Incidental Mutation 'IGL02813:Tecpr2'
ID 360672
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tecpr2
Ensembl Gene ENSMUSG00000021275
Gene Name tectonin beta-propeller repeat containing 2
Synonyms 4930573I19Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02813
Quality Score
Status
Chromosome 12
Chromosomal Location 110855698-110938828 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 110899626 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 665 (S665C)
Ref Sequence ENSEMBL: ENSMUSP00000126749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165978] [ENSMUST00000169597] [ENSMUST00000223210]
AlphaFold Q3UH45
Predicted Effect probably damaging
Transcript: ENSMUST00000165978
AA Change: S665C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000127949
Gene: ENSMUSG00000021275
AA Change: S665C

DomainStartEndE-ValueType
WD40 21 61 8.52e1 SMART
WD40 65 105 2.54e2 SMART
WD40 113 155 2.49e-1 SMART
TECPR 280 314 9.81e0 SMART
TECPR 316 353 2.55e0 SMART
low complexity region 392 424 N/A INTRINSIC
low complexity region 464 471 N/A INTRINSIC
low complexity region 553 564 N/A INTRINSIC
low complexity region 655 670 N/A INTRINSIC
TECPR 814 850 2.28e2 SMART
TECPR 898 931 1.79e-1 SMART
TECPR 939 974 5.61e-3 SMART
TECPR 985 1023 1.55e-5 SMART
TECPR 1173 1208 1.29e-2 SMART
TECPR 1216 1255 2.82e-8 SMART
TECPR 1266 1308 1.05e-7 SMART
TECPR 1317 1351 1.42e-4 SMART
TECPR 1360 1394 5.03e-5 SMART
low complexity region 1414 1421 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169597
AA Change: S665C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000126749
Gene: ENSMUSG00000021275
AA Change: S665C

DomainStartEndE-ValueType
WD40 21 61 8.52e1 SMART
WD40 65 105 2.54e2 SMART
WD40 113 155 2.49e-1 SMART
TECPR 280 314 9.81e0 SMART
TECPR 316 353 2.55e0 SMART
low complexity region 392 424 N/A INTRINSIC
low complexity region 464 471 N/A INTRINSIC
low complexity region 553 564 N/A INTRINSIC
low complexity region 655 670 N/A INTRINSIC
TECPR 814 850 2.28e2 SMART
TECPR 898 931 1.79e-1 SMART
TECPR 939 974 5.61e-3 SMART
TECPR 985 1023 1.55e-5 SMART
TECPR 1173 1208 1.29e-2 SMART
TECPR 1216 1255 2.82e-8 SMART
TECPR 1266 1308 1.05e-7 SMART
TECPR 1317 1351 1.42e-4 SMART
TECPR 1360 1394 5.03e-5 SMART
low complexity region 1414 1421 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000223210
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223246
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the tectonin beta-propeller repeat-containing (TECPR) family, and contains both TECPR and tryptophan-aspartic acid repeat (WD repeat) domains. This gene has been implicated in autophagy, as reduced expression levels of this gene have been associated with impaired autophagy. Recessive mutations in this gene have been associated with a hereditary form of spastic paraparesis (HSP). HSP is characterized by progressive spasticity and paralysis of the legs. There is also some evidence linking mutations in this gene with birdshot chorioretinopathy (BSCR), which results in inflammation of the choroid and retina. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 C A 11: 7,096,591 (GRCm39) Q660K possibly damaging Het
Arhgap5 A C 12: 52,563,748 (GRCm39) T240P probably benign Het
Arhgef7 C T 8: 11,850,767 (GRCm39) probably benign Het
