Incidental Mutation 'IGL01759:Tecpr2'
ID153551
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tecpr2
Ensembl Gene ENSMUSG00000021275
Gene Nametectonin beta-propeller repeat containing 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01759
Quality Score
Status
Chromosome12
Chromosomal Location110889264-110972394 bp(+) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) T to A at 110931392 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165978] [ENSMUST00000169597] [ENSMUST00000223210]
Predicted Effect probably benign
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 benign
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
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3 A T 11: 95,835,799 D150E probably damaging Het
Akr1c14 T A 13: 4,081,139 I277N probably damaging Het
Ap1b1 C T 11: 5,019,433 T263I probably damaging Het
Atp6v0d2 C A 4: 19,878,335 V313L probably damaging Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Car2 G A 3: 14,895,628 probably null Het
Cdh17 T A 4: 11,771,262 probably benign Het
Cep295 A G 9: 15,323,559 probably null Het
Cep97 T C 16: 55,930,573 K27E probably damaging Het
Cops5 A T 1: 10,027,249 N258K probably damaging Het
Dchs1 T A 7: 105,755,302 T2678S probably benign Het
Dnah10 T A 5: 124,755,786 F861Y probably benign Het
Dock10 T C 1: 80,526,273 E1777G probably damaging Het
Dock5 G A 14: 67,881,259 Q23* probably null Het
Ermp1 T C 19: 29,615,836 K752R probably benign Het
Fam160a1 A C 3: 85,688,447 I377S probably damaging Het
Gjd2 T A 2: 114,011,106 I297L probably benign Het
Gm1123 T C 9: 99,023,254 M68V probably benign Het
Gm28372 C T 2: 130,406,898 R59W probably damaging Het
Gm9912 A C 3: 149,185,438 F20V unknown Het
Gpat2 T C 2: 127,430,896 F176S possibly damaging Het
Gpr150 T C 13: 76,055,665 H387R possibly damaging Het
Gpr20 T A 15: 73,696,420 D40V probably damaging Het
Jakmip3 A T 7: 139,020,904 Q331L probably damaging Het
Kif5b A T 18: 6,211,019 probably benign Het
Kif5b A G 18: 6,225,647 V179A probably damaging Het
Krt14 A T 11: 100,204,416 probably benign Het
L3mbtl3 A G 10: 26,331,900 F307S unknown Het
Laptm4a T C 12: 8,934,687 probably benign Het
Marveld3 T C 8: 109,948,087 S366G possibly damaging Het
Mga C A 2: 119,951,195 T2234K possibly damaging Het
Mkrn2os T C 6: 115,592,331 N54S probably benign Het
Mras T C 9: 99,411,495 I31V probably damaging Het
Myh1 A G 11: 67,219,906 D1518G probably damaging Het
Myoz2 A T 3: 123,013,781 Y127N possibly damaging Het
Nhlrc1 C A 13: 47,013,962 W273L probably benign Het
Nol9 C T 4: 152,046,043 probably benign Het
Nrxn2 T C 19: 6,509,929 V1206A probably damaging Het
Olfr180 A T 16: 58,915,928 F238I probably damaging Het
Olfr523 T C 7: 140,176,534 I138T probably benign Het
Olfr694 T C 7: 106,689,333 T133A probably benign Het
Olfr774 T A 10: 129,239,072 F308I probably benign Het
Olfr971 T A 9: 39,839,611 M59K probably damaging Het
Pappa T C 4: 65,205,158 probably null Het
Pfkl A G 10: 78,000,731 S151P probably damaging Het
Pgbd5 C T 8: 124,384,379 G191D probably damaging Het
Pikfyve T C 1: 65,253,353 V1276A probably benign Het
Pla2g4c T A 7: 13,348,316 Y486N probably damaging Het
Rasal2 C A 1: 157,175,932 V386L probably benign Het
S1pr3 G A 13: 51,419,512 R243Q probably damaging Het
Slc44a4 A G 17: 34,921,243 D208G probably benign Het
Slc6a4 T C 11: 77,013,288 S190P probably damaging Het
Snapc5 A T 9: 64,180,497 probably null Het
Tbc1d14 C A 5: 36,571,569 R151L probably damaging Het
Tmem219 G A 7: 126,897,138 P44L probably damaging Het
Ube2e1 T C 14: 18,330,951 R51G probably null Het
Ugp2 T C 11: 21,353,447 K53E probably benign Het
Vmn1r214 T C 13: 23,034,492 I52T probably benign Het
Vmn2r124 C T 17: 18,064,068 T457I probably benign Het
Vps13b A G 15: 35,878,789 E2978G probably damaging Het
