Incidental Mutation 'R6812:Tmtc2'
| ID |
533859 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmtc2
|
| Ensembl Gene |
ENSMUSG00000036019 |
| Gene Name |
transmembrane and tetratricopeptide repeat containing 2 |
| Synonyms |
8430438D04Rik, D330034A10Rik |
| MMRRC Submission |
044924-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R6812 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
105023524-105410312 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105249130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 201
(V201A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061919
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061506]
|
| AlphaFold |
Q56A06 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061506
AA Change: V201A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000061919
Gene: ENSMUSG00000036019
AA Change: V201A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
223 |
245 |
N/A |
INTRINSIC |
|
Pfam:DUF1736
|
247 |
321 |
7.3e-33 |
PFAM |
|
transmembrane domain
|
393 |
415 |
N/A |
INTRINSIC |
|
transmembrane domain
|
425 |
444 |
N/A |
INTRINSIC |
|
TPR
|
493 |
526 |
1.6e-3 |
SMART |
|
TPR
|
527 |
560 |
6.84e-3 |
SMART |
|
TPR
|
561 |
594 |
2.52e-1 |
SMART |
|
TPR
|
606 |
639 |
3.12e-6 |
SMART |
|
TPR
|
643 |
676 |
3.99e1 |
SMART |
|
TPR
|
677 |
710 |
7.12e-1 |
SMART |
|
low complexity region
|
729 |
739 |
N/A |
INTRINSIC |
|
TPR
|
745 |
778 |
1.51e1 |
SMART |
|
TPR
|
779 |
812 |
1.43e-5 |
SMART |
|
| Meta Mutation Damage Score |
0.0699 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 97.4%
|
| Validation Efficiency |
100% (56/56) |
| 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 an integral membrane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for being involved in protein-protein interactions. This protein binds both the calcium uptake pump SERCA2B and the carbohydrate-binding chaperone calnexin, and it appears to play a role in calcium homeostasis in the ER. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
C |
T |
16: 56,616,161 (GRCm39) |
|
probably benign |
Het |
| Ak9 |
A |
T |
10: 41,243,163 (GRCm39) |
M686L |
unknown |
Het |
| Ap3b1 |
A |
T |
13: 94,616,369 (GRCm39) |
T757S |
unknown |
Het |
| Apob |
A |
T |
12: 8,033,062 (GRCm39) |
K139N |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,094,037 (GRCm39) |
E270G |
possibly damaging |
Het |
| Atp1a2 |
A |
T |
1: 172,112,444 (GRCm39) |
C515S |
probably benign |
Het |
| Bicd1 |
T |
C |
6: 149,311,035 (GRCm39) |
Y37H |
probably damaging |
Het |
| Birc2 |
T |
G |
9: 7,854,418 (GRCm39) |
D424A |
probably damaging |
Het |
| Ccdc97 |
A |
T |
7: 25,412,469 (GRCm39) |
F324L |
probably damaging |
Het |
| Crim1 |
T |
A |
17: 78,623,029 (GRCm39) |
I409N |
probably damaging |
Het |
| Cul7 |
T |
A |
17: 46,972,335 (GRCm39) |
I1233N |
probably benign |
Het |
| Dcaf1 |
T |
C |
9: 106,735,268 (GRCm39) |
S739P |
probably damaging |
Het |
| Ddb1 |
T |
C |
19: 10,599,863 (GRCm39) |
|
probably null |
Het |
| Dennd5b |
T |
C |
6: 148,982,630 (GRCm39) |
|
probably benign |
Het |
| Dna2 |
A |
G |
10: 62,795,120 (GRCm39) |
S464G |
probably benign |
Het |
| Dnah9 |
C |
T |
11: 65,872,155 (GRCm39) |
V2692M |
probably damaging |
Het |
| Dvl2 |
T |
C |
11: 69,891,821 (GRCm39) |
Y55H |
probably damaging |
Het |
| Eif4g3 |
G |
T |
4: 137,830,687 (GRCm39) |
Q140H |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,467 (GRCm39) |
V460M |
probably benign |
Het |
| Etv2 |
G |
T |
7: 30,333,426 (GRCm39) |
C265* |
probably null |
Het |
| F12 |
T |
C |
13: 55,569,658 (GRCm39) |
E146G |
probably damaging |
Het |
| Fdps |
C |
A |
3: 89,001,783 (GRCm39) |
E301D |
possibly damaging |
