Mutagenetix > Incidental Mutations

Incidental Mutation 'R2484:Tecpr2'

250867

Institutional Source

Beutler Lab

Gene Symbol

Tecpr2

Ensembl Gene

ENSMUSG00000021275

Gene Name

tectonin beta-propeller repeat containing 2

Synonyms

MMRRC Submission

040408-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2484 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110889264-110972394 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110933318 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 707 (S707P)

Ref Sequence

ENSEMBL: ENSMUSP00000126749 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000165978
AA Change: S707P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127949
Gene: ENSMUSG00000021275
AA Change: S707P

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: S707P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126749
Gene: ENSMUSG00000021275
AA Change: S707P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223246

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (72/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	G	17: 56,882,641	N252S	probably benign	Het
4932414N04Rik	G	A	2: 68,711,475	D46N	possibly damaging	Het
A830018L16Rik	G	T	1: 11,596,302	A278S	probably damaging	Het
Adarb2	A	T	13: 8,569,774	K99*	probably null	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Atxn1l	A	G	8: 109,732,251	S460P	probably damaging	Het
Bicra	T	A	7: 15,988,680	N304I	possibly damaging	Het
Capn10	A	T	1: 92,944,843	D470V	probably damaging	Het
Chchd3	A	G	6: 32,804,015	Y184H	possibly damaging	Het
Col6a6	T	C	9: 105,780,804	I736M	probably damaging	Het
Dhx36	T	A	3: 62,472,815	N820I	probably damaging	Het
Drd4	C	T	7: 141,294,736	P347S	probably benign	Het
Ephx1	A	T	1: 180,989,972	V378D	probably damaging	Het
Extl3	A	T	14: 65,075,735	V666E	probably damaging	Het
Fam20c	G	C	5: 138,809,117	R500S	probably benign	Het
Glod4	A	T	11: 76,239,518	D42E	probably damaging	Het
Golga2	T	C	2: 32,304,770	I643T	probably benign	Het
Hnf1b	A	T	11: 83,861,835	T73S	probably benign	Het
Hydin	A	G	8: 110,513,115	Y2009C	possibly damaging	Het
Ido2	A	G	8: 24,533,815	C336R	probably damaging	Het
Ifngr1	T	C	10: 19,601,415	V108A	probably damaging	Het
Igbp1b	A	T	6: 138,657,494	N317K	probably benign	Het
Ints14	A	G	9: 64,986,084	S511G	probably benign	Het
Itpr1	T	C	6: 108,369,110	S125P	probably damaging	Het
Jag1	T	C	2: 137,084,700	T975A	possibly damaging	Het
Klra17	A	G	6: 129,868,757	W165R	probably damaging	Het
Leo1	T	A	9: 75,445,473	N99K	possibly damaging	Het
Lonp1	C	A	17: 56,614,659	G883C	probably damaging	Het
Lpin1	C	A	12: 16,547,499	G682W	probably damaging	Het
Macf1	A	C	4: 123,473,672	L2432R	probably damaging	Het
Med12l	T	G	3: 59,297,838	I2075M	probably benign	Het
Mroh6	A	G	15: 75,884,328	S660P	probably benign	Het
Myh6	G	T	14: 54,961,242	Y309*	probably null	Het
Myof	C	T	19: 37,903,843	R1154H	probably benign	Het
Myrip	G	A	9: 120,424,619	E253K	probably benign	Het
Ndst3	T	C	3: 123,552,537	D281G	possibly damaging	Het
Nipbl	T	C	15: 8,323,698	K1788R	probably damaging	Het
Nol12	A	G	15: 78,940,517		probably benign	Het
Nptn	A	G	9: 58,643,673	T212A	possibly damaging	Het
Nptx2	C	T	5: 144,556,345	A414V	probably damaging	Het
Nub1	A	G	5: 24,708,702	D503G	possibly damaging	Het
Obscn	T	A	11: 59,007,540		probably benign	Het
Olfr1253	A	G	2: 89,752,234	I198T	probably benign	Het
Olfr1447	C	T	19: 12,901,641	M46I	probably benign	Het
Olfr635	A	G	7: 103,979,338	T49A	probably benign	Het
Pcnx2	T	C	8: 125,891,120	E132G	probably damaging	Het
Pkdcc	A	G	17: 83,222,238		probably benign	Het
Prdm2	T	A	4: 143,135,206	I505F	probably damaging	Het
Psmc3	C	G	2: 91,056,001	Q169E	probably damaging	Het
Ptger4	A	T	15: 5,235,173	I334N	probably benign	Het
Ptrh1	T	C	2: 32,777,171	M161T	probably benign	Het
Rapgef6	T	A	11: 54,642,756	V482D	possibly damaging	Het
Rdh16f2	T	C	10: 127,875,077	S188P	probably damaging	Het
Rrh	T	C	3: 129,822,391	Y31C	probably damaging	Het
Selp	G	T	1: 164,143,954	W659L	probably benign	Het
Selp	G	T	1: 164,143,955	W659C	probably damaging	Het
Shh	A	G	5: 28,466,742	C8R	probably benign	Het
Spdye4b	C	A	5: 143,202,093	S167R	possibly damaging	Het
Strip1	T	C	3: 107,628,221	Y62C	possibly damaging	Het
Sucla2	A	T	14: 73,581,709	I232F	probably benign	Het
Sugp1	A	G	8: 70,069,524	D437G	possibly damaging	Het
Taf1a	A	G	1: 183,396,084		probably benign	Het
Tbc1d20	T	A	2: 152,311,363	M271K	probably damaging	Het
Tert	G	A	13: 73,647,985	R1017H	probably benign	Het
Tox	C	G	4: 6,688,886	V493L	probably damaging	Het
Tpo	C	T	12: 30,103,969	A246T	probably benign	Het
Traf7	A	T	17: 24,511,639	V358D	probably damaging	Het
Trim56	C	T	5: 137,112,674	V663M	possibly damaging	Het
Unc80	C	T	1: 66,521,581	H823Y	possibly damaging	Het
Usf3	C	T	16: 44,220,682	H1842Y	probably damaging	Het
Uvrag	T	C	7: 98,888,461	E509G	probably benign	Het
Vmn2r5	T	C	3: 64,503,971	D305G	possibly damaging	Het
Vmn2r52	T	C	7: 10,169,131	R457G	probably damaging	Het
Vti1a	A	C	19: 55,380,979	N101T	possibly damaging	Het
Zfp236	A	G	18: 82,668,637	F259L	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
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

Predicted Primers

PCR Primer
(F):5'- ACCATGGAGTTCAGTGACCC -3'
(R):5'- GTCCGTGGGCATAAATGTCTTC -3'

Sequencing Primer
(F):5'- CCCAGAGCACGTTTTCTGAAG -3'
(R):5'- GGGCATAAATGTCTTCCTCATCACTG -3'

Posted On

2014-12-04