Incidental Mutation 'R7029:Reep2'
ID 546207
Institutional Source Beutler Lab
Gene Symbol Reep2
Ensembl Gene ENSMUSG00000038555
Gene Name receptor accessory protein 2
Synonyms
MMRRC Submission 045130-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R7029 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 34973642-34980516 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34978342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 74 (I74V)
Ref Sequence ENSEMBL: ENSMUSP00000036065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043484]
AlphaFold Q8VCD6
Predicted Effect probably null
Transcript: ENSMUST00000043484
AA Change: I74V

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000036065
Gene: ENSMUSG00000038555
AA Change: I74V

DomainStartEndE-ValueType
Pfam:TB2_DP1_HVA22 7 95 1.4e-36 PFAM
low complexity region 129 138 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T C 6: 146,853,841 (GRCm39) Q271R probably benign Het
Abhd4 T A 14: 54,500,164 (GRCm39) W63R probably damaging Het
Adcy5 A G 16: 35,120,018 (GRCm39) M1176V probably null Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
Brox G A 1: 183,065,750 (GRCm39) P206L possibly damaging Het
Ccn3 A G 15: 54,611,171 (GRCm39) D102G possibly damaging Het
Def6 A G 17: 28,444,943 (GRCm39) K447R probably benign Het
Dna2 T C 10: 62,799,773 (GRCm39) S726P probably damaging Het
Ell G A 8: 71,031,879 (GRCm39) V15I probably damaging Het
Entrep2 T A 7: 64,409,075 (GRCm39) T440S probably benign Het
Epha3 T A 16: 63,593,698 (GRCm39) D130V probably benign Het
Gys1 A G 7: 45,089,008 (GRCm39) T200A possibly damaging Het
Habp4 A T 13: 64,309,939 (GRCm39) H47L probably benign Het
Iqcn G T 8: 71,161,511 (GRCm39) V235L possibly damaging Het
Kcnj10 C A 1: 172,196,563 (GRCm39) R26S probably benign Het
Klhl1 T A 14: 96,755,632 (GRCm39) D41V probably benign Het
Lyn A G 4: 3,782,996 (GRCm39) T410A probably damaging Het
Mga A G 2: 119,754,031 (GRCm39) T847A probably damaging Het
Mrgpra3 G T 7: 47,239,290 (GRCm39) T212N probably benign Het
Myh4 T C 11: 67,137,251 (GRCm39) F491L probably benign Het
Neurl4 T A 11: 69,801,562 (GRCm39) I1206N probably damaging Het
Pcdhb15 T A 18: 37,608,621 (GRCm39) W618R possibly damaging Het
Pomc A G 12: 4,010,146 (GRCm39) H129R probably damaging Het
Ppm1l C A 3: 69,460,399 (GRCm39) H325Q probably benign Het
Psme4 A G 11: 30,722,474 (GRCm39) probably benign Het
Robo2 T G 16: 73,745,225 (GRCm39) E850A probably damaging Het
Scrn2 T A 11: 96,921,262 (GRCm39) probably benign Het
Sfpq G A 4: 126,923,675 (GRCm39) R673K probably benign Het
Sh2d3c T C 2: 32,644,581 (GRCm39) *703R probably null Het
Spp1 A G 5: 104,587,167 (GRCm39) M85V probably benign Het
Srebf1 T C 11: 60,097,810 (GRCm39) E98G probably damaging Het
Srrm4 T A 5: 116,582,851 (GRCm39) probably benign Het
Ticam1 A T 17: 56,578,154 (GRCm39) S314T possibly damaging Het
Tie1 T C 4: 118,341,823 (GRCm39) I209V possibly damaging Het
Vapa G A 17: 65,889,586 (GRCm39) R194* probably null Het
Vcan C T 13: 89,838,360 (GRCm39) D2395N probably damaging Het
Whamm A G 7: 81,241,574 (GRCm39) H295R probably benign Het
Zdhhc14 A G 17: 5,698,186 (GRCm39) Y85C probably damaging Het
Zfp35 T A 18: 24,136,583 (GRCm39) F309Y probably damaging Het
Zfp423 C A 8: 88,414,694 (GRCm39) C1187F probably damaging Het
Zfp874b T C 13: 67,622,392 (GRCm39) Y302C probably 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
R2911: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
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'- CCTTCCGCATGAGTCAGTTTTG -3'
(R):5'- TGGCCACCCATAGGAAATATCTG -3'

Sequencing Primer
(F):5'- ATGAGTCAGTTTTGTGTTCCCAAC -3'
(R):5'- CACCCATAGGAAATATCTGTGGCTG -3'
Posted On 2019-05-13