Incidental Mutation 'R2381:Tpo'
ID 248471
Institutional Source Beutler Lab
Gene Symbol Tpo
Ensembl Gene ENSMUSG00000020673
Gene Name thyroid peroxidase
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.431) question?
Stock # R2381 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 30104658-30182623 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30181826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 23 (I23T)
Ref Sequence ENSEMBL: ENSMUSP00000133853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021005] [ENSMUST00000155263]
AlphaFold P35419
Predicted Effect probably benign
Transcript: ENSMUST00000021005
AA Change: I23T

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000021005
Gene: ENSMUSG00000020673
AA Change: I23T

DomainStartEndE-ValueType
transmembrane domain 5 24 N/A INTRINSIC
Pfam:An_peroxidase 145 697 4.2e-180 PFAM
CCP 730 782 1.26e-7 SMART
EGF_CA 784 827 3.51e-10 SMART
transmembrane domain 837 859 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000155263
AA Change: I23T

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000133853
Gene: ENSMUSG00000020673
AA Change: I23T

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
SCOP:g1cxp.1 136 155 5e-3 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.4%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a membrane-bound glycoprotein. The encoded enzyme plays a central role in thyroid gland function. The enzyme functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mice with homozygous missense mutations in this gene exhibit hypothyroid dwarfism and hearing impairment. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous mice with a missense mutation exhibit hypothyroid dwarfism, including a goiter with colloid deficiency and abnormal follicle epithelium, reduced hematocrit and red blood cells and a lifespan of about 3 months. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cd248 G T 19: 5,119,221 (GRCm39) M356I possibly damaging Het
Cul4a T C 8: 13,186,887 (GRCm39) V541A probably benign Het
Dnajb1 T A 8: 84,336,971 (GRCm39) F147Y possibly damaging Het
Dnhd1 A G 7: 105,342,871 (GRCm39) K1405R probably benign Het
Dpys C A 15: 39,705,450 (GRCm39) R221L probably damaging Het
Elapor2 C T 5: 9,430,342 (GRCm39) P84L probably damaging Het
Gm12253 C T 11: 58,326,284 (GRCm39) R100C probably damaging Het
Inppl1 A T 7: 101,478,439 (GRCm39) S592R probably damaging Het
Lct G A 1: 128,231,858 (GRCm39) Q664* probably null Het
Or7g28 T A 9: 19,271,753 (GRCm39) E299D probably benign Het
Pmepa1 G A 2: 173,069,926 (GRCm39) R210W probably damaging Het
Pnpla7 A C 2: 24,870,770 (GRCm39) K80T probably damaging Het
Ppp4r3c1 T C X: 88,974,116 (GRCm39) I694V probably benign Het
Slc4a1 T C 11: 102,250,128 (GRCm39) D105G probably benign Het
Unc5c A G 3: 141,383,916 (GRCm39) E98G probably damaging Het
Usp13 G A 3: 32,935,658 (GRCm39) probably null Het
Vmn1r175 G A 7: 23,508,093 (GRCm39) T178I probably benign Het
Zgrf1 A T 3: 127,349,863 (GRCm39) M15L probably benign Het
Other mutations in Tpo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:Tpo APN 12 30,134,619 (GRCm39) missense probably damaging 1.00
IGL00694:Tpo APN 12 30,155,993 (GRCm39) missense probably damaging 0.98
IGL01660:Tpo APN 12 30,169,399 (GRCm39) splice site probably benign
IGL01939:Tpo APN 12 30,134,646 (GRCm39) missense possibly damaging 0.83
IGL02624:Tpo APN 12 30,150,413 (GRCm39) missense probably benign 0.40
IGL03268:Tpo APN 12 30,144,964 (GRCm39) missense possibly damaging 0.82
IGL03330:Tpo APN 12 30,153,500 (GRCm39) missense probably damaging 0.97
IGL03138:Tpo UTSW 12 30,124,170 (GRCm39) missense probably benign 0.00
R0025:Tpo UTSW 12 30,150,389 (GRCm39) missense probably benign 0.03
