195 (GRCm39) V179A probably benign Het
Dusp4 T A 8: 35,284,462 (GRCm39) I259N probably damaging Het
Enpp1 T A 10: 24,544,926 (GRCm39) I318F probably benign Het
Entpd6 T C 2: 150,595,005 (GRCm39) V15A possibly damaging Het
Epb41l1 C G 2: 156,363,923 (GRCm39) Q811E probably benign Het
Epb41l5 T C 1: 119,570,292 (GRCm39) H32R probably damaging Het
Fam135b C T 15: 71,334,063 (GRCm39) V1044I possibly damaging Het
Fat4 A T 3: 39,037,778 (GRCm39) H3810L probably benign Het
Fbxw28 T A 9: 109,167,857 (GRCm39) probably null Het
Flnb T G 14: 7,892,874 (GRCm38) V648G probably damaging Het
Flnb T A 14: 7,904,688 (GRCm38) Y1030* probably null Het
Fndc3a T C 14: 72,794,410 (GRCm39) T787A probably benign Het
Gli2 T A 1: 118,783,187 (GRCm39) H106L probably damaging Het
Gm10283 T A 8: 60,954,390 (GRCm39) probably null Het
Gm3336 C T 8: 71,174,545 (GRCm39) R67* probably null Het
Gsr T G 8: 34,183,936 (GRCm39) I399M possibly damaging Het
Gtf2ird2 T A 5: 134,245,596 (GRCm39) M618K probably damaging Het
Gtf3c3 T A 1: 54,462,722 (GRCm39) D347V probably benign Het
Hspa12a T C 19: 58,788,058 (GRCm39) Y588C probably damaging Het
Il20ra A G 10: 19,635,160 (GRCm39) E467G possibly damaging Het
Inf2 A G 12: 112,576,998 (GRCm39) I991V unknown Het
Irag2 A T 6: 145,117,390 (GRCm39) M376L probably benign Het
Irx6 T C 8: 93,405,040 (GRCm39) C303R probably damaging Het
Kcnmb4 T A 10: 116,309,381 (GRCm39) K16* probably null Het
Kirrel3 T C 9: 34,855,738 (GRCm39) L86P probably damaging Het
Lipo5 A C 19: 33,450,530 (GRCm39) F21V Het
Lrrc31 T A 3: 30,733,267 (GRCm39) R482S probably benign Het
Lrrc3b C T 14: 15,358,159 (GRCm38) C149Y probably damaging Het
Lrrk1 A G 7: 65,919,573 (GRCm39) M446T probably benign Het
Macroh2a2 A T 10: 61,593,610 (GRCm39) I22N probably damaging Het
Mettl14 C T 3: 123,167,693 (GRCm39) D222N probably benign Het
Mfsd4b3-ps G A 10: 39,824,072 (GRCm39) H63Y probably benign Het
Myo16 T C 8: 10,426,175 (GRCm39) W311R probably damaging Het
Nccrp1 A T 7: 28,245,628 (GRCm39) N151K probably benign Het
Obsl1 T C 1: 75,480,493 (GRCm39) D377G probably damaging Het
Or5b97 T A 19: 12,878,578 (GRCm39) T189S probably benign Het
Or5p80 T A 7: 108,229,506 (GRCm39) C102* probably null Het
Or7c19 T A 8: 85,957,913 (GRCm39) I263N probably benign Het
Or7c70 G T 10: 78,683,576 (GRCm39) P58T probably damaging Het
Pigb T C 9: 72,945,983 (GRCm39) N63S probably damaging Het
Plch2 T C 4: 155,077,023 (GRCm39) E577G probably benign Het
Prkab2 T C 3: 97,573,943 (GRCm39) V194A probably benign Het
Psd3 T C 8: 68,416,461 (GRCm39) I479V probably benign Het
Rpap2 T A 5: 107,768,361 (GRCm39) S400T possibly damaging Het
Rpgrip1l C A 8: 92,007,456 (GRCm39) W378L possibly damaging Het
Rps20 T A 4: 3,834,617 (GRCm39) M82L probably benign Het
Rps5 T C 7: 12,659,440 (GRCm39) M77T possibly damaging Het
Scaf11 A G 15: 96,318,371 (GRCm39) S398P probably damaging Het
Sdf2 T A 11: 78,145,763 (GRCm39) D153E probably benign Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Slc12a9 T C 5: 137,329,270 (GRCm39) N128S probably damaging Het
Slc25a32 C A 15: 38,960,946 (GRCm39) G246C probably damaging Het
Slc38a4 C T 15: 96,914,662 (GRCm39) A64T probably benign Het
Slit3 T C 11: 35,589,207 (GRCm39) V1254A probably damaging Het
Slx4 T C 16: 3,808,111 (GRCm39) K481R probably benign Het
Tcea1 A G 1: 4,959,732 (GRCm39) T136A probably benign Het
Thra A G 11: 98,644,449 (GRCm39) D13G possibly damaging Het
Tmed9 G A 13: 55,744,775 (GRCm39) S227N probably benign Het
Trim80 C A 11: 115,331,538 (GRCm39) T20K probably benign Het
Trmt61a G T 12: 111,649,256 (GRCm39) V276L probably benign Het
Trpc4ap T C 2: 155,508,171 (GRCm39) D160G possibly damaging Het
Ubr5 C T 15: 38,029,825 (GRCm39) E467K Het
Vars2 C A 17: 35,972,541 (GRCm39) G26W probably damaging Het
Vmn1r226 G T 17: 20,908,287 (GRCm39) R173L possibly damaging Het
Vmn1r29 G T 6: 58,284,284 (GRCm39) M1I probably null Het
Vmn2r3 G T 3: 64,168,803 (GRCm39) P578Q possibly damaging Het
Vmn2r57 A T 7: 41,049,571 (GRCm39) I726N possibly damaging Het
Zfp39 A T 11: 58,780,946 (GRCm39) Y605* 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 2 158,279,264 (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'- GAGGAAAACTGTTGTTCTGGAGC -3'
(R):5'- TGCAGTTCTTGAGTCCAACC -3'

Sequencing Primer
(F):5'- AGAGCTGCCTTGACTCTGGTC -3'
(R):5'- AGTTCTTGAGTCCAACCTCCTGG -3'
Posted On 2021-08-31