Incidental Mutation 'R3808:Rassf2'
ID 275022
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 040765-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.252) question?
Stock # R3808 (G1)
Quality Score 218
Status Not validated
Chromosome 2
Chromosomal Location 131834770-131872336 bp(-) (GRCm39)
Type of Mutation splice site (4654 bp from exon)
DNA Base Change (assembly) T to C at 131840180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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: E299G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000028814
Gene: ENSMUSG00000027339
AA Change: E299G

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: E299G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000099471
Gene: ENSMUSG00000027339
AA Change: E299G

DomainStartEndE-ValueType
RA 174 265 5.33e-18 SMART
Pfam:Nore1-SARAH 277 316 3.9e-18 PFAM
Predicted Effect probably null
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: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.8%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Aldh3a2 G T 11: 61,149,623 (GRCm39) L248M probably damaging Het
Als2 A G 1: 59,209,609 (GRCm39) S1458P probably benign Het
Aoc1l3 C T 6: 48,964,928 (GRCm39) P312L possibly damaging Het
Arhgap5 A G 12: 52,613,970 (GRCm39) E192G possibly damaging Het
Atg2a A G 19: 6,302,846 (GRCm39) K1019R possibly damaging Het
Atp2b1 A G 10: 98,839,010 (GRCm39) K613E possibly damaging Het
Carm1 T C 9: 21,498,258 (GRCm39) C421R probably damaging Het
Cdh17 A T 4: 11,795,671 (GRCm39) Y417F probably damaging Het
Cers1 A G 8: 70,782,660 (GRCm39) D10G possibly damaging Het
Clptm1l A C 13: 73,760,573 (GRCm39) M319L probably benign Het
Cntnap3 A G 13: 64,929,618 (GRCm39) V527A probably damaging Het
Creb3l2 A G 6: 37,332,625 (GRCm39) S290P probably damaging Het
Dock4 T G 12: 40,722,809 (GRCm39) V305G probably damaging Het
Dtl A C 1: 191,280,466 (GRCm39) L356R probably damaging Het
Eftud2 A T 11: 102,732,289 (GRCm39) probably null Het
Eif2b4 A G 5: 31,348,512 (GRCm39) S88P possibly damaging Het
Fat4 T G 3: 39,036,587 (GRCm39) V3413G possibly damaging Het
Fgfr2 T C 7: 129,801,578 (GRCm39) M218V probably benign Het
Grin2b A G 6: 135,900,269 (GRCm39) L204P probably damaging Het
Kcnj12 A G 11: 60,961,103 (GRCm39) N467S probably benign Het
Klhdc3 T A 17: 46,988,858 (GRCm39) N111Y possibly damaging Het
Lin9 A G 1: 180,486,676 (GRCm39) I81V probably null Het
Lrp2 T C 2: 69,331,892 (GRCm39) D1621G probably damaging Het
Lrp4 T A 2: 91,307,047 (GRCm39) D389E probably damaging Het
Med15 C T 16: 17,473,598 (GRCm39) probably benign Het
Nbea T C 3: 55,625,269 (GRCm39) N2274S probably benign Het
Nr3c2 G A 8: 77,635,343 (GRCm39) G148D probably damaging Het
Or10s1 A T 9: 39,985,605 (GRCm39) M5L probably benign Het
Or14j6 T C 17: 38,214,464 (GRCm39) V9A probably benign Het
Or4c112 G T 2: 88,853,770 (GRCm39) H192Q probably benign Het
Paxip1 A G 5: 27,977,027 (GRCm39) probably benign Het
Pfas T C 11: 68,880,779 (GRCm39) probably benign Het
Plin3 C A 17: 56,593,275 (GRCm39) A96S probably damaging Het
Pnck T A X: 72,700,550 (GRCm39) I288F probably damaging Het
Ppp4c C T 7: 126,386,499 (GRCm39) G166D probably damaging Het
Prss43 A T 9: 110,656,840 (GRCm39) R115S probably damaging Het
Rdh16f1 T A 10: 127,624,568 (GRCm39) D135E probably benign Het
Rdh16f1 G A 10: 127,624,569 (GRCm39) V136M probably damaging Het
Rgs12 A G 5: 35,189,698 (GRCm39) E702G probably damaging Het
Rnf213 A G 11: 119,370,384 (GRCm39) K4728E probably damaging Het
Ros1 T G 10: 51,996,944 (GRCm39) T1243P probably benign Het
Sall1 G A 8: 89,758,101 (GRCm39) Q668* probably null Het
Sbf2 C A 7: 110,088,487 (GRCm39) *45L probably null Het
Serpina3j A T 12: 104,286,086 (GRCm39) I414F probably benign Het
Sh2d3c T C 2: 32,636,108 (GRCm39) Y159H probably damaging Het
Slamf1 A G 1: 171,625,745 (GRCm39) D307G probably null Het
Slc22a13 T C 9: 119,025,143 (GRCm39) T178A probably benign Het
Smchd1 A T 17: 71,736,536 (GRCm39) L588H probably damaging Het
Trim12a G A 7: 103,956,201 (GRCm39) A113V probably benign Het
Vil1 T C 1: 74,466,772 (GRCm39) V654A probably benign Het
Vmn1r202 T C 13: 22,686,070 (GRCm39) T116A possibly damaging Het
Zfp267 T G 3: 36,219,792 (GRCm39) probably null Het
Zfp607a G A 7: 27,578,826 (GRCm39) R632H 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
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
Predicted Primers PCR Primer
(F):5'- ATGCCCTGTCTGAGATCTGG -3'
(R):5'- CTCATGCAGATGTGACCAGC -3'

Sequencing Primer
(F):5'- AGATCTGGGTCTGTCAGTGGAC -3'
(R):5'- AGATGTGACCAGCCTGGGAC -3'
Posted On 2015-04-02