Incidental Mutation 'R4072:Tm2d3'
| ID |
316340 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tm2d3
|
| Ensembl Gene |
ENSMUSG00000078681 |
| Gene Name |
TM2 domain containing 3 |
| Synonyms |
5930422O05Rik, 1110025I09Rik |
| MMRRC Submission |
040854-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4072 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
65343204-65351650 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 65347498 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 49
(L49*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145545
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032726]
[ENSMUST00000065574]
[ENSMUST00000107495]
[ENSMUST00000129166]
[ENSMUST00000143508]
[ENSMUST00000206517]
[ENSMUST00000206934]
[ENSMUST00000206628]
|
| AlphaFold |
Q8BJ83 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032726
AA Change: C111S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032726
Gene: ENSMUSG00000078681
AA Change: C111S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
22 |
N/A |
INTRINSIC |
|
Pfam:TM2
|
165 |
214 |
5.1e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065574
AA Change: C142S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064967
Gene: ENSMUSG00000078681
AA Change: C142S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
22 |
N/A |
INTRINSIC |
|
Pfam:TM2
|
196 |
245 |
6.3e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107495
AA Change: C142S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103119
Gene: ENSMUSG00000078681
AA Change: C142S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
22 |
N/A |
INTRINSIC |
|
Pfam:TM2
|
196 |
245 |
5e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129166
AA Change: C142S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143508
|
| SMART Domains |
Protein: ENSMUSP00000116848
Gene: ENSMUSG00000078681
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000206361
AA Change: C85S
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206517
AA Change: C133S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000206934
AA Change: L49*
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206628
AA Change: C113S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206837
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
98% (52/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or proliferation signal cascades. Several alternatively spliced transcript variants of this gene are described but the full length nature of some variants has not been determined. Multiple polyadenylation sites have been found in this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
G |
6: 91,922,342 (GRCm39) |
|
probably null |
Het |
| Abcc5 |
A |
G |
16: 20,152,445 (GRCm39) |
I1367T |
probably damaging |
Het |
| Acsm4 |
T |
A |
7: 119,297,981 (GRCm39) |
L206H |
probably benign |
Het |
| Acss3 |
C |
T |
10: 106,959,446 (GRCm39) |
|
probably benign |
Het |
| Adam34l |
A |
T |
8: 44,079,387 (GRCm39) |
F279Y |
probably damaging |
Het |
| Ankar |
G |
T |
1: 72,727,751 (GRCm39) |
D169E |
probably damaging |
Het |
| Arfgap3 |
C |
T |
15: 83,187,330 (GRCm39) |
A510T |
probably damaging |
Het |
| Atp4a |
T |
C |
7: 30,414,757 (GRCm39) |
I182T |
probably benign |
Het |
| Axl |
A |
G |
7: 25,463,336 (GRCm39) |
|
probably benign |
Het |
| Baz1a |
A |
G |
12: 54,988,345 (GRCm39) |
I268T |
probably benign |
Het |
| Baz2b |
A |
T |
2: 59,742,917 (GRCm39) |
|
probably null |
Het |
| C2cd4d |
C |
A |
3: 94,271,185 (GRCm39) |
C150* |
probably null |
Het |
| Crtac1 |
T |
C |
19: 42,293,146 (GRCm39) |
Y321C |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,070,227 (GRCm39) |
H1526R |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,340,444 (GRCm39) |
R2284* |
probably null |
Het |
| Dnah9 |
T |
C |
11: 65,975,730 (GRCm39) |
T1440A |
probably benign |
Het |
| Eps15l1 |
A |
G |
8: 73,134,128 (GRCm39) |
I482T |
probably damaging |
Het |
| Eqtn |
A |
G |
4: 94,808,199 (GRCm39) |
