Incidental Mutation 'R0722:Rassf2'
ID63548
Institutional Source Beutler Lab
Gene Symbol Rassf2
Ensembl Gene ENSMUSG00000027339
Gene NameRas association (RalGDS/AF-6) domain family member 2
Synonyms
MMRRC Submission 038904-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.122) question?
Stock #R0722 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location131989415-132030258 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 132002910 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 204 (V204A)
Ref Sequence ENSEMBL: ENSMUSP00000099471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028814] [ENSMUST00000103182] [ENSMUST00000139047]
Predicted Effect probably damaging
Transcript: ENSMUST00000028814
AA Change: V204A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028814
Gene: ENSMUSG00000027339
AA Change: V204A

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: V204A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099471
Gene: ENSMUSG00000027339
AA Change: V204A

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
Meta Mutation Damage Score 0.304 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 91.7%
Validation Efficiency 97% (63/65)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap2 T C 11: 80,156,984 F89L possibly damaging Het
Akr1c13 A G 13: 4,197,932 probably null Het
Atp10a A G 7: 58,816,183 I1053V possibly damaging Het
Bmper G T 9: 23,373,928 V258L probably benign Het
Brd4 T C 17: 32,212,982 H636R possibly damaging Het
Cacna2d4 C T 6: 119,307,286 R745W probably damaging Het
Ccbe1 C T 18: 66,084,806 C112Y probably damaging Het
Ccdc28b T A 4: 129,621,152 probably null Het
Cd320 T C 17: 33,846,030 S46P possibly damaging Het
Cfap44 G A 16: 44,404,676 E95K possibly damaging Het
Clpp T C 17: 56,992,901 V144A probably damaging Het
Crtam A T 9: 40,992,616 C96S probably damaging Het
D3Ertd254e C T 3: 36,165,069 H414Y probably benign Het
Dcst1 C T 3: 89,353,805 R480H probably benign Het
Dock2 A T 11: 34,464,970 probably benign Het
Ermard A G 17: 15,022,128 T189A probably benign Het
Gm10840 A G 11: 106,161,076 probably benign Het
Gm4845 T A 1: 141,256,860 noncoding transcript Het
Heatr1 A G 13: 12,406,037 E403G probably benign Het
Herc4 A G 10: 63,286,065 I399V probably null Het
Htr1f A G 16: 64,925,891 I346T probably damaging Het
Igf2r T C 17: 12,715,495 probably null Het
Jmy G A 13: 93,452,817 T644I probably benign Het
Kcnn2 T C 18: 45,559,476 C40R possibly damaging Het
Krt13 T G 11: 100,119,153 K297T probably damaging Het
Lrba T C 3: 86,605,989 probably null Het
Lrrc8b T C 5: 105,480,112 V108A possibly damaging Het
Lrrc8c T A 5: 105,579,548 V26E probably damaging Het
Olfr478 A G 7: 108,032,334 F3S probably benign Het
Olfr981 A G 9: 40,022,999 D202G probably damaging Het
Pcna A G 2: 132,251,235 probably benign Het
Pgm1 A T 5: 64,107,679 R348* probably null Het
Pikfyve T G 1: 65,253,523 S1378A probably damaging Het
Pkp2 T C 16: 16,247,028 V472A probably benign Het
Pld5 A G 1: 175,975,515 F395L probably benign Het
Plekhb1 A T 7: 100,645,603 Y169N probably damaging Het
Polr2c T A 8: 94,862,637 Y186N probably damaging Het
Ppp1r16a C T 15: 76,693,669 Q328* probably null Het
Prr5l A G 2: 101,717,474 probably benign Het
Ptbp2 C T 3: 119,720,921 R419Q possibly damaging Het
Ralgapa2 A G 2: 146,388,531 V1038A probably damaging Het
Slc22a22 T C 15: 57,256,553 probably null Het
Slit1 T C 19: 41,608,435 Y1075C probably damaging Het
Smc5 C A 19: 23,208,927 L1055F probably damaging Het
Spidr A G 16: 15,912,781 F620S probably damaging Het
Susd1 A G 4: 59,379,749 S293P possibly damaging Het
Tepsin A G 11: 120,095,337 probably benign Het
Vmn2r68 A T 7: 85,221,586 L830I possibly damaging Het
Vtn A G 11: 78,500,854 probably benign Het
Wdr66 T A 5: 123,256,185 V379E probably damaging Het
Zfp280d T G 9: 72,312,101 S162A possibly damaging Het
Zfp608 T G 18: 54,900,234 K409T probably damaging Het
Zfp738 A T 13: 67,671,524 M116K probably benign 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
IGL02727:Rassf2 APN 2 132004387 missense probably benign 0.11
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
X0063:Rassf2 UTSW 2 131998254 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAAGAACTGAGGGCGTTGTTGC -3'
(R):5'- GGACCACTTCATCTACATTGAAGGCTG -3'

Sequencing Primer
(F):5'- ggcatttgagcccaggag -3'
(R):5'- CATCTACATTGAAGGCTGATGCTG -3'
Posted On2013-07-30