Incidental Mutation 'R1569:Tecpr2'
ID 177140
Institutional Source Beutler Lab
Gene Symbol Tecpr2
Ensembl Gene ENSMUSG00000021275
Gene Name tectonin beta-propeller repeat containing 2
Synonyms 4930573I19Rik
MMRRC Submission 039608-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1569 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 110855698-110938828 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 110911321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165978] [ENSMUST00000169597] [ENSMUST00000223210]
AlphaFold Q3UH45
Predicted Effect probably null
Transcript: ENSMUST00000165978
SMART Domains Protein: ENSMUSP00000127949
Gene: ENSMUSG00000021275

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 null
Transcript: ENSMUST00000169597
SMART Domains Protein: ENSMUSP00000126749
Gene: ENSMUSG00000021275

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
Meta Mutation Damage Score 0.9495 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.3%
Validation Efficiency 96% (72/75)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,056,427 (GRCm39) K166* probably null Het
Abca2 T A 2: 25,329,197 (GRCm39) N1012K probably benign Het
Ahnak T C 19: 8,981,458 (GRCm39) V914A possibly damaging Het
Akap1 T A 11: 88,724,006 (GRCm39) M833L probably benign Het
Atp2b1 T A 10: 98,823,188 (GRCm39) H249Q probably benign Het
Atp6v0a4 A G 6: 38,027,560 (GRCm39) V750A probably damaging Het
Car6 T C 4: 150,285,499 (GRCm39) Y23C probably damaging Het
Celsr3 A G 9: 108,706,267 (GRCm39) T917A probably damaging Het
Clmn C A 12: 104,747,340 (GRCm39) D736Y probably damaging Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dennd4c G A 4: 86,704,331 (GRCm39) R282H possibly damaging Het
Dsg1b T A 18: 20,529,537 (GRCm39) N327K probably damaging Het
Eftud2 A T 11: 102,745,597 (GRCm39) probably benign Het
Esyt1 G T 10: 128,354,863 (GRCm39) S512R possibly damaging Het
Fam124b T C 1: 80,190,852 (GRCm39) Y177C possibly damaging Het
Fbxl5 A T 5: 43,922,803 (GRCm39) I205K probably damaging Het
Fcrl1 A G 3: 87,292,012 (GRCm39) Y57C probably damaging Het
Gabpb1 A T 2: 126,494,171 (GRCm39) D151E probably benign Het
Gcc2 C T 10: 58,105,993 (GRCm39) L310F probably benign Het
Hsd11b1 C G 1: 192,922,635 (GRCm39) E141Q probably damaging Het
Htr1b A G 9: 81,514,340 (GRCm39) V89A probably benign Het
Ibsp A T 5: 104,458,017 (GRCm39) T185S probably damaging Het
Igfn1 T C 1: 135,896,771 (GRCm39) D1265G probably benign Het
Ints9 T C 14: 65,217,571 (GRCm39) Y33H possibly damaging Het
Kif1a A T 1: 92,986,532 (GRCm39) probably benign Het
Lama1 A T 17: 68,087,613 (GRCm39) probably null Het
Lbp A T 2: 158,161,607 (GRCm39) D223V probably damaging Het
Lck C A 4: 129,449,449 (GRCm39) D283Y probably damaging Het
Lcmt2 A G 2: 120,970,309 (GRCm39) F258S probably damaging Het
Lsg1 G T 16: 30,399,823 (GRCm39) probably null Het
Maip1 T C 1: 57,452,554 (GRCm39) probably benign Het
Mark3 T G 12: 111,600,180 (GRCm39) I465S probably benign Het
Marveld2 C T 13: 100,737,506 (GRCm39) V128I probably benign Het
Mcm3ap A G 10: 76,319,022 (GRCm39) H750R possibly damaging Het
Mdn1 A T 4: 32,723,501 (GRCm39) Q2479L probably null Het
Met A T 6: 17,531,503 (GRCm39) K594* probably null Het
Pak2 G T 16: 31,856,113 (GRCm39) S241R probably damaging Het
Plxna4 T C 6: 32,162,410 (GRCm39) I1368V possibly damaging Het
Pparg T C 6: 115,416,960 (GRCm39) I51T probably benign Het
Ppp1r18 A G 17: 36,179,595 (GRCm39) E62G probably damaging Het
Prkag2 T C 5: 25,152,475 (GRCm39) S86G possibly damaging Het
Rabgap1l A T 1: 160,529,960 (GRCm39) I347K probably benign Het
Rdh1 A T 10: 127,598,941 (GRCm39) M141L probably benign Het
Rfx2 A T 17: 57,111,326 (GRCm39) I82N possibly damaging Het
Sh2b2 G A 5: 136,260,589 (GRCm39) A209V possibly damaging Het
Sh3d19 G A 3: 86,033,951 (GRCm39) R768H possibly damaging Het
Sh3rf1 C T 8: 61,837,896 (GRCm39) P814S probably damaging Het
Shbg T A 11: 69,508,415 (GRCm39) probably benign Het
Slc15a2 T C 16: 36,576,745 (GRCm39) T430A probably benign Het
Slc17a3 A T 13: 24,039,591 (GRCm39) I250F probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spg11 A G 2: 121,932,187 (GRCm39) S552P probably damaging Het
Srpk2 A G 5: 23,719,024 (GRCm39) I597T probably damaging Het
St6galnac1 T G 11: 116,660,097 (GRCm39) N72T possibly damaging Het
Tmem208 T A 8: 106,061,462 (GRCm39) C163S possibly damaging Het
Tpte T C 8: 22,835,047 (GRCm39) V401A probably damaging Het
Trhde A G 10: 114,282,093 (GRCm39) W795R possibly damaging Het
Trpm3 G A 19: 22,866,809 (GRCm39) probably null Het
Ttn T A 2: 76,626,063 (GRCm39) T14999S possibly damaging Het
Txndc2 A T 17: 65,945,921 (GRCm39) N85K probably benign Het
Yes1 A G 5: 32,810,507 (GRCm39) Y192C probably damaging Het
Zan A G 5: 137,427,392 (GRCm39) V2415A unknown Het
Zfp410 T A 12: 84,379,726 (GRCm39) C311S probably damaging Het
Zfp51 A T 17: 21,676,642 (GRCm39) M38L probably benign Het
Zfp560 A T 9: 20,260,011 (GRCm39) C284S possibly damaging Het
Zfp808 C T 13: 62,320,714 (GRCm39) R648* probably null Het
Zfp976 G T 7: 42,262,806 (GRCm39) H344N 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
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
Predicted Primers PCR Primer
(F):5'- TGACCAGTGCAGCTTGTTCCAG -3'
(R):5'- GTGATGACACATCGTCCAGACACC -3'

Sequencing Primer
(F):5'- GCAGCTTGTTCCAGACCATC -3'
(R):5'- TCGTCCAGACACCAAGTTTTAGG -3'
Posted On 2014-04-24