I201T |
possibly damaging |
Het |
| Ercc4 |
G |
A |
16: 12,948,549 (GRCm39) |
V499I |
probably damaging |
Het |
| Eva1c |
T |
A |
16: 90,701,019 (GRCm39) |
F331Y |
probably damaging |
Het |
| Fcho1 |
T |
C |
8: 72,163,013 (GRCm39) |
H672R |
probably damaging |
Het |
| Galntl5 |
A |
T |
5: 25,403,478 (GRCm39) |
K150* |
probably null |
Het |
| Gm19965 |
A |
G |
1: 116,748,801 (GRCm39) |
T161A |
probably benign |
Het |
| Hydin |
G |
A |
8: 111,231,888 (GRCm39) |
E1617K |
possibly damaging |
Het |
| Krtap31-1 |
T |
C |
11: 99,799,058 (GRCm39) |
I87T |
possibly damaging |
Het |
| Lamp3 |
A |
G |
16: 19,519,466 (GRCm39) |
L239P |
possibly damaging |
Het |
| Nlrp4c |
A |
G |
7: 6,075,709 (GRCm39) |
K667E |
probably benign |
Het |
| Obox3 |
G |
T |
7: 15,359,724 (GRCm39) |
T315N |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,888,009 (GRCm39) |
I7652T |
unknown |
Het |
| Or52e18 |
A |
T |
7: 104,609,923 (GRCm39) |
N5K |
probably damaging |
Het |
| Or5b3 |
G |
A |
19: 13,388,299 (GRCm39) |
R122H |
possibly damaging |
Het |
| Or8u8 |
T |
A |
2: 86,011,991 (GRCm39) |
M155L |
probably benign |
Het |
| Pde7a |
G |
A |
3: 19,311,017 (GRCm39) |
R70C |
probably damaging |
Het |
| Pidd1 |
A |
G |
7: 141,020,739 (GRCm39) |
F453L |
probably damaging |
Het |
| Pms2 |
T |
C |
5: 143,865,819 (GRCm39) |
I742T |
probably damaging |
Het |
| Pot1a |
T |
C |
6: 25,752,356 (GRCm39) |
|
probably null |
Het |
| Pramel33 |
A |
T |
5: 93,633,057 (GRCm39) |
M50K |
probably damaging |
Het |
| Rp1l1 |
A |
T |
14: 64,265,581 (GRCm39) |
E389V |
probably damaging |
Het |
| Scnn1a |
A |
G |
6: 125,315,870 (GRCm39) |
N407S |
probably damaging |
Het |
| Slc30a7 |
T |
C |
3: 115,740,329 (GRCm39) |
D374G |
probably damaging |
Het |
| Slco2a1 |
T |
A |
9: 102,945,201 (GRCm39) |
I192N |
probably damaging |
Het |
| Srp72 |
C |
A |
5: 77,146,098 (GRCm39) |
T633K |
probably benign |
Het |
| Tmprss11e |
T |
C |
5: 86,863,502 (GRCm39) |
T188A |
possibly damaging |
Het |
| Tox |
T |
C |
4: 6,842,396 (GRCm39) |
T45A |
probably damaging |
Het |
| Usp31 |
A |
G |
7: 121,267,005 (GRCm39) |
|
probably null |
Het |
| Vwc2 |
T |
A |
11: 11,066,446 (GRCm39) |
L178Q |
probably damaging |
Het |
| Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
| Zbtb11 |
C |
T |
16: 55,818,427 (GRCm39) |
T617I |
possibly damaging |
Het |
|
| Other mutations in Tm2d3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01338:Tm2d3
|
APN |
7 |
65,344,970 (GRCm39) |
nonsense |
probably null |
|
|
IGL02312:Tm2d3
|
APN |
7 |
65,348,917 (GRCm39) |
critical splice donor site |
probably null |
|
|
topple
|
UTSW |
7 |
65,348,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0115:Tm2d3
|
UTSW |
7 |
65,345,082 (GRCm39) |
intron |
probably benign |
|
|
R0265:Tm2d3
|
UTSW |
7 |
65,347,582 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2143:Tm2d3
|
UTSW |
7 |
65,344,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4074:Tm2d3
|
UTSW |
7 |
65,347,498 (GRCm39) |
nonsense |
probably null |
|
|
R4075:Tm2d3
|
UTSW |
7 |
65,347,498 (GRCm39) |
nonsense |
probably null |
|
|
R4076:Tm2d3
|
UTSW |
7 |
65,347,498 (GRCm39) |
nonsense |
probably null |
|
|
R4351:Tm2d3
|
UTSW |
7 |
65,344,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4966:Tm2d3
|
UTSW |
7 |
65,347,469 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5381:Tm2d3
|
UTSW |
7 |
65,351,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5571:Tm2d3
|
UTSW |
7 |
65,348,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5621:Tm2d3
|
UTSW |
7 |
65,351,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6819:Tm2d3
|
UTSW |
7 |
65,347,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7168:Tm2d3
|
UTSW |
7 |
65,343,674 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGATGCTACATACGAGCCTTC -3'
(R):5'- CCAAGGGTCTTTCTGAGAACTG -3'
Sequencing Primer
(F):5'- ACGAGCCTTCTTCCTATATGAACTG -3'
(R):5'- CTCAAGTGTGGCTAAGGGCTC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation