Incidental Mutation 'IGL03085:Tecpr2'
ID418089
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 #IGL03085
Quality Score
Status
Chromosome12
Chromosomal Location110889264-110972394 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 110954826 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
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik A T 14: 63,971,432 H230Q probably benign Het
Aagab T A 9: 63,639,034 probably benign Het
Actl11 G T 9: 107,929,550 K357N probably damaging Het
Aktip A G 8: 91,126,023 probably null Het
Amtn A G 5: 88,381,642 probably benign Het
Arhgap21 T A 2: 20,914,721 M58L probably benign Het
Art2b T A 7: 101,580,578 Y38F probably damaging Het
Asb10 T C 5: 24,539,603 probably benign Het
Atm A T 9: 53,484,171 D1699E possibly damaging Het
Azi2 A C 9: 118,059,146 K259T probably damaging Het
Bcas3 A G 11: 85,476,783 D77G probably damaging Het
Birc6 G A 17: 74,596,950 R1246H probably damaging Het
Cdh13 C A 8: 119,288,724 D559E probably damaging Het
Chrm3 C T 13: 9,877,534 A489T probably damaging Het
Ckap2l A T 2: 129,285,047 Y404N probably benign Het
Col18a1 A G 10: 77,059,181 probably benign Het
Col4a1 T A 8: 11,222,198 K731* probably null Het
Corin A T 5: 72,353,930 C360S probably damaging Het
Cyp1a1 A C 9: 57,701,712 H292P possibly damaging Het
Dennd5b A G 6: 149,027,395 V760A probably damaging Het
Dhx57 T C 17: 80,258,097 D842G possibly damaging Het
Emp2 C A 16: 10,288,046 probably benign Het
Eral1 G A 11: 78,078,267 R136C probably damaging Het
Fat2 T A 11: 55,283,246 M2214L probably benign Het
Flnb G A 14: 7,882,211 R304H probably benign Het
G6pd2 A T 5: 61,810,302 E473D probably benign Het
Gpx8 A G 13: 113,043,261 Y169H probably damaging Het
Ighv1-64 A G 12: 115,507,841 S19P possibly damaging Het
Ikbkb G T 8: 22,682,786 N139K probably benign Het
Inpp5b A T 4: 124,792,322 T720S probably benign Het
Kmt2d C A 15: 98,839,940 probably benign Het
Lrig2 G A 3: 104,467,259 P169S probably damaging Het
Magi3 T A 3: 104,015,339 K1354I possibly damaging Het
Mapk9 A T 11: 49,867,038 D103V probably damaging Het
Mrpl46 A T 7: 78,781,585 I75N probably damaging Het
Olfr402 T A 11: 74,155,685 I177N probably damaging Het
Olfr890 A G 9: 38,143,183 E16G probably damaging Het
Olfr926 G A 9: 38,877,663 M162I probably benign Het
Otog G T 7: 46,305,922 probably null Het
Pex11a A G 7: 79,737,775 L103P probably damaging Het
Pnpla8 A G 12: 44,311,522 T687A probably benign Het
Ppm1d A G 11: 85,337,163 I302V probably null Het
Prdm11 C A 2: 92,974,959 V549F possibly damaging Het
Prss54 G A 8: 95,565,630 P107L probably benign Het
Rasa3 T A 8: 13,585,690 N422I probably benign Het
Rbm27 T C 18: 42,327,524 probably benign Het
Rpl13-ps3 A T 14: 58,893,707 noncoding transcript Het
Rps6ka2 G A 17: 7,295,280 probably null Het
Sphkap T A 1: 83,280,354 I223F possibly damaging Het
Srm T C 4: 148,593,381 F159L probably damaging Het
Stt3a A G 9: 36,732,970 probably benign Het
Tacr3 T C 3: 134,932,266 S395P possibly damaging Het
Tmub1 C T 5: 24,446,098 G188S probably damaging Het
Trim66 T A 7: 109,458,745 I877F probably benign Het
Ubr5 T C 15: 38,029,568 E471G probably damaging Het
Vmn1r218 A T 13: 23,137,311 Y196F possibly damaging Het
Vmn2r89 T A 14: 51,452,158 D39E probably damaging Het
Wee1 C A 7: 110,124,598 P240Q probably damaging Het
Zc3h12a A T 4: 125,127,020 V10D probably benign Het
Zzef1 T C 11: 72,855,524 probably benign Het
Other mutations in Tecpr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01114:Tecpr2 APN 12 110967779 missense possibly damaging 0.67
IGL01759:Tecpr2 APN 12 110931392 utr 3 prime probably benign
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
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
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
Z1176:Tecpr2 UTSW 12 110896310 missense probably damaging 0.99
Posted On2016-08-02