Het |
| Fsd2 |
G |
T |
7: 81,184,837 (GRCm39) |
H686Q |
probably benign |
Het |
| Gk5 |
T |
C |
9: 96,032,802 (GRCm39) |
S262P |
probably damaging |
Het |
| Gm20730 |
A |
G |
6: 43,058,722 (GRCm39) |
V30A |
probably benign |
Het |
| Gpr68 |
C |
A |
12: 100,844,670 (GRCm39) |
E291D |
probably damaging |
Het |
| Gucy2c |
A |
G |
6: 136,674,993 (GRCm39) |
V1006A |
probably benign |
Het |
| Itgb1 |
T |
A |
8: 129,431,891 (GRCm39) |
|
probably null |
Het |
| Kif2a |
A |
T |
13: 107,106,259 (GRCm39) |
D570E |
probably benign |
Het |
| Krt8 |
G |
T |
15: 101,906,414 (GRCm39) |
A365D |
probably damaging |
Het |
| Lias |
T |
A |
5: 65,566,132 (GRCm39) |
V373E |
possibly damaging |
Het |
| Mpl |
A |
G |
4: 118,312,461 (GRCm39) |
V169A |
probably benign |
Het |
| Myh3 |
T |
A |
11: 66,977,228 (GRCm39) |
I319N |
probably damaging |
Het |
| Myrfl |
T |
A |
10: 116,668,818 (GRCm39) |
K315I |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,340,108 (GRCm39) |
D803G |
probably damaging |
Het |
| Obi1 |
A |
G |
14: 104,747,868 (GRCm39) |
V40A |
unknown |
Het |
| Or5b119 |
T |
C |
19: 13,456,975 (GRCm39) |
T196A |
probably benign |
Het |
| Pald1 |
A |
G |
10: 61,178,701 (GRCm39) |
S536P |
possibly damaging |
Het |
| Phka2 |
G |
A |
X: 159,316,044 (GRCm39) |
V230I |
probably damaging |
Het |
| Prkaa2 |
T |
A |
4: 104,904,349 (GRCm39) |
T243S |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,103,153 (GRCm39) |
V877D |
probably benign |
Het |
| Rbm27 |
T |
A |
18: 42,466,468 (GRCm39) |
|
probably null |
Het |
| Rbm48 |
A |
G |
5: 3,646,105 (GRCm39) |
V33A |
probably benign |
Het |
| Rev3l |
G |
T |
10: 39,699,544 (GRCm39) |
R1347L |
probably benign |
Het |
| Rtp3 |
A |
G |
9: 110,816,180 (GRCm39) |
F124L |
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,777,251 (GRCm39) |
G302D |
probably damaging |
Het |
| Scnn1a |
A |
G |
6: 125,314,819 (GRCm39) |
N314S |
probably benign |
Het |
| Sik3 |
C |
T |
9: 46,122,067 (GRCm39) |
R907W |
probably damaging |
Het |
| Sox5 |
C |
T |
6: 144,062,169 (GRCm39) |
|
probably null |
Het |
| Tmc1 |
A |
C |
19: 20,878,225 (GRCm39) |
L90R |
probably damaging |
Het |
| Uvrag |
T |
A |
7: 98,537,689 (GRCm39) |
H502L |
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,434,859 (GRCm39) |
I1760N |
probably damaging |
Het |
| Zfp318 |
G |
GAAGAAT |
17: 46,723,468 (GRCm39) |
|
probably benign |
Het |
| Zfp772 |
T |
C |
7: 7,209,307 (GRCm39) |
D61G |
possibly damaging |
Het |
|
| Other mutations in Tmtc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00571:Tmtc2
|
APN |
10 |
105,157,307 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01284:Tmtc2
|
APN |
10 |
105,107,372 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL01317:Tmtc2
|
APN |
10 |
105,249,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01327:Tmtc2
|
APN |
10 |
105,184,340 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01637:Tmtc2
|
APN |
10 |
105,205,946 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02176:Tmtc2
|
APN |
10 |
105,184,354 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02354:Tmtc2
|
APN |
10 |
105,107,387 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02361:Tmtc2
|
APN |
10 |
105,107,387 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02514:Tmtc2
|
APN |
10 |
105,025,960 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02540:Tmtc2
|
APN |
10 |
105,249,200 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL02625:Tmtc2
|
APN |
10 |
105,206,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02938:Tmtc2
|
APN |
10 |
105,249,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02939:Tmtc2
|
APN |
10 |
105,206,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03388:Tmtc2
|
APN |
10 |
105,157,344 (GRCm39) |
splice site |
probably benign |
|
|
PIT4402001:Tmtc2
|
UTSW |
10 |
105,249,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4449001:Tmtc2
|
UTSW |
10 |
105,139,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1424:Tmtc2
|
UTSW |
10 |
105,249,229 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1462:Tmtc2
|
UTSW |
10 |
105,409,566 (GRCm39) |
nonsense |
probably null |
|
|
R1462:Tmtc2
|
UTSW |
10 |
105,409,566 (GRCm39) |
nonsense |
probably null |
|
|
R1529:Tmtc2
|
UTSW |
10 |
105,139,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1903:Tmtc2
|
UTSW |
10 |
105,025,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2225:Tmtc2
|
UTSW |
10 |
105,206,218 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4280:Tmtc2
|
UTSW |
10 |
105,184,294 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4602:Tmtc2
|
UTSW |
10 |
105,249,391 (GRCm39) |
missense |
probably benign |
|
|
R4603:Tmtc2
|
UTSW |
10 |
105,249,391 (GRCm39) |
missense |
probably benign |
|
|
R4624:Tmtc2
|
UTSW |
10 |
105,139,511 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4625:Tmtc2
|
UTSW |
10 |
105,139,511 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4628:Tmtc2
|
UTSW |
10 |
105,139,511 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4629:Tmtc2
|
UTSW |
10 |
105,139,511 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5192:Tmtc2
|
UTSW |
10 |
105,026,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5769:Tmtc2
|
UTSW |
10 |
105,205,907 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5846:Tmtc2
|
UTSW |
10 |
105,107,302 (GRCm39) |
intron |
probably benign |
|
|
R5892:Tmtc2
|
UTSW |
10 |
105,249,366 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5897:Tmtc2
|
UTSW |
10 |
105,249,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6362:Tmtc2
|
UTSW |
10 |
105,205,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6391:Tmtc2
|
UTSW |
10 |
105,409,551 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6640:Tmtc2
|
UTSW |
10 |
105,409,610 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
|
R6975:Tmtc2
|
UTSW |
10 |
105,158,863 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7042:Tmtc2
|
UTSW |
10 |
105,206,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7063:Tmtc2
|
UTSW |
10 |
105,184,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7211:Tmtc2
|
UTSW |
10 |
105,409,587 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7288:Tmtc2
|
UTSW |
10 |
105,249,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7576:Tmtc2
|
UTSW |
10 |
105,206,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7728:Tmtc2
|
UTSW |
10 |
105,107,358 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7850:Tmtc2
|
UTSW |
10 |
105,409,568 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8024:Tmtc2
|
UTSW |
10 |
105,025,987 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8417:Tmtc2
|
UTSW |
10 |
105,249,097 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8697:Tmtc2
|
UTSW |
10 |
105,205,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8913:Tmtc2
|
UTSW |
10 |
105,158,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9409:Tmtc2
|
UTSW |
10 |
105,159,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9782:Tmtc2
|
UTSW |
10 |
105,026,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Tmtc2
|
UTSW |
10 |
105,139,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGACTACTCGTTTTAAATTCTGC -3'
(R):5'- CCTTCATGGCTGGCTTGATG -3'
Sequencing Primer
(F):5'- CTGCTTGAAGAAGAACAAATCTGTC -3'
(R):5'- CAGATGTGGGCGCTAGTCTC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation