Incidental Mutation 'R1908:Rgl2'
ID 210099
Institutional Source Beutler Lab
Gene Symbol Rgl2
Ensembl Gene ENSMUSG00000041354
Gene Name ral guanine nucleotide dissociation stimulator-like 2
Synonyms Rlf, Rgt2, Rab2l, KE1.5
MMRRC Submission 039927-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # R1908 (G1)
Quality Score 178
Status Not validated
Chromosome 17
Chromosomal Location 34148813-34156661 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34151122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 117 (T117A)
Ref Sequence ENSEMBL: ENSMUSP00000041082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025161] [ENSMUST00000047503]
AlphaFold Q61193
PDB Structure STRUCTURE DETERMINATION OF THE RAS-BINDING DOMAIN OF THE RAL-SPECIFIC GUANINE NUCLEOTIDE EXCHANGE FACTOR RLF, NMR, 10 STRUCTURES [SOLUTION NMR]
The conformation of a docking site for SH3 domains is pre-selected in the Guanine Nucleotide Exchange Factor Rlf [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000025161
SMART Domains Protein: ENSMUSP00000025161
Gene: ENSMUSG00000024308

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 48 65 N/A INTRINSIC
low complexity region 127 152 N/A INTRINSIC
IG 168 292 3.45e0 SMART
IG_like 302 406 4.78e1 SMART
transmembrane domain 416 438 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000047503
AA Change: T117A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000041082
Gene: ENSMUSG00000041354
AA Change: T117A

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 31 42 N/A INTRINSIC
low complexity region 44 63 N/A INTRINSIC
RasGEFN 87 212 9.54e-30 SMART
RasGEF 239 514 7.15e-106 SMART
low complexity region 578 592 N/A INTRINSIC
low complexity region 602 619 N/A INTRINSIC
low complexity region 633 648 N/A INTRINSIC
RA 649 736 2.05e-19 SMART
low complexity region 737 762 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172653
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173153
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173258
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174676
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173379
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174410
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173502
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174442
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173266
Predicted Effect probably benign
Transcript: ENSMUST00000173284
SMART Domains Protein: ENSMUSP00000134312
Gene: ENSMUSG00000041354

DomainStartEndE-ValueType
Blast:RasGEF 2 67 1e-35 BLAST
PDB:4JGW|B 2 67 1e-35 PDB
SCOP:d1bkds_ 2 94 3e-16 SMART
low complexity region 131 145 N/A INTRINSIC
low complexity region 155 172 N/A INTRINSIC
low complexity region 186 201 N/A INTRINSIC
RA 202 289 2.05e-19 SMART
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b C A 11: 109,847,924 (GRCm39) L852F possibly damaging Het
Abcc6 T C 7: 45,669,558 (GRCm39) probably null Het
Alg11 T G 8: 22,555,584 (GRCm39) C240G probably damaging Het
Aox1 A G 1: 58,141,783 (GRCm39) I1190V probably damaging Het
Apc2 T G 10: 80,150,678 (GRCm39) S1911A probably benign Het
Arfgef3 T C 10: 18,528,511 (GRCm39) D292G possibly damaging Het
