Incidental Mutation 'R7079:Reep5'
ID549444
Institutional Source Beutler Lab
Gene Symbol Reep5
Ensembl Gene ENSMUSG00000005873
Gene Namereceptor accessory protein 5
SynonymsTB2/DP1, Dp1, DP1/TB2
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7079 (G1)
Quality Score159.009
Status Validated
Chromosome18
Chromosomal Location34344889-34373415 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 34347123 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 189 (T189I)
Ref Sequence ENSEMBL: ENSMUSP00000006027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006027]
Predicted Effect probably damaging
Transcript: ENSMUST00000006027
AA Change: T189I

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000006027
Gene: ENSMUSG00000005873
AA Change: T189I

DomainStartEndE-ValueType
Pfam:TB2_DP1_HVA22 55 144 1.6e-35 PFAM
low complexity region 152 169 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (50/51)
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap insertion exhibit no detectable mutant phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,254,204 L405S possibly damaging Het
2310009B15Rik T A 1: 138,852,127 Q129L possibly damaging Het
4921509C19Rik T G 2: 151,473,278 D160A probably damaging Het
9330182L06Rik A G 5: 9,399,253 Y127C probably damaging Het
Aspn A G 13: 49,566,555 Y349C probably damaging Het
Atp2b1 A G 10: 99,018,733 T1063A probably benign Het
BC035947 T C 1: 78,497,915 E660G probably damaging Het
Cadps2 A G 6: 23,323,409 L970P probably damaging Het
Caskin1 T C 17: 24,498,884 I215T probably benign Het
Cort C G 4: 149,127,391 G85R probably benign Het
Cyp1a2 T C 9: 57,681,878 I218V probably benign Het
Egfem1 T A 3: 29,153,582 H140Q probably benign Het
Fam205a1 T C 4: 42,851,718 E146G probably benign Het
Fbln5 G A 12: 101,757,408 P345S probably damaging Het
Fbxw21 A G 9: 109,145,510 I314T probably benign Het
Gfpt2 G A 11: 49,837,751 V679I possibly damaging Het
Gm10837 C G 14: 122,490,730 A6G unknown Het
Grm1 T C 10: 11,079,958 D194G probably damaging Het
Hectd1 G A 12: 51,787,855 T875M possibly damaging Het
Hey2 T A 10: 30,834,386 I124F probably benign Het
Hhat T C 1: 192,553,046 H434R possibly damaging Het
Itpripl2 A G 7: 118,490,869 F156L possibly damaging Het
Kctd11 A G 11: 69,880,021 Y64H probably damaging Het
Lmln T C 16: 33,067,291 L97P probably benign Het
Lrrc30 T C 17: 67,632,021 D188G possibly damaging Het
Mmd T A 11: 90,267,499 probably null Het
Nav3 G A 10: 109,767,292 S1132L probably benign Het
Olfr1188 C A 2: 88,559,509 N2K probably damaging Het
Olfr365 C A 2: 37,202,173 H311N probably benign Het
Olfr598 C T 7: 103,329,184 R233C probably benign Het
Pcdh15 A G 10: 74,317,125 T421A probably benign Het
Pfkm G A 15: 98,095,082 R7H probably benign Het
Psme2b A G 11: 48,945,616 F168S probably damaging Het
Ptk2 G A 15: 73,221,809 P854S possibly damaging Het
Ptpn13 T C 5: 103,501,886 V385A probably benign Het
Sacm1l T A 9: 123,569,997 Y272N probably damaging Het
Slc26a6 T A 9: 108,857,948 H348Q probably damaging Het
Son CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG 16: 91,656,841 probably benign Het
Stkld1 A G 2: 26,949,347 I342V probably benign Het
Trim23 A T 13: 104,187,293 probably null Het
Trmt13 T C 3: 116,582,831 T304A probably benign Het
Tyw3 G C 3: 154,593,789 S94R probably benign Het
Ubqln3 A T 7: 104,141,371 I504K probably benign Het
Uhrf2 T G 19: 30,082,790 N519K probably null Het
Wdr93 T C 7: 79,749,292 M58T probably damaging Het
Wwc2 G A 8: 47,847,545 T961M unknown Het
Zfp35 C T 18: 24,003,300 H234Y possibly damaging Het
Zscan21 C T 5: 138,126,466 P215S probably benign Het
Other mutations in Reep5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00688:Reep5 APN 18 34349693 missense probably benign
IGL02070:Reep5 APN 18 34372473 nonsense probably null
IGL02221:Reep5 APN 18 34349797 missense probably damaging 0.99
IGL02820:Reep5 APN 18 34373259 missense probably benign 0.00
R1646:Reep5 UTSW 18 34349659 missense probably benign 0.02
R3755:Reep5 UTSW 18 34372474 missense probably damaging 1.00
R4978:Reep5 UTSW 18 34373296 missense probably damaging 1.00
R5209:Reep5 UTSW 18 34357240 splice site probably null
R6086:Reep5 UTSW 18 34357131 missense probably damaging 1.00
R6141:Reep5 UTSW 18 34372458 nonsense probably null
R7635:Reep5 UTSW 18 34349800 missense possibly damaging 0.83
X0058:Reep5 UTSW 18 34372403 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GAGGTACTGCCCACTCTGTTAG -3'
(R):5'- TTCCTGGAAGCCTTCTTAGC -3'

Sequencing Primer
(F):5'- GCCCACTCTGTTAGGTTTAAATG -3'
(R):5'- GGAAGCCTTCTTAGCCTTGAC -3'
Posted On2019-05-15