Incidental Mutation 'R6545:Rassf2'
ID 521075
Institutional Source Beutler Lab
Gene Symbol Rassf2
Ensembl Gene ENSMUSG00000027339
Gene Name Ras association (RalGDS/AF-6) domain family member 2
Synonyms 3830431H01Rik, 9030412M04Rik
MMRRC Submission 044671-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.252) question?
Stock # R6545 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 131834770-131872336 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 131840237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 280 (M280K)
Ref Sequence ENSEMBL: ENSMUSP00000099471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028814] [ENSMUST00000103182] [ENSMUST00000139047]
AlphaFold Q8BMS9
Predicted Effect probably damaging
Transcript: ENSMUST00000028814
AA Change: M280K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028814
Gene: ENSMUSG00000027339
AA Change: M280K

DomainStartEndE-ValueType
RA 174 265 5.33e-18 SMART
coiled coil region 292 312 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000103182
AA Change: M280K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099471
Gene: ENSMUSG00000027339
AA Change: M280K

DomainStartEndE-ValueType
RA 174 265 5.33e-18 SMART
Pfam:Nore1-SARAH 277 316 3.9e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139047
SMART Domains Protein: ENSMUSP00000120194
Gene: ENSMUSG00000027339

DomainStartEndE-ValueType
Blast:RA 174 202 2e-12 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155829
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 95% (42/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a Ras association domain. Similar to its cattle and sheep counterparts, this gene is located near the prion gene. Two alternatively spliced transcripts encoding the same isoform have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit bone defects and hematopoeitic abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago1 C T 4: 126,348,145 (GRCm39) A58T possibly damaging Het
Ago4 T A 4: 126,405,811 (GRCm39) Q366L probably benign Het
Card10 C A 15: 78,661,010 (GRCm39) G950V probably damaging Het
Ceacam1 A T 7: 25,173,279 (GRCm39) V303D probably damaging Het
Cfap54 C T 10: 92,672,319 (GRCm39) R2917H probably benign Het
Cit A G 5: 115,984,493 (GRCm39) S22G probably null Het
Cog4 A G 8: 111,607,577 (GRCm39) E666G probably damaging Het
Crocc2 A G 1: 93,140,659 (GRCm39) D1103G probably benign Het
Cttnbp2 A T 6: 18,405,278 (GRCm39) probably null Het
Dctn3 T C 4: 41,723,084 (GRCm39) E16G probably damaging Het
Dnah6 A G 6: 73,021,715 (GRCm39) S3536P probably damaging Het
Eef2 T A 10: 81,016,948 (GRCm39) I675N probably damaging Het
Gga3 A G 11: 115,477,995 (GRCm39) F531S possibly damaging Het
Gm19410 A G 8: 36,257,652 (GRCm39) R697G possibly damaging Het
Gm3173 T A 14: 15,728,395 (GRCm39) M18K possibly damaging Het
Gm5800 A T 14: 51,949,419 (GRCm39) S175R possibly damaging Het
Gria2 T C 3: 80,648,451 (GRCm39) K95R probably damaging Het
Gstm6 A G 3: 107,849,681 (GRCm39) I76T probably damaging Het
Harbi1 T G 2: 91,542,640 (GRCm39) Y34D probably damaging Het
Hectd2 C A 19: 36,564,778 (GRCm39) Q20K probably benign Het
Inpp5f C A 7: 128,296,280 (GRCm39) A250D possibly damaging Het
Irf9 T C 14: 55,842,684 (GRCm39) F59L probably damaging Het
