Incidental Mutation 'IGL02727:Rassf2'
ID 305263
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rassf2
Ensembl Gene ENSMUSG00000027339
Gene Name Ras association (RalGDS/AF-6) domain family member 2
Synonyms 3830431H01Rik, 9030412M04Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.252) question?
Stock # IGL02727
Quality Score
Status
Chromosome 2
Chromosomal Location 131834770-131872336 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 131846307 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 150 (R150L)
Ref Sequence ENSEMBL: ENSMUSP00000120194 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028814] [ENSMUST00000103182] [ENSMUST00000139047]
AlphaFold Q8BMS9
Predicted Effect probably benign
Transcript: ENSMUST00000028814
AA Change: R150L

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000028814
Gene: ENSMUSG00000027339
AA Change: R150L

DomainStartEndE-ValueType
RA 174 265 5.33e-18 SMART
coiled coil region 292 312 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000103182
AA Change: R150L

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000099471
Gene: ENSMUSG00000027339
AA Change: R150L

DomainStartEndE-ValueType
RA 174 265 5.33e-18 SMART
Pfam:Nore1-SARAH 277 316 3.9e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139047
AA Change: R150L

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000120194
Gene: ENSMUSG00000027339
AA Change: R150L

DomainStartEndE-ValueType
Blast:RA 174 202 2e-12 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155829
Coding Region Coverage
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik T C 1: 53,226,724 (GRCm39) T13A probably benign Het
Aldh1l2 T A 10: 83,342,469 (GRCm39) K447I probably damaging Het
Ankrd17 A G 5: 90,392,151 (GRCm39) S1840P possibly damaging Het
Ash1l A G 3: 88,930,344 (GRCm39) I1940M probably benign Het
Bfar T G 16: 13,506,791 (GRCm39) probably null Het
Bicra G T 7: 15,713,390 (GRCm39) H937Q possibly damaging Het
Brip1 A T 11: 86,043,562 (GRCm39) M334K probably benign Het
Camsap2 T G 1: 136,232,050 (GRCm39) M182L probably benign Het
Chd6 A T 2: 160,811,383 (GRCm39) C1407S probably damaging Het
Cmya5 A G 13: 93,234,753 (GRCm39) S112P possibly damaging Het
Csmd1 A T 8: 16,281,341 (GRCm39) V728E probably damaging Het
Cyp2j6 T A 4: 96,434,001 (GRCm39) Q103L probably benign Het
Ddias A T 7: 92,515,830 (GRCm39) I21K probably damaging Het
Derl2 A C 11: 70,904,036 (GRCm39) probably benign Het
Dgka A T 10: 128,558,317 (GRCm39) probably benign Het
Dusp11 T C 6: 85,938,474 (GRCm39) D15G probably damaging Het
Enpp2 T C 15: 54,773,577 (GRCm39) D110G probably damaging Het
Fkbp11 A T 15: 98,622,471 (GRCm39) V134E probably damaging Het
Gm3248 T C 14: 5,945,036 (GRCm38) T49A probably damaging Het
Gm57858 T A 3: 36,087,065 (GRCm39) R176S possibly damaging Het
Irag2 T C 6: 145,120,344 (GRCm39) S520P possibly damaging Het
Luzp2 T C 7: 54,821,939 (GRCm39) probably benign Het
Manea T A 4: 26,328,126 (GRCm39) E305V probably damaging Het
Manea C A 4: 26,328,127 (GRCm39) E305* probably null Het
Megf6 A G 4: 154,337,606 (GRCm39) probably null Het
Mrpl3 G T 9: 104,931,726 (GRCm39) D59Y probably damaging Het
Myh9 T C 15: 77,675,942 (GRCm39) Y248C probably benign Het
Nbeal2 G A 9: 110,468,353 (GRCm39) probably benign Het
Or10a5 G T 7: 106,635,902 (GRCm39) C180F probably damaging Het
Or1f19 T A 16: 3,411,190 (GRCm39) I310K probably benign Het
Or2y1c G T 11: 49,361,893 (GRCm39) G305V probably benign Het
Or8b40 A G 9: 38,027,808 (GRCm39) T239A probably damaging Het
Pax8 C A 2: 24,331,642 (GRCm39) C147F probably damaging Het
Phf12 T C 11: 77,914,493 (GRCm39) V96A possibly damaging Het
Psg18 A T 7: 18,079,875 (GRCm39) I442K probably damaging Het
Pygl T A 12: 70,254,442 (GRCm39) probably null Het
Rdh7 A T 10: 127,723,487 (GRCm39) W123R probably damaging Het
Saal1 T C 7: 46,339,223 (GRCm39) probably null Het
Sall1 T C 8: 89,757,383 (GRCm39) D907G probably damaging Het
Spag1 T A 15: 36,234,964 (GRCm39) F876I probably damaging Het
Syncrip G A 9: 88,361,932 (GRCm39) A61V probably damaging Het
Trbv3 A T 6: 41,025,576 (GRCm39) K55N probably benign Het
Vmn1r178 A G 7: 23,593,871 (GRCm39) probably null Het
Vmn2r84 T C 10: 130,229,995 (GRCm39) D39G possibly damaging 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
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
R6545:Rassf2 UTSW 2 131,840,237 (GRCm39) missense probably damaging 0.98
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
Posted On 2015-04-16