Incidental Mutation 'R1565:Tmem27'
ID 175238
Institutional Source Beutler Lab
Gene Symbol Tmem27
Ensembl Gene ENSMUSG00000015401
Gene Name transmembrane protein 27
Synonyms NX17, collectrin, NX=17, 0610008J07Rik
MMRRC Submission 039604-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R1565 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 164088830-164118860 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 164118234 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 184 (D184G)
Ref Sequence ENSEMBL: ENSMUSP00000107899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015545] [ENSMUST00000112280] [ENSMUST00000141818]
AlphaFold Q9ESG4
Predicted Effect possibly damaging
Transcript: ENSMUST00000015545
AA Change: D184G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000015545
Gene: ENSMUSG00000015401
AA Change: D184G

Pfam:Collectrin 24 171 4.6e-70 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000112280
AA Change: D184G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107899
Gene: ENSMUSG00000015401
AA Change: D184G

transmembrane domain 142 164 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141818
Meta Mutation Damage Score 0.0754 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 90.0%
Validation Efficiency 96% (82/85)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type 1 transmembrane protein that is important for trafficking amino acid transporters to the apical brush border of proximal tubules. The encoded protein binds to amino acid transporters and regulates their expression on the plasma membrane. It also plays a role in controlling insulin exocytosis by regulating formation of the SNARE (soluble N-ethylmaleimide-sensitive-factor attachment protein receptor) complex in pancreatic beta cells. The extracellular domain of the encoded protein may be cleaved and shed from the plasma membrane specifically in pancreatic beta cells. [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygous mutation of this gene result in defects in renal amino acid uptake. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik G A 11: 58,880,501 (GRCm38) G270S probably benign Het
Abtb1 T C 6: 88,836,554 (GRCm38) T401A probably benign Het
Adamts14 A T 10: 61,270,897 (GRCm38) M148K probably damaging Het
Adcy5 A G 16: 35,268,957 (GRCm38) E508G probably damaging Het
Ankfy1 T A 11: 72,757,318 (GRCm38) L875H probably damaging Het
Cacng3 A T 7: 122,768,401 (GRCm38) D168V probably damaging Het
Clpb G A 7: 101,785,461 (GRCm38) R488Q probably benign Het
Cpxm2 A T 7: 132,062,145 (GRCm38) Y350N probably damaging Het
D130040H23Rik T A 8: 69,303,160 (GRCm38) *406R probably null Het
Dnah10 T A 5: 124,829,614 (GRCm38) D4236E probably damaging Het
Dpf3 T A 12: 83,370,617 (GRCm38) Y27F probably damaging Het
Esp4 T C 17: 40,602,595 (GRCm38) *118Q probably null Het
Fam222b T C 11: 78,154,662 (GRCm38) S222P possibly damaging Het
Flnc T C 6: 29,455,171 (GRCm38) V1933A probably damaging Het
Gem T C 4: 11,713,709 (GRCm38) F282L possibly damaging Het
Gli2 T C 1: 118,841,930 (GRCm38) T631A possibly damaging Het
Gm13088 G A 4: 143,655,617 (GRCm38) Q170* probably null Het
Gpld1 T A 13: 24,956,068 (GRCm38) V116E probably damaging Het
Gpr176 A G 2: 118,280,214 (GRCm38) M188T probably benign Het
Grk5 T C 19: 61,089,972 (GRCm38) V489A probably damaging Het
H2-Ke6 C T 17: 34,027,495 (GRCm38) V105I possibly damaging Het
Hpdl T C 4: 116,820,883 (GRCm38) N127S probably damaging Het
Id4 G T 13: 48,262,294 (GRCm38) V151L possibly damaging Het
Kcnh8 G T 17: 52,956,881 (GRCm38) G802V probably benign Het
Lamc1 C A 1: 153,242,743 (GRCm38) S894I probably benign Het
Larp1b A G 3: 40,972,384 (GRCm38) N184S probably damaging Het
Lhx1 A T 11: 84,519,821 (GRCm38) S226T probably benign Het
Lmo7 A T 14: 101,887,521 (GRCm38) Q472L probably damaging Het
Mog G C 17: 37,017,582 (GRCm38) N152K possibly damaging Het
Mttp A G 3: 138,116,405 (GRCm38) probably null Het
Mycbp2 A G 14: 103,252,509 (GRCm38) V953A possibly damaging Het
Myo3a A T 2: 22,340,280 (GRCm38) Y509F probably damaging Het
Myo9b A G 8: 71,315,192 (GRCm38) N303S possibly damaging Het
Nek3 T C 8: 22,132,201 (GRCm38) probably null Het
Nlrc4 A T 17: 74,441,931 (GRCm38) D771E probably benign Het
Nup160 A T 2: 90,722,061 (GRCm38) N1127I possibly damaging Het
Oas1h A T 5: 120,862,600 (GRCm38) N91I probably damaging Het
Olfr1225 A T 2: 89,170,627 (GRCm38) V195D probably benign Het
Olfr1226 G T 2: 89,193,883 (GRCm38) S50R probably damaging Het
Olfr1342 T A 4: 118,690,192 (GRCm38) N87Y probably damaging Het
Parp4 T C 14: 56,589,872 (GRCm38) probably benign Het
Pi4ka G A 16: 17,281,900 (GRCm38) C96Y probably null Het
Pira2 A T 7: 3,844,549 (GRCm38) F47Y probably damaging Het
Pkhd1 C A 1: 20,347,457 (GRCm38) G2490V probably damaging Het
Plekhg1 C T 10: 3,940,526 (GRCm38) T394I probably damaging Het
Psmd1 T C 1: 86,091,997 (GRCm38) probably benign Het
Rab3ip A T 10: 116,939,223 (GRCm38) C77S probably benign Het
Reln A T 5: 21,925,213 (GRCm38) M2700K probably benign Het
Rfx1 A G 8: 84,073,946 (GRCm38) T59A probably benign Het
Ric8b G T 10: 84,980,099 (GRCm38) V405L probably benign Het
Rufy3 G T 5: 88,640,632 (GRCm38) A479S probably damaging Het
Sardh A T 2: 27,242,719 (GRCm38) Y166N probably damaging Het
Slamf6 T G 1: 171,934,408 (GRCm38) V132G possibly damaging Het
Slc12a3 T G 8: 94,345,877 (GRCm38) H674Q possibly damaging Het
Sned1 G A 1: 93,281,654 (GRCm38) V830M possibly damaging Het
Srsf9 A G 5: 115,327,370 (GRCm38) N21S possibly damaging Het
Stkld1 A T 2: 26,950,090 (GRCm38) T391S probably benign Het
Sumf2 C A 5: 129,859,914 (GRCm38) N230K probably damaging Het
Tbc1d22a T C 15: 86,235,569 (GRCm38) V22A possibly damaging Het
Thsd7b T A 1: 129,596,041 (GRCm38) S194T possibly damaging Het
Tnn T A 1: 160,097,265 (GRCm38) Y1173F probably damaging Het
Top2a A G 11: 99,001,054 (GRCm38) F1122L probably damaging Het
Trappc9 G A 15: 73,025,967 (GRCm38) R377W probably damaging Het
Trim39 G A 17: 36,268,854 (GRCm38) R70W probably damaging Het
Ttn G A 2: 76,794,261 (GRCm38) T15289I probably damaging Het
Ugt2b38 A T 5: 87,411,914 (GRCm38) V373E probably damaging Het
Usp54 A G 14: 20,607,159 (GRCm38) S24P probably damaging Het
Vmn2r27 C T 6: 124,231,634 (GRCm38) G51S probably benign Het
Xylt2 C T 11: 94,667,594 (GRCm38) A579T probably benign Het
Zbtb21 A G 16: 97,952,427 (GRCm38) S247P probably benign Het
Zc3h7b C T 15: 81,777,088 (GRCm38) P376L probably benign Het
Zfp251 T A 15: 76,853,038 (GRCm38) R613S probably damaging Het
Zfp251 C T 15: 76,853,039 (GRCm38) R613K possibly damaging Het
Zfp91 T C 19: 12,779,075 (GRCm38) D135G probably benign Het
Other mutations in Tmem27
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1823:Tmem27 UTSW X 164,118,234 (GRCm38) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- cggcacggctGAGGTAACTTTT -3'

Sequencing Primer
Posted On 2014-04-24