Incidental Mutation 'IGL03344:Tmem202'
ID 417368
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem202
Ensembl Gene ENSMUSG00000049526
Gene Name transmembrane protein 202
Synonyms 4930425N13Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # IGL03344
Quality Score
Status
Chromosome 9
Chromosomal Location 59425968-59447130 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59426351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 272 (T272A)
Ref Sequence ENSEMBL: ENSMUSP00000053782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055345]
AlphaFold Q80W35
Predicted Effect possibly damaging
Transcript: ENSMUST00000055345
AA Change: T272A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000053782
Gene: ENSMUSG00000049526
AA Change: T272A

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 50 206 2.2e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214580
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik A T 8: 79,975,005 (GRCm39) I26N probably damaging Het
Atxn7l1 A G 12: 33,376,065 (GRCm39) N47D probably damaging Het
Cer1 A T 4: 82,803,062 (GRCm39) W87R probably damaging Het
Chrna2 A G 14: 66,388,415 (GRCm39) K477E probably damaging Het
Chtf8 G A 8: 107,612,904 (GRCm39) P12S probably damaging Het
Cplane1 C A 15: 8,216,942 (GRCm39) P720Q possibly damaging Het
Deaf1 A T 7: 140,877,461 (GRCm39) H555Q probably benign Het
Dop1a T G 9: 86,418,197 (GRCm39) I1975M probably damaging Het
Ecpas A C 4: 58,828,538 (GRCm39) V965G probably damaging Het
Fsd2 C A 7: 81,209,657 (GRCm39) V62L probably benign Het
Fxyd6 T G 9: 45,303,548 (GRCm39) L81R probably benign Het
Htt T A 5: 35,064,810 (GRCm39) S3008T probably benign Het
Htt T A 5: 35,037,172 (GRCm39) S2086T probably benign Het
Mybbp1a G T 11: 72,336,028 (GRCm39) R447L probably damaging Het
Nup210 A G 6: 90,998,411 (GRCm39) V792A possibly damaging Het
Odad2 C A 18: 7,129,434 (GRCm39) G915* probably null Het
Odr4 T C 1: 150,239,295 (GRCm39) E386G probably damaging Het
Or1e32 T A 11: 73,705,003 (GRCm39) I302L probably benign Het
Or1j14 T C 2: 36,418,140 (GRCm39) S239P probably damaging Het
Prokr1 T C 6: 87,565,482 (GRCm39) D121G possibly damaging Het
Puf60 A G 15: 75,942,229 (GRCm39) V548A possibly damaging Het
Serpina3c T C 12: 104,113,523 (GRCm39) I408V probably benign Het
Ska2 A G 11: 87,000,139 (GRCm39) probably benign Het
Slc4a9 T A 18: 36,668,654 (GRCm39) Y745N probably damaging Het
Spart T C 3: 55,029,106 (GRCm39) M299T probably benign Het
Speer4f1 A G 5: 17,685,332 (GRCm39) E209G possibly damaging Het
Vegfc T A 8: 54,610,186 (GRCm39) I114N possibly damaging Het
Vmn1r61 T A 7: 5,613,493 (GRCm39) T274S possibly damaging Het
Zfpm2 A G 15: 40,966,170 (GRCm39) N753S probably benign Het
Zmym6 A G 4: 127,014,314 (GRCm39) T624A probably damaging Het
Other mutations in Tmem202
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0011:Tmem202 UTSW 9 59,432,084 (GRCm39) missense probably benign 0.00
R0011:Tmem202 UTSW 9 59,432,084 (GRCm39) missense probably benign 0.00
R0711:Tmem202 UTSW 9 59,432,655 (GRCm39) missense probably damaging 0.99
R1690:Tmem202 UTSW 9 59,426,391 (GRCm39) missense possibly damaging 0.93
R2127:Tmem202 UTSW 9 59,427,483 (GRCm39) missense probably benign 0.41
R4747:Tmem202 UTSW 9 59,426,477 (GRCm39) missense possibly damaging 0.47
R4998:Tmem202 UTSW 9 59,432,129 (GRCm39) missense probably damaging 0.99
R6916:Tmem202 UTSW 9 59,432,757 (GRCm39) start gained probably benign
R6929:Tmem202 UTSW 9 59,426,504 (GRCm39) missense probably benign 0.20
R8326:Tmem202 UTSW 9 59,426,500 (GRCm39) missense probably benign
R8537:Tmem202 UTSW 9 59,426,929 (GRCm39) missense probably benign 0.00
R9417:Tmem202 UTSW 9 59,431,999 (GRCm39) critical splice donor site probably null
Posted On 2016-08-02