Incidental Mutation 'R2073:Tecpr2'
ID 227361
Institutional Source Beutler Lab
Gene Symbol Tecpr2
Ensembl Gene ENSMUSG00000021275
Gene Name tectonin beta-propeller repeat containing 2
Synonyms 4930573I19Rik
MMRRC Submission 040078-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2073 (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 110934863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1370 (S1370P)
Ref Sequence ENSEMBL: ENSMUSP00000126749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165978] [ENSMUST00000169597] [ENSMUST00000223210]
AlphaFold Q3UH45
Predicted Effect possibly damaging
Transcript: ENSMUST00000165978
AA Change: S1370P

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000127949
Gene: ENSMUSG00000021275
AA Change: S1370P

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: S1370P

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000126749
Gene: ENSMUSG00000021275
AA Change: S1370P

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik T C 7: 130,959,242 (GRCm39) R153G probably benign Het
5730596B20Rik C A 6: 52,155,962 (GRCm39) Y9* probably null Het
Aco1 G A 4: 40,183,605 (GRCm39) G508S probably damaging Het
Acot3 A G 12: 84,100,230 (GRCm39) H2R possibly damaging Het
Adamts13 T A 2: 26,896,326 (GRCm39) C1240S probably damaging Het
Adra1b T C 11: 43,726,698 (GRCm39) N73S probably damaging Het
Aebp2 G A 6: 140,579,420 (GRCm39) S219N probably benign Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Ank T C 15: 27,565,108 (GRCm39) S270P probably benign Het
Ankle1 G A 8: 71,861,973 (GRCm39) R492H possibly damaging Het
Ankub1 G A 3: 57,599,713 (GRCm39) H19Y possibly damaging Het
Anln C A 9: 22,244,464 (GRCm39) W1083L probably benign Het
Apaf1 G T 10: 90,867,556 (GRCm39) S763* probably null Het
Apba3 A G 10: 81,105,128 (GRCm39) T134A probably benign Het
Armh3 A T 19: 45,953,820 (GRCm39) I188K probably damaging Het
Bod1l C T 5: 41,976,532 (GRCm39) S1594N probably benign Het
C7 T C 15: 5,019,910 (GRCm39) M746V probably benign Het
Cdkn2a T A 4: 89,212,730 (GRCm39) I11F possibly damaging Het
Cideb T C 14: 55,992,617 (GRCm39) M100V possibly damaging Het
Cntnap5c T C 17: 58,612,547 (GRCm39) L862P possibly damaging Het
Coch A T 12: 51,649,472 (GRCm39) D261V probably benign Het
Cyp2ab1 A G 16: 20,132,639 (GRCm39) F220L possibly damaging Het
Ddx10 A T 9: 53,151,805 (GRCm39) D73E probably benign Het
Dgkg A G 16: 22,384,067 (GRCm39) F462S probably damaging Het
Dlgap3 C T 4: 127,089,159 (GRCm39) H252Y probably damaging Het
Dmd G C X: 83,356,089 (GRCm39) A2257P probably benign Het
Dnaaf6rt A G 1: 31,262,077 (GRCm39) S20G probably benign Het
Dnai4 G A 4: 102,907,390 (GRCm39) T632M probably damaging Het
Dtnb A G 12: 3,831,273 (GRCm39) T658A probably benign Het
Duox2 T A 2: 122,125,639 (GRCm39) S323C probably damaging Het
Dync1h1 T A 12: 110,581,026 (GRCm39) I251N probably damaging Het
Eml5 A G 12: 98,768,705 (GRCm39) S1457P probably damaging Het
Fam114a1 T A 5: 65,153,247 (GRCm39) probably null Het
Fcho1 A T 8: 72,163,133 (GRCm39) L632Q probably damaging Het
Gm12695 T C 4: 96,612,182 (GRCm39) Y527C possibly damaging Het
Gm16223 T C 5: 42,371,942 (GRCm39) C111R unknown Het
H2-Q4 T A 17: 35,599,378 (GRCm39) S154T possibly damaging Het
