Incidental Mutation 'R8393:Tecpr2'
| ID |
647482 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tecpr2
|
| Ensembl Gene |
ENSMUSG00000021275 |
| Gene Name |
tectonin beta-propeller repeat containing 2 |
| Synonyms |
4930573I19Rik |
| MMRRC Submission |
067811-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8393 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
110855698-110938828 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 110911191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 1076
(D1076V)
|
| 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: D1076V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000127949
Gene: ENSMUSG00000021275
AA Change: D1076V
| 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: D1076V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126749
Gene: ENSMUSG00000021275
AA Change: D1076V
| 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 |
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
T |
C |
4: 106,617,390 (GRCm39) |
T239A |
probably benign |
Het |
| Adgrg7 |
A |
G |
16: 56,582,477 (GRCm39) |
S258P |
probably damaging |
Het |
| Capn10 |
T |
A |
1: 92,871,130 (GRCm39) |
D313E |
probably benign |
Het |
| Caprin2 |
A |
G |
6: 148,770,650 (GRCm39) |
V448A |
probably benign |
Het |
| Casr |
A |
G |
16: 36,330,566 (GRCm39) |
V256A |
probably benign |
Het |
| Cped1 |
A |
G |
6: 22,222,465 (GRCm39) |
T742A |
possibly damaging |
Het |
| Cyp2c39 |
G |
T |
19: 39,525,255 (GRCm39) |
R186L |
possibly damaging |
Het |
| Dazl |
A |
T |
17: 50,588,294 (GRCm39) |
S294T |
probably benign |
Het |
| Dnah17 |
C |
A |
11: 117,947,855 (GRCm39) |
V2982F |
probably damaging |
Het |
| Enpp3 |
C |
A |
10: 24,702,139 (GRCm39) |
C71F |
probably damaging |
Het |
| Fam234a |
A |
G |
17: 26,437,149 (GRCm39) |
C177R |
probably damaging |
Het |
| Fbxl5 |
A |
C |
5: 43,925,433 (GRCm39) |
Y186D |
possibly damaging |
Het |
| Fbxo43 |
T |
C |
15: 36,162,494 (GRCm39) |
T238A |
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,806,815 (GRCm39) |
H2261R |
probably benign |
Het |
| Gm20939 |
C |
T |
17: 95,183,207 (GRCm39) |
H148Y |
probably damaging |
Het |
| Gpat4 |
GTGTT |
GT |
8: 23,669,498 (GRCm39) |
|
probably benign |
Het |
| Gpr45 |
C |
A |
1: 43,071,395 (GRCm39) |
H13N |
probably benign |
Het |
| Irf4 |
A |
G |
13: 30,947,610 (GRCm39) |
D438G |
probably damaging |
Het |
| Kcnk1 |
T |
C |
8: 126,751,964 (GRCm39) |
V190A |
probably benign |
Het |
| Klre1 |
A |
T |
6: 129,557,025 (GRCm39) |
K42N |
probably damaging |
Het |
| Lmbrd2 |
C |
T |
15: 9,178,437 (GRCm39) |
T499M |
probably damaging |
Het |
| Lrrc14 |
G |
T |
15: 76,598,398 (GRCm39) |
G345C |
probably damaging |
Het |
| Matn2 |
A |
G |
15: 34,355,748 (GRCm39) |
H251R |
possibly damaging |
Het |
| Mpnd |
A |
G |
17: 56,323,568 (GRCm39) |
E477G |
probably damaging |
Het |
| Muc17 |
C |
T |
5: 137,171,179 (GRCm39) |
V151I |
|
Het |
| Nckap5l |
A |
C |
15: 99,325,050 (GRCm39) |
C484W |
probably damaging |
Het |
| Npas1 |
C |
T |
7: 16,195,266 (GRCm39) |
S354N |
probably damaging |
Het |
| Or1e25 |
T |
C |
11: 73,494,261 (GRCm39) |
L285P |
probably damaging |
Het |
| Or4k2 |
C |
A |
14: 50,424,342 (GRCm39) |
E112* |
probably null |
Het |
| Or52ab2 |
A |
T |
7: 102,969,668 (GRCm39) |
I17F |
|
Het |
| Or52e3 |
T |
C |
7: 102,869,399 (GRCm39) |
V158A |
probably benign |
Het |
| Or5w11 |
T |
C |
2: 87,459,197 (GRCm39) |
L14P |
probably damaging |
Het |
| Or6c65 |
G |
T |
10: 129,604,304 (GRCm39) |
*313L |
probably null |
Het |
| Or8d4 |
T |
A |
9: 40,038,360 (GRCm39) |
H299L |
probably benign |
Het |
| Pabpc6 |
G |
A |
17: 9,887,435 (GRCm39) |
P372L |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,791,621 (GRCm39) |
N1103D |
probably damaging |
Het |
| Prelid2 |
C |
T |
18: 42,014,313 (GRCm39) |
C171Y |
probably benign |
Het |
| R3hcc1 |
T |
C |
14: 69,942,890 (GRCm39) |
Q229R |
probably benign |
Het |
| Rapgef6 |
T |
C |
11: 54,578,487 (GRCm39) |
V1003A |
probably benign |
Het |
| Rbp3 |
T |
A |
14: 33,678,156 (GRCm39) |
H701Q |
possibly damaging |
Het |
| Resf1 |
A |
T |
6: 149,229,998 (GRCm39) |
T1015S |
possibly damaging |
Het |
| Rmdn2 |
T |
C |
17: 79,975,459 (GRCm39) |
|
probably null |
Het |
| Robo2 |
A |
T |
16: 73,775,382 (GRCm39) |
W451R |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,410,655 (GRCm39) |
M1K |
probably null |
Het |
| Senp2 |
G |
A |
16: 21,850,864 (GRCm39) |
G294R |
probably damaging |
Het |
| Setdb2 |
T |
A |
14: 59,650,180 (GRCm39) |
H478L |
probably benign |
Het |
| Slc12a4 |
G |
T |
8: 106,678,451 (GRCm39) |
A295E |
probably damaging |
Het |
| Slc12a9 |
C |
T |
5: 137,319,698 (GRCm39) |
V606M |
probably damaging |
Het |
| Slc25a30 |
T |
C |
14: 76,012,451 (GRCm39) |
K66E |
probably benign |
Het |
| Slc39a6 |
T |
C |
18: 24,732,331 (GRCm39) |
E319G |
possibly damaging |
Het |
| Sorbs3 |
T |
A |
14: 70,422,360 (GRCm39) |
T617S |
probably benign |
Het |
| Speer4a3 |
A |
T |
5: 26,158,076 (GRCm39) |
V92E |
probably damaging |
Het |
| Spef2 |
T |
G |
15: 9,676,615 (GRCm39) |
D652A |
probably benign |
Het |
| Stag3 |
T |
C |
5: 138,295,017 (GRCm39) |
M347T |
probably damaging |
Het |
| Tor2a |
G |
A |
2: 32,651,648 (GRCm39) |
V288I |
probably benign |
Het |
| Usp30 |
C |
T |
5: 114,259,826 (GRCm39) |
R511* |
probably null |
Het |
| Vezt |
T |
C |
10: 93,832,704 (GRCm39) |
T236A |
probably damaging |
Het |
| Zmynd12 |
A |
T |
4: 119,305,352 (GRCm39) |
D264V |
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 |
|
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 |
|
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'- CCCAGGGACATAATACAGCTGC -3'
(R):5'- GGTTAGAATCCCACCACCATG -3'
Sequencing Primer
(F):5'- GGGACATAATACAGCTGCTTATTAG -3'
(R):5'- GAATCCCACCACCATGAAAAATAAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation