Mutagenetix > Incidental Mutation

Incidental Mutation 'R5179:Tecpr2'

399418

Institutional Source

Beutler Lab

Gene Symbol

Tecpr2

Ensembl Gene

ENSMUSG00000021275

Gene Name

tectonin beta-propeller repeat containing 2

Synonyms

4930573I19Rik

MMRRC Submission

042759-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5179 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110855698-110938828 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110911127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1055 (T1055A)

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: T1055A

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000127949
Gene: ENSMUSG00000021275
AA Change: T1055A

Domain	Start	End	E-Value	Type
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: T1055A

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000126749
Gene: ENSMUSG00000021275
AA Change: T1055A

Domain	Start	End	E-Value	Type
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

0.1375

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

97% (37/38)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
B9d2	C	A	7: 25,380,826 (GRCm39)	H5Q	probably damaging	Het
Bhlhe40	T	C	6: 108,642,169 (GRCm39)	I371T	possibly damaging	Het
Bmp8a	C	T	4: 123,207,094 (GRCm39)	R389H	probably damaging	Het
Cc2d2a	T	A	5: 43,845,563 (GRCm39)	N326K	possibly damaging	Het
Ccdc154	A	G	17: 25,390,137 (GRCm39)	N545S	probably benign	Het
Ccser2	A	T	14: 36,601,308 (GRCm39)	S359T	possibly damaging	Het
Cd22	T	A	7: 30,575,299 (GRCm39)	T248S	possibly damaging	Het
Cylc2	T	C	4: 51,228,587 (GRCm39)		probably benign	Het
Dnhd1	T	C	7: 105,363,759 (GRCm39)	I4107T	probably damaging	Het
Egf	T	A	3: 129,479,936 (GRCm39)	H488L	probably damaging	Het
Epb41l4b	A	G	4: 57,063,181 (GRCm39)	V503A	probably benign	Het
Exd2	G	T	12: 80,531,118 (GRCm39)	W105L	probably damaging	Het
Flrt2	A	T	12: 95,747,121 (GRCm39)	R486S	probably benign	Het
Gadl1	C	A	9: 115,789,448 (GRCm39)	C251*	probably null	Het
Ifit2	C	A	19: 34,550,976 (GRCm39)	P172Q	probably damaging	Het
Incenp	G	C	19: 9,872,273 (GRCm39)	Q62E	unknown	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Lrg1	A	G	17: 56,427,795 (GRCm39)	L59P	possibly damaging	Het
Luc7l3	T	C	11: 94,190,879 (GRCm39)	E145G	possibly damaging	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Ndst3	A	G	3: 123,346,181 (GRCm39)	S698P	probably damaging	Het
Nploc4	T	C	11: 120,299,682 (GRCm39)	D346G	probably benign	Het
Or4m1	G	A	14: 50,557,993 (GRCm39)	Q100*	probably null	Het
Or56b1b	T	C	7: 108,164,433 (GRCm39)	I190V	probably benign	Het
Osbpl8	T	G	10: 111,108,025 (GRCm39)	D298E	probably benign	Het
Pcna-ps2	T	C	19: 9,260,891 (GRCm39)	L50P	probably damaging	Het
Ptgir	C	T	7: 16,641,253 (GRCm39)	P182S	probably damaging	Het
Rictor	A	G	15: 6,825,421 (GRCm39)	Y1653C	probably damaging	Het
Sgcd	T	A	11: 46,871,711 (GRCm39)	E208V	probably benign	Het
Slc7a8	A	T	14: 54,962,289 (GRCm39)	C448*	probably null	Het
Sos2	G	A	12: 69,697,502 (GRCm39)	R73*	probably null	Het
Usp47	T	C	7: 111,692,639 (GRCm39)	Y1014H	probably damaging	Het
Vmn2r6	A	T	3: 64,445,411 (GRCm39)	F682L	probably benign	Het

Other mutations in Tecpr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- CCCAGGGACATAATACAGCTG -3'
(R):5'- GACTTCCTTTAGCAACATGGAATTC -3'

Sequencing Primer
(F):5'- GGGACATAATACAGCTGCTTATTAG -3'
(R):5'- GGAATTCATTCTTCCCTGAGGAGATC -3'

Posted On

2016-07-06