Incidental Mutation 'R2911:Reep2'
ID 261273
Institutional Source Beutler Lab
Gene Symbol Reep2
Ensembl Gene ENSMUSG00000038555
Gene Name receptor accessory protein 2
Synonyms
MMRRC Submission 040498-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R2911 (G1)
Quality Score 217
Status Not validated
Chromosome 18
Chromosomal Location 34973642-34980516 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 34978743 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000036065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043484]
AlphaFold Q8VCD6
Predicted Effect probably null
Transcript: ENSMUST00000043484
SMART Domains Protein: ENSMUSP00000036065
Gene: ENSMUSG00000038555

DomainStartEndE-ValueType
Pfam:TB2_DP1_HVA22 7 95 1.4e-36 PFAM
low complexity region 129 138 N/A INTRINSIC
Meta Mutation Damage Score 0.9496 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the receptor expression enhancing protein family. Studies of a related gene in mouse suggest that the encoded protein is found in the cell membrane and enhances the function of sweet taste receptors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 A G 16: 20,378,982 (GRCm39) T645A probably damaging Het
Adam10 C T 9: 70,626,005 (GRCm39) S91L probably damaging Het
Ahnak A G 19: 8,989,018 (GRCm39) D3434G probably damaging Het
Ankrd11 A T 8: 123,635,537 (GRCm39) D32E probably damaging Het
Cacna1b A T 2: 24,497,553 (GRCm39) probably null Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cep104 T A 4: 154,079,884 (GRCm39) probably null Het
Clstn2 A G 9: 97,414,775 (GRCm39) V373A probably damaging Het
Cyp2c65 T G 19: 39,076,126 (GRCm39) I359M probably damaging Het
Cyp4a12b A T 4: 115,290,723 (GRCm39) K282* probably null Het
Ddx1 C T 12: 13,281,441 (GRCm39) probably null Het
Dnah7a A T 1: 53,466,983 (GRCm39) probably null Het
Dzip1l T C 9: 99,537,655 (GRCm39) V419A probably benign Het
Epha3 A C 16: 63,472,775 (GRCm39) V370G probably benign Het
Fbxo38 T C 18: 62,652,878 (GRCm39) D523G probably benign Het
Fryl T C 5: 73,207,799 (GRCm39) D2457G probably damaging Het
Gm379 A C X: 107,708,371 (GRCm39) F43V possibly damaging Het
Grhl3 T C 4: 135,286,457 (GRCm39) I75V probably benign Het
Lcp2 G A 11: 34,018,970 (GRCm39) probably null Het
Lipo3 T A 19: 33,556,767 (GRCm39) I220F probably benign Het
Lrp1b T C 2: 41,396,704 (GRCm39) E340G probably benign Het
Lypd8l G A 11: 58,499,252 (GRCm39) Q189* probably null Het
Mbtps1 A G 8: 120,272,776 (GRCm39) I123T possibly damaging Het
Ndc80 A T 17: 71,807,371 (GRCm39) S528R probably benign Het
Odf2l A C 3: 144,830,084 (GRCm39) I19L probably benign Het
Or10d3 T C 9: 39,462,117 (GRCm39) I17V possibly damaging Het
Or5h25 C T 16: 58,930,544 (GRCm39) R143H probably benign Het
Or7e177 A G 9: 20,211,775 (GRCm39) K94R possibly damaging Het
Pigr A G 1: 130,777,270 (GRCm39) D692G probably damaging Het
Rin3 T G 12: 102,339,843 (GRCm39) S598A probably benign Het
Rreb1 A T 13: 38,132,896 (GRCm39) E1690D probably benign Het
Rubcnl C T 14: 75,278,248 (GRCm39) T344I probably benign Het
Shcbp1l C A 1: 153,304,372 (GRCm39) L144I probably damaging Het
Snx2 C T 18: 53,332,946 (GRCm39) P207S probably damaging Het
Sox17 A T 1: 4,563,354 (GRCm39) D92E probably damaging Het
Spata21 A G 4: 140,830,393 (GRCm39) M288V possibly damaging Het
Sra1 T C 18: 36,809,238 (GRCm39) D273G possibly damaging Het
Syt7 T C 19: 10,420,799 (GRCm39) I448T probably benign Het
Tac1 A G 6: 7,559,097 (GRCm39) probably null Het
Tgs1 C A 4: 3,585,616 (GRCm39) N164K probably benign Het
Tmem72 T A 6: 116,675,292 (GRCm39) I67F possibly damaging Het
Ythdc1 T C 5: 86,964,418 (GRCm39) S88P possibly damaging Het
Other mutations in Reep2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01716:Reep2 APN 18 34,979,302 (GRCm39) missense probably benign
IGL02244:Reep2 APN 18 34,973,807 (GRCm39) unclassified probably benign
R0624:Reep2 UTSW 18 34,973,824 (GRCm39) missense probably benign 0.02
R2005:Reep2 UTSW 18 34,978,674 (GRCm39) missense probably damaging 1.00
R2910:Reep2 UTSW 18 34,978,743 (GRCm39) critical splice donor site probably null
R5642:Reep2 UTSW 18 34,979,271 (GRCm39) missense probably benign
R6709:Reep2 UTSW 18 34,979,263 (GRCm39) missense probably benign 0.10
R7029:Reep2 UTSW 18 34,978,342 (GRCm39) missense probably null 0.22
R8327:Reep2 UTSW 18 34,975,566 (GRCm39) missense probably damaging 0.98
R8944:Reep2 UTSW 18 34,975,929 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- TTTCCTATGGGTGGCCAGAG -3'
(R):5'- TCTGGTCAGATGAGGAAACTGAC -3'

Sequencing Primer
(F):5'- TGCAGTAACCTGGCAGAGC -3'
(R):5'- TCAGATGAGGAAACTGACTAGAC -3'
Posted On 2015-01-23