Itgam T A 7: 127,707,044 (GRCm39) M625K probably damaging Het
Kcnh5 C T 12: 75,054,432 (GRCm39) R504Q probably damaging Het
Lama2 T C 10: 27,052,793 (GRCm39) T1389A probably benign Het
Lin54 T A 5: 100,632,996 (GRCm39) probably null Het
Mettl23 A G 11: 116,740,042 (GRCm39) D171G possibly damaging Het
Mgll A G 6: 88,802,685 (GRCm39) N296S probably benign Het
Mpv17 T A 5: 31,302,041 (GRCm39) probably benign Het
Myof A T 19: 37,930,745 (GRCm39) M1001K possibly damaging Het
Myom1 A T 17: 71,389,300 (GRCm39) Q850L probably benign Het
Or10ab5 A T 7: 108,245,662 (GRCm39) N40K probably damaging Het
Pias2 A G 18: 77,217,781 (GRCm39) I328V possibly damaging Het
Polh G A 17: 46,493,685 (GRCm39) P311S possibly damaging Het
Prss34 A T 17: 25,517,809 (GRCm39) R61S probably benign Het
Rpsa A G 9: 119,959,323 (GRCm39) H47R probably benign Het
Rtp3 A G 9: 110,815,894 (GRCm39) V219A possibly damaging Het
Smarcc2 T C 10: 128,319,997 (GRCm39) I790T probably benign Het
Stag3 A G 5: 138,296,614 (GRCm39) T491A possibly damaging Het
Svil C T 18: 5,108,621 (GRCm39) H2007Y probably benign Het
Togaram1 T G 12: 65,024,981 (GRCm39) C750G possibly damaging Het
Vmn2r13 A T 5: 109,304,806 (GRCm39) probably null Het
Vmn2r4 A T 3: 64,313,777 (GRCm39) D401E possibly damaging Het
Wdr97 C T 15: 76,247,578 (GRCm39) R1585C probably damaging Het
Wsb1 A T 11: 79,141,881 (GRCm39) D45E probably damaging Het
Zfp808 T A 13: 62,319,709 (GRCm39) Y313N probably benign Het
Other mutations in Rassf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01991:Rassf2 APN 2 131,842,352 (GRCm39) critical splice donor site probably null
IGL02142:Rassf2 APN 2 131,838,353 (GRCm39) missense possibly damaging 0.69
IGL02694:Rassf2 APN 2 131,851,641 (GRCm39) missense possibly damaging 0.91
IGL02727:Rassf2 APN 2 131,846,307 (GRCm39) missense probably benign 0.11
R0722:Rassf2 UTSW 2 131,844,830 (GRCm39) missense probably damaging 1.00
R2326:Rassf2 UTSW 2 131,842,352 (GRCm39) critical splice donor site probably null
R2508:Rassf2 UTSW 2 131,840,163 (GRCm39) critical splice donor site probably null
R3808:Rassf2 UTSW 2 131,840,180 (GRCm39) splice site probably null
R3809:Rassf2 UTSW 2 131,840,180 (GRCm39) splice site probably null
R4077:Rassf2 UTSW 2 131,854,522 (GRCm39) missense probably benign
R4085:Rassf2 UTSW 2 131,846,299 (GRCm39) missense probably damaging 1.00
R4285:Rassf2 UTSW 2 131,847,314 (GRCm39) missense probably benign 0.17
R4721:Rassf2 UTSW 2 131,846,358 (GRCm39) missense probably benign
R4762:Rassf2 UTSW 2 131,844,783 (GRCm39) unclassified probably benign
R5012:Rassf2 UTSW 2 131,851,610 (GRCm39) missense probably damaging 1.00
R6788:Rassf2 UTSW 2 131,844,845 (GRCm39) missense probably damaging 1.00
R7232:Rassf2 UTSW 2 131,838,332 (GRCm39) missense probably damaging 1.00
R7711:Rassf2 UTSW 2 131,847,297 (GRCm39) missense probably benign 0.04
R9332:Rassf2 UTSW 2 131,846,326 (GRCm39) missense probably damaging 0.99
X0063:Rassf2 UTSW 2 131,840,174 (GRCm39) missense probably damaging 1.00
Z1177:Rassf2 UTSW 2 131,846,289 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ATCTGGGTCTGTCAGTGGAC -3'
(R):5'- AACCTCCTCATGCAGATGTGAC -3'

Sequencing Primer
(F):5'- GTGGACACACCCCCAGC -3'
(R):5'- TCATGCAGATGTGACCAGCCTG -3'
Posted On 2018-06-06