Mutagenetix > Incidental Mutations

Incidental Mutation 'R7774:Tecpr2'

598785

Institutional Source

Beutler Lab

Gene Symbol

Tecpr2

Ensembl Gene

ENSMUSG00000021275

Gene Name

tectonin beta-propeller repeat containing 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7774 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110889264-110972394 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110933172 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 658 (D658G)

Ref Sequence

ENSEMBL: ENSMUSP00000127949 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165978] [ENSMUST00000169597] [ENSMUST00000223210]

Predicted Effect

probably benign
Transcript: ENSMUST00000165978
AA Change: D658G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000127949
Gene: ENSMUSG00000021275
AA Change: D658G

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: ENSMUST00000169597
AA Change: D658G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000126749
Gene: ENSMUSG00000021275
AA Change: D658G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	G	T	15: 98,596,533	T809N	probably benign	Het
Adgb	C	A	10: 10,339,660	E1561*	probably null	Het
Adgra1	A	T	7: 139,847,712	H65L	possibly damaging	Het
Adprhl1	C	T	8: 13,248,682	V83I	probably damaging	Het
Atrnl1	G	T	19: 57,699,671	G856V	probably damaging	Het
Cc2d2b	A	G	19: 40,765,717	K177E	unknown	Het
Ccdc122	T	C	14: 77,067,939	V11A	probably benign	Het
Clasp2	T	A	9: 113,848,736		probably null	Het
Col6a1	T	C	10: 76,709,876	T921A	unknown	Het
Cul3	A	C	1: 80,269,294	D697E	probably benign	Het
Defa34	G	A	8: 21,665,962	E56K	probably benign	Het
Dhrs7c	A	G	11: 67,809,815	R63G	probably damaging	Het
Dnah3	T	A	7: 119,951,752	K136*	probably null	Het
Exoc7	T	C	11: 116,295,316	D353G	possibly damaging	Het
Fbxw21	T	C	9: 109,143,840	Y342C	probably benign	Het
Fitm2	T	A	2: 163,470,066	I76F	probably damaging	Het
Fryl	A	T	5: 73,083,384	I1291N	probably benign	Het
Fzd2	A	T	11: 102,605,488	I253F	possibly damaging	Het
Gm13089	C	T	4: 143,697,106	S371N	possibly damaging	Het
Gm5592	A	T	7: 41,289,859	Y855F	probably damaging	Het
Helz2	T	C	2: 181,233,991	Y1570C	probably benign	Het
Hist1h1t	A	G	13: 23,696,200	K112R	possibly damaging	Het
Hist4h4	G	T	6: 136,804,283	P33T	possibly damaging	Het
Ints11	A	G	4: 155,885,683	T228A	probably benign	Het
Ipo13	G	T	4: 117,914,297	N25K	probably benign	Het
Itga9	T	A	9: 118,871,900	I917N	probably damaging	Het
Krt39	T	C	11: 99,514,611		probably null	Het
Krtap13-1	C	T	16: 88,729,173	T95I	possibly damaging	Het
Ldlrad4	G	T	18: 68,235,792	E107*	probably null	Het
Lrrc6	T	G	15: 66,449,552	I247L	probably benign	Het
Ly6a	A	T	15: 74,997,567	I13N	probably damaging	Het
Mfsd4b4	T	C	10: 39,892,411	T275A	probably benign	Het
Mgat3	C	T	15: 80,211,542	T190M	probably damaging	Het
Muc5b	G	A	7: 141,842,379	R124H	unknown	Het
Mucl1	G	T	15: 103,753,684	N85K	possibly damaging	Het
Nifk	G	A	1: 118,327,661	E96K	possibly damaging	Het
Olfr290	T	A	7: 84,916,531	F251I	probably damaging	Het
Olfr600	T	C	7: 103,346,530	R133G	possibly damaging	Het
Olfr895	T	C	9: 38,269,359	V274A	probably damaging	Het
Opn3	C	T	1: 175,662,905	V397M	probably damaging	Het
Pcdha2	A	G	18: 36,941,526	M737V	probably benign	Het
Pdk4	T	A	6: 5,492,757	D98V	possibly damaging	Het
Pkhd1l1	A	G	15: 44,540,907	T2311A	probably benign	Het
Pla2r1	A	T	2: 60,530,458	C195*	probably null	Het
Polr1b	C	A	2: 129,125,544	F952L	probably damaging	Het
Ptprq	T	C	10: 107,643,669	T1166A	probably damaging	Het
Ran	G	A	5: 129,022,810	D215N	probably benign	Het
Rb1cc1	T	C	1: 6,248,085	F604L	possibly damaging	Het
Rgl1	T	A	1: 152,554,350	E227D	probably benign	Het
Sec24b	C	A	3: 129,984,197	R1204L	possibly damaging	Het
Shroom3	T	C	5: 92,950,489	L1276P	probably damaging	Het
Smarcad1	T	A	6: 65,107,830	M820K	probably damaging	Het
Sptbn1	A	T	11: 30,142,142	M541K	probably damaging	Het
Tcp11l2	T	C	10: 84,604,983	V351A	possibly damaging	Het
Tlr6	T	G	5: 64,953,385	E726D	probably damaging	Het
Tmem218	T	A	9: 37,222,568	H101Q	probably benign	Het
Tnfrsf4	C	T	4: 156,014,338	Q82*	probably null	Het
Trpm7	A	G	2: 126,813,238	V1260A	probably benign	Het
Trpm8	A	T	1: 88,330,841	E282V	probably damaging	Het
Tuba8	T	C	6: 121,223,389	V344A	probably damaging	Het
Tvp23a	A	G	16: 10,427,381		probably null	Het
Zfp174	G	A	16: 3,849,351	V135M	probably damaging	Het
Zfp418	G	A	7: 7,182,777	V580I	possibly damaging	Het
Zfp451	T	A	1: 33,805,393	E44D	probably benign	Het
Zfp521	T	C	18: 13,845,781	D525G	probably benign	Het

Other mutations in Tecpr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Predicted Primers

PCR Primer
(F):5'- TTTACCCTTGCAGCCAGAGG -3'
(R):5'- AAAAGTGGGTGTTTCCTTCTGAC -3'

Sequencing Primer
(F):5'- TTGCAGCCAGAGGAGGATGTG -3'
(R):5'- TGTGTTACTGTCAGTTAGTAAATGCC -3'

Posted On

2019-11-26