Cttnbp2 C A 6: 18,367,537 (GRCm39) V1594F possibly damaging Het
Cyp2a22 G T 7: 26,635,859 (GRCm39) Q235K probably benign Het
Dennd11 C T 6: 40,395,473 (GRCm39) V212I probably benign Het
Dynlt5 A G 4: 102,849,769 (GRCm39) N64S probably damaging Het
Ecm1 G A 3: 95,644,098 (GRCm39) P169S probably damaging Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Ern1 T C 11: 106,314,251 (GRCm39) D183G probably damaging Het
Gpat2 T C 2: 127,276,375 (GRCm39) V635A possibly damaging Het
Gria1 A G 11: 57,174,410 (GRCm39) N564S probably damaging Het
Grtp1 A C 8: 13,236,945 (GRCm39) I173S possibly damaging Het
Hsd17b4 A G 18: 50,261,415 (GRCm39) probably benign Het
Lrp1b T C 2: 40,569,229 (GRCm39) probably null Het
Mark4 A T 7: 19,181,181 (GRCm39) probably null Het
Mphosph9 T C 5: 124,453,691 (GRCm39) D207G probably benign Het
Mrgprd A G 7: 144,875,251 (GRCm39) M41V probably benign Het
Myo1g T C 11: 6,468,743 (GRCm39) *66W probably null Het
Neto2 C A 8: 86,417,515 (GRCm39) D30Y probably benign Het
Nlrp6 A T 7: 140,503,333 (GRCm39) I450F possibly damaging Het
Nup155 T A 15: 8,159,605 (GRCm39) probably benign Het
Or4c11c A G 2: 88,661,495 (GRCm39) I11M probably benign Het
Pcdhb10 T G 18: 37,546,815 (GRCm39) S630R possibly damaging Het
Rwdd4a T C 8: 47,990,396 (GRCm39) probably null Het
Slc12a7 T A 13: 73,961,795 (GRCm39) probably benign Het
Slc22a20 C T 19: 6,034,886 (GRCm39) V192I probably benign Het
Slc9a2 T A 1: 40,781,829 (GRCm39) S353T probably damaging Het
Srgap3 A G 6: 112,708,441 (GRCm39) F753L probably damaging Het
Tcea1 C T 1: 4,956,979 (GRCm39) T93I probably benign Het
Tor4a C A 2: 25,084,761 (GRCm39) E381* probably null Het
Vdr A G 15: 97,767,562 (GRCm39) Y143H probably benign Het
Vmn2r91 A C 17: 18,356,348 (GRCm39) T672P possibly damaging Het
Wdr41 A G 13: 95,131,753 (GRCm39) probably null Het
Other mutations in Tecpr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01114:Tecpr2 APN 12 110,934,213 (GRCm39) missense possibly damaging 0.67
IGL01759:Tecpr2 APN 12 110,897,826 (GRCm39) utr 3 prime probably benign
IGL02114:Tecpr2 APN 12 110,935,321 (GRCm39) missense probably damaging 1.00
IGL02943:Tecpr2 APN 12 110,934,183 (GRCm39) missense probably benign
IGL03085:Tecpr2 APN 12 110,921,260 (GRCm39) splice site probably benign
IGL03290:Tecpr2 APN 12 110,934,267 (GRCm39) missense possibly damaging 0.65
R0362:Tecpr2 UTSW 12 110,935,374 (GRCm39) missense probably damaging 0.96
R0486:Tecpr2 UTSW 12 110,862,803 (GRCm39) missense probably benign 0.01
R0662:Tecpr2 UTSW 12 110,862,662 (GRCm39) missense probably benign 0.02
R0787:Tecpr2 UTSW 12 110,912,777 (GRCm39) missense probably benign 0.30
R1147:Tecpr2 UTSW 12 110,907,872 (GRCm39) splice site probably benign
R1454:Tecpr2 UTSW 12 110,935,387 (GRCm39) missense probably benign 0.00
R1513:Tecpr2 UTSW 12 110,921,234 (GRCm39) missense possibly damaging 0.94
R1567:Tecpr2 UTSW 12 110,908,030 (GRCm39) critical splice donor site probably null
R1569:Tecpr2 UTSW 12 110,911,321 (GRCm39) critical splice donor site probably null
R1818:Tecpr2 UTSW 12 110,892,888 (GRCm39) missense probably damaging 1.00
R1856:Tecpr2 UTSW 12 110,899,498 (GRCm39) missense probably benign
R1897:Tecpr2 UTSW 12 110,899,681 (GRCm39) missense probably benign
R1903:Tecpr2 UTSW 12 110,914,346 (GRCm39) missense probably damaging 0.98