Arhgef4 C A 1: 34,763,340 (GRCm39) S865R probably benign Het
Ass1 T A 2: 31,383,160 (GRCm39) Y190* probably null Het
B4galnt3 A T 6: 120,187,051 (GRCm39) probably null Het
Btnl10 C A 11: 58,811,367 (GRCm39) P230Q possibly damaging Het
C3 A G 17: 57,516,489 (GRCm39) Y1348H probably damaging Het
Ccdc198 G T 14: 49,464,032 (GRCm39) D292E probably damaging Het
Cebpz A T 17: 79,242,336 (GRCm39) Y439* probably null Het
Cic C A 7: 24,986,265 (GRCm39) T1229K probably damaging Het
Clip4 T C 17: 72,144,744 (GRCm39) S524P probably damaging Het
Col6a3 A C 1: 90,739,421 (GRCm39) I269R probably damaging Het
Dbh C T 2: 27,071,506 (GRCm39) T533I possibly damaging Het
Dcaf17 A T 2: 70,890,713 (GRCm39) R83* probably null Het
Dennd2b G A 7: 109,124,533 (GRCm39) Q686* probably null Het
Dnah1 A G 14: 30,984,515 (GRCm39) L3923P probably damaging Het
Dnah7a A T 1: 53,670,721 (GRCm39) D510E probably benign Het
Dock6 A G 9: 21,752,925 (GRCm39) F296S probably damaging Het
Eif4enif1 T C 11: 3,177,455 (GRCm39) S341P probably damaging Het
Epb41l1 G T 2: 156,352,737 (GRCm39) G461V possibly damaging Het
Epg5 T A 18: 78,002,247 (GRCm39) D555E probably benign Het
Fes T C 7: 80,036,609 (GRCm39) R113G probably damaging Het
Garre1 T A 7: 33,957,461 (GRCm39) I59L probably benign Het
Gm10684 A G 9: 45,021,511 (GRCm39) probably benign Het
Gm12185 T C 11: 48,806,231 (GRCm39) E320G probably benign Het
Gm14412 G T 2: 177,007,269 (GRCm39) H209N probably damaging Het
Gm14412 A C 2: 177,007,630 (GRCm39) S88R probably benign Het
Grhl1 T A 12: 24,658,555 (GRCm39) L400Q probably damaging Het
Havcr1 T A 11: 46,664,511 (GRCm39) Y216* probably null Het
Hephl1 A C 9: 14,985,420 (GRCm39) Y745* probably null Het
Hmcn2 T G 2: 31,301,922 (GRCm39) probably null Het
Hs3st6 A G 17: 24,977,110 (GRCm39) K197E possibly damaging Het
Ifi214 C T 1: 173,357,077 (GRCm39) V9I probably benign Het
Jakmip2 T C 18: 43,700,209 (GRCm39) T450A probably benign Het
Lrp4 T A 2: 91,328,753 (GRCm39) V1551D possibly damaging Het
Macf1 A T 4: 123,351,634 (GRCm39) H1634Q possibly damaging Het
Mcpt8 T A 14: 56,321,291 (GRCm39) I58F probably benign Het
Mga T A 2: 119,757,075 (GRCm39) H1018Q possibly damaging Het
Myo10 T A 15: 25,801,308 (GRCm39) V1499E probably damaging Het
Myom2 G T 8: 15,131,023 (GRCm39) D320Y probably damaging Het
Or11g7 T A 14: 50,691,295 (GRCm39) M262K probably damaging Het
Or13a27 T C 7: 139,925,378 (GRCm39) I175V probably benign Het
Or2r11 C T 6: 42,437,360 (GRCm39) V198M probably benign Het
Or2t26 A C 11: 49,039,101 (GRCm39) N6H possibly damaging Het
Or4c115 G A 2: 88,927,888 (GRCm39) P128S probably damaging Het
Or5d47 A T 2: 87,804,403 (GRCm39) V202D possibly damaging Het
Pabpc4 G T 4: 123,182,861 (GRCm39) R166L possibly damaging Het
Pcdhb8 A G 18: 37,489,015 (GRCm39) E231G possibly damaging Het
Pomgnt2 A T 9: 121,811,257 (GRCm39) I508N possibly damaging Het
Ppp2r5e C G 12: 75,516,341 (GRCm39) A239P probably damaging Het
Prdm15 G T 16: 97,638,885 (GRCm39) D58E probably benign Het
Rp1 A G 1: 4,418,943 (GRCm39) I723T probably damaging Het
Serpina3g A G 12: 104,207,536 (GRCm39) E233G probably damaging Het
Skint6 T A 4: 112,749,187 (GRCm39) S798C probably benign Het
