Incidental Mutation 'R4475:Tmem52b'
ID 384560
Institutional Source Beutler Lab
Gene Symbol Tmem52b
Ensembl Gene ENSMUSG00000030160
Gene Name transmembrane protein 52B
Synonyms D630042F21Rik
MMRRC Submission 041732-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R4475 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 129489518-129496190 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 129491219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 37 (H37Y)
Ref Sequence ENSEMBL: ENSMUSP00000032263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032263] [ENSMUST00000204741]
AlphaFold Q0VBF2
Predicted Effect probably benign
Transcript: ENSMUST00000032263
AA Change: H37Y

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000032263
Gene: ENSMUSG00000030160
AA Change: H37Y

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:TMEM52 30 166 1.9e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203160
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204692
Predicted Effect probably benign
Transcript: ENSMUST00000204741
Meta Mutation Damage Score 0.0819 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 97% (38/39)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630010A05Rik T A 16: 14,407,227 (GRCm39) I52N possibly damaging Het
Adgra3 A T 5: 50,159,240 (GRCm39) Y337N probably damaging Het
Aga T C 8: 53,964,871 (GRCm39) L11P probably damaging Het
Akap6 T C 12: 53,188,426 (GRCm39) F1947L probably benign Het
Atp6v1c1 T C 15: 38,677,817 (GRCm39) I114T probably benign Het
Bltp1 A G 3: 37,094,544 (GRCm39) T904A probably damaging Het
Dbh T A 2: 27,070,984 (GRCm39) probably null Het
Dgkh T C 14: 78,827,318 (GRCm39) D858G possibly damaging Het
Dlx5 T C 6: 6,881,663 (GRCm39) Y75C probably damaging Het
Dnah8 T C 17: 30,875,959 (GRCm39) F529L probably benign Het
Epg5 A C 18: 77,991,723 (GRCm39) D140A probably benign Het
Esr2 C T 12: 76,180,716 (GRCm39) D402N probably benign Het
Hells A G 19: 38,933,973 (GRCm39) T265A probably damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hspa8 T A 9: 40,715,442 (GRCm39) probably benign Het
Ighm A G 12: 113,384,513 (GRCm39) probably benign Het
Nedd4 C T 9: 72,578,521 (GRCm39) R78* probably null Het
Nrxn1 G T 17: 91,009,410 (GRCm39) N388K probably damaging Het
Oprk1 T A 1: 5,672,824 (GRCm39) Y320* probably null Het
Or10j2 T C 1: 173,098,480 (GRCm39) V246A probably damaging Het
Or9s27 T C 1: 92,516,301 (GRCm39) V83A probably benign Het
Parn A G 16: 13,482,549 (GRCm39) S100P probably benign Het
Piezo2 A G 18: 63,235,170 (GRCm39) L809P probably damaging Het
Plek C T 11: 16,935,528 (GRCm39) probably null Het
Prg4 T C 1: 150,330,610 (GRCm39) probably benign Het
Rrs1 T C 1: 9,615,810 (GRCm39) L21P probably damaging Het
Siah1b G A X: 162,854,688 (GRCm39) P131S probably damaging Het
Sim2 T C 16: 93,926,650 (GRCm39) S625P probably benign Het
Smpd5 T C 15: 76,178,926 (GRCm39) L98P probably damaging Het
Srpra A G 9: 35,124,155 (GRCm39) K34E possibly damaging Het
Tbc1d2 A G 4: 46,609,080 (GRCm39) V719A possibly damaging Het
Tnip1 A G 11: 54,830,422 (GRCm39) probably null Het
Trim3 A G 7: 105,267,009 (GRCm39) Y457H probably damaging Het
Usp34 T C 11: 23,407,975 (GRCm39) I2600T possibly damaging Het
Vmn2r129 T G 4: 156,691,085 (GRCm39) noncoding transcript Het
Zfp365 C A 10: 67,724,750 (GRCm39) K379N possibly damaging Het
Other mutations in Tmem52b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Tmem52b APN 6 129,493,678 (GRCm39) missense probably damaging 1.00
IGL00792:Tmem52b APN 6 129,493,704 (GRCm39) missense probably damaging 1.00
R5249:Tmem52b UTSW 6 129,491,221 (GRCm39) critical splice donor site probably null
R6815:Tmem52b UTSW 6 129,493,705 (GRCm39) critical splice donor site probably null
R7238:Tmem52b UTSW 6 129,493,651 (GRCm39) missense probably damaging 1.00
R7577:Tmem52b UTSW 6 129,493,040 (GRCm39) nonsense probably null
R7791:Tmem52b UTSW 6 129,489,966 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- AGACCAATCCTATGATCCTGTCC -3'
(R):5'- TGCTGTGTTGACGAGAAGAC -3'

Sequencing Primer
(F):5'- GTCCTCATCTTTACAAATAGGTCTG -3'
(R):5'- CTGTGTTGACGAGAAGACTGATTTG -3'
Posted On 2016-04-28