Incidental Mutation 'R4852:Rgl2'
ID 373674
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 042464-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # R4852 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 34148813-34156661 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34156147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 745 (H745R)
Ref Sequence ENSEMBL: ENSMUSP00000041082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025163] [ENSMUST00000025170] [ENSMUST00000047503] [ENSMUST00000173363] [ENSMUST00000174048] [ENSMUST00000179418] [ENSMUST00000174426]
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: ENSMUST00000025163
SMART Domains Protein: ENSMUSP00000025163
Gene: ENSMUSG00000024309

DomainStartEndE-ValueType
Pfam:Prefoldin_2 10 115 9.6e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000025170
SMART Domains Protein: ENSMUSP00000025170
Gene: ENSMUSG00000024312

DomainStartEndE-ValueType
coiled coil region 126 155 N/A INTRINSIC
low complexity region 204 217 N/A INTRINSIC
WD40 225 262 1.02e2 SMART
WD40 267 302 3.3e1 SMART
Blast:WD40 305 344 8e-19 BLAST
WD40 347 386 9.52e-6 SMART
Blast:WD40 392 426 3e-14 BLAST
BING4CT 439 517 8.85e-53 SMART
low complexity region 542 556 N/A INTRINSIC
low complexity region 586 593 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000047503
AA Change: H745R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000041082
Gene: ENSMUSG00000041354
AA Change: H745R

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: ENSMUST00000172546
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173153
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173258
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173266
Predicted Effect unknown
Transcript: ENSMUST00000173284
AA Change: H297R
SMART Domains Protein: ENSMUSP00000134312
Gene: ENSMUSG00000041354
AA Change: H297R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173857
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173678
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173502
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174442
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173379
Predicted Effect probably benign
Transcript: ENSMUST00000173363
SMART Domains Protein: ENSMUSP00000138662
Gene: ENSMUSG00000024309

DomainStartEndE-ValueType
Pfam:Prefoldin_2 1 89 1.1e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174048
SMART Domains Protein: ENSMUSP00000133656
Gene: ENSMUSG00000024309

DomainStartEndE-ValueType
Pfam:Prefoldin_2 10 115 2e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179418
SMART Domains Protein: ENSMUSP00000137072
Gene: ENSMUSG00000024309

DomainStartEndE-ValueType
Pfam:Prefoldin_2 10 115 2e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174426
SMART Domains Protein: ENSMUSP00000134069
Gene: ENSMUSG00000024309