R1939:Tecpr2 UTSW 12 110,899,603 (GRCm39) missense probably damaging 0.98
R1982:Tecpr2 UTSW 12 110,921,219 (GRCm39) missense probably benign 0.07
R2073:Tecpr2 UTSW 12 110,934,863 (GRCm39) missense possibly damaging 0.51
R2393:Tecpr2 UTSW 12 110,892,836 (GRCm39) missense probably damaging 0.99
R2443:Tecpr2 UTSW 12 110,862,759 (GRCm39) missense probably damaging 1.00
R2484:Tecpr2 UTSW 12 110,899,752 (GRCm39) missense probably benign
R4564:Tecpr2 UTSW 12 110,921,219 (GRCm39) missense probably benign 0.07
R4723:Tecpr2 UTSW 12 110,899,410 (GRCm39) missense probably benign 0.01
R4835:Tecpr2 UTSW 12 110,921,164 (GRCm39) missense probably benign 0.00
R4847:Tecpr2 UTSW 12 110,906,311 (GRCm39) missense probably damaging 1.00
R4911:Tecpr2 UTSW 12 110,897,921 (GRCm39) missense possibly damaging 0.74
R5179:Tecpr2 UTSW 12 110,911,127 (GRCm39) missense possibly damaging 0.63
R5266:Tecpr2 UTSW 12 110,881,836 (GRCm39) missense probably damaging 1.00
R5386:Tecpr2 UTSW 12 110,881,887 (GRCm39) missense probably damaging 1.00
R5486:Tecpr2 UTSW 12 110,899,449 (GRCm39) missense probably benign 0.03
R5490:Tecpr2 UTSW 12 110,881,118 (GRCm39) missense probably damaging 1.00
R5627:Tecpr2 UTSW 12 110,907,916 (GRCm39) missense probably damaging 0.97
R5836:Tecpr2 UTSW 12 110,897,945 (GRCm39) missense possibly damaging 0.76
R6052:Tecpr2 UTSW 12 110,885,325 (GRCm39) missense possibly damaging 0.89
R6084:Tecpr2 UTSW 12 110,895,543 (GRCm39) missense probably damaging 0.98
R6306:Tecpr2 UTSW 12 110,911,185 (GRCm39) missense probably damaging 1.00
R6563:Tecpr2 UTSW 12 110,895,521 (GRCm39) missense probably benign 0.00
R6936:Tecpr2 UTSW 12 110,911,297 (GRCm39) missense possibly damaging 0.83
R6977:Tecpr2 UTSW 12 110,906,200 (GRCm39) missense probably benign 0.17
R7110:Tecpr2 UTSW 12 110,885,406 (GRCm39) missense probably damaging 1.00
R7132:Tecpr2 UTSW 12 110,881,806 (GRCm39) missense probably damaging 0.97
R7353:Tecpr2 UTSW 12 110,934,278 (GRCm39) missense probably benign 0.06
R7362:Tecpr2 UTSW 12 110,907,910 (GRCm39) missense possibly damaging 0.85
R7366:Tecpr2 UTSW 12 110,881,914 (GRCm39) critical splice donor site probably null
R7404:Tecpr2 UTSW 12 110,898,038 (GRCm39) missense probably benign 0.00
R7478:Tecpr2 UTSW 12 110,934,873 (GRCm39) missense probably benign 0.36
R7774:Tecpr2 UTSW 12 110,899,606 (GRCm39) missense probably benign 0.00
R7922:Tecpr2 UTSW 12 110,899,076 (GRCm39) frame shift probably null
R7997:Tecpr2 UTSW 12 110,900,037 (GRCm39) missense probably benign 0.02
R8037:Tecpr2 UTSW 12 110,902,854 (GRCm39) missense probably benign 0.03
R8038:Tecpr2 UTSW 12 110,902,854 (GRCm39) missense probably benign 0.03
R8393:Tecpr2 UTSW 12 110,911,191 (GRCm39) missense probably damaging 0.99
R8411:Tecpr2 UTSW 12 110,898,154 (GRCm39) missense possibly damaging 0.63
R8726:Tecpr2 UTSW 12 110,904,668 (GRCm39) missense possibly damaging 0.82
R9155:Tecpr2 UTSW 12 110,881,184 (GRCm39) missense probably damaging 1.00
R9259:Tecpr2 UTSW 12 110,897,867 (GRCm39) missense possibly damaging 0.87
R9279:Tecpr2 UTSW 12 110,895,505 (GRCm39) missense possibly damaging 0.56
R9562:Tecpr2 UTSW 12 110,914,141 (GRCm39) missense possibly damaging 0.65
Z1176:Tecpr2 UTSW 12 110,862,744 (GRCm39) missense probably damaging 0.99
Posted On 2015-12-18