Incidental Mutation 'R2292:Tmem192'
ID 245042
Institutional Source Beutler Lab
Gene Symbol Tmem192
Ensembl Gene ENSMUSG00000025521
Gene Name transmembrane protein 192
Synonyms 3110005G23Rik
MMRRC Submission 040291-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R2292 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 65399837-65421685 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65411998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 59 (V59A)
Ref Sequence ENSEMBL: ENSMUSP00000147788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026595] [ENSMUST00000079896] [ENSMUST00000209852] [ENSMUST00000209923] [ENSMUST00000211405]
AlphaFold Q9CXT7
Predicted Effect probably damaging
Transcript: ENSMUST00000026595
AA Change: V59A

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000026595
Gene: ENSMUSG00000025521
AA Change: V59A

DomainStartEndE-ValueType
Pfam:TMEM192 26 259 3.6e-85 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000079896
AA Change: V59A

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000078819
Gene: ENSMUSG00000025521
AA Change: V59A

DomainStartEndE-ValueType
Pfam:TMEM192 25 148 7e-35 PFAM
Pfam:TMEM192 146 215 1.4e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000209852
AA Change: V59A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000209923
Predicted Effect probably benign
Transcript: ENSMUST00000211405
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.8%
Validation Efficiency 100% (44/44)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-put allele are viable and overtly normal with no signs of pathology or lysosomal dysfunction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,562,483 (GRCm39) I370T probably benign Het
A2m A G 6: 121,650,518 (GRCm39) T1209A possibly damaging Het
Als2 T C 1: 59,226,544 (GRCm39) Q920R probably damaging Het
Arhgap20 T A 9: 51,760,743 (GRCm39) Y829N possibly damaging Het
Arhgap35 A T 7: 16,297,476 (GRCm39) F530I probably damaging Het
Arid4a G T 12: 71,108,315 (GRCm39) G40V probably damaging Het
Ascc2 T C 11: 4,629,352 (GRCm39) probably benign Het
Cacna1b C T 2: 24,496,632 (GRCm39) V2312I probably benign Het
Dctn6 T C 8: 34,559,679 (GRCm39) T159A probably benign Het
Ddx55 G T 5: 124,706,140 (GRCm39) A522S probably benign Het
Dnah6 G A 6: 72,998,092 (GRCm39) T4110I probably damaging Het
Dvl1 G A 4: 155,932,273 (GRCm39) V28I possibly damaging Het
Dym A G 18: 75,332,283 (GRCm39) T504A possibly damaging Het
E130308A19Rik T C 4: 59,690,579 (GRCm39) Y138H probably damaging Het
Fgd4 A T 16: 16,253,864 (GRCm39) C568S possibly damaging Het
Fkbp4 A C 6: 128,413,625 (GRCm39) V6G probably damaging Het
Flg2 A T 3: 93,127,984 (GRCm39) S2299C unknown Het
Gdf2 A T 14: 33,667,145 (GRCm39) N289I possibly damaging Het
Gpr182 A G 10: 127,586,051 (GRCm39) I300T possibly damaging Het
Iqcg A G 16: 32,870,253 (GRCm39) V80A probably benign Het
Letm1 A AG 5: 33,926,859 (GRCm39) probably null Het
Lyst T G 13: 13,915,080 (GRCm39) F3258C probably damaging Het
Map3k12 T C 15: 102,408,574 (GRCm39) E870G probably damaging Het
Mphosph10 G A 7: 64,035,519 (GRCm39) P384L probably damaging Het
Ncoa4 T G 14: 31,895,413 (GRCm39) L179R probably damaging Het
Nlrp1c-ps A G 11: 71,137,188 (GRCm39) noncoding transcript Het
Nwd2 A T 5: 63,962,917 (GRCm39) M834L probably benign Het
Or10a49 A T 7: 108,468,223 (GRCm39) M46K probably benign Het
Or2w6 A G 13: 21,843,001 (GRCm39) M164T probably damaging Het
Pccb T C 9: 100,876,685 (GRCm39) E266G probably benign Het
Pcdhb2 T A 18: 37,430,297 (GRCm39) probably null Het
Pramel25 T C 4: 143,520,446 (GRCm39) I66T probably benign Het
Prdm13 A C 4: 21,683,914 (GRCm39) I119S unknown Het
Tchh A G 3: 93,349,689 (GRCm39) Y18C probably damaging Het
Trak2 A T 1: 58,974,916 (GRCm39) F92Y probably damaging Het
Trappc11 C T 8: 47,958,771 (GRCm39) G40D probably damaging Het
Ttc23 A T 7: 67,319,535 (GRCm39) I132F probably benign Het
Ttc9b A G 7: 27,355,405 (GRCm39) D225G probably benign Het
Ubr3 G T 2: 69,727,604 (GRCm39) probably benign Het
Vmn2r75 A C 7: 85,798,144 (GRCm39) C556W probably damaging Het
Zbtb41 T C 1: 139,368,097 (GRCm39) V595A probably damaging Het
Other mutations in Tmem192
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02996:Tmem192 APN 8 65,421,442 (GRCm39) splice site probably null
R0541:Tmem192 UTSW 8 65,416,912 (GRCm39) missense probably damaging 1.00
R1837:Tmem192 UTSW 8 65,416,992 (GRCm39) splice site probably benign
R1920:Tmem192 UTSW 8 65,418,235 (GRCm39) missense probably damaging 1.00
R5032:Tmem192 UTSW 8 65,412,163 (GRCm39) missense possibly damaging 0.77
R5505:Tmem192 UTSW 8 65,416,898 (GRCm39) missense possibly damaging 0.58
R5591:Tmem192 UTSW 8 65,418,254 (GRCm39) missense possibly damaging 0.60
R6767:Tmem192 UTSW 8 65,416,888 (GRCm39) missense probably damaging 1.00
R8077:Tmem192 UTSW 8 65,418,196 (GRCm39) missense probably benign 0.01
R8261:Tmem192 UTSW 8 65,416,972 (GRCm39) missense probably benign
X0052:Tmem192 UTSW 8 65,412,070 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGTGAGTGTGCATGGTCATACC -3'
(R):5'- CCTGTGGTGATACTGGACGTAG -3'

Sequencing Primer
(F):5'- CATGGTCATACCTGTATGCATGGAAG -3'
(R):5'- TGATACTGGACGTAGCGTTC -3'
Posted On 2014-10-30