Incidental Mutation 'R7362:Tecpr2'
ID 571435
Institutional Source Beutler Lab
Gene Symbol Tecpr2
Ensembl Gene ENSMUSG00000021275
Gene Name tectonin beta-propeller repeat containing 2
Synonyms 4930573I19Rik
MMRRC Submission 045375-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7362 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 110855698-110938828 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 110907910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 999 (V999D)
Ref Sequence ENSEMBL: ENSMUSP00000127949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165978] [ENSMUST00000169597] [ENSMUST00000223210]
AlphaFold Q3UH45
Predicted Effect possibly damaging
Transcript: ENSMUST00000165978
AA Change: V999D

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127949
Gene: ENSMUSG00000021275
AA Change: V999D

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 possibly damaging
Transcript: ENSMUST00000169597
AA Change: V999D

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000126749
Gene: ENSMUSG00000021275
AA Change: V999D

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 C T 8: 13,295,534 (GRCm39) R193K probably damaging Het
Aoc1 G T 6: 48,882,345 (GRCm39) V74L probably benign Het
Bfsp1 G C 2: 143,668,795 (GRCm39) P601A probably benign Het
Bicd1 A C 6: 149,385,591 (GRCm39) K108T probably benign Het
Btbd18 C T 2: 84,491,887 (GRCm39) Q23* probably null Het
Ccser1 A G 6: 61,787,864 (GRCm39) I227M unknown Het
Cd151 G A 7: 141,049,502 (GRCm39) V70I probably benign Het
Cdh10 A G 15: 18,899,780 (GRCm39) T36A probably benign Het
Crb2 A G 2: 37,680,211 (GRCm39) T380A probably benign Het
Csmd3 A C 15: 47,619,388 (GRCm39) S1829A possibly damaging Het
Dgat2 A T 7: 98,803,843 (GRCm39) H359Q probably damaging Het
Dhdds T C 4: 133,698,441 (GRCm39) T298A probably benign Het
Egfem1 A G 3: 29,206,069 (GRCm39) Q102R probably benign Het
Eps15 T A 4: 109,223,439 (GRCm39) probably null Het
Ern1 T A 11: 106,327,949 (GRCm39) D61V probably damaging Het
Fcamr G A 1: 130,741,760 (GRCm39) R511Q possibly damaging Het
Grhpr T C 4: 44,987,255 (GRCm39) V213A probably benign Het
Gsx2 A G 5: 75,236,765 (GRCm39) D115G possibly damaging Het
Hoxd3 A G 2: 74,574,563 (GRCm39) I70V possibly damaging Het
Inpp5a A G 7: 139,158,296 (GRCm39) I408V probably benign Het
Kansl3 A T 1: 36,383,208 (GRCm39) D759E possibly damaging Het
Lrrc37a T G 11: 103,348,335 (GRCm39) T2787P unknown Het
Mier3 G A 13: 111,841,783 (GRCm39) G115S possibly damaging Het
Mkln1 T C 6: 31,445,103 (GRCm39) I333T probably benign Het
Myt1 T A 2: 181,439,033 (GRCm39) V227D probably benign Het
Or1a1 T C 11: 74,086,412 (GRCm39) F28L probably benign Het
Or52s1 T A 7: 102,861,861 (GRCm39) Y265N probably damaging Het
Or7e171-ps1 C T 9: 19,853,527 (GRCm39) D70N probably damaging Het
Pcf11 A G 7: 92,302,453 (GRCm39) L1219P possibly damaging Het
Pde6g T C 11: 120,338,950 (GRCm39) E80G probably damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Ppp3cb T A 14: 20,573,719 (GRCm39) Q304L probably benign Het
Prr19 T C 7: 25,003,343 (GRCm39) L319P probably damaging Het
Prss23 C T 7: 89,158,972 (GRCm39) A366T probably damaging Het
Rock2 T C 12: 17,008,422 (GRCm39) L560P probably damaging Het
Simc1 A T 13: 54,687,517 (GRCm39) R95S probably damaging Het
Slc10a6 A T 5: 103,776,992 (GRCm39) V36E probably damaging Het
Slco1c1 A T 6: 141,515,189 (GRCm39) T695S probably benign Het
Spata31h1 T A 10: 82,128,831 (GRCm39) Q1393L possibly damaging Het
Ssh2 T C 11: 77,340,476 (GRCm39) F543L probably benign Het
Tnfsf10 A T 3: 27,389,497 (GRCm39) Y186F probably damaging Het
Tnk2 A T 16: 32,494,338 (GRCm39) probably null Het
Tram1 T C 1: 13,659,832 (GRCm39) M39V probably benign Het
Uck2 C T 1: 167,065,211 (GRCm39) V36I possibly damaging Het
Ugcg T A 4: 59,217,109 (GRCm39) M211K probably damaging Het
Vash2 A T 1: 190,692,496 (GRCm39) S226R probably damaging Het
Vmn1r172 T A 7: 23,359,841 (GRCm39) M242K probably damaging Het
Vmn2r82 A T 10: 79,232,451 (GRCm39) M817L probably benign Het
Vwa5b1 T C 4: 138,321,623 (GRCm39) N390S probably damaging Het
Wdr73 T A 7: 80,550,451 (GRCm39) D17V probably damaging Het
Wdr91 A T 6: 34,866,050 (GRCm39) S501T possibly damaging Het
Zfp454 A G 11: 50,777,194 (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
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
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
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'- TGCCCAGCAATGCACCTTAG -3'
(R):5'- CCACAGGAAAGTCATCTCCTAAATG -3'

Sequencing Primer
(F):5'- ATGCACCTTAGGCGCAGATC -3'
(R):5'- CTCTTAAGGAAAAGAGCGAAGGC -3'
Posted On 2019-09-13