Incidental Mutation 'R5490:Tecpr2'
ID 432054
Institutional Source Beutler Lab
Gene Symbol Tecpr2
Ensembl Gene ENSMUSG00000021275
Gene Name tectonin beta-propeller repeat containing 2
Synonyms 4930573I19Rik
MMRRC Submission 043051-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5490 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 110855698-110938828 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110881118 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 85 (L85P)
Ref Sequence ENSEMBL: ENSMUSP00000152826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165978] [ENSMUST00000169597] [ENSMUST00000223210]
AlphaFold Q3UH45
Predicted Effect probably damaging
Transcript: ENSMUST00000165978
AA Change: L85P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127949
Gene: ENSMUSG00000021275
AA Change: L85P

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: L85P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126749
Gene: ENSMUSG00000021275
AA Change: L85P

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 noncoding transcript
Transcript: ENSMUST00000221605
Predicted Effect probably damaging
Transcript: ENSMUST00000223210
AA Change: L85P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223246
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.8%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf C T 11: 84,401,099 (GRCm39) G174D probably damaging Het
Abcc1 G T 16: 14,228,781 (GRCm39) G343C probably damaging Het
Asic2 T C 11: 80,780,646 (GRCm39) N370S probably benign Het
Btnl9 T C 11: 49,060,395 (GRCm39) E451G probably damaging Het
Cblb A G 16: 51,994,733 (GRCm39) H658R possibly damaging Het
Cdca2 T C 14: 67,917,733 (GRCm39) E555G possibly damaging Het
Chfr A G 5: 110,300,995 (GRCm39) S299G possibly damaging Het
Eea1 A G 10: 95,861,916 (GRCm39) E741G probably benign Het
Gapvd1 T C 2: 34,583,445 (GRCm39) D1057G probably benign Het
Glyat C T 19: 12,627,645 (GRCm39) T80M probably benign Het
Gpr87 T C 3: 59,086,747 (GRCm39) S253G probably damaging Het
Hapstr1 T A 16: 8,673,721 (GRCm39) V216E probably damaging Het
Hmgxb3 A G 18: 61,296,049 (GRCm39) S320P probably damaging Het
Kcnq5 C T 1: 21,549,692 (GRCm39) G345D probably damaging Het
Kif5c T C 2: 49,648,870 (GRCm39) V938A probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Madd G T 2: 91,000,980 (GRCm39) T467K possibly damaging Het
Mamdc4 T C 2: 25,455,890 (GRCm39) D706G probably damaging Het
Map2 A G 1: 66,452,292 (GRCm39) H476R probably damaging Het
Mgat4f A G 1: 134,317,666 (GRCm39) D146G probably damaging Het
Mpeg1 T C 19: 12,439,057 (GRCm39) S172P probably damaging Het
Nkx2-3 A T 19: 43,601,093 (GRCm39) T52S probably benign Het
Nup210 C T 6: 91,062,970 (GRCm39) V230I probably damaging Het
Or1j19 T A 2: 36,677,193 (GRCm39) Y219N probably damaging Het
Or51f2 T C 7: 102,527,100 (GRCm39) S258P probably damaging Het
Or5g9 G T 2: 85,552,666 (GRCm39) A306S probably benign Het
Pepd A G 7: 34,642,115 (GRCm39) probably null Het
Ppp1r36 T A 12: 76,484,760 (GRCm39) W238R probably damaging Het
Ppp1r36 G T 12: 76,484,761 (GRCm39) W238L possibly damaging Het
Prpf6 T G 2: 181,249,958 (GRCm39) D39E probably benign Het
Rassf5 T A 1: 131,108,932 (GRCm39) Q163L possibly damaging Het
Rbm43 T A 2: 51,815,607 (GRCm39) T205S probably benign Het
Relch T A 1: 105,647,226 (GRCm39) V672D probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sds C A 5: 120,621,715 (GRCm39) Q286K possibly damaging Het
Slc35a3 A T 3: 116,474,839 (GRCm39) C184* probably null Het
Smg1 G A 7: 117,738,659 (GRCm39) T3530I possibly damaging Het
Sspo T C 6: 48,470,214 (GRCm39) V591A probably benign Het
Stam2 T C 2: 52,610,929 (GRCm39) D31G probably damaging Het
Star A G 8: 26,299,945 (GRCm39) K96E probably damaging Het
Syne3 A G 12: 104,921,931 (GRCm39) L495P probably damaging Het
Tceanc2 A T 4: 107,022,846 (GRCm39) M47K probably benign Het
Tmem241 C T 18: 12,176,320 (GRCm39) R116K probably benign Het
Yipf2 G A 9: 21,503,487 (GRCm39) A20V probably benign Het
Zc3h4 T A 7: 16,162,930 (GRCm39) D443E unknown Het
Zfp184 T A 13: 22,142,747 (GRCm39) V151D probably benign Het
Zhx1 T C 15: 57,916,695 (GRCm39) Y517C probably damaging 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
IGL02813:Tecpr2 APN 12 110,899,626 (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
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
Predicted Primers PCR Primer
(F):5'- TCCTAGAATGATCTGTCTTTCTGAC -3'
(R):5'- TGTCAGACAGAAGAGGACTCC -3'

Sequencing Primer
(F):5'- CTGACGTTGTTCACATTTTCAATCAG -3'
(R):5'- GACCTCTGTCTCTGGAGTGC -3'
Posted On 2016-10-05