Hhat A G 1: 192,409,687 (GRCm39) F125L possibly damaging Het
Ier5l T A 2: 30,363,068 (GRCm39) D319V probably damaging Het
Kif5a T C 10: 127,081,238 (GRCm39) D232G probably damaging Het
M1ap A G 6: 82,958,863 (GRCm39) I165V probably benign Het
Map2k4 A C 11: 65,584,282 (GRCm39) F334V probably damaging Het
Mmp19 G A 10: 128,630,848 (GRCm39) R156H probably damaging Het
Mpped2 T A 2: 106,575,147 (GRCm39) Y77* probably null Het
Nhs T A X: 160,625,717 (GRCm39) H544L probably damaging Het
Nr4a1 C A 15: 101,171,948 (GRCm39) H541N probably damaging Het
Or4a74 A G 2: 89,439,822 (GRCm39) V208A probably benign Het
Or5b122 A T 19: 13,562,965 (GRCm39) Q99L probably damaging Het
Pak6 A C 2: 118,519,332 (GRCm39) N17T probably damaging Het
Pcnt T A 10: 76,216,214 (GRCm39) T2225S possibly damaging Het
Pdzd2 A G 15: 12,385,905 (GRCm39) L955P probably damaging Het
Phf21a A G 2: 92,178,381 (GRCm39) D357G probably damaging Het
Pkhd1l1 G T 15: 44,422,035 (GRCm39) A3102S probably damaging Het
Plch2 A T 4: 155,074,366 (GRCm39) L754Q probably damaging Het
Plekhd1 A G 12: 80,768,066 (GRCm39) N335D probably benign Het
Pole C A 5: 110,473,417 (GRCm39) T1737N probably damaging Het
Potefam1 T C 2: 111,030,763 (GRCm39) E382G probably damaging Het
Pramel6 G A 2: 87,339,088 (GRCm39) S96N probably damaging Het
Prdm14 A C 1: 13,195,954 (GRCm39) Y36D possibly damaging Het
Psg27 T C 7: 18,294,342 (GRCm39) D355G probably damaging Het
Rfc1 A T 5: 65,459,282 (GRCm39) D225E probably damaging Het
Sec16a A G 2: 26,330,251 (GRCm39) I588T probably damaging Het
Setd6 G A 8: 96,443,416 (GRCm39) V60M probably damaging Het
Sgk3 A G 1: 9,961,649 (GRCm39) I432V probably benign Het
Six2 A G 17: 85,994,933 (GRCm39) S150P probably damaging Het
Slc1a6 T C 10: 78,635,964 (GRCm39) V343A possibly damaging Het
Slc43a3 T C 2: 84,774,956 (GRCm39) probably null Het
Smc3 A G 19: 53,619,964 (GRCm39) D620G probably benign Het
Smg6 C G 11: 74,821,120 (GRCm39) P464A probably damaging Het
Sox11 T C 12: 27,392,278 (GRCm39) T44A possibly damaging Het
Spata22 A G 11: 73,227,052 (GRCm39) R89G possibly damaging Het
Spmip6 A G 4: 41,507,519 (GRCm39) probably null Het
Stk3 T C 15: 34,959,195 (GRCm39) M256V possibly damaging Het
Syne2 A G 12: 76,062,353 (GRCm39) D4226G possibly damaging Het
Tek A G 4: 94,715,966 (GRCm39) I463V probably benign Het
Trib1 T A 15: 59,526,189 (GRCm39) I253N probably damaging Het
Triobp G T 15: 78,858,095 (GRCm39) G1232V probably damaging Het
Trpm6 G A 19: 18,853,406 (GRCm39) V1809M probably damaging Het
Tsc22d4 A G 5: 137,760,749 (GRCm39) K57E possibly damaging Het
Vmn2r109 T A 17: 20,784,974 (GRCm39) K15N probably benign Het
Wnt9a A G 11: 59,222,055 (GRCm39) N318D probably damaging Het
Wwp1 A G 4: 19,662,181 (GRCm39) V138A possibly damaging Het
Zfp37 A T 4: 62,109,945 (GRCm39) M411K probably damaging Het
Zfp715 T A 7: 42,960,544 (GRCm39) T16S probably benign Het
Zfp932 A G 5: 110,157,684 (GRCm39) T461A possibly damaging Het
Zscan29 A T 2: 120,991,336 (GRCm39) C817* 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
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'- TCCAGAGGTGAGCTGATACC -3'
(R):5'- GGCCGTTCATCTCTACAATCTGTG -3'

Sequencing Primer
(F):5'- AGGTGAGCTGATACCAACTTTGC -3'
(R):5'- CCAGATTGGCTTGGAACTCACTATG -3'
Posted On 2014-09-17