Incidental Mutation 'IGL02727:Rassf2'
ID305263
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rassf2
Ensembl Gene ENSMUSG00000027339
Gene NameRas association (RalGDS/AF-6) domain family member 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.213) question?
Stock #IGL02727
Quality Score
Status
Chromosome2
Chromosomal Location131989415-132030258 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 132004387 bp
ZygosityHeterozygous
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]
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: 53,187,565 T13A probably benign Het
Aldh1l2 T A 10: 83,506,605 K447I probably damaging Het
Ankrd17 A G 5: 90,244,292 S1840P possibly damaging Het
Ash1l A G 3: 89,023,037 I1940M probably benign Het
Bfar T G 16: 13,688,927 probably null Het
Bicra G T 7: 15,979,465 H937Q possibly damaging Het
Brip1 A T 11: 86,152,736 M334K probably benign Het
Camsap2 T G 1: 136,304,312 M182L probably benign Het
Ccdc144b T A 3: 36,032,916 R176S possibly damaging Het
Chd6 A T 2: 160,969,463 C1407S probably damaging Het
Cmya5 A G 13: 93,098,245 S112P possibly damaging Het
Csmd1 A T 8: 16,231,327 V728E probably damaging Het
Cyp2j6 T A 4: 96,545,764 Q103L probably benign Het
Ddias A T 7: 92,866,622 I21K probably damaging Het
Derl2 A C 11: 71,013,210 probably benign Het
Dgka A T 10: 128,722,448 probably benign Het
Dusp11 T C 6: 85,961,492 D15G probably damaging Het
Enpp2 T C 15: 54,910,181 D110G probably damaging Het
Fkbp11 A T 15: 98,724,590 V134E probably damaging Het
Gm3248 T C 14: 5,945,036 T49A probably damaging Het
Lrmp T C 6: 145,174,618 S520P possibly damaging Het
Luzp2 T C 7: 55,172,191 probably benign Het
Manea T A 4: 26,328,126 E305V probably damaging Het
Manea C A 4: 26,328,127 E305* probably null Het
Megf6 A G 4: 154,253,149 probably null Het
Mrpl3 G T 9: 105,054,527 D59Y probably damaging Het
Myh9 T C 15: 77,791,742 Y248C probably benign Het
Nbeal2 G A 9: 110,639,285 probably benign Het
Olfr1386 G T 11: 49,471,066 G305V probably benign Het
Olfr161 T A 16: 3,593,326 I310K probably benign Het
Olfr713 G T 7: 107,036,695 C180F probably damaging Het
Olfr889 A G 9: 38,116,512 T239A probably damaging Het
Pax8 C A 2: 24,441,630 C147F probably damaging Het
Phf12 T C 11: 78,023,667 V96A possibly damaging Het
Psg18 A T 7: 18,345,950 I442K probably damaging Het
Pygl T A 12: 70,207,668 probably null Het
Rdh7 A T 10: 127,887,618 W123R probably damaging Het
Saal1 T C 7: 46,689,799 probably null Het
Sall1 T C 8: 89,030,755 D907G probably damaging Het
Spag1 T A 15: 36,234,818 F876I probably damaging Het
Syncrip G A 9: 88,479,879 A61V probably damaging Het
Trbv3 A T 6: 41,048,642 K55N probably benign Het
Vmn1r178 A G 7: 23,894,446 probably null Het
Vmn2r84 T C 10: 130,394,126 D39G possibly damaging Het
Other mutations in Rassf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01991:Rassf2 APN 2 132000432 critical splice donor site probably null
IGL02142:Rassf2 APN 2 131996433 missense possibly damaging 0.69
IGL02694:Rassf2 APN 2 132009721 missense possibly damaging 0.91
R0722:Rassf2 UTSW 2 132002910 missense probably damaging 1.00
R2326:Rassf2 UTSW 2 132000432 critical splice donor site probably null
R2508:Rassf2 UTSW 2 131998243 critical splice donor site probably null
R3808:Rassf2 UTSW 2 131998260 unclassified probably null
R3809:Rassf2 UTSW 2 131998260 unclassified probably null
R4077:Rassf2 UTSW 2 132012602 missense probably benign
R4085:Rassf2 UTSW 2 132004379 missense probably damaging 1.00
R4285:Rassf2 UTSW 2 132005394 missense probably benign 0.17
R4721:Rassf2 UTSW 2 132004438 missense probably benign
R4762:Rassf2 UTSW 2 132002863 unclassified probably benign
R5012:Rassf2 UTSW 2 132009690 missense probably damaging 1.00
R6545:Rassf2 UTSW 2 131998317 missense probably damaging 0.98
R6788:Rassf2 UTSW 2 132002925 missense probably damaging 1.00
R7232:Rassf2 UTSW 2 131996412 missense probably damaging 1.00
R7711:Rassf2 UTSW 2 132005377 missense probably benign 0.04
X0063:Rassf2 UTSW 2 131998254 missense probably damaging 1.00
Posted On2015-04-16