Mutagenetix > Incidental Mutation

Incidental Mutation 'R1982:Tecpr2'

220003

Institutional Source

Beutler Lab

Gene Symbol

Tecpr2

Ensembl Gene

ENSMUSG00000021275

Gene Name

tectonin beta-propeller repeat containing 2

Synonyms

4930573I19Rik

MMRRC Submission

039994-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1982 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110855698-110938828 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110921219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1264 (M1264K)

Ref Sequence

ENSEMBL: ENSMUSP00000126749 (fasta)

Gene Model

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

AlphaFold

Q3UH45

Predicted Effect

probably benign
Transcript: ENSMUST00000165978
AA Change: M1264K

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000127949
Gene: ENSMUSG00000021275
AA Change: M1264K

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: M1264K

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000126749
Gene: ENSMUSG00000021275
AA Change: M1264K

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

0.2408

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	G	T	11: 119,904,340 (GRCm39)	P252Q	probably damaging	Het
Adamts4	T	C	1: 171,086,503 (GRCm39)	V765A	probably benign	Het
Agfg2	A	T	5: 137,662,515 (GRCm39)	V184E	possibly damaging	Het
Alas1	A	T	9: 106,115,384 (GRCm39)	I48N	probably damaging	Het
Anks1	T	C	17: 28,204,095 (GRCm39)	V181A	probably damaging	Het
Anxa8	A	T	14: 33,818,527 (GRCm39)	R261S	probably damaging	Het
Aqp4	T	C	18: 15,526,608 (GRCm39)	D291G	probably damaging	Het
Atrn	A	G	2: 130,812,142 (GRCm39)	R696G	probably benign	Het
Barx2	A	C	9: 31,824,308 (GRCm39)	I27S	probably damaging	Het
Btnl1	A	T	17: 34,598,725 (GRCm39)	I114L	possibly damaging	Het
Casq1	C	T	1: 172,043,097 (GRCm39)	A200T	probably damaging	Het
Ccdc33	T	A	9: 58,024,451 (GRCm39)	E225D	probably benign	Het
Cd84	C	A	1: 171,712,152 (GRCm39)		probably null	Het
Ceacam9	T	G	7: 16,459,232 (GRCm39)	L177R	probably benign	Het
Cenpi	T	A	X: 133,218,782 (GRCm39)	F161L	possibly damaging	Het
Cep63	T	C	9: 102,480,079 (GRCm39)	K251E	probably damaging	Het
Cetn3	A	G	13: 81,932,816 (GRCm39)	E25G	probably damaging	Het
Crybg3	T	C	16: 59,364,488 (GRCm39)	D2378G	possibly damaging	Het
Ddx19b	T	C	8: 111,735,975 (GRCm39)	T357A	possibly damaging	Het
Dpep2	A	C	8: 106,716,087 (GRCm39)	Y266*	probably null	Het
Dqx1	G	A	6: 83,035,558 (GRCm39)	D24N	probably damaging	Het
Dsg4	A	T	18: 20,604,269 (GRCm39)	Y912F	probably damaging	Het
Fezf2	G	T	14: 12,344,405 (GRCm38)	P261T	probably benign	Het
Fmo1	T	C	1: 162,667,325 (GRCm39)	I163M	possibly damaging	Het
Garin1a	A	G	6: 29,285,921 (GRCm39)	T69A	probably benign	Het
Gatad2a	G	A	8: 70,365,782 (GRCm39)	R428*	probably null	Het
Gfpt1	T	A	6: 87,031,612 (GRCm39)	F85I	possibly damaging	Het
Gimap7	A	T	6: 48,701,175 (GRCm39)	I254F	possibly damaging	Het
Glcci1	T	C	6: 8,592,980 (GRCm39)	S261P	probably damaging	Het
Glis3	A	T	19: 28,508,674 (GRCm39)	F437I	probably damaging	Het
Glp1r	C	A	17: 31,144,601 (GRCm39)	S258*	probably null	Het
Gpt2	C	T	8: 86,242,832 (GRCm39)	A288V	possibly damaging	Het
Grin2c	G	T	11: 115,151,731 (GRCm39)	S76R	possibly damaging	Het
Guf1	T	A	5: 69,724,569 (GRCm39)	Y447*	probably null	Het
H2-T9	T	A	17: 36,439,614 (GRCm39)	D122V	probably damaging	Het
Hectd1	A	C	12: 51,832,624 (GRCm39)	L916V	probably damaging	Het
Hnf4g	A	G	3: 3,703,268 (GRCm39)	K96E	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ifi207	T	G	1: 173,562,805 (GRCm39)	M114L	probably benign	Het
Ifi35	A	T	11: 101,349,112 (GRCm39)	E252V	probably damaging	Het
Igsf9b	G	A	9: 27,233,535 (GRCm39)	R345H	possibly damaging	Het
Itih3	T	C	14: 30,645,540 (GRCm39)		probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Kidins220	A	T	12: 25,101,193 (GRCm39)	M1252L	probably benign	Het
Kifap3	T	A	1: 163,689,591 (GRCm39)	L525*	probably null	Het
Limk2	A	T	11: 3,305,461 (GRCm39)	D35E	probably benign	Het
Lrrc37a	G	A	11: 103,389,792 (GRCm39)	P1878S	probably benign	Het
Mansc4	T	A	6: 146,977,173 (GRCm39)	I148F	probably benign	Het
Mei1	A	G	15: 81,987,513 (GRCm39)	N859S	probably benign	Het
Mib1	A	G	18: 10,812,064 (GRCm39)	D987G	probably damaging	Het
Mroh8	A	G	2: 157,113,895 (GRCm39)	V132A	possibly damaging	Het
Npnt	T	C	3: 132,653,893 (GRCm39)	I29M	probably benign	Het
Nrap	T	C	19: 56,372,537 (GRCm39)	D138G	probably damaging	Het
Or10a3m	A	G	7: 108,312,902 (GRCm39)	Y102C	probably damaging	Het
Or1e16	A	T	11: 73,285,918 (GRCm39)	I310N	probably benign	Het
Or2h1	T	A	17: 37,404,700 (GRCm39)	E22V	probably damaging	Het
Or6z7	T	C	7: 6,483,931 (GRCm39)	M75V	probably benign	Het
Osbpl5	A	C	7: 143,295,408 (GRCm39)		probably null	Het
Pcna-ps2	T	C	19: 9,261,047 (GRCm39)	V102A	possibly damaging	Het
Pik3c2g	T	C	6: 139,599,546 (GRCm39)	S221P	probably damaging	Het
Plppr3	A	G	10: 79,702,259 (GRCm39)	I271T	probably damaging	Het
Ppp4r3c1	A	T	X: 88,975,051 (GRCm39)	V382E	probably damaging	Het
Pramel25	C	A	4: 143,521,720 (GRCm39)	H445Q	probably benign	Het
Prkar1b	C	T	5: 139,113,398 (GRCm39)	A41T	probably benign	Het
Prkcsh	A	G	9: 21,924,164 (GRCm39)	D458G	probably damaging	Het
Prr14	G	T	7: 127,074,662 (GRCm39)	R398L	possibly damaging	Het
Ptafr	A	G	4: 132,307,296 (GRCm39)	R229G	probably damaging	Het
Rbp3	T	C	14: 33,676,502 (GRCm39)	F150S	probably damaging	Het
Rel	C	T	11: 23,692,761 (GRCm39)	G424D	probably benign	Het
Rlf	T	C	4: 121,007,309 (GRCm39)	Y557C	probably damaging	Het
Samt3	A	C	X: 85,090,740 (GRCm39)	M211L	probably benign	Het
Selenop	A	T	15: 3,305,176 (GRCm39)	I111F	probably damaging	Het
Slc2a2	G	A	3: 28,771,590 (GRCm39)	M173I	probably benign	Het
Slc43a1	G	T	2: 84,687,233 (GRCm39)	G361V	possibly damaging	Het
Slit2	G	A	5: 48,407,178 (GRCm39)	V870M	probably damaging	Het
Ssxb10	A	G	X: 8,197,258 (GRCm39)	D77G	probably benign	Het
Stk32b	T	A	5: 37,806,458 (GRCm39)	I29F	probably damaging	Het
Stra6l	T	A	4: 45,867,237 (GRCm39)	C161*	probably null	Het
Tfap2c	A	T	2: 172,399,156 (GRCm39)	I468F	probably damaging	Het
Ticam1	C	T	17: 56,578,555 (GRCm39)	R180H	probably damaging	Het
Tlr4	T	A	4: 66,759,272 (GRCm39)	N688K	probably benign	Het
Tmem35b	A	T	4: 127,019,846 (GRCm39)		probably benign	Het
Ugt2b34	T	C	5: 87,054,172 (GRCm39)	E203G	probably damaging	Het
Vegfa	A	C	17: 46,329,786 (GRCm39)	*393G	probably null	Het
Vmn2r16	T	C	5: 109,511,890 (GRCm39)	V699A	probably benign	Het
Zfp324	T	C	7: 12,705,145 (GRCm39)	S445P	probably damaging	Het
Zfp982	T	A	4: 147,597,049 (GRCm39)	C135*	probably null	Het
Zfp990	A	C	4: 145,263,439 (GRCm39)	N146H	probably damaging	Het
Zfyve26	A	G	12: 79,302,017 (GRCm39)	Y431H	possibly damaging	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
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
R5179:Tecpr2	UTSW	12	110,911,127 (GRCm39)	missense	possibly damaging	0.63
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'- TTCAGCTGGAGACGTACCTC -3'
(R):5'- CTCAAATAACCTGTTCAGCTCTAAG -3'

Sequencing Primer
(F):5'- ACCTCCTGTCTTTCTTTGAAGTAGAG -3'
(R):5'- TCTAAGCTTCCCAAATACCAAAATC -3'

Posted On

2014-08-25