R0025:Tpo UTSW 12 30,150,389 (GRCm39) missense probably benign 0.03
R0076:Tpo UTSW 12 30,154,022 (GRCm39) missense probably damaging 1.00
R0472:Tpo UTSW 12 30,150,485 (GRCm39) missense probably benign 0.03
R1389:Tpo UTSW 12 30,153,109 (GRCm39) missense probably damaging 0.98
R1493:Tpo UTSW 12 30,181,808 (GRCm39) missense possibly damaging 0.78
R1526:Tpo UTSW 12 30,134,694 (GRCm39) missense probably damaging 0.99
R1674:Tpo UTSW 12 30,150,567 (GRCm39) missense probably benign 0.16
R1689:Tpo UTSW 12 30,148,245 (GRCm39) missense probably damaging 1.00
R1986:Tpo UTSW 12 30,169,465 (GRCm39) missense probably damaging 1.00
R2484:Tpo UTSW 12 30,153,968 (GRCm39) missense probably benign 0.12
R2902:Tpo UTSW 12 30,169,448 (GRCm39) missense possibly damaging 0.91
R4105:Tpo UTSW 12 30,142,585 (GRCm39) missense probably damaging 0.98
R4106:Tpo UTSW 12 30,142,585 (GRCm39) missense probably damaging 0.98
R4107:Tpo UTSW 12 30,142,585 (GRCm39) missense probably damaging 0.98
R4108:Tpo UTSW 12 30,142,585 (GRCm39) missense probably damaging 0.98
R4109:Tpo UTSW 12 30,142,585 (GRCm39) missense probably damaging 0.98
R4374:Tpo UTSW 12 30,153,151 (GRCm39) missense possibly damaging 0.50
R4425:Tpo UTSW 12 30,154,015 (GRCm39) missense probably damaging 1.00
R4600:Tpo UTSW 12 30,148,228 (GRCm39) missense probably benign 0.32
R4668:Tpo UTSW 12 30,153,289 (GRCm39) missense probably benign 0.03
R4758:Tpo UTSW 12 30,125,870 (GRCm39) missense probably damaging 1.00
R4838:Tpo UTSW 12 30,142,633 (GRCm39) missense probably damaging 1.00
R4869:Tpo UTSW 12 30,153,364 (GRCm39) missense probably benign 0.00
R5163:Tpo UTSW 12 30,155,979 (GRCm39) missense probably benign 0.00
R5223:Tpo UTSW 12 30,142,589 (GRCm39) missense probably damaging 0.99
R5367:Tpo UTSW 12 30,153,289 (GRCm39) missense probably damaging 1.00
R5658:Tpo UTSW 12 30,105,137 (GRCm39) missense possibly damaging 0.95
R5660:Tpo UTSW 12 30,150,495 (GRCm39) missense possibly damaging 0.92
R5671:Tpo UTSW 12 30,169,490 (GRCm39) missense probably benign 0.00
R6019:Tpo UTSW 12 30,144,980 (GRCm39) missense possibly damaging 0.94
R6074:Tpo UTSW 12 30,128,186 (GRCm39) missense probably benign 0.15
R6181:Tpo UTSW 12 30,181,884 (GRCm39) missense probably benign 0.37
R6321:Tpo UTSW 12 30,153,107 (GRCm39) missense probably damaging 1.00
R6433:Tpo UTSW 12 30,134,753 (GRCm39) missense probably benign
R7206:Tpo UTSW 12 30,153,133 (GRCm39) missense possibly damaging 0.76
R7234:Tpo UTSW 12 30,142,685 (GRCm39) missense probably benign 0.00
R7473:Tpo UTSW 12 30,142,589 (GRCm39) missense probably benign 0.15
R7571:Tpo UTSW 12 30,169,431 (GRCm39) missense probably benign 0.00
R7709:Tpo UTSW 12 30,181,859 (GRCm39) missense possibly damaging 0.62
R7844:Tpo UTSW 12 30,150,404 (GRCm39) missense probably damaging 1.00
R7859:Tpo UTSW 12 30,150,573 (GRCm39) missense probably damaging 1.00
R7883:Tpo UTSW 12 30,153,169 (GRCm39) missense probably damaging 1.00
R8138:Tpo UTSW 12 30,124,103 (GRCm39) missense probably benign 0.00
R8171:Tpo UTSW 12 30,154,045 (GRCm39) missense probably damaging 1.00
R8726:Tpo UTSW 12 30,105,137 (GRCm39) missense possibly damaging 0.95
R8877:Tpo UTSW 12 30,142,738 (GRCm39) missense probably damaging 0.99
R9400:Tpo UTSW 12 30,169,441 (GRCm39) missense possibly damaging 0.94
R9649:Tpo UTSW 12 30,125,875 (GRCm39) missense probably damaging 1.00
X0050:Tpo UTSW 12 30,128,093 (GRCm39) missense probably damaging 1.00
Z1088:Tpo UTSW 12 30,144,781 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCAGGAAGCTTGCTTCAGG -3'
(R):5'- TTGGACTTAGGAGGACCCAC -3'

Sequencing Primer
(F):5'- GGAAAAATCAGTTCTTTTAAAGGAGG -3'
(R):5'- CACCTGAGAGGCCTGGGTATTTATG -3'
Posted On 2014-11-11