Incidental Mutation 'IGL03242:Tulp2'
| ID |
414901 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tulp2
|
| Ensembl Gene |
ENSMUSG00000023467 |
| Gene Name |
tubby-like protein 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
IGL03242
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45131450-45173070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45171282 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 354
(I354M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024233]
[ENSMUST00000042105]
[ENSMUST00000051810]
[ENSMUST00000085331]
[ENSMUST00000107758]
[ENSMUST00000107759]
[ENSMUST00000107762]
[ENSMUST00000210813]
[ENSMUST00000210868]
[ENSMUST00000211212]
[ENSMUST00000210299]
[ENSMUST00000211227]
[ENSMUST00000167273]
|
| AlphaFold |
P46686 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024233
AA Change: I466M
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000024233
Gene: ENSMUSG00000023467
AA Change: I466M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
67 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
220 |
N/A |
INTRINSIC |
|
Pfam:Tub
|
315 |
556 |
1.1e-116 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042105
|
| SMART Domains |
Protein: ENSMUSP00000049488
Gene: ENSMUSG00000040435
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
225 |
234 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
245 |
333 |
1.03e-15 |
PROSPERO |
|
low complexity region
|
334 |
351 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
357 |
447 |
1.03e-15 |
PROSPERO |
|
low complexity region
|
448 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
520 |
530 |
N/A |
INTRINSIC |
|
Pfam:PP1c_bdg
|
536 |
612 |
8.2e-15 |
PFAM |
|
low complexity region
|
636 |
652 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051810
|
| SMART Domains |
Protein: ENSMUSP00000051468
Gene: ENSMUSG00000040428
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
27 |
N/A |
INTRINSIC |
|
PH
|
55 |
155 |
8.18e-19 |
SMART |
|
low complexity region
|
162 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
334 |
N/A |
INTRINSIC |
|
coiled coil region
|
376 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
519 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
608 |
628 |
N/A |
INTRINSIC |
|
low complexity region
|
649 |
659 |
N/A |
INTRINSIC |
|
low complexity region
|
706 |
719 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085331
AA Change: I342M
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000082438
Gene: ENSMUSG00000023467
AA Change: I342M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
88 |
96 |
N/A |
INTRINSIC |
|
Pfam:Tub
|
191 |
432 |
6.2e-117 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107758
AA Change: I361M
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103387
Gene: ENSMUSG00000023467
AA Change: I361M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
100 |
108 |
N/A |
INTRINSIC |
|
Pfam:Tub
|
203 |
451 |
4.1e-85 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107759
AA Change: I354M
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103388
Gene: ENSMUSG00000023467
AA Change: I354M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
100 |
108 |
N/A |
INTRINSIC |
|
Pfam:Tub
|
203 |
444 |
3.4e-117 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107762
AA Change: I466M
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103391
Gene: ENSMUSG00000023467
AA Change: I466M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tub_N
|
39 |
295 |
8.8e-36 |
PFAM |
|
Pfam:Tub
|
315 |
556 |
1.3e-85 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210813
AA Change: I361M
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210868
AA Change: I354M
