Mutagenetix > Incidental Mutation

Incidental Mutation 'R7922:Tecpr2'

648476

Institutional Source

Beutler Lab

Gene Symbol

Tecpr2

Ensembl Gene

ENSMUSG00000021275

Gene Name

tectonin beta-propeller repeat containing 2

Synonyms

4930573I19Rik

MMRRC Submission

045969-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7922 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

110855698-110938828 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

CA to C at 110899076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127949 (fasta)

Gene Model

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

AlphaFold

Q3UH45

Predicted Effect

probably null
Transcript: ENSMUST00000165978

SMART Domains

Protein: ENSMUSP00000127949
Gene: ENSMUSG00000021275

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 null
Transcript: ENSMUST00000169597

SMART Domains

Protein: ENSMUSP00000126749
Gene: ENSMUSG00000021275

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: 99.7%
20x: 98.9%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	T	12: 71,211,180 (GRCm39)	T638M	possibly damaging	Het
4930546C10Rik	A	G	18: 69,083,067 (GRCm39)		probably null	Het
Abi3	A	T	11: 95,723,619 (GRCm39)	Y342N	unknown	Het
Adk	G	A	14: 21,368,111 (GRCm39)	V195I	probably benign	Het
Ago2	C	T	15: 72,998,375 (GRCm39)	V268M	possibly damaging	Het
Apaf1	T	C	10: 90,835,615 (GRCm39)	I1077V	probably benign	Het
Arap1	A	T	7: 101,053,621 (GRCm39)	K1317*	probably null	Het
Auts2	T	A	5: 131,469,211 (GRCm39)	D493V		Het
Baz1b	A	T	5: 135,260,533 (GRCm39)	Q1110L	probably damaging	Het
Brsk2	T	A	7: 141,546,957 (GRCm39)	S467T	possibly damaging	Het
Btbd9	A	T	17: 30,493,858 (GRCm39)	M511K	probably benign	Het
Cdh23	T	A	10: 60,218,485 (GRCm39)	Y1385F	probably benign	Het
Cfap100	A	C	6: 90,380,962 (GRCm39)	L427V	unknown	Het
Cnga1	A	G	5: 72,762,225 (GRCm39)	F430L	possibly damaging	Het
Csnk2a1-ps3	A	T	1: 156,352,562 (GRCm39)	L254F	probably damaging	Het
Dnhd1	A	T	7: 105,317,721 (GRCm39)	D472V	probably damaging	Het
Dock2	T	A	11: 34,598,154 (GRCm39)	E339V	probably benign	Het
Eif3a	A	T	19: 60,764,280 (GRCm39)	V379E	probably damaging	Het
Erich4	T	A	7: 25,315,168 (GRCm39)	N36Y	probably damaging	Het
Frem2	T	C	3: 53,560,725 (GRCm39)	T1261A	probably damaging	Het
Fzd6	A	T	15: 38,894,503 (GRCm39)	D223V	probably damaging	Het
Gabra2	A	T	5: 71,165,315 (GRCm39)	Y218*	probably null	Het
Gcn1	G	T	5: 115,752,527 (GRCm39)	M2177I	probably benign	Het
Ghr	G	A	15: 3,370,556 (GRCm39)	T103I	possibly damaging	Het
Gipc1	T	C	8: 84,387,857 (GRCm39)	V79A	probably benign	Het
Gm13272	T	A	4: 88,698,577 (GRCm39)	V164D	probably damaging	Het
Gramd4	C	A	15: 86,016,159 (GRCm39)	H503Q	probably benign	Het
Gstm4	A	T	3: 107,951,987 (GRCm39)	M1K	probably null	Het
Heatr5b	T	A	17: 79,067,988 (GRCm39)	Q1800L	probably benign	Het
Hectd1	T	A	12: 51,836,978 (GRCm39)	K826*	probably null	Het
Hoxa9	T	C	6: 52,201,289 (GRCm39)	I251V	possibly damaging	Het
Il2ra	A	T	2: 11,679,177 (GRCm39)	I46F	possibly damaging	Het
Ints2	T	A	11: 86,135,453 (GRCm39)	R320S	probably benign	Het
Iscu	A	T	5: 113,912,343 (GRCm39)	N46I	probably damaging	Het
Iscu	G	A	5: 113,912,410 (GRCm39)	R60Q	unknown	Het
Kcnk3	A	T	5: 30,745,875 (GRCm39)	H72L	probably damaging	Het
Kmt2a	T	G	9: 44,754,157 (GRCm39)	S1228R	unknown	Het
Mbl2	T	A	19: 30,216,638 (GRCm39)	L150Q	probably damaging	Het
Med13	A	T	11: 86,161,831 (GRCm39)	F2166Y	probably damaging	Het
Mterf4	A	C	1: 93,229,275 (GRCm39)	L246*	probably null	Het
Muc16	T	C	9: 18,496,121 (GRCm39)	Q6690R	probably benign	Het
Myh10	T	A	11: 68,699,719 (GRCm39)	L1722Q	possibly damaging	Het
Neurod2	T	C	11: 98,218,454 (GRCm39)	M237V	probably benign	Het
Olfml1	A	G	7: 107,170,356 (GRCm39)	Y81C	probably damaging	Het
Or4q3	A	G	14: 50,583,872 (GRCm39)	V9A	probably benign	Het
Pcdhga7	A	T	18: 37,849,226 (GRCm39)	N411I	probably benign	Het
Pcdhgb8	T	C	18: 37,897,002 (GRCm39)	F691L	probably benign	Het
Pik3c2a	A	G	7: 115,990,517 (GRCm39)	V481A	probably damaging	Het
Pik3r6	A	T	11: 68,424,701 (GRCm39)	R435S	probably benign	Het
Pkd1l1	G	A	11: 8,799,013 (GRCm39)	H2250Y		Het
Pkd1l1	A	G	11: 8,859,857 (GRCm39)	S1034P		Het
Plcd1	C	A	9: 118,903,720 (GRCm39)	R400L	possibly damaging	Het
Ppp2r1a	A	G	17: 21,174,879 (GRCm39)	T58A	probably benign	Het
Ppp5c	T	C	7: 16,761,725 (GRCm39)	E5G	possibly damaging	Het
Pradc1	A	C	6: 85,424,950 (GRCm39)	F82L	probably benign	Het
Prkag3	A	T	1: 74,780,416 (GRCm39)	S416R	probably benign	Het
Rab3gap2	T	C	1: 184,982,117 (GRCm39)	C390R	probably benign	Het
Rhot1	A	G	11: 80,156,629 (GRCm39)	T655A	probably benign	Het
Rorc	A	G	3: 94,298,495 (GRCm39)	I348V	probably damaging	Het
Ryr1	A	T	7: 28,796,649 (GRCm39)	V1051E	probably benign	Het
Sema5b	GCAC	GC	16: 35,478,626 (GRCm39)		probably null	Het
Serpinb3c	G	A	1: 107,199,744 (GRCm39)	T259I	probably damaging	Het
Sh3gl1	A	T	17: 56,326,438 (GRCm39)	M70K	probably damaging	Het
Sinhcaf	T	A	6: 148,827,644 (GRCm39)	T125S	probably benign	Het
Slc7a4	C	T	16: 17,391,230 (GRCm39)	V607I	probably benign	Het
Spop	A	T	11: 95,362,154 (GRCm39)	N62Y	probably damaging	Het
Spout1	A	G	2: 30,066,823 (GRCm39)	F130S	probably benign	Het
Tab1	A	G	15: 80,043,066 (GRCm39)	H420R	possibly damaging	Het
Tnxb	G	C	17: 34,933,577 (GRCm39)	K2332N	probably damaging	Het
Togaram1	T	C	12: 65,014,512 (GRCm39)	Y588H	probably damaging	Het
Trim71	G	A	9: 114,342,153 (GRCm39)	R710C	probably damaging	Het
Tsen54	C	T	11: 115,711,608 (GRCm39)	Q342*	probably null	Het
Ube2r2	T	A	4: 41,190,812 (GRCm39)	N235K	unknown	Het
Utrn	C	A	10: 12,543,271 (GRCm39)	K1792N	possibly damaging	Het
Vmn1r122	A	G	7: 20,867,587 (GRCm39)	I156T	possibly damaging	Het
Vmn1r94	T	C	7: 19,901,636 (GRCm39)	T223A	possibly damaging	Het
Vmn2r120	G	A	17: 57,831,683 (GRCm39)	R369W	probably damaging	Het
Vwa7	G	T	17: 35,243,409 (GRCm39)	A717S	possibly damaging	Het
Zc3h4	T	A	7: 16,159,647 (GRCm39)	C398S	unknown	Het
Zc3hc1	T	A	6: 30,390,874 (GRCm39)	E43V	possibly damaging	Het
Zfp101	A	T	17: 33,600,511 (GRCm39)	V415D	possibly damaging	Het
Zfp553	A	G	7: 126,835,768 (GRCm39)	H441R	probably 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
R1982:Tecpr2	UTSW	12	110,921,219 (GRCm39)	missense	probably benign	0.07
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
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'- TCCATTTCACTGGACATTGTTG -3'
(R):5'- AGGACCACTGTTTTCCTGTGAG -3'

Sequencing Primer
(F):5'- GGAACTTACTGTGTAGCTCAGACC -3'
(R):5'- GTGAGATTCCATTCACCTCACC -3'

Posted On

2020-09-15