Incidental Mutation 'IGL00093:Tulp2'
| ID |
1492 |
| 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 # |
IGL00093
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45131450-45173070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45171332 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 371
(N371S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024233]
[ENSMUST00000042105]
[ENSMUST00000051810]
[ENSMUST00000085331]
[ENSMUST00000107758]
[ENSMUST00000107759]
[ENSMUST00000107762]
[ENSMUST00000210868]
[ENSMUST00000210813]
[ENSMUST00000211212]
[ENSMUST00000211227]
[ENSMUST00000210299]
[ENSMUST00000167273]
|
| AlphaFold |
P46686 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024233
AA Change: N483S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000024233
Gene: ENSMUSG00000023467
AA Change: N483S
| 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: N359S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000082438
Gene: ENSMUSG00000023467
AA Change: N359S
| 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: N378S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103387
Gene: ENSMUSG00000023467
AA Change: N378S
| 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: N371S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103388
Gene: ENSMUSG00000023467
AA Change: N371S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
100 |
108 |
N/A |
INTRINSIC |
|
Pfam:Tub
|
203 |
444 |
3.4e-117 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107762
AA Change: N483S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103391
Gene: ENSMUSG00000023467
AA Change: N483S
| 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: ENSMUST00000210868
AA Change: N371S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210813
AA Change: N378S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211212
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211227
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210299
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510009E07Rik |
T |
C |
16: 21,472,310 (GRCm39) |
D60G |
probably damaging |
Het |
| Abca2 |
T |
A |
2: 25,335,975 (GRCm39) |
|
probably null |
Het |
| Adamts14 |
C |
T |
10: 61,065,455 (GRCm39) |
R348H |
probably damaging |
Het |
| Aimp2 |
A |
T |
5: 143,843,524 (GRCm39) |
I22N |
probably damaging |
Het |
| Cacna1c |
A |
G |
6: 118,653,405 (GRCm39) |
|
probably benign |
Het |
| Cfap221 |
A |
T |
1: 119,860,575 (GRCm39) |
Y684N |
possibly damaging |
Het |
| Cfap300 |
A |
G |
9: 8,022,433 (GRCm39) |
V263A |
probably benign |
Het |
| Cldn6 |
T |
A |
17: 23,900,698 (GRCm39) |
|
probably benign |
Het |
| Copb2 |
A |
G |
9: 98,450,130 (GRCm39) |
M30V |
probably benign |
Het |
| Dcaf17 |
G |
A |
2: 70,908,503 (GRCm39) |
E243K |
probably benign |
Het |
| Dhx35 |
T |
C |
2: 158,669,836 (GRCm39) |
Y257H |
probably damaging |
Het |
| Dnai3 |
C |
T |
3: 145,788,759 (GRCm39) |
G274E |
probably benign |
Het |
| Dzank1 |
A |
T |
2: 144,323,645 (GRCm39) |
Y600* |
probably null |
Het |
| Flvcr1 |
T |
A |
1: 190,747,686 (GRCm39) |
R201* |
probably null |
Het |
| Fstl4 |
G |
A |
11: 53,077,102 (GRCm39) |
V620I |
probably benign |
Het |
| Gm21976 |
G |
A |
13: 98,439,069 (GRCm39) |
V20M |
probably benign |
Het |
| Ifi208 |
T |
C |
1: 173,506,604 (GRCm39) |
|
probably null |
Het |
| Kdm4c |
T |
C |
4: 74,263,738 (GRCm39) |
V674A |
probably benign |
Het |
| Lig1 |
T |
A |
7: 13,035,378 (GRCm39) |
Y612* |
probably null |
Het |
| Marco |
A |
G |
1: 120,413,432 (GRCm39) |
V295A |
probably benign |
Het |
| Myo5c |
T |
C |
9: 75,150,162 (GRCm39) |
|
probably benign |
Het |
| Or1e34 |
A |
G |
11: 73,779,075 (GRCm39) |
L41P |
probably damaging |
Het |
| Or51a42 |
T |
C |
7: 103,708,623 (GRCm39) |
Y62C |
probably damaging |
Het |
| Or6c217 |
T |
A |
10: 129,738,528 (GRCm39) |
D17V |
possibly damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,911,971 (GRCm39) |
M245T |
unknown |
Het |
| Pomt1 |
A |
G |
2: 32,131,784 (GRCm39) |
I158V |
probably benign |
Het |
| Ptpn21 |
A |
G |
12: 98,646,727 (GRCm39) |
W967R |
probably damaging |
Het |
| Rrp12 |
A |
T |
19: 41,875,533 (GRCm39) |
M270K |
possibly damaging |
Het |
| Spats2 |
A |
G |
15: 99,078,474 (GRCm39) |
E179G |
possibly damaging |
Het |
| Tapbp |
T |
C |
17: 34,138,866 (GRCm39) |
V11A |
probably benign |
Het |
| Tasor |
T |
G |
14: 27,170,163 (GRCm39) |
L364R |
probably damaging |
Het |
| Tonsl |
A |
G |
15: 76,522,696 (GRCm39) |
F185S |
possibly damaging |
Het |
| Trpm1 |
A |
G |
7: 63,893,198 (GRCm39) |
I901V |
probably damaging |
Het |
| Unc5d |
A |
T |
8: 29,209,854 (GRCm39) |
V433D |
probably damaging |
Het |
| Wasf3 |
G |
A |
5: 146,392,461 (GRCm39) |
R177Q |
probably damaging |
Het |
| Zfp715 |
A |
T |
7: 42,949,173 (GRCm39) |
H262Q |
possibly damaging |
Het |
| Zftraf1 |
A |
G |
15: 76,530,738 (GRCm39) |
I194T |
probably damaging |
Het |
|
| Other mutations in Tulp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2011-07-12 |
Incidental Mutation