Slc35f1 T C 10: 52,898,000 (GRCm39) L137P possibly damaging Het
Slc6a20a T C 9: 123,485,373 (GRCm39) N246S probably damaging Het
Slc7a2 T C 8: 41,369,534 (GRCm39) L663S probably benign Het
Slco1a4 A G 6: 141,761,173 (GRCm39) probably null Het
Slit2 A G 5: 48,439,330 (GRCm39) T41A probably damaging Het
Smc2 T C 4: 52,450,863 (GRCm39) I227T probably damaging Het
Smg1 A G 7: 117,753,422 (GRCm39) probably benign Het
Ssu2 A T 6: 112,361,388 (GRCm39) L23M probably benign Het
Syne2 A G 12: 76,141,053 (GRCm39) probably null Het
Tekt1 T C 11: 72,242,761 (GRCm39) T249A probably benign Het
Tfr2 T C 5: 137,569,954 (GRCm39) V120A probably benign Het
Thsd7b C T 1: 129,605,846 (GRCm39) P529L probably damaging Het
Tll1 C T 8: 64,478,141 (GRCm39) D871N probably damaging Het
Tlr11 A C 14: 50,598,664 (GRCm39) I217L probably benign Het
Tmem87b T A 2: 128,673,479 (GRCm39) V241D probably damaging Het
Tshz2 T A 2: 169,727,465 (GRCm39) I218N possibly damaging Het
Vmn1r18 A T 6: 57,367,026 (GRCm39) I176N possibly damaging Het
Vmn2r68 T A 7: 84,883,260 (GRCm39) H164L probably benign Het
Vmn2r74 T C 7: 85,601,650 (GRCm39) T663A probably benign Het
Vmn2r8 T C 5: 108,945,436 (GRCm39) T724A probably benign Het
Wdr11 T C 7: 129,206,954 (GRCm39) V289A possibly damaging Het
Zfp62 T A 11: 49,107,047 (GRCm39) D379E probably damaging Het
Zfp78 C T 7: 6,381,897 (GRCm39) P316S probably damaging Het
Zfyve27 T G 19: 42,159,987 (GRCm39) M1R probably null Het
Zkscan8 G A 13: 21,709,325 (GRCm39) P191L probably damaging Het
Other mutations in Rgl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Rgl2 APN 17 34,152,110 (GRCm39) missense probably benign 0.31
IGL00898:Rgl2 APN 17 34,152,392 (GRCm39) missense possibly damaging 0.95
IGL00965:Rgl2 APN 17 34,154,910 (GRCm39) missense probably benign 0.00
IGL00985:Rgl2 APN 17 34,151,075 (GRCm39) missense probably damaging 1.00
IGL02140:Rgl2 APN 17 34,152,098 (GRCm39) missense probably damaging 1.00
IGL02214:Rgl2 APN 17 34,154,163 (GRCm39) missense probably benign 0.06
IGL02486:Rgl2 APN 17 34,154,954 (GRCm39) missense probably damaging 0.97
IGL02579:Rgl2 APN 17 34,156,134 (GRCm39) missense probably benign 0.08
IGL02976:Rgl2 APN 17 34,152,936 (GRCm39) missense possibly damaging 0.95
Hypotenuse UTSW 17 34,150,713 (GRCm39) missense probably benign 0.00
Pedernales UTSW 17 34,151,012 (GRCm39) critical splice acceptor site probably null
PIT4354001:Rgl2 UTSW 17 34,152,914 (GRCm39) missense possibly damaging 0.80
R0347:Rgl2 UTSW 17 34,151,712 (GRCm39) missense probably damaging 1.00
R0456:Rgl2 UTSW 17 34,155,823 (GRCm39) splice site probably null
R0825:Rgl2 UTSW 17 34,154,133 (GRCm39) splice site probably null
R1742:Rgl2 UTSW 17 34,156,197 (GRCm39) splice site probably null
R1777:Rgl2 UTSW 17 34,150,718 (GRCm39) missense probably benign 0.00
R1829:Rgl2 UTSW 17 34,152,595 (GRCm39) missense probably benign 0.00
R1961:Rgl2 UTSW 17 34,152,589 (GRCm39) missense probably damaging 1.00
R2102:Rgl2 UTSW 17 34,152,314 (GRCm39) splice site probably null
R3001:Rgl2 UTSW 17 34,151,579 (GRCm39) missense probably benign 0.00
R3002:Rgl2 UTSW 17 34,151,579 (GRCm39) missense probably benign 0.00
R3755:Rgl2 UTSW 17 34,151,571 (GRCm39) missense probably benign 0.01
R3756:Rgl2 UTSW 17 34,151,571 (GRCm39) missense probably benign 0.01
R3978:Rgl2 UTSW 17 34,154,136 (GRCm39) missense probably benign 0.02
R4042:Rgl2 UTSW 17 34,156,236 (GRCm39) missense probably damaging 1.00
R4064:Rgl2 UTSW 17 34,156,082 (GRCm39) missense possibly damaging 0.77
R4204:Rgl2 UTSW 17 34,155,906 (GRCm39) missense probably benign 0.04
R4661:Rgl2 UTSW 17 34,152,200 (GRCm39) missense possibly damaging 0.77
R4852:Rgl2 UTSW 17 34,156,147 (GRCm39) missense probably benign 0.00
R4922:Rgl2 UTSW 17 34,151,749 (GRCm39) unclassified probably benign
R5119:Rgl2 UTSW 17 34,156,094 (GRCm39) missense probably benign 0.00
R5167:Rgl2 UTSW 17 34,154,948 (GRCm39) nonsense probably null
R5279:Rgl2 UTSW 17 34,154,922 (GRCm39) missense probably benign
R5319:Rgl2 UTSW 17 34,152,529 (GRCm39) missense probably benign 0.02
R5337:Rgl2 UTSW 17 34,153,958 (GRCm39) missense probably damaging 0.99
R5881:Rgl2 UTSW 17 34,151,691 (GRCm39) missense probably benign 0.01
R5945:Rgl2 UTSW 17 34,151,012 (GRCm39) critical splice acceptor site probably null
R6165:Rgl2 UTSW 17 34,150,739 (GRCm39) missense probably benign 0.01
R6358:Rgl2 UTSW 17 34,156,105 (GRCm39) splice site probably null
R6867:Rgl2 UTSW 17 34,151,661 (GRCm39) missense probably benign 0.09
R7174:Rgl2 UTSW 17 34,153,964 (GRCm39) missense possibly damaging 0.93
R7182:Rgl2 UTSW 17 34,153,964 (GRCm39) missense possibly damaging 0.93
R7183:Rgl2 UTSW 17 34,153,964 (GRCm39) missense possibly damaging 0.93
R7184:Rgl2 UTSW 17 34,153,964 (GRCm39) missense possibly damaging 0.93
R7196:Rgl2 UTSW 17 34,152,403 (GRCm39) missense probably damaging 1.00
R7203:Rgl2 UTSW 17 34,152,403 (GRCm39) missense probably damaging 1.00
R7250:Rgl2 UTSW 17 34,152,403 (GRCm39) missense probably damaging 1.00
R7253:Rgl2 UTSW 17 34,153,964 (GRCm39) missense possibly damaging 0.93
R7254:Rgl2 UTSW 17 34,153,964 (GRCm39) missense possibly damaging 0.93
R7255:Rgl2 UTSW 17 34,153,964 (GRCm39) missense possibly damaging 0.93
R7256:Rgl2 UTSW 17 34,153,964 (GRCm39) missense possibly damaging 0.93
R7282:Rgl2 UTSW 17 34,152,403 (GRCm39) missense probably damaging 1.00
R7455:Rgl2 UTSW 17 34,151,657 (GRCm39) missense probably benign 0.32
R7513:Rgl2 UTSW 17 34,151,529 (GRCm39) missense probably benign
R7752:Rgl2 UTSW 17 34,154,799 (GRCm39) missense possibly damaging 0.82
R7901:Rgl2 UTSW 17 34,154,799 (GRCm39) missense possibly damaging 0.82
R7941:Rgl2 UTSW 17 34,150,713 (GRCm39) missense probably benign 0.00
R8158:Rgl2 UTSW 17 34,155,918 (GRCm39) missense probably benign 0.27
R8209:Rgl2 UTSW 17 34,151,501 (GRCm39) missense possibly damaging 0.91
R8226:Rgl2 UTSW 17 34,151,501 (GRCm39) missense possibly damaging 0.91
R8405:Rgl2 UTSW 17 34,152,698 (GRCm39) nonsense probably null
R8871:Rgl2 UTSW 17 34,153,974 (GRCm39) missense probably damaging 1.00
R9205:Rgl2 UTSW 17 34,155,002 (GRCm39) missense probably damaging 1.00
R9591:Rgl2 UTSW 17 34,151,451 (GRCm39) missense possibly damaging 0.50
X0028:Rgl2 UTSW 17 34,151,432 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- TTTCTGAACCGGGGCAGAAATAAG -3'
(R):5'- GAGATTCAAGGGCTTCCAGC -3'

Sequencing Primer
(F):5'- CCGGGGCAGAAATAAGCTAGATC -3'
(R):5'- TTCCAGCCTGGGGATGAG -3'
Posted On 2014-06-30