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211212
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210299
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211227
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167273
|
| SMART Domains |
Protein: ENSMUSP00000128497
Gene: ENSMUSG00000040435
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
225 |
234 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
245 |
333 |
1.03e-15 |
PROSPERO |
|
low complexity region
|
334 |
351 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
357 |
447 |
1.03e-15 |
PROSPERO |
|
low complexity region
|
448 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
520 |
530 |
N/A |
INTRINSIC |
|
Pfam:PP1c_bdg
|
531 |
612 |
1.1e-20 |
PFAM |
|
low complexity region
|
636 |
652 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TULP2 is a member of a family of tubby-like genes (TULPs) that encode proteins of unknown function. Members of this family have been identified in plants, vertebrates, and invertebrates. The TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,667,189 (GRCm39) |
W221R |
unknown |
Het |
| Ank2 |
A |
G |
3: 126,722,454 (GRCm39) |
F1000L |
possibly damaging |
Het |
| Aoc1l2 |
T |
C |
6: 48,909,479 (GRCm39) |
F575L |
possibly damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,159,126 (GRCm39) |
|
probably benign |
Het |
| BC024139 |
T |
C |
15: 76,004,520 (GRCm39) |
M679V |
probably benign |
Het |
| Carmil2 |
A |
G |
8: 106,417,952 (GRCm39) |
|
probably benign |
Het |
| Catsperg2 |
A |
G |
7: 29,424,904 (GRCm39) |
|
probably benign |
Het |
| Chrnb4 |
A |
T |
9: 54,942,812 (GRCm39) |
I154K |
probably damaging |
Het |
| Clec2e |
A |
C |
6: 129,071,989 (GRCm39) |
L130W |
probably damaging |
Het |
| Coro2b |
G |
T |
9: 62,336,243 (GRCm39) |
Y281* |
probably null |
Het |
| Dlk2 |
A |
G |
17: 46,613,903 (GRCm39) |
Y386C |
probably benign |
Het |
| Dnah7a |
A |
T |
1: 53,659,882 (GRCm39) |
F709I |
probably benign |
Het |
| Efcab3 |
A |
C |
11: 104,997,230 (GRCm39) |
E140A |
probably damaging |
Het |
| Exoc1 |
T |
C |
5: 76,706,854 (GRCm39) |
L467P |
probably damaging |
Het |
| Fkbp2 |
A |
G |
19: 6,955,980 (GRCm39) |
V75A |
probably benign |
Het |
| Glud1 |
T |
C |
14: 34,056,237 (GRCm39) |
F304L |
probably benign |
Het |
| Gsr |
T |
A |
8: 34,175,627 (GRCm39) |
V291E |
probably benign |
Het |
| Itprid2 |
C |
T |
2: 79,473,815 (GRCm39) |
R189* |
probably null |
Het |
| Kap |
A |
G |
6: 133,828,763 (GRCm39) |
|
probably benign |
Het |
| Kmt2a |
G |
T |
9: 44,759,689 (GRCm39) |
T720N |
probably damaging |
Het |
| Lrrtm4 |
T |
C |
6: 79,999,071 (GRCm39) |
I161T |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,831,466 (GRCm39) |
L1630* |
probably null |
Het |
| Med13l |
A |
G |
5: 118,885,510 (GRCm39) |
S1488G |
probably benign |
Het |
| Mlxip |
A |
G |
5: 123,578,124 (GRCm39) |
K147E |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,558,899 (GRCm39) |
E810G |
possibly damaging |
Het |
| Or2d4 |
A |
G |
7: 106,544,125 (GRCm39) |
F28L |
possibly damaging |
Het |
| Or56a5 |
G |
A |
7: 104,793,473 (GRCm39) |
S15F |
probably benign |
Het |
| Or5p54 |
T |
C |
7: 107,554,688 (GRCm39) |
V280A |
possibly damaging |
Het |
| Pcare |
A |
G |
17: 72,057,266 (GRCm39) |
S804P |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,144,609 (GRCm39) |
|
probably benign |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Serpina3j |
G |
A |
12: 104,285,960 (GRCm39) |
A372T |
possibly damaging |
Het |
| Slc28a3 |
G |
A |
13: 58,722,063 (GRCm39) |
Q274* |
probably null |
Het |
| Stk36 |
T |
C |
1: 74,662,511 (GRCm39) |
F543S |
possibly damaging |
Het |
| Tfrc |
T |
C |
16: 32,448,930 (GRCm39) |
S690P |
probably damaging |
Het |
| Tg |
C |
A |
