Incidental Mutation 'R0727:Rassf5'
ID 200621
Institutional Source Beutler Lab
Gene Symbol Rassf5
Ensembl Gene ENSMUSG00000026430
Gene Name Ras association (RalGDS/AF-6) domain family member 5
Synonyms Rapl, 1300019G20Rik, Nore1A, Nore1B
MMRRC Submission 038909-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R0727 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 131104147-131172915 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 131109002 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 140 (S140G)
Ref Sequence ENSEMBL: ENSMUSP00000067011 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027688] [ENSMUST00000068564] [ENSMUST00000068791] [ENSMUST00000112442] [ENSMUST00000131855] [ENSMUST00000151874] [ENSMUST00000212202]
AlphaFold Q5EBH1
Predicted Effect probably damaging
Transcript: ENSMUST00000027688
AA Change: S288G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027688
Gene: ENSMUSG00000026430
AA Change: S288G

DomainStartEndE-ValueType
low complexity region 31 39 N/A INTRINSIC
low complexity region 49 67 N/A INTRINSIC
low complexity region 76 90 N/A INTRINSIC
C1 116 165 6.29e-8 SMART
RA 267 359 1.07e-22 SMART
Pfam:Nore1-SARAH 366 405 1.1e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000068564
AA Change: S140G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067011
Gene: ENSMUSG00000026430
AA Change: S140G

DomainStartEndE-ValueType
RA 119 211 1.07e-22 SMART
PDB:4LGD|H 212 260 5e-25 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000068791
SMART Domains Protein: ENSMUSP00000067461
Gene: ENSMUSG00000026427

DomainStartEndE-ValueType
PUA 99 173 1.07e-5 SMART
low complexity region 297 306 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112442
AA Change: S288G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108061
Gene: ENSMUSG00000026430
AA Change: S288G

DomainStartEndE-ValueType
low complexity region 31 39 N/A INTRINSIC
low complexity region 49 67 N/A INTRINSIC
low complexity region 76 90 N/A INTRINSIC
C1 116 165 6.29e-8 SMART
PDB:3DDC|B 198 301 7e-62 PDB
Blast:RA 267 294 5e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000131855
SMART Domains Protein: ENSMUSP00000137678
Gene: ENSMUSG00000026427

DomainStartEndE-ValueType
PUA 99 173 1.07e-5 SMART
low complexity region 297 306 N/A INTRINSIC
Pfam:SUI1 472 554 8.7e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151874
SMART Domains Protein: ENSMUSP00000138061
Gene: ENSMUSG00000026427

DomainStartEndE-ValueType
PUA 99 173 1.07e-5 SMART
low complexity region 297 306 N/A INTRINSIC
Pfam:SUI1 472 556 1e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000212202
AA Change: S188G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.7017 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.1%
Validation Efficiency 99% (70/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Ras association domain family. It functions as a tumor suppressor, and is inactivated in a variety of cancers. The encoded protein localizes to centrosomes and microtubules, and associates with the GTP-activated forms of Ras, Rap1, and several other Ras-like small GTPases. The protein regulates lymphocyte adhesion and suppresses cell growth in response to activated Rap1 or Ras. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele have defects in lymphocyte homing to lymphoid tissues, B cell maturation and dendritic cell function, and display lymphocyte hyperproliferation leading to lupus glomerulonephritis and lymphomas. Homozygotes for another null allele are resistant to TNF-induced apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3b T C 5: 26,016,937 (GRCm39) V83A possibly damaging Het
Adam2 A G 14: 66,267,180 (GRCm39) I693T probably damaging Het
Adamts1 T C 16: 85,595,536 (GRCm39) D214G possibly damaging Het
Atp6v1h T A 1: 5,154,781 (GRCm39) Y36* probably null Het
Cacna1d A G 14: 29,852,072 (GRCm39) probably null Het
Catsperb G T 12: 101,560,614 (GRCm39) probably null Het
Ccdc88b T C 19: 6,831,582 (GRCm39) M482V probably benign Het
Cemip T C 7: 83,610,786 (GRCm39) K723E probably benign Het
Cep112 G A 11: 108,397,380 (GRCm39) R375H probably damaging Het
Cpne7 T C 8: 123,853,025 (GRCm39) S211P probably damaging Het
Csde1 A G 3: 102,950,954 (GRCm39) T191A probably benign Het
Dapk3 A G 10: 81,026,096 (GRCm39) Y129C probably damaging Het
Dlc1 A G 8: 37,039,828 (GRCm39) V1027A probably damaging Het
Ergic2 T A 6: 148,100,898 (GRCm39) probably benign Het
Evpl T C 11: 116,123,311 (GRCm39) H307R probably damaging Het
Faah A G 4: 115,862,257 (GRCm39) I242T probably damaging Het
Farsa T A 8: 85,587,933 (GRCm39) probably null Het
Fat3 A C 9: 15,907,995 (GRCm39) L2669R probably damaging Het
Fgfr4 C A 13: 55,304,041 (GRCm39) probably null Het
Gnl3 A G 14: 30,739,034 (GRCm39) S55P probably damaging Het
Grhl3 T A 4: 135,273,565 (GRCm39) K562N possibly damaging Het
H2bl1 A G 13: 99,120,735 (GRCm39) V97A probably benign Het
Hoxa9 A G 6: 52,201,294 (GRCm39) V249A probably damaging Het
Hyal1 T C 9: 107,455,601 (GRCm39) S304P possibly damaging Het
Igf1r T C 7: 67,861,906 (GRCm39) probably null Het
Kif3c A G 12: 3,416,776 (GRCm39) T266A probably benign Het
Lrp1b T C 2: 40,640,956 (GRCm39) D3496G probably benign Het
Man2b1 T G 8: 85,818,155 (GRCm39) V442G probably damaging Het
Mast1 T C 8: 85,648,044 (GRCm39) Y479C probably damaging Het
Mei1 A G 15: 81,954,350 (GRCm39) T52A probably benign Het
Micall1 A G 15: 79,004,978 (GRCm39) D150G probably benign Het
Muc4 A G 16: 32,590,221 (GRCm39) M2927V probably benign Het
Obi1 G C 14: 104,717,624 (GRCm39) L250V probably damaging Het
Or11h6 G T 14: 50,880,460 (GRCm39) V241L probably damaging Het
Or56b1b C T 7: 108,164,315 (GRCm39) R229H probably benign Het
Or5an10 T C 19: 12,276,458 (GRCm39) I13V probably benign Het
Or5w22 T A 2: 87,363,245 (GRCm39) Y289* probably null Het
Or8k27 T C 2: 86,276,282 (GRCm39) M15V probably benign Het
Or8k35 A T 2: 86,424,724 (GRCm39) Y149* probably null Het
Pabpc2 A C 18: 39,908,187 (GRCm39) Q484P probably benign Het
Pbld2 T A 10: 62,903,298 (GRCm39) V125D probably benign Het
Pkhd1l1 A G 15: 44,399,184 (GRCm39) T2083A possibly damaging Het
Pum2 A G 12: 8,794,465 (GRCm39) E785G probably damaging Het
Qser1 A G 2: 104,607,656 (GRCm39) probably benign Het
R3hcc1l A G 19: 42,564,514 (GRCm39) D29G probably damaging Het
Rabep1 T A 11: 70,791,318 (GRCm39) Y180* probably null Het
Rbpms2 ACTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 9: 65,558,948 (GRCm39) probably benign Het
Resf1 A G 6: 149,227,320 (GRCm39) N122S possibly damaging Het
Rfpl4 T A 7: 5,118,292 (GRCm39) I93L probably benign Het
Ryr2 C T 13: 11,581,771 (GRCm39) G4798D probably damaging Het
Scaf11 G A 15: 96,317,324 (GRCm39) P747S probably damaging Het
Sgo2b T G 8: 64,380,816 (GRCm39) K672T probably damaging Het
Smg1 T C 7: 117,765,645 (GRCm39) probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Ssh3 G T 19: 4,314,019 (GRCm39) H439Q probably damaging Het
Steap3 T A 1: 120,155,547 (GRCm39) T471S possibly damaging Het
Stk33 T A 7: 108,920,725 (GRCm39) I208L probably damaging Het
Sucnr1 A G 3: 59,994,081 (GRCm39) Y203C probably benign Het
Tlr11 T C 14: 50,598,926 (GRCm39) I304T possibly damaging Het
Top2a A T 11: 98,902,974 (GRCm39) C404* probably null Het
Trim43a G A 9: 88,464,199 (GRCm39) E37K probably benign Het
Zcwpw1 T C 5: 137,809,069 (GRCm39) probably benign Het
Zfhx4 A T 3: 5,466,133 (GRCm39) H2097L probably damaging Het
Zfp874b T C 13: 67,622,831 (GRCm39) K156E probably damaging Het
Zfyve16 T C 13: 92,630,386 (GRCm39) K1413E possibly damaging Het
Other mutations in Rassf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02728:Rassf5 APN 1 131,108,336 (GRCm39) missense probably damaging 0.96
IGL03055:Rassf5 UTSW 1 131,172,732 (GRCm39) missense probably benign 0.00
R0464:Rassf5 UTSW 1 131,139,998 (GRCm39) missense probably benign 0.00
R0589:Rassf5 UTSW 1 131,172,720 (GRCm39) missense probably damaging 0.99
R0634:Rassf5 UTSW 1 131,172,693 (GRCm39) missense probably damaging 0.99
R0639:Rassf5 UTSW 1 131,172,803 (GRCm39) missense probably damaging 1.00
R1926:Rassf5 UTSW 1 131,140,076 (GRCm39) missense probably damaging 1.00
R2310:Rassf5 UTSW 1 131,172,477 (GRCm39) missense probably damaging 1.00
R5354:Rassf5 UTSW 1 131,108,385 (GRCm39) missense probably benign 0.00
R5422:Rassf5 UTSW 1 131,108,911 (GRCm39) missense possibly damaging 0.87
R5490:Rassf5 UTSW 1 131,108,932 (GRCm39) missense possibly damaging 0.95
R6189:Rassf5 UTSW 1 131,172,716 (GRCm39) missense probably damaging 1.00
R6328:Rassf5 UTSW 1 131,108,405 (GRCm39) missense probably damaging 1.00
R6531:Rassf5 UTSW 1 131,172,551 (GRCm39) missense possibly damaging 0.93
R6759:Rassf5 UTSW 1 131,109,988 (GRCm39) missense probably benign 0.08
R7115:Rassf5 UTSW 1 131,108,986 (GRCm39) missense probably benign 0.21
R7350:Rassf5 UTSW 1 131,106,273 (GRCm39) missense possibly damaging 0.75
R7910:Rassf5 UTSW 1 131,108,366 (GRCm39) missense probably benign 0.15
R8286:Rassf5 UTSW 1 131,140,067 (GRCm39) missense possibly damaging 0.73
R8706:Rassf5 UTSW 1 131,172,782 (GRCm39) missense probably benign 0.00
R8732:Rassf5 UTSW 1 131,106,264 (GRCm39) makesense probably null
R9023:Rassf5 UTSW 1 131,140,077 (GRCm39) missense probably benign 0.07
Z1176:Rassf5 UTSW 1 131,109,954 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCATGAATCCTGCTGCCTGGAAG -3'
(R):5'- CAGAGTGAAGATGGCACCTACACAG -3'

Sequencing Primer
(F):5'- CCACCCAGGACTGATAGTGAG -3'
(R):5'- GATGGCACCTACACAGGTTTC -3'
Posted On 2014-05-23