DomainStartEndE-ValueType
Pfam:Prefoldin_2 1 89 1.1e-24 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
4921524L21Rik C G 18: 6,623,487 (GRCm39) L66V possibly damaging Het
4921524L21Rik T A 18: 6,623,488 (GRCm39) L66Q probably damaging Het
Abca6 A G 11: 110,135,029 (GRCm39) V252A probably benign Het
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Acap1 C T 11: 69,775,202 (GRCm39) V354M probably benign Het
Accs T C 2: 93,674,605 (GRCm39) D99G probably damaging Het
Adam9 T C 8: 25,493,317 (GRCm39) Y97C probably damaging Het
Akap6 T C 12: 53,151,458 (GRCm39) V1174A probably damaging Het
Aknad1 C A 3: 108,659,056 (GRCm39) D23E probably damaging Het
Ano2 T C 6: 125,959,886 (GRCm39) C666R possibly damaging Het
Atp4a G A 7: 30,423,693 (GRCm39) A933T probably benign Het
Atxn2 T C 5: 121,952,474 (GRCm39) L224P probably damaging Het
Bin2 T C 15: 100,543,169 (GRCm39) E338G probably damaging Het
Bloc1s5 T C 13: 38,818,960 (GRCm39) K20E probably damaging Het
Bst1 A T 5: 43,977,867 (GRCm39) D72V probably benign Het
Cacna1i T C 15: 80,272,680 (GRCm39) F1631L probably damaging Het
Capn13 GCA G 17: 73,658,501 (GRCm39) probably null Het
Cfap43 A G 19: 47,885,550 (GRCm39) I355T possibly damaging Het
Chuk A T 19: 44,077,197 (GRCm39) M383K possibly damaging Het
Cnga4 A G 7: 105,054,937 (GRCm39) I174V probably benign Het
Cpd T C 11: 76,675,976 (GRCm39) K1226E probably benign Het
Crip2 T C 12: 113,104,204 (GRCm39) C5R probably damaging Het
Cyp3a11 T A 5: 145,797,305 (GRCm39) D358V probably damaging Het
Ebag9 T C 15: 44,487,915 (GRCm39) F21S probably damaging Het
Ercc1 A T 7: 19,084,629 (GRCm39) H70L probably damaging Het
Exoc3 G A 13: 74,347,764 (GRCm39) R69C probably damaging Het
Fgfr4 A T 13: 55,308,969 (GRCm39) R363S possibly damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gm7489 T A 15: 53,749,434 (GRCm39) probably benign Het
Gphn G A 12: 78,673,984 (GRCm39) V526M probably damaging Het
Gpr152 G A 19: 4,193,790 (GRCm39) V444I probably benign Het
Gss T C 2: 155,406,785 (GRCm39) E330G probably benign Het
Hbs1l A G 10: 21,234,287 (GRCm39) D556G possibly damaging Het
Helz2 T C 2: 180,871,913 (GRCm39) T2619A probably damaging Het
Hk3 A G 13: 55,160,409 (GRCm39) F304L probably damaging Het
Itgad A T 7: 127,797,702 (GRCm39) N906Y probably damaging Het
Jakmip2 T C 18: 43,710,465 (GRCm39) E246G probably damaging Het
L3mbtl4 A T 17: 68,866,748 (GRCm39) H329L probably damaging Het
Mau2 A G 8: 70,485,827 (GRCm39) probably null Het
Myo16 T C 8: 10,423,474 (GRCm39) L270P probably damaging Het
Naa25 T C 5: 121,568,755 (GRCm39) S606P probably damaging Het
Nags T A 11: 102,037,447 (GRCm39) C179* probably null Het
Naip2 A G 13: 100,298,044 (GRCm39) M664T probably benign Het
Ndufv3 T C 17: 31,747,043 (GRCm39) I311T probably benign Het
Nipsnap1 G T 11: 4,841,468 (GRCm39) E258* probably null Het
Nudc A G 4: 133,261,660 (GRCm39) L208P probably damaging Het
Or1e32 T C 11: 73,705,074 (GRCm39) Y278C probably benign Het
Or51a39 A T 7: 102,362,750 (GRCm39) V290E probably damaging Het
Oscp1 A G 4: 125,970,652 (GRCm39) D137G possibly damaging Het
Pcdhb5 C T 18: 37,455,524 (GRCm39) P635S probably benign Het
Pcdhgb2 T A 18: 37,825,103 (GRCm39) I698N probably damaging Het
Pde4b A G 4: 102,454,967 (GRCm39) Y399C probably damaging Het
Pdf A T 8: 107,774,812 (GRCm39) V140E probably damaging Het
Pglyrp2 T C 17: 32,634,823 (GRCm39) N513S probably benign Het
Ranbp2 T A 10: 58,312,878 (GRCm39) D1199E possibly damaging Het
Rell2 G T 18: 38,089,621 (GRCm39) probably null Het
Rnf121 A G 7: 101,672,592 (GRCm39) C264R probably damaging Het
Rnf181 A G 6: 72,338,499 (GRCm39) F3S probably damaging Het
Rsrc1 T A 3: 67,262,935 (GRCm39) D296E probably damaging Het
Rubcn A T 16: 32,663,678 (GRCm39) D319E probably damaging Het
Scaf8 T C 17: 3,228,494 (GRCm39) S431P unknown Het
Septin11 T A 5: 93,310,112 (GRCm39) M305K possibly damaging Het
Serpinb12 A G 1: 106,884,132 (GRCm39) K293E probably benign Het
Sh3bp1 T A 15: 78,788,538 (GRCm39) H229Q probably benign Het
Slco4c1 G A 1: 96,768,953 (GRCm39) P303L probably damaging Het
Specc1 T A 11: 62,102,510 (GRCm39) V952E probably damaging Het
Spint2 G A 7: 28,956,211 (GRCm39) T158I probably benign Het
St8sia4 A T 1: 95,588,623 (GRCm39) W71R probably damaging Het
Tex48 C T 4: 63,530,151 (GRCm39) V23I possibly damaging Het
Tmc5 G A 7: 118,244,562 (GRCm39) G480D probably benign Het
Tmem8b T A 4: 43,689,713 (GRCm39) M330K probably damaging Het
Tnrc18 C T 5: 142,717,095 (GRCm39) R2453Q probably damaging Het
Trank1 A T 9: 111,220,963 (GRCm39) N2567Y possibly damaging Het
Trps1 T C 15: 50,709,705 (GRCm39) D211G probably damaging Het
Ttn T C 2: 76,555,503 (GRCm39) R30501G probably damaging Het
Ttn T A 2: 76,573,247 (GRCm39) Y25882F probably damaging Het
Unc79 T A 12: 103,139,725 (GRCm39) V2495E probably damaging Het
Uqcr10 T A 11: 4,652,198 (GRCm39) H58L possibly damaging Het
Usp7 A T 16: 8,574,708 (GRCm39) C58* probably null Het
Vmn1r36 A T 6: 66,693,872 (GRCm39) M1K probably null Het
Wdr7 T A 18: 63,911,020 (GRCm39) M804K probably damaging Het
Zfp131 A C 13: 120,250,394 (GRCm39) probably null Het
Zfp507 A G 7: 35,493,480 (GRCm39) V521A probably benign 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
R1908:Rgl2 UTSW 17 34,151,122 (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
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'- CTGTGGCTTCAGAGTTCGAG -3'
(R):5'- TATTGTGGCCACCATGTGTG -3'

Sequencing Primer
(F):5'- CAGAGTTCGAGCTGGTGCAG -3'
(R):5'- GGCTGCTCACTCCTGGTATGAG -3'
Posted On 2016-03-01