Incidental Mutation 'R3754:Tm2d2'
| ID |
271353 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tm2d2
|
| Ensembl Gene |
ENSMUSG00000031556 |
| Gene Name |
TM2 domain containing 2 |
| Synonyms |
2410018G23Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3754 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
25507227-25513276 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 25510494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 118
(V118I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033961
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033961]
[ENSMUST00000084031]
[ENSMUST00000084032]
[ENSMUST00000084035]
[ENSMUST00000207132]
[ENSMUST00000208247]
[ENSMUST00000210536]
[ENSMUST00000210758]
|
| AlphaFold |
Q8R0I4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033961
AA Change: V118I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000033961
Gene: ENSMUSG00000031556
AA Change: V118I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
Pfam:TM2
|
145 |
194 |
1.7e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084031
|
| SMART Domains |
Protein: ENSMUSP00000081044
Gene: ENSMUSG00000037406
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
IB
|
37 |
112 |
5.44e-7 |
SMART |
|
KAZAL
|
109 |
158 |
7.92e-4 |
SMART |
|
Pfam:Trypsin
|
182 |
368 |
5.5e-15 |
PFAM |
|
Pfam:Trypsin_2
|
208 |
346 |
2.1e-34 |
PFAM |
|
PDZ
|
385 |
470 |
5.34e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084032
|
| SMART Domains |
Protein: ENSMUSP00000081045
Gene: ENSMUSG00000031555
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
43 |
163 |
8.5e-36 |
PFAM |
|
Pfam:Reprolysin_5
|
210 |
386 |
5.5e-20 |
PFAM |
|
Pfam:Reprolysin_4
|
210 |
402 |
1.4e-11 |
PFAM |
|
Pfam:Reprolysin
|
212 |
406 |
1e-67 |
PFAM |
|
Pfam:Reprolysin_2
|
232 |
396 |
1.1e-12 |
PFAM |
|
Pfam:Reprolysin_3
|
236 |
358 |
8.1e-19 |
PFAM |
|
DISIN
|
423 |
499 |
8.7e-44 |
SMART |
|
ACR
|
500 |
637 |
9.7e-75 |
SMART |
|
EGF
|
643 |
674 |
9.9e-2 |
SMART |
|
transmembrane domain
|
699 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
753 |
787 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084035
|
| SMART Domains |
Protein: ENSMUSP00000081048
Gene: ENSMUSG00000031555
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
34 |
163 |
8.1e-31 |
PFAM |
|
Pfam:Reprolysin_5
|
210 |
386 |
5.8e-22 |
PFAM |
|
Pfam:Reprolysin_4
|
210 |
402 |
1.6e-13 |
PFAM |
|
Pfam:Reprolysin
|
212 |
406 |
1.9e-73 |
PFAM |
|
Pfam:Reprolysin_2
|
232 |
396 |
9.4e-15 |
PFAM |
|
Pfam:Reprolysin_3
|
236 |
358 |
3.4e-19 |
PFAM |
|
DISIN
|
423 |
499 |
1.71e-41 |
SMART |
|
ACR
|
500 |
637 |
2.86e-72 |
SMART |
|
EGF
|
643 |
674 |
2.03e1 |
SMART |
|
transmembrane domain
|
699 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
753 |
794 |
N/A |
INTRINSIC |
|
low complexity region
|
808 |
826 |
N/A |
INTRINSIC |
|
low complexity region
|
831 |
839 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207132
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208247
|
| Predicted Effect |
silent
Transcript: ENSMUST00000210536
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210758
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.1%
|
| 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 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. This gene has multiple alternatively spliced transcript variants which encode two different isoforms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap3 |
T |
C |
4: 135,956,766 (GRCm39) |
|
probably null |
Het |
| Atp12a |
G |
A |
14: 56,610,045 (GRCm39) |
V182I |
probably benign |
Het |
| Gad2 |
A |
T |
2: 22,571,352 (GRCm39) |
D430V |
possibly damaging |
Het |
| Hr |
A |
G |
14: 70,805,264 (GRCm39) |
E1002G |
probably damaging |
Het |
| Itpkc |
G |
T |
7: 26,927,857 (GRCm39) |
P19Q |
probably damaging |
Het |
| Lrrc72 |
A |
G |
12: 36,262,567 (GRCm39) |
S42P |
probably benign |
Het |
| Med1 |
A |
G |
11: 98,057,548 (GRCm39) |
V318A |
possibly damaging |
Het |
| Myef2l |
G |
A |
3: 10,153,575 (GRCm39) |
V115I |
possibly damaging |
Het |
| Nek11 |
A |
T |
9: 105,191,917 (GRCm39) |
N164K |
probably damaging |
Het |
| Neurod2 |
A |
G |
11: 98,218,526 (GRCm39) |
S213P |
probably damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,391,782 (GRCm39) |
N179D |
probably damaging |
Het |
| Nr2f2 |
T |
C |
7: 70,007,769 (GRCm39) |
I238V |
probably benign |
Het |
| Rpl37 |
C |
A |
15: 5,146,770 (GRCm39) |
T2K |
possibly damaging |
Het |
| Slf2 |
A |
G |
19: 44,961,676 (GRCm39) |
D1065G |
probably benign |
Het |
| Smim5 |
T |
C |
11: 115,796,549 (GRCm39) |
C57R |
probably damaging |
Het |
| Soat2 |
T |
A |
15: 102,065,513 (GRCm39) |
V236D |
probably damaging |
Het |
| Teddm3 |
C |
T |
16: 20,971,898 (GRCm39) |
D224N |
possibly damaging |
Het |
| Ttc22 |
C |
A |
4: 106,496,278 (GRCm39) |
R443S |
probably damaging |
Het |
| Upf1 |
A |
G |
8: 70,792,464 (GRCm39) |
I368T |
probably benign |
Het |
| Xrn1 |
G |
T |
9: 95,849,841 (GRCm39) |
D129Y |
probably damaging |
Het |
| Zfp109 |
A |
G |
7: 23,929,181 (GRCm39) |
M76T |
probably benign |
Het |
| Znrf1 |
G |
A |
8: 112,345,843 (GRCm39) |
V76M |
probably damaging |
Het |
|
| Other mutations in Tm2d2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01351:Tm2d2
|
APN |
8 |
25,510,573 (GRCm39) |
splice site |
probably benign |
|
|
IGL01768:Tm2d2
|
APN |
8 |
25,508,095 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02238:Tm2d2
|
APN |
8 |
25,512,787 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB003:Tm2d2
|
UTSW |
8 |
25,510,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB013:Tm2d2
|
UTSW |
8 |
25,510,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0420:Tm2d2
|
UTSW |
8 |
25,508,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0514:Tm2d2
|
UTSW |
8 |
25,512,742 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0608:Tm2d2
|
UTSW |
8 |
25,510,552 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2001:Tm2d2
|
UTSW |
8 |
25,507,523 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2141:Tm2d2
|
UTSW |
8 |
25,512,674 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5624:Tm2d2
|
UTSW |
8 |
25,512,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7651:Tm2d2
|
UTSW |
8 |
25,507,316 (GRCm39) |
start gained |
probably benign |
|
|
R7674:Tm2d2
|
UTSW |
8 |
25,508,280 (GRCm39) |
nonsense |
probably null |
|
|
R7926:Tm2d2
|
UTSW |
8 |
25,510,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8875:Tm2d2
|
UTSW |
8 |
25,507,443 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9211:Tm2d2
|
UTSW |
8 |
25,510,548 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAACATTCACTTAGGATGGACTAC -3'
(R):5'- ACTGGTACCTCTAGCCAAGC -3'
Sequencing Primer
(F):5'- CTACTAAGTCACTTGAAGCATCTCTG -3'
(R):5'- GCCCCTTTCAAAGTAACCCTTAG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation