Mutagenetix > Incidental Mutations

Incidental Mutation 'R7110:Tecpr2'

551466

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 #

R7110 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110889264-110972394 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 110918972 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 195 (L195R)

Ref Sequence

ENSEMBL: ENSMUSP00000127949 (fasta)

Gene Model

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

AlphaFold

Q3UH45

Predicted Effect

probably damaging
Transcript: ENSMUST00000165978
AA Change: L195R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127949
Gene: ENSMUSG00000021275
AA Change: L195R

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: L195R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126749
Gene: ENSMUSG00000021275
AA Change: L195R

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: ENSMUST00000223210
AA Change: L195R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (62/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	A	G	11: 58,425,745	T184A	possibly damaging	Het
Abca4	T	A	3: 122,132,643	Y1243N	probably damaging	Het
Adamts7	A	G	9: 90,193,964	T1250A	possibly damaging	Het
Adgrg3	T	C	8: 95,034,963	V118A	possibly damaging	Het
Agrn	A	G	4: 156,178,875	V364A	possibly damaging	Het
Cacna2d1	C	A	5: 16,357,784	L853I	probably damaging	Het
Ccdc25	A	G	14: 65,856,716	K124R	probably benign	Het
Ccdc73	A	G	2: 104,973,224	M236V	probably benign	Het
Cdh1	G	A	8: 106,668,544	D862N	possibly damaging	Het
Cdh5	A	G	8: 104,140,768	D559G	probably damaging	Het
Celsr2	C	A	3: 108,397,865	G2133C	probably damaging	Het
Chd5	A	G	4: 152,385,439	N1823S	probably damaging	Het
Cog7	T	C	7: 121,935,776	N562S	probably damaging	Het
Dcaf6	A	T	1: 165,351,968	S534R	probably benign	Het
Donson	G	A	16: 91,682,121	R436*	probably null	Het
Fam53c	T	A	18: 34,762,470		probably null	Het
Foxi3	A	G	6: 70,960,746	T321A	probably benign	Het
Frmd4b	A	T	6: 97,296,231	Y733*	probably null	Het
Fscn2	A	T	11: 120,366,754	T314S	probably benign	Het
Gfral	A	G	9: 76,164,830	I386T	possibly damaging	Het
Gm21698	T	C	5: 25,985,177	E174G	probably damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,817		probably benign	Het
Gm9573	CGGGGTGGGTGTAGATCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGATGCAGGGGTGGTCGGGGTAGGTGTAGATCCTGAGGCAGTGCT	CGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGATGCAGGGGTGGTCGGGGTAGGTGTAGATCCTGAGGCAGTGCT	17: 35,622,618		probably benign	Het
Gprin1	T	C	13: 54,739,243	D406G	probably benign	Het
Habp2	A	T	19: 56,311,164	R128*	probably null	Het
Hoxc10	A	T	15: 102,970,921	Y292F	probably damaging	Het
Hydin	A	T	8: 110,354,951		probably null	Het
Igkv12-89	T	C	6: 68,835,131	D18G	probably damaging	Het
Jhy	T	C	9: 40,917,260	N450S	probably damaging	Het
Klhl18	T	A	9: 110,450,765	Q119L	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Lsmem1	A	T	12: 40,185,273		probably null	Het
Ly75	A	G	2: 60,376,184	I47T	probably benign	Het
Med12l	C	A	3: 59,262,224	T1603K	possibly damaging	Het
Mgat5	A	G	1: 127,382,979	D210G	possibly damaging	Het
Mgmt	G	T	7: 137,085,986	G55W	probably damaging	Het
Mrpl57	G	A	14: 57,826,297		probably benign	Het
Mtg1	G	A	7: 140,146,866	R209Q	probably benign	Het
Muc5ac	T	G	7: 141,799,822	C826W	possibly damaging	Het
Myot	A	G	18: 44,341,386	D146G	probably damaging	Het
Nlrp4f	T	A	13: 65,199,346	I11F	probably damaging	Het
Nsun5	T	A	5: 135,371,250	Y76N	probably damaging	Het
Olfr8	A	T	10: 78,955,450	M82L	possibly damaging	Het
Pcdhb3	A	G	18: 37,302,922	N647S	possibly damaging	Het
Pdgfra	T	A	5: 75,189,234	Y926*	probably null	Het
Pdzd2	A	T	15: 12,368,013	L2630H	probably damaging	Het
Phox2b	G	A	5: 67,096,162	S297L	unknown	Het
Polr3e	T	A	7: 120,940,287		probably null	Het
Ppp4r2	T	A	6: 100,865,862	V238E	probably damaging	Het
Proc	A	T	18: 32,133,388	F129I	probably benign	Het
Sgca	T	A	11: 94,963,401		probably null	Het
Slc7a10	A	G	7: 35,199,584	H360R	probably benign	Het
Slurp2	G	A	15: 74,743,115	T59I	probably benign	Het
Son	A	G	16: 91,656,518	T718A	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spink7	T	C	18: 62,594,267	N62S	probably damaging	Het
Stxbp3	C	A	3: 108,816,333	R195S	probably damaging	Het
Sulf1	G	A	1: 12,838,601	V613M	probably damaging	Het
Tbc1d9b	A	T	11: 50,163,830	I934F	probably benign	Het
Tns2	G	C	15: 102,105,366	C71S	probably damaging	Het
Tulp4	C	T	17: 6,231,780	H695Y	probably damaging	Het
Usp40	G	T	1: 87,986,162	T403K	probably benign	Het
Vat1	G	T	11: 101,465,713	R141S	possibly damaging	Het
Vmn2r28	T	G	7: 5,490,734	N71T	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
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
Z1176:Tecpr2	UTSW	12	110896310	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CAGTAGGTTAACAGTGAATCTGAAG -3'
(R):5'- CCATAAAGTGTCTTGGGCAGG -3'

Sequencing Primer
(F):5'- TTGAGTTCAGTACAGCCAGC -3'
(R):5'- TGTCTTGGGCAGGCACAG -3'

Posted On

2019-05-15