Incidental Mutation 'R6709:Reep2'
ID 529085
Institutional Source Beutler Lab
Gene Symbol Reep2
Ensembl Gene ENSMUSG00000038555
Gene Name receptor accessory protein 2
Synonyms
MMRRC Submission 044827-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # R6709 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 34973642-34980516 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34979263 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 196 (L196P)
Ref Sequence ENSEMBL: ENSMUSP00000036065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043484]
AlphaFold Q8VCD6
Predicted Effect probably benign
Transcript: ENSMUST00000043484
AA Change: L196P

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000036065
Gene: ENSMUSG00000038555
AA Change: L196P

DomainStartEndE-ValueType
Pfam:TB2_DP1_HVA22 7 95 1.4e-36 PFAM
low complexity region 129 138 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 98% (58/59)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A G 5: 137,552,779 (GRCm39) D36G possibly damaging Het
Actn1 T A 12: 80,240,418 (GRCm39) D223V probably damaging Het
Adgre1 A T 17: 57,713,917 (GRCm39) N201Y probably benign Het
Agbl4 T A 4: 111,423,979 (GRCm39) probably benign Het
Atg4d T C 9: 21,179,944 (GRCm39) Y272H probably damaging Het
Ccdc39 T C 3: 33,884,242 (GRCm39) T367A possibly damaging Het
Ceacam2 T C 7: 25,229,262 (GRCm39) T293A possibly damaging Het
Col19a1 C T 1: 24,321,577 (GRCm39) G977E probably damaging Het
Csnka2ip A T 16: 64,298,932 (GRCm39) H33Q possibly damaging Het
Cyp3a44 A T 5: 145,714,902 (GRCm39) probably null Het
Dcpp3 AGGCCATGCTGGCC AGGCC 17: 24,136,572 (GRCm39) probably benign Het
Dnah12 A G 14: 26,594,706 (GRCm39) D3492G probably damaging Het
Eepd1 A T 9: 25,394,164 (GRCm39) T143S probably benign Het
Eml2 A G 7: 18,940,136 (GRCm39) *650W probably null Het
Etv1 C T 12: 38,833,796 (GRCm39) T19I possibly damaging Het
Fam133b T C 5: 3,619,059 (GRCm39) probably benign Het
Fgd4 T C 16: 16,302,345 (GRCm39) H70R probably benign Het
Galnt11 C T 5: 25,453,851 (GRCm39) R26C probably damaging Het
Gm136 T A 4: 34,755,884 (GRCm39) Y43F probably damaging Het
Gm17409 A T 2: 58,361,088 (GRCm39) probably null Het
Gm5591 A G 7: 38,221,499 (GRCm39) I190T probably benign Het
H1f9 T A 11: 94,858,772 (GRCm39) S22R possibly damaging Het
Htra1 C T 7: 130,537,948 (GRCm39) probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ints8 A T 4: 11,221,117 (GRCm39) Y753N possibly damaging Het
Itprid2 A G 2: 79,475,276 (GRCm39) T412A probably benign Het
L3mbtl3 G A 10: 26,158,695 (GRCm39) T651I unknown Het
Ltb4r2 A C 14: 55,999,990 (GRCm39) T204P possibly damaging Het
Ltbp3 G A 19: 5,797,885 (GRCm39) probably null Het
Mlxip A T 5: 123,585,339 (GRCm39) I616F possibly damaging Het
Mpz A T 1: 170,978,301 (GRCm39) probably benign Het
Myh11 A G 16: 14,041,358 (GRCm39) probably null Het
Myo7a A G 7: 97,703,906 (GRCm39) L1949P probably damaging Het
Olfm2 A G 9: 20,584,009 (GRCm39) Y116H probably damaging Het
Or2t47 T C 11: 58,442,862 (GRCm39) M68V probably benign Het
Or6s1 A T 14: 51,308,286 (GRCm39) L188H probably damaging Het
Pde4d T G 13: 110,084,813 (GRCm39) L470R probably damaging Het
Plxna2 T A 1: 194,472,074 (GRCm39) N1013K probably benign Het
Ptpn13 A C 5: 103,734,622 (GRCm39) Q2118P probably benign Het
Pwwp2a C G 11: 43,595,554 (GRCm39) L240V probably damaging Het
Shank1 A T 7: 44,003,600 (GRCm39) N1765I probably benign Het
Slc25a13 A G 6: 6,073,440 (GRCm39) S473P possibly damaging Het
Slc33a1 C A 3: 63,852,122 (GRCm39) M450I possibly damaging Het
Slc45a2 A G 15: 11,001,216 (GRCm39) Y105C possibly damaging Het
Slc4a11 A T 2: 130,526,616 (GRCm39) L812Q probably damaging Het
Sox6 T C 7: 115,301,024 (GRCm39) probably null Het
Sv2b A T 7: 74,773,887 (GRCm39) M528K probably benign Het
Syngr4 A G 7: 45,538,122 (GRCm39) V82A probably benign Het
Tmem185b G A 1: 119,454,604 (GRCm39) V122I probably benign Het
Trdn A G 10: 33,340,587 (GRCm39) D607G probably benign Het
Trim10 T A 17: 37,183,262 (GRCm39) I186N probably damaging Het
Trp53i11 A T 2: 93,030,163 (GRCm39) M157L probably benign Het
Ubr3 C A 2: 69,843,436 (GRCm39) H1559N probably damaging Het
Usp25 A C 16: 76,880,820 (GRCm39) E727A probably benign Het
Vmn2r42 T A 7: 8,195,618 (GRCm39) R509S probably benign Het
Vmn2r69 T C 7: 85,061,069 (GRCm39) N172D probably benign Het
Zfp14 T C 7: 29,737,557 (GRCm39) Y476C 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
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'- AGATGAGGATGCGTTACCG -3'
(R):5'- GTCTTCAGTGTCTTGGAAGCC -3'

Sequencing Primer
(F):5'- CTGCAGGGGCCAGATGG -3'
(R):5'- CCGGCGGCTATGTAGAGAGTTATG -3'
Posted On 2018-07-24