Zfr A G 15: 12,159,655 D679G probably damaging Het
Zhx3 T C 2: 160,780,714 N511S probably damaging Het
Other mutations in Tecpr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01114:Tecpr2 APN 12 110967779 missense possibly damaging 0.67
IGL02114:Tecpr2 APN 12 110968887 missense probably damaging 1.00
IGL02813:Tecpr2 APN 12 110933192 missense probably damaging 1.00
IGL02943:Tecpr2 APN 12 110967749 missense probably benign
IGL03085:Tecpr2 APN 12 110954826 splice site probably benign
IGL03290:Tecpr2 APN 12 110967833 missense possibly damaging 0.65
R0362:Tecpr2 UTSW 12 110968940 missense probably damaging 0.96
R0486:Tecpr2 UTSW 12 110896369 missense probably benign 0.01
R0662:Tecpr2 UTSW 12 110896228 missense probably benign 0.02
R0787:Tecpr2 UTSW 12 110946343 missense probably benign 0.30
R1147:Tecpr2 UTSW 12 110941438 splice site probably benign
R1454:Tecpr2 UTSW 12 110968953 missense probably benign 0.00
R1513:Tecpr2 UTSW 12 110954800 missense possibly damaging 0.94
R1567:Tecpr2 UTSW 12 110941596 critical splice donor site probably null
R1569:Tecpr2 UTSW 12 110944887 critical splice donor site probably null
R1818:Tecpr2 UTSW 12 110926454 missense probably damaging 1.00
R1856:Tecpr2 UTSW 12 110933064 missense probably benign
R1897:Tecpr2 UTSW 12 110933247 missense probably benign
R1903:Tecpr2 UTSW 12 110947912 missense probably damaging 0.98
R1939:Tecpr2 UTSW 12 110933169 missense probably damaging 0.98
R1982:Tecpr2 UTSW 12 110954785 missense probably benign 0.07
R2073:Tecpr2 UTSW 12 110968429 missense possibly damaging 0.51
R2393:Tecpr2 UTSW 12 110926402 missense probably damaging 0.99
R2443:Tecpr2 UTSW 12 110896325 missense probably damaging 1.00
R2484:Tecpr2 UTSW 12 110933318 missense probably benign
R4564:Tecpr2 UTSW 12 110954785 missense probably benign 0.07
R4723:Tecpr2 UTSW 12 110932976 missense probably benign 0.01
R4835:Tecpr2 UTSW 12 110954730 missense probably benign 0.00
R4847:Tecpr2 UTSW 12 110939877 missense probably damaging 1.00
R4911:Tecpr2 UTSW 12 110931487 missense possibly damaging 0.74
R5179:Tecpr2 UTSW 12 110944693 missense possibly damaging 0.63
R5266:Tecpr2 UTSW 12 110915402 missense probably damaging 1.00
R5386:Tecpr2 UTSW 12 110915453 missense probably damaging 1.00
R5486:Tecpr2 UTSW 12 110933015 missense probably benign 0.03
R5490:Tecpr2 UTSW 12 110914684 missense probably damaging 1.00
R5627:Tecpr2 UTSW 12 110941482 missense probably damaging 0.97
R5836:Tecpr2 UTSW 12 110931511 missense possibly damaging 0.76
R6052:Tecpr2 UTSW 12 110918891 missense possibly damaging 0.89
R6084:Tecpr2 UTSW 12 110929109 missense probably damaging 0.98
R6306:Tecpr2 UTSW 12 110944751 missense probably damaging 1.00
R6563:Tecpr2 UTSW 12 110929087 missense probably benign 0.00
R6936:Tecpr2 UTSW 12 110944863 missense possibly damaging 0.83
R6977:Tecpr2 UTSW 12 110939766 missense probably benign 0.17
R7110:Tecpr2 UTSW 12 110918972 missense probably damaging 1.00
R7132:Tecpr2 UTSW 12 110915372 missense probably damaging 0.97
R7353:Tecpr2 UTSW 12 110967844 missense probably benign 0.06
R7362:Tecpr2 UTSW 12 110941476 missense possibly damaging 0.85
R7366:Tecpr2 UTSW 12 110915480 critical splice donor site probably null
R7404:Tecpr2 UTSW 12 110931604 missense probably benign 0.00
R7478:Tecpr2 UTSW 12 110968439 missense probably benign 0.36
R7774:Tecpr2 UTSW 12 110933172 missense probably benign 0.00
R7922:Tecpr2 UTSW 12 110932642 frame shift probably null
R7997:Tecpr2 UTSW 12 110933603 missense probably benign 0.02
R8037:Tecpr2 UTSW 12 110936420 missense probably benign 0.03
R8038:Tecpr2 UTSW 12 110936420 missense probably benign 0.03
R8393:Tecpr2 UTSW 12 110944757 missense probably damaging 0.99
R8411:Tecpr2 UTSW 12 110931720 missense possibly damaging 0.63
Z1176:Tecpr2 UTSW 12 110896310 missense probably damaging 0.99
Posted On2014-02-04