Incidental Mutation 'R0710:Tulp2'
| ID |
62699 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tulp2
|
| Ensembl Gene |
ENSMUSG00000023467 |
| Gene Name |
tubby-like protein 2 |
| Synonyms |
|
| MMRRC Submission |
038893-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R0710 (G1)
|
| Quality Score |
195 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
45131450-45173070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 45170232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 301
(V301D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024233]
[ENSMUST00000042105]
[ENSMUST00000085331]
[ENSMUST00000107758]
[ENSMUST00000107759]
[ENSMUST00000107762]
[ENSMUST00000167273]
[ENSMUST00000210813]
[ENSMUST00000210868]
[ENSMUST00000211212]
[ENSMUST00000209763]
[ENSMUST00000210299]
[ENSMUST00000210532]
|
| AlphaFold |
P46686 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024233
AA Change: V413D
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000024233
Gene: ENSMUSG00000023467
AA Change: V413D
| 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 |
possibly damaging
Transcript: ENSMUST00000085331
AA Change: V289D
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000082438
Gene: ENSMUSG00000023467
AA Change: V289D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
88 |
96 |
N/A |
INTRINSIC |
|
Pfam:Tub
|
191 |
432 |
6.2e-117 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107758
AA Change: V308D
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103387
Gene: ENSMUSG00000023467
AA Change: V308D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
100 |
108 |
N/A |
INTRINSIC |
|
Pfam:Tub
|
203 |
451 |
4.1e-85 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107759
AA Change: V301D
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103388
Gene: ENSMUSG00000023467
AA Change: V301D
| 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: V413D
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103391
Gene: ENSMUSG00000023467
AA Change: V413D
| 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 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 |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210813
AA Change: V308D
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210868
AA Change: V301D
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211212
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211413
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209763
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210299
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210532
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Celsr2 |
A |
G |
3: 108,320,028 (GRCm39) |
V928A |
probably benign |
Het |
| Farp1 |
C |
T |
14: 121,474,555 (GRCm39) |
T256M |
probably damaging |
Het |
| Fbxl3 |
G |
T |
14: 103,326,751 (GRCm39) |
H162Q |
probably damaging |
Het |
| Glra3 |
C |
T |
8: 56,578,399 (GRCm39) |
|
probably benign |
Het |
| Gpatch8 |
A |
G |
11: 102,372,759 (GRCm39) |
S260P |
unknown |
Het |
| Hectd4 |
G |
A |
5: 121,474,691 (GRCm39) |
V2771I |
probably benign |
Het |
| Hgf |
C |
A |
5: 16,771,761 (GRCm39) |
C129* |
probably null |
Het |
| Hmg20a |
G |
A |
9: 56,381,954 (GRCm39) |
D77N |
possibly damaging |
Het |
| Iqch |
A |
T |
9: 63,432,418 (GRCm39) |
S287T |
probably benign |
Het |
| Kcnj11 |
T |
C |
7: 45,748,549 (GRCm39) |
Y258C |
probably benign |
Het |
| Kif1c |
A |
G |
11: 70,617,323 (GRCm39) |
T874A |
probably benign |
Het |
| Mlc1 |
G |
T |
15: 88,862,067 (GRCm39) |
Q50K |
possibly damaging |
Het |
| Mtor |
T |
C |
4: 148,548,848 (GRCm39) |
S544P |
possibly damaging |
Het |
| Mypop |
A |
T |
7: 18,734,485 (GRCm39) |
|
probably null |
Het |
| Poli |
A |
T |
18: 70,655,961 (GRCm39) |
|
probably null |
Het |
| Rasa3 |
C |
A |
8: 13,633,830 (GRCm39) |
V478L |
probably damaging |
Het |
| Scn3a |
A |
T |
2: 65,299,390 (GRCm39) |
M1372K |
probably damaging |
Het |
| Sinhcaf |
A |
G |
6: 148,834,498 (GRCm39) |
|
probably null |
Het |
| Sis |
T |
C |
3: 72,859,864 (GRCm39) |
Q297R |
probably damaging |
Het |
| Tnpo3 |
T |
C |
6: 29,586,074 (GRCm39) |
D172G |
possibly damaging |
Het |
| Ubr2 |
G |
A |
17: 47,249,607 (GRCm39) |
R1582W |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,783,181 (GRCm39) |
S706P |
probably damaging |
Het |
| Vmn1r171 |
C |
A |
7: 23,332,426 (GRCm39) |
S205Y |
probably damaging |
Het |
| Wnk4 |
G |
A |
11: 101,164,932 (GRCm39) |
A754T |
probably benign |
Het |
| Zfp282 |
C |
T |
6: 47,857,318 (GRCm39) |
R184W |
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 |
|
IGL03242:Tulp2
|
APN |
7 |
45,171,282 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACGTGGGCTAGGATAACTCACC -3'
(R):5'- CCCTGAATCCCAAGACATTGGTCTC -3'
Sequencing Primer
(F):5'- agccatctcaccagccc -3'
(R):5'- ACATTGGTCTCCTGGCAAGATAG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation