Incidental Mutation 'R5490:Rassf5'
ID 432020
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 043051-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R5490 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 131104147-131172915 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 131108932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 163 (Q163L)
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 benign
Transcript: ENSMUST00000027688
AA Change: Q311L

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000027688
Gene: ENSMUSG00000026430
AA Change: Q311L

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 possibly damaging
Transcript: ENSMUST00000068564
AA Change: Q163L

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000067011
Gene: ENSMUSG00000026430
AA Change: Q163L

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 benign
Transcript: ENSMUST00000112442
SMART Domains Protein: ENSMUSP00000108061
Gene: ENSMUSG00000026430

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 possibly damaging
Transcript: ENSMUST00000212202
AA Change: Q211L

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.8%
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf C T 11: 84,401,099 (GRCm39) G174D probably damaging Het
Abcc1 G T 16: 14,228,781 (GRCm39) G343C probably damaging Het
Asic2 T C 11: 80,780,646 (GRCm39) N370S probably benign Het
Btnl9 T C 11: 49,060,395 (GRCm39) E451G probably damaging Het
Cblb A G 16: 51,994,733 (GRCm39) H658R possibly damaging Het
Cdca2 T C 14: 67,917,733 (GRCm39) E555G possibly damaging Het
Chfr A G 5: 110,300,995 (GRCm39) S299G possibly damaging Het
Eea1 A G 10: 95,861,916 (GRCm39) E741G probably benign Het
Gapvd1 T C 2: 34,583,445 (GRCm39) D1057G probably benign Het
Glyat C T 19: 12,627,645 (GRCm39) T80M probably benign Het
Gpr87 T C 3: 59,086,747 (GRCm39) S253G probably damaging Het
Hapstr1 T A 16: 8,673,721 (GRCm39) V216E probably damaging Het
Hmgxb3 A G 18: 61,296,049 (GRCm39) S320P probably damaging Het
Kcnq5 C T 1: 21,549,692 (GRCm39) G345D probably damaging Het
Kif5c T C 2: 49,648,870 (GRCm39) V938A probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Madd G T 2: 91,000,980 (GRCm39) T467K possibly damaging Het
Mamdc4 T C 2: 25,455,890 (GRCm39) D706G probably damaging Het
Map2 A G 1: 66,452,292 (GRCm39) H476R probably damaging Het
Mgat4f A G 1: 134,317,666 (GRCm39) D146G probably damaging Het
Mpeg1 T C 19: 12,439,057 (GRCm39) S172P probably damaging Het
Nkx2-3 A T 19: 43,601,093 (GRCm39) T52S probably benign Het
Nup210 C T 6: 91,062,970 (GRCm39) V230I probably damaging Het
Or1j19 T A 2: 36,677,193 (GRCm39) Y219N probably damaging Het
Or51f2 T C 7: 102,527,100 (GRCm39) S258P probably damaging Het
Or5g9 G T 2: 85,552,666 (GRCm39) A306S probably benign Het
Pepd A G 7: 34,642,115 (GRCm39) probably null Het
Ppp1r36 T A 12: 76,484,760 (GRCm39) W238R probably damaging Het
Ppp1r36 G T 12: 76,484,761 (GRCm39) W238L possibly damaging Het
Prpf6 T G 2: 181,249,958 (GRCm39) D39E probably benign Het
Rbm43 T A 2: 51,815,607 (GRCm39) T205S probably benign Het
Relch T A 1: 105,647,226 (GRCm39) V672D probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sds C A 5: 120,621,715 (GRCm39) Q286K possibly damaging Het
Slc35a3 A T 3: 116,474,839 (GRCm39) C184* probably null Het
Smg1 G A 7: 117,738,659 (GRCm39) T3530I possibly damaging Het
Sspo T C 6: 48,470,214 (GRCm39) V591A probably benign Het
Stam2 T C 2: 52,610,929 (GRCm39) D31G probably damaging Het
Star A G 8: 26,299,945 (GRCm39) K96E probably damaging Het
Syne3 A G 12: 104,921,931 (GRCm39) L495P probably damaging Het
Tceanc2 A T 4: 107,022,846 (GRCm39) M47K probably benign Het
Tecpr2 T C 12: 110,881,118 (GRCm39) L85P probably damaging Het
Tmem241 C T 18: 12,176,320 (GRCm39) R116K probably benign Het
Yipf2 G A 9: 21,503,487 (GRCm39) A20V probably benign Het
Zc3h4 T A 7: 16,162,930 (GRCm39) D443E unknown Het
Zfp184 T A 13: 22,142,747 (GRCm39) V151D probably benign Het
Zhx1 T C 15: 57,916,695 (GRCm39) Y517C probably 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
R0727:Rassf5 UTSW 1 131,109,002 (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
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'- TAGAGATTAGGAGCCCAGAGCC -3'
(R):5'- CCCAGTCCATCTATGATGCC -3'

Sequencing Primer
(F):5'- AGCCCAGGGTGTGTCTTTCC -3'
(R):5'- CCAGTCCATCTATGATGCCATTAAGG -3'
Posted On 2016-10-05