Incidental Mutation 'R6777:Ralgps2'
ID 531324
Institutional Source Beutler Lab
Gene Symbol Ralgps2
Ensembl Gene ENSMUSG00000026594
Gene Name Ral GEF with PH domain and SH3 binding motif 2
Synonyms 1810020P17Rik, 4921528G01Rik, 9130014M22Rik, 2210408F11Rik
MMRRC Submission 044893-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6777 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 156631736-156767196 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 156715515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027886] [ENSMUST00000063199] [ENSMUST00000171292] [ENSMUST00000172057] [ENSMUST00000185198] [ENSMUST00000188656] [ENSMUST00000189316] [ENSMUST00000190648] [ENSMUST00000190762] [ENSMUST00000191605] [ENSMUST00000192343]
AlphaFold Q9ERD6
Predicted Effect probably null
Transcript: ENSMUST00000027886
SMART Domains Protein: ENSMUSP00000027886
Gene: ENSMUSG00000026594

DomainStartEndE-ValueType
low complexity region 18 37 N/A INTRINSIC
RasGEF 45 288 2.31e-91 SMART
low complexity region 394 417 N/A INTRINSIC
PH 439 552 1.01e-9 SMART
Predicted Effect probably null
Transcript: ENSMUST00000063199
SMART Domains Protein: ENSMUSP00000063872
Gene: ENSMUSG00000026594

DomainStartEndE-ValueType
low complexity region 18 37 N/A INTRINSIC
RasGEF 45 288 2.31e-91 SMART
low complexity region 394 417 N/A INTRINSIC
PH 465 578 1.01e-9 SMART
Predicted Effect probably null
Transcript: ENSMUST00000171292
SMART Domains Protein: ENSMUSP00000130581
Gene: ENSMUSG00000026594

DomainStartEndE-ValueType
low complexity region 18 37 N/A INTRINSIC
RasGEF 45 288 2.31e-91 SMART
low complexity region 394 417 N/A INTRINSIC
PH 465 578 1.01e-9 SMART
Predicted Effect probably null
Transcript: ENSMUST00000172057
SMART Domains Protein: ENSMUSP00000132533
Gene: ENSMUSG00000026594

DomainStartEndE-ValueType
RasGEF 5 253 1.35e-83 SMART
low complexity region 359 382 N/A INTRINSIC
PH 430 543 1.01e-9 SMART
Predicted Effect probably null
Transcript: ENSMUST00000185198
SMART Domains Protein: ENSMUSP00000139618
Gene: ENSMUSG00000026594

DomainStartEndE-ValueType
low complexity region 18 37 N/A INTRINSIC
RasGEF 45 288 2.31e-91 SMART
low complexity region 394 417 N/A INTRINSIC
Blast:PH 465 562 3e-55 BLAST
PDB:2DTC|B 466 551 9e-34 PDB
SCOP:d1btn__ 467 546 2e-8 SMART
Predicted Effect probably null
Transcript: ENSMUST00000188656
SMART Domains Protein: ENSMUSP00000140342
Gene: ENSMUSG00000026594

DomainStartEndE-ValueType
low complexity region 18 37 N/A INTRINSIC
RasGEF 45 288 1.4e-93 SMART
low complexity region 394 417 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000189316
SMART Domains Protein: ENSMUSP00000140230
Gene: ENSMUSG00000026594

DomainStartEndE-ValueType
low complexity region 18 37 N/A INTRINSIC
RasGEF 45 288 2.31e-91 SMART
low complexity region 394 417 N/A INTRINSIC
PDB:2DTC|B 466 520 6e-16 PDB
SCOP:d1btn__ 467 519 1e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000190648
SMART Domains Protein: ENSMUSP00000140055
Gene: ENSMUSG00000026594

DomainStartEndE-ValueType
low complexity region 18 37 N/A INTRINSIC
RasGEF 45 288 1.4e-93 SMART
low complexity region 394 417 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000190762
SMART Domains Protein: ENSMUSP00000139822
Gene: ENSMUSG00000026594

DomainStartEndE-ValueType
low complexity region 18 37 N/A INTRINSIC
Pfam:RasGEF 46 128 3e-20 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000191605
SMART Domains Protein: ENSMUSP00000139645
Gene: ENSMUSG00000026594

DomainStartEndE-ValueType
low complexity region 18 37 N/A INTRINSIC
RasGEF 45 288 2.31e-91 SMART
low complexity region 394 417 N/A INTRINSIC
PH 465 578 1.01e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000192343
SMART Domains Protein: ENSMUSP00000142004
Gene: ENSMUSG00000026594

DomainStartEndE-ValueType
SCOP:d1bkds_ 1 70 3e-5 SMART
PDB:3QXL|B 38 71 3e-14 PDB
Blast:RasGEF 45 74 1e-11 BLAST
Meta Mutation Damage Score 0.9495 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.1%
Validation Efficiency 100% (32/32)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik A T 7: 12,246,756 (GRCm39) L45F probably benign Het
Adam7 T C 14: 68,762,784 (GRCm39) Y147C probably damaging Het
Adss2 A T 1: 177,603,902 (GRCm39) probably null Het
Atp2c1 T A 9: 105,295,799 (GRCm39) I812L possibly damaging Het
Capn2 A G 1: 182,297,742 (GRCm39) probably null Het
Crybg3 A G 16: 59,378,678 (GRCm39) probably benign Het
Cux1 C G 5: 136,594,422 (GRCm39) probably benign Het
Dkk2 T A 3: 131,879,572 (GRCm39) C84S probably damaging Het
Eml3 T C 19: 8,914,086 (GRCm39) V128A probably benign Het
Fzr1 A G 10: 81,206,327 (GRCm39) Y148H probably damaging Het
Galnt9 G A 5: 110,768,465 (GRCm39) R587H probably damaging Het
Ganc A G 2: 120,274,630 (GRCm39) T584A probably damaging Het
Gldc T C 19: 30,110,912 (GRCm39) T564A probably damaging Het
Gm49359 A T 13: 62,603,006 (GRCm39) C65S probably benign Het
Hspa12a A G 19: 58,810,519 (GRCm39) Y175H probably benign Het
Ly6g A G 15: 75,030,431 (GRCm39) D60G probably benign Het
Or11j4 A T 14: 50,631,115 (GRCm39) M301L probably damaging Het
Pex1 T A 5: 3,672,358 (GRCm39) C694S probably benign Het
Pkd1l3 T C 8: 110,353,446 (GRCm39) F676L probably benign Het
Pla2g2c T C 4: 138,470,976 (GRCm39) V119A probably benign Het
Rbp3 C A 14: 33,676,230 (GRCm39) H59Q probably benign Het
Serpina3c T C 12: 104,118,069 (GRCm39) K90E probably benign Het
Slc24a3 A G 2: 145,482,202 (GRCm39) Y620C probably damaging Het
Smg1 C A 7: 117,788,340 (GRCm39) probably benign Het
Srp68 A T 11: 116,153,730 (GRCm39) V198E probably damaging Het
Ssx2ip C T 3: 146,144,476 (GRCm39) T580M possibly damaging Het
Terf2 A G 8: 107,797,169 (GRCm39) V434A possibly damaging Het
Tmem242 G A 17: 5,483,830 (GRCm39) P71S probably damaging Het
Tmprss13 C T 9: 45,247,399 (GRCm39) R254* probably null Het
Trgv3 A G 13: 19,427,450 (GRCm39) Y111C probably damaging Het
Other mutations in Ralgps2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02406:Ralgps2 APN 1 156,655,838 (GRCm39) missense possibly damaging 0.49
IGL02669:Ralgps2 APN 1 156,660,268 (GRCm39) missense probably damaging 1.00
IGL02898:Ralgps2 APN 1 156,645,314 (GRCm39) missense probably benign 0.13
R0164:Ralgps2 UTSW 1 156,714,659 (GRCm39) critical splice donor site probably null
R0164:Ralgps2 UTSW 1 156,714,659 (GRCm39) critical splice donor site probably null
R0295:Ralgps2 UTSW 1 156,651,555 (GRCm39) splice site probably benign
R0551:Ralgps2 UTSW 1 156,660,233 (GRCm39) critical splice donor site probably null
R1179:Ralgps2 UTSW 1 156,729,369 (GRCm39) missense probably damaging 1.00
R1573:Ralgps2 UTSW 1 156,660,500 (GRCm39) missense possibly damaging 0.85
R2112:Ralgps2 UTSW 1 156,660,278 (GRCm39) missense probably damaging 1.00
R4832:Ralgps2 UTSW 1 156,684,637 (GRCm39) intron probably benign
R5316:Ralgps2 UTSW 1 156,641,067 (GRCm39) missense probably damaging 0.99
R5762:Ralgps2 UTSW 1 156,660,234 (GRCm39) critical splice donor site probably null
R6368:Ralgps2 UTSW 1 156,712,144 (GRCm39) missense probably damaging 1.00
R6572:Ralgps2 UTSW 1 156,651,620 (GRCm39) splice site probably null
R7165:Ralgps2 UTSW 1 156,655,818 (GRCm39) missense probably benign 0.05
R7866:Ralgps2 UTSW 1 156,714,738 (GRCm39) missense probably benign 0.00
R7879:Ralgps2 UTSW 1 156,656,636 (GRCm39) missense probably benign
R8284:Ralgps2 UTSW 1 156,655,718 (GRCm39) missense probably benign 0.03
R8329:Ralgps2 UTSW 1 156,712,110 (GRCm39) missense probably damaging 1.00
R8339:Ralgps2 UTSW 1 156,649,008 (GRCm39) missense probably null 0.08
R8448:Ralgps2 UTSW 1 156,651,744 (GRCm39) splice site probably null
R9334:Ralgps2 UTSW 1 156,715,599 (GRCm39) missense probably damaging 1.00
X0020:Ralgps2 UTSW 1 156,647,462 (GRCm39) missense possibly damaging 0.64
Z1176:Ralgps2 UTSW 1 156,656,645 (GRCm39) missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- GTGATGTCTTTGAATTCAATGAAGCCC -3'
(R):5'- TGTTCCAGAAAAGAACATACGC -3'

Sequencing Primer
(F):5'- CCCGAGATTGATCCCAAGAAGTTTG -3'
(R):5'- AGAAAAGAACATACGCAGTCTTTAC -3'
Posted On 2018-08-29