15: 66,555,647 (GRCm39) |
Q780K |
probably damaging |
Het |
| Top1 |
T |
A |
2: 160,557,653 (GRCm39) |
H578Q |
probably damaging |
Het |
| Treh |
A |
G |
9: 44,596,634 (GRCm39) |
T463A |
possibly damaging |
Het |
| Treml1 |
G |
A |
17: 48,673,016 (GRCm39) |
|
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,753,568 (GRCm39) |
V1312A |
probably benign |
Het |
| Ttc41 |
T |
A |
10: 86,612,683 (GRCm39) |
*1319K |
probably null |
Het |
| Ugt2b35 |
T |
C |
5: 87,155,254 (GRCm39) |
L363P |
probably damaging |
Het |
| Usp13 |
A |
T |
3: 32,956,218 (GRCm39) |
M496L |
probably benign |
Het |
| Virma |
T |
C |
4: 11,527,669 (GRCm39) |
S1187P |
possibly damaging |
Het |
| Wdr76 |
T |
A |
2: 121,372,951 (GRCm39) |
C593S |
probably damaging |
Het |
| Zfp446 |
G |
A |
7: 12,713,252 (GRCm39) |
A97T |
probably damaging |
Het |
|
| Other mutations in Tulp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00093:Tulp2
|
APN |
7 |
45,171,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00942:Tulp2
|
APN |
7 |
45,165,692 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01881:Tulp2
|
APN |
7 |
45,170,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03240:Tulp2
|
APN |
7 |
45,171,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03353:Tulp2
|
APN |
7 |
45,165,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0063:Tulp2
|
UTSW |
7 |
45,170,284 (GRCm39) |
unclassified |
probably benign |
|
|
R0063:Tulp2
|
UTSW |
7 |
45,170,284 (GRCm39) |
unclassified |
probably benign |
|
|
R0306:Tulp2
|
UTSW |
7 |
45,168,000 (GRCm39) |
unclassified |
probably benign |
|
|
R0648:Tulp2
|
UTSW |
7 |
45,169,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0710:Tulp2
|
UTSW |
7 |
45,170,232 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1168:Tulp2
|
UTSW |
7 |
45,167,266 (GRCm39) |
missense |
probably benign |
|
|
R1345:Tulp2
|
UTSW |
7 |
45,168,145 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1737:Tulp2
|
UTSW |
7 |
45,169,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1854:Tulp2
|
UTSW |
7 |
45,167,367 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1918:Tulp2
|
UTSW |
7 |
45,167,365 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2356:Tulp2
|
UTSW |
7 |
45,168,052 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3012:Tulp2
|
UTSW |
7 |
45,168,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3419:Tulp2
|
UTSW |
7 |
45,168,176 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4236:Tulp2
|
UTSW |
7 |
45,171,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4701:Tulp2
|
UTSW |
7 |
45,167,348 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5367:Tulp2
|
UTSW |
7 |
45,166,075 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6056:Tulp2
|
UTSW |
7 |
45,139,797 (GRCm39) |
splice site |
probably null |
|
|
R6294:Tulp2
|
UTSW |
7 |
45,164,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6432:Tulp2
|
UTSW |
7 |
45,168,012 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6875:Tulp2
|
UTSW |
7 |
45,168,038 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7459:Tulp2
|
UTSW |
7 |
45,169,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7556:Tulp2
|
UTSW |
7 |
45,168,005 (GRCm39) |
splice site |
probably null |
|
|
R7676:Tulp2
|
UTSW |
7 |
45,170,451 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7883:Tulp2
|
UTSW |
7 |
45,166,188 (GRCm39) |
splice site |
probably null |
|
|
R8775:Tulp2
|
UTSW |
7 |
45,164,914 (GRCm39) |
missense |
probably benign |
|
|
R8775-TAIL:Tulp2
|
UTSW |
7 |
45,164,914 (GRCm39) |
missense |
probably benign |
|
|
R8804:Tulp2
|
UTSW |
7 |
45,170,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Tulp2
|
UTSW |
7 |
45,171,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation