Mutagenetix > Incidental Mutation

Incidental Mutation 'R1818:Tecpr2'

204638

Institutional Source

Beutler Lab

Gene Symbol

Tecpr2

Ensembl Gene

ENSMUSG00000021275

Gene Name

tectonin beta-propeller repeat containing 2

Synonyms

MMRRC Submission

039846-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1818 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110889264-110972394 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110926454 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 310 (Y310C)

Ref Sequence

ENSEMBL: ENSMUSP00000152826 (fasta)

Gene Model

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

AlphaFold

Q3UH45

Predicted Effect

probably damaging
Transcript: ENSMUST00000165978
AA Change: Y310C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127949
Gene: ENSMUSG00000021275
AA Change: Y310C

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 damaging
Transcript: ENSMUST00000169597
AA Change: Y310C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126749
Gene: ENSMUSG00000021275
AA Change: Y310C

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

noncoding transcript
Transcript: ENSMUST00000221605

Predicted Effect

probably damaging
Transcript: ENSMUST00000223210
AA Change: Y310C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223246

Coding Region Coverage

1x: 97.3%
3x: 96.6%
10x: 94.5%
20x: 90.4%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,075,858		probably null	Het
Adam6b	T	A	12: 113,491,256	N564K	probably benign	Het
Ahi1	A	G	10: 20,988,562	Y731C	probably damaging	Het
Ankk1	A	G	9: 49,420,425	Y190H	probably benign	Het
Ankmy1	T	A	1: 92,886,831	D318V	probably benign	Het
Ankrd33b	G	A	15: 31,367,121	A91V	probably damaging	Het
Ap3b1	A	G	13: 94,471,704	N561S	possibly damaging	Het
Apob	A	G	12: 8,006,834	N1739S	probably damaging	Het
Apob	A	G	12: 8,013,064	T236A	possibly damaging	Het
Birc6	G	A	17: 74,649,849	A3593T	probably damaging	Het
Bnc2	A	G	4: 84,291,874	F778L	possibly damaging	Het
Capn2	T	A	1: 182,472,597	K609N	probably benign	Het
Car9	G	T	4: 43,512,439		probably null	Het
Card11	A	T	5: 140,885,560	D729E	probably benign	Het
Ccl20	A	G	1: 83,117,808	Y30C	probably damaging	Het
Cd209a	G	A	8: 3,745,576	T106I	probably damaging	Het
Cebpz	A	G	17: 78,935,376	L283P	probably damaging	Het
Cecr2	A	G	6: 120,731,267	T77A	probably damaging	Het
Clec4e	T	A	6: 123,285,493	D155V	possibly damaging	Het
Col25a1	G	A	3: 130,585,737		probably null	Het
Cyp2j11	A	T	4: 96,297,739	V403D	probably damaging	Het
Cyp4v3	G	A	8: 45,315,636	R296C	possibly damaging	Het
Ddx59	A	G	1: 136,432,507	I420V	probably damaging	Het
Denr	T	A	5: 123,917,220	D49E	probably benign	Het
Dnaaf3	A	T	7: 4,523,569		probably null	Het
Dnaaf3	G	T	7: 4,523,570	L503M	probably benign	Het
Dnah7a	A	C	1: 53,559,148	D1409E	probably benign	Het
Ehd4	C	T	2: 120,102,404	W180*	probably null	Het
Ephb2	A	G	4: 136,655,336	S984P	probably benign	Het
Eva1a	T	C	6: 82,071,144	M1T	probably null	Het
Fam90a1a	C	G	8: 21,963,771	P381A	possibly damaging	Het
Fam90a1a	C	A	8: 21,963,772	P381Q	probably damaging	Het
Flnc	T	C	6: 29,457,448	Y2382H	probably damaging	Het
Flrt1	A	T	19: 7,095,346	L612Q	probably damaging	Het
Fubp1	T	A	3: 152,222,169	N419K	probably damaging	Het
Gin1	A	G	1: 97,785,226		probably null	Het
Gm11639	T	A	11: 104,721,507	L652Q	probably benign	Het
Gm4847	T	A	1: 166,638,219	H267L	probably damaging	Het
Golga4	T	G	9: 118,572,987	V91G	probably damaging	Het
Hip1r	T	C	5: 123,995,955		probably null	Het
Ice2	A	G	9: 69,432,101	S967G	probably benign	Het
Il18rap	A	G	1: 40,531,527	I210V	probably benign	Het
Impdh2	T	G	9: 108,563,212		probably null	Het
Inmt	C	A	6: 55,173,419	V78F	possibly damaging	Het
Inpp5e	T	C	2: 26,397,874	S637G	probably benign	Het
Kansl1	T	C	11: 104,342,457	H748R	possibly damaging	Het
Kif28	T	C	1: 179,705,754	K541E	possibly damaging	Het
Kifc1	G	A	17: 33,884,711	R195C	probably benign	Het
Kifc2	T	C	15: 76,666,081	V480A	probably damaging	Het
Lrrc74a	T	C	12: 86,737,710	Y71H	probably damaging	Het
Ly75	T	G	2: 60,311,777	T1330P	probably damaging	Het
Macf1	A	G	4: 123,376,417	V6647A	probably damaging	Het
Mgat1	T	C	11: 49,261,284	I198T	possibly damaging	Het
Morc3	A	G	16: 93,855,510	Y367C	probably damaging	Het
Mpp6	T	G	6: 50,163,431	F144V	probably benign	Het
Mtfr1	A	G	3: 19,215,673	T162A	probably damaging	Het
Myrip	C	T	9: 120,388,162	S49L	probably damaging	Het
Nup153	A	T	13: 46,681,637	N1397K	possibly damaging	Het
Olfr196	T	C	16: 59,167,880	K88E	probably benign	Het
Olfr883	T	C	9: 38,026,507	S234P	probably damaging	Het
Olfr935	T	C	9: 38,994,606	I276M	possibly damaging	Het
Olfr986	T	C	9: 40,187,262	V49A	probably benign	Het
Pabpc2	G	T	18: 39,774,110	V143L	probably damaging	Het
Panx3	T	C	9: 37,664,026	K180R	probably benign	Het
Patj	G	A	4: 98,623,648	V144M	possibly damaging	Het
Pde1c	T	A	6: 56,126,892	K651*	probably null	Het
Pde4c	A	G	8: 70,726,989	H63R	probably benign	Het
Pdha2	T	A	3: 141,211,199	K183*	probably null	Het
Pkd1l3	T	A	8: 109,648,406	C1504S	probably benign	Het
Plbd2	A	T	5: 120,487,509		probably null	Het
Poteg	G	A	8: 27,450,167	W121*	probably null	Het
Prf1	C	A	10: 61,302,983	T240N	probably damaging	Het
Ptprf	A	G	4: 118,209,871	Y1883H	probably damaging	Het
Puf60	T	C	15: 76,071,474	T322A	possibly damaging	Het
Rev3l	A	G	10: 39,828,424	I281M	probably benign	Het
Rufy1	T	C	11: 50,414,572	I305V	probably benign	Het
Shisa9	A	C	16: 12,267,562	Q329P	probably damaging	Het
Siglech	G	A	7: 55,768,584	R100Q	probably damaging	Het
Slc13a5	T	A	11: 72,253,343	Y303F	probably benign	Het
Snx6	C	T	12: 54,783,474	V67I	possibly damaging	Het
Spef2	C	T	15: 9,584,108	E1624K	probably damaging	Het
Top1	T	A	2: 160,715,723	L575Q	probably damaging	Het
Usp16	C	T	16: 87,479,132	R452*	probably null	Het
Utrn	A	G	10: 12,709,964		probably null	Het
Vps13b	G	A	15: 35,877,577	G2899E	probably benign	Het
Wdr78	A	G	4: 103,072,657	V56A	possibly damaging	Het
Wipi2	T	A	5: 142,658,208	L115Q	probably damaging	Het
Zbtb7c	A	C	18: 76,137,525	E228A	probably damaging	Het
Zfp26	T	C	9: 20,442,191	T101A	probably benign	Het
Zfp593	A	T	4: 134,245,083		probably null	Het
Zfp646	G	A	7: 127,883,120	G1490S	probably benign	Het
Zfp948	G	A	17: 21,584,807	V20M	probably damaging	Het
Zranb3	A	T	1: 128,017,556		probably null	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
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
R8726:Tecpr2	UTSW	12	110938234	missense	possibly damaging	0.82
R9155:Tecpr2	UTSW	12	110914750	missense	probably damaging	1.00
R9259:Tecpr2	UTSW	12	110931433	missense	possibly damaging	0.87
R9279:Tecpr2	UTSW	12	110929071	missense	possibly damaging	0.56
R9562:Tecpr2	UTSW	12	110947707	missense	possibly damaging	0.65
Z1176:Tecpr2	UTSW	12	110896310	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTTCAAGCCACATATATCCTCAAGG -3'
(R):5'- GCACGTGTGAGTTTTGCATAC -3'

Sequencing Primer
(F):5'- CCTCAAGGATGTCTTTGCTGGC -3'
(R):5'- CGTGTGAGTTTTGCATACACACAC -3'

Posted On

2014-06-23