Mutagenetix > Incidental Mutation

Incidental Mutation 'R8726:Tecpr2'

662448

Institutional Source

Beutler Lab

Gene Symbol

Tecpr2

Ensembl Gene

ENSMUSG00000021275

Gene Name

tectonin beta-propeller repeat containing 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8726 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110889264-110972394 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110938234 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 887 (F887L)

Ref Sequence

ENSEMBL: ENSMUSP00000127949 (fasta)

Gene Model

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

AlphaFold

Q3UH45

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165978
AA Change: F887L

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127949
Gene: ENSMUSG00000021275
AA Change: F887L

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: F887L

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126749
Gene: ENSMUSG00000021275
AA Change: F887L

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: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (76/76)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	A	G	11: 69,898,381	S331P	possibly damaging	Het
4930433I11Rik	A	G	7: 40,994,802	M632V	probably benign	Het
9930111J21Rik2	A	C	11: 49,019,680	V642G	probably damaging	Het
Abcd4	A	T	12: 84,604,397		probably benign	Het
Acsbg1	T	C	9: 54,618,178	E363G	probably damaging	Het
Ank3	T	A	10: 69,987,254	H584Q		Het
Ankrd11	A	T	8: 122,894,026	L1029Q	possibly damaging	Het
Anpep	C	T	7: 79,840,893	V292I	probably benign	Het
Atmin	G	A	8: 116,954,786	D175N	possibly damaging	Het
B4galt6	T	C	18: 20,688,393	I359M	possibly damaging	Het
Bicd2	A	G	13: 49,379,429	D497G	probably damaging	Het
Calcr	C	T	6: 3,707,489		probably benign	Het
Camkk2	G	T	5: 122,743,939	D418E	probably benign	Het
Cntn3	A	T	6: 102,169,053	Y942*	probably null	Het
Col8a1	C	T	16: 57,628,775	R124H	probably damaging	Het
Coro7	T	C	16: 4,668,755	T185A	possibly damaging	Het
Creb3	C	T	4: 43,566,747	P364S	probably benign	Het
Csf1r	A	T	18: 61,117,656	T480S	probably benign	Het
Csnk1g1	T	A	9: 66,002,271	H223Q	probably damaging	Het
Ctns	C	T	11: 73,187,787	V171M	probably benign	Het
Dhx15	A	T	5: 52,154,226	N637K	probably benign	Het
Eif4g1	T	C	16: 20,675,482	Y103H	probably damaging	Het
Eif4g2	C	T	7: 111,077,422	R295H	probably damaging	Het
Fam126b	T	C	1: 58,546,126	T171A	possibly damaging	Het
Fat1	C	T	8: 45,024,169	P2084L	probably benign	Het
Fat4	A	G	3: 39,010,498	R4868G	probably damaging	Het
Fbxo31	A	T	8: 121,555,275	Y295*	probably null	Het
Fmn2	C	A	1: 174,609,838	T1125N	possibly damaging	Het
Foxi2	C	A	7: 135,410,404	P7Q	probably damaging	Het
Hmx1	C	T	5: 35,391,756	P131L	probably damaging	Het
Hrh2	T	C	13: 54,214,152	L49P	probably damaging	Het
Igkv6-14	A	G	6: 70,435,141	V53A	possibly damaging	Het
Kcnb2	C	A	1: 15,710,652	Q583K	probably benign	Het
Kcns3	A	G	12: 11,091,691	S336P	probably damaging	Het
Kremen2	G	T	17: 23,742,746	F262L	probably damaging	Het
Krtap9-1	T	A	11: 99,873,751	C104*	probably null	Het
Ky	A	G	9: 102,527,903	Y199C	probably damaging	Het
L1td1	T	G	4: 98,733,978	L259R	probably damaging	Het
Lrba	A	G	3: 86,353,755	T1473A	probably benign	Het
Lrp6	A	T	6: 134,507,661	L333*	probably null	Het
Lrrc23	T	C	6: 124,776,080	N201S	probably benign	Het
Map4k4	C	A	1: 40,003,982	P666T	possibly damaging	Het
Matn1	T	A	4: 130,952,203	D389E	probably damaging	Het
Mdc1	G	T	17: 35,847,583	G285V	probably benign	Het
Mettl17	T	C	14: 51,890,730		probably null	Het
Mknk1	A	T	4: 115,873,309		probably benign	Het
Neurod1	A	T	2: 79,454,086	F318I	possibly damaging	Het
Nfya	T	C	17: 48,392,417	T213A	probably damaging	Het
Nmrk1	C	T	19: 18,639,538	T17M	probably damaging	Het
Ntrk1	A	C	3: 87,786,089	D245E	probably benign	Het
Nup160	C	A	2: 90,733,201	H1370Q	possibly damaging	Het
Olfr1151	T	C	2: 87,857,817	V214A	probably benign	Het
Olfr745	A	C	14: 50,643,246	K316Q	probably benign	Het
Olfr986	T	A	9: 40,187,367	V84E	probably damaging	Het
Parp4	G	A	14: 56,629,099	R1040H	probably benign	Het
Pdia4	C	A	6: 47,808,266	E56*	probably null	Het
Pdia5	A	G	16: 35,449,414	F175S	probably damaging	Het
Piezo2	C	T	18: 63,109,885	S621N	probably benign	Het
Pigw	T	C	11: 84,877,817	T229A	possibly damaging	Het
Rasa3	T	C	8: 13,576,381	Y734C	probably benign	Het
Rfx7	T	A	9: 72,593,223		probably benign	Het
Rims1	T	C	1: 22,594,100	D178G	possibly damaging	Het
Ros1	A	G	10: 52,078,673	V1853A	possibly damaging	Het
Rps7	A	G	12: 28,631,715	I139T	probably benign	Het
Sall3	T	C	18: 80,986,493	D15G	possibly damaging	Het
Scn1a	A	T	2: 66,303,639	V137D	probably benign	Het
Slc23a3	G	A	1: 75,129,529	P349S	probably benign	Het
Slc35a5	C	G	16: 45,143,658	R404P	probably damaging	Het
Stard13	A	T	5: 151,063,142	M301K	probably benign	Het
Suclg2	A	G	6: 95,655,508	F60S	probably damaging	Het
Tekt4	G	T	17: 25,472,059	W113L	probably damaging	Het
Tep1	G	A	14: 50,847,623	S901F	probably damaging	Het
Tex11	C	T	X: 101,015,585	V190I	possibly damaging	Het
Thbs1	T	A	2: 118,119,476		probably null	Het
Tm9sf4	T	A	2: 153,198,375	V425D	probably damaging	Het
Tpo	A	G	12: 30,055,138	L911P	possibly damaging	Het
Ttn	T	C	2: 76,898,957	Q5332R	unknown	Het
Wdr59	A	T	8: 111,496,834	D169E		Het
Zfp799	C	A	17: 32,820,192	G367C	probably damaging	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
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
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'- TTAAACTCTGGCATGGTGGG -3'
(R):5'- GTCTCTGCATCCTGTGACTG -3'

Sequencing Primer
(F):5'- GCATGGTGGGCTCTTCC -3'
(R):5'- CAGAATGTGTCTAGCTGCAGATTCAG -3'

Posted On

2021-03-08