Incidental Mutation 'R8327:Reep2'
ID 644180
Institutional Source Beutler Lab
Gene Symbol Reep2
Ensembl Gene ENSMUSG00000038555
Gene Name receptor accessory protein 2
Synonyms
MMRRC Submission 067858-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R8327 (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 34975566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 31 (N31S)
Ref Sequence ENSEMBL: ENSMUSP00000036065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043484] [ENSMUST00000043775] [ENSMUST00000225195]
AlphaFold Q8VCD6
Predicted Effect probably damaging
Transcript: ENSMUST00000043484
AA Change: N31S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000036065
Gene: ENSMUSG00000038555
AA Change: N31S

DomainStartEndE-ValueType
Pfam:TB2_DP1_HVA22 7 95 1.4e-36 PFAM
low complexity region 129 138 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000043775
SMART Domains Protein: ENSMUSP00000037628
Gene: ENSMUSG00000038773

DomainStartEndE-ValueType
low complexity region 20 36 N/A INTRINSIC
Blast:JmjC 149 944 N/A BLAST
Blast:JmjC 946 1064 5e-40 BLAST
Blast:JmjC 1069 1471 N/A BLAST
JmjC 1499 1722 2.43e-65 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000225195
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T A 5: 113,331,685 (GRCm39) D843V possibly damaging Het
6330409D20Rik T A 2: 32,627,623 (GRCm39) Q111L unknown Het
Abcc5 C A 16: 20,241,068 (GRCm39) R39L probably benign Het
Acbd3 C A 1: 180,566,158 (GRCm39) Q284K probably damaging Het
Adgrv1 C T 13: 81,593,462 (GRCm39) R4175H probably damaging Het
Ankrd27 T C 7: 35,300,985 (GRCm39) L95P probably damaging Het
Apc2 T G 10: 80,137,764 (GRCm39) D68E probably damaging Het
Apob A T 12: 8,051,015 (GRCm39) I1093F possibly damaging Het
Arid2 T A 15: 96,260,485 (GRCm39) D411E probably damaging Het
Astn1 T A 1: 158,436,850 (GRCm39) Y811N probably damaging Het
Calhm5 A C 10: 33,972,064 (GRCm39) F124V probably damaging Het
Ccdc187 T C 2: 26,170,630 (GRCm39) H616R probably benign Het
Ccdc198 C T 14: 49,470,356 (GRCm39) G197S possibly damaging Het
Clca4b T C 3: 144,627,762 (GRCm39) Y403C possibly damaging Het
Dagla C T 19: 10,228,451 (GRCm39) V656I probably benign Het
Dguok A C 6: 83,464,061 (GRCm39) W166G probably damaging Het
Dlg5 G A 14: 24,196,388 (GRCm39) A1603V probably damaging Het
Fanca G A 8: 124,039,984 (GRCm39) Q138* probably null Het
Fbxl19 T A 7: 127,347,520 (GRCm39) C25* probably null Het
Gm49383 C A 12: 69,243,643 (GRCm39) E79* probably null Het
Lcor C T 19: 41,570,996 (GRCm39) S63L probably damaging Het
Lrp2 T C 2: 69,322,268 (GRCm39) Y1887C probably damaging Het
Mast3 T C 8: 71,232,062 (GRCm39) D1305G probably damaging Het
Mreg C A 1: 72,203,257 (GRCm39) R107L possibly damaging Het
Nbn T A 4: 15,981,470 (GRCm39) S521T probably benign Het
Nxpe2 C A 9: 48,231,059 (GRCm39) V437L probably benign Het
Or2t49 T C 11: 58,392,942 (GRCm39) M153V probably benign Het
Or51s1 A T 7: 102,558,926 (GRCm39) I40N probably damaging Het
Or8c13 T C 9: 38,091,186 (GRCm39) E311G possibly damaging Het
Pcdhb5 A C 18: 37,453,953 (GRCm39) K111T probably benign Het
Pi4kb A G 3: 94,906,192 (GRCm39) I580V probably benign Het
Plaat3 T C 19: 7,556,514 (GRCm39) L105P probably benign Het
Rbm15b A G 9: 106,761,646 (GRCm39) S841P probably benign Het
Scmh1 C T 4: 120,379,699 (GRCm39) H505Y probably benign Het
Setd1a T A 7: 127,390,669 (GRCm39) L1115H unknown Het
Slc26a3 A G 12: 31,516,430 (GRCm39) D596G possibly damaging Het
Smg5 G T 3: 88,252,714 (GRCm39) A167S probably damaging Het
Supv3l1 T C 10: 62,277,004 (GRCm39) T255A probably damaging Het
Synrg G A 11: 83,899,731 (GRCm39) A568T probably benign Het
Tmem132a G T 19: 10,836,311 (GRCm39) P740T probably benign Het
Tmem181a T C 17: 6,351,680 (GRCm39) L353P probably damaging Het
Tubgcp3 T C 8: 12,704,343 (GRCm39) E242G probably benign Het
Vmn2r77 A T 7: 86,450,680 (GRCm39) T189S probably benign Het
Zfp638 T G 6: 83,905,679 (GRCm39) L44W probably damaging Het
Zfp715 G A 7: 42,947,482 (GRCm39) T826I possibly damaging Het
Zfp865 G A 7: 5,034,058 (GRCm39) S681N probably benign Het
Zscan5b C T 7: 6,236,946 (GRCm39) P232S 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
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
R7029:Reep2 UTSW 18 34,978,342 (GRCm39) missense probably null 0.22
R8944:Reep2 UTSW 18 34,975,929 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- ACACGTGTGTAGCTCCAAAG -3'
(R):5'- TACCCAAGGCCTCACACTTG -3'

Sequencing Primer
(F):5'- ATAGTCCTTGACCAGAGTTCCTCAG -3'
(R):5'- TTGCCAATCATACCAAGCCTG -3'
Posted On 2020-09-02