Incidental Mutation 'IGL00942:Tulp2'
| ID |
27846 |
| 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: 0.095)
|
| Stock # |
IGL00942
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45131450-45173070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 45165692 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 97
(V97I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103391
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024233]
[ENSMUST00000085331]
[ENSMUST00000107758]
[ENSMUST00000107759]
[ENSMUST00000107762]
[ENSMUST00000209763]
[ENSMUST00000210299]
[ENSMUST00000210813]
[ENSMUST00000210868]
[ENSMUST00000210532]
|
| AlphaFold |
P46686 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024233
AA Change: V97I
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000024233
Gene: ENSMUSG00000023467
AA Change: V97I
| 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: ENSMUST00000085331
|
| SMART Domains |
Protein: ENSMUSP00000082438
Gene: ENSMUSG00000023467
| 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 benign
Transcript: ENSMUST00000107758
|
| SMART Domains |
Protein: ENSMUSP00000103387
Gene: ENSMUSG00000023467
| 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 benign
Transcript: ENSMUST00000107759
|
| SMART Domains |
Protein: ENSMUSP00000103388
Gene: ENSMUSG00000023467
| 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: V97I
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103391
Gene: ENSMUSG00000023467
AA Change: V97I
| 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 |
noncoding transcript
Transcript: ENSMUST00000209472
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209763
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210299
AA Change: V41I
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210813
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210868
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210532
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211413
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
A |
C |
5: 62,855,732 (GRCm39) |
L568* |
probably null |
Het |
| Arfgef2 |
G |
A |
2: 166,727,773 (GRCm39) |
V1574M |
probably damaging |
Het |
| Arhgef12 |
C |
T |
9: 42,893,296 (GRCm39) |
R969H |
probably damaging |
Het |
| Cacng1 |
A |
T |
11: 107,595,195 (GRCm39) |
F127L |
probably benign |
Het |
| Cntnap5c |
T |
C |
17: 58,076,593 (GRCm39) |
V10A |
probably benign |
Het |
| Crtac1 |
T |
G |
19: 42,312,233 (GRCm39) |
D160A |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,710,502 (GRCm39) |
|
probably null |
Het |
| Grin3a |
A |
G |
4: 49,770,589 (GRCm39) |
F728L |
probably damaging |
Het |
| H3c1 |
T |
C |
13: 23,945,921 (GRCm39) |
|
probably benign |
Het |
| Hecw1 |
C |
T |
13: 14,515,325 (GRCm39) |
|
probably benign |
Het |
| Iyd |
C |
T |
10: 3,554,070 (GRCm38) |
C239F |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,000,923 (GRCm39) |
V486A |
probably damaging |
Het |
| Map3k7 |
A |
G |
4: 32,019,539 (GRCm39) |
D533G |
probably damaging |
Het |
| Matk |
A |
G |
10: 81,094,128 (GRCm39) |
D20G |
probably benign |
Het |
| Mphosph10 |
A |
G |
7: 64,039,503 (GRCm39) |
S156P |
probably benign |
Het |
| Mtif2 |
G |
A |
11: 29,488,753 (GRCm39) |
E356K |
probably damaging |
Het |
| Ndufb10 |
T |
C |
17: 24,943,158 (GRCm39) |
|
probably null |
Het |
| Nipal3 |
A |
T |
4: 135,195,904 (GRCm39) |
L233Q |
possibly damaging |
Het |
| Or7e169 |
T |
C |
9: 19,757,555 (GRCm39) |
Y120C |
probably damaging |
Het |
| Prss32 |
T |
A |
17: 24,078,134 (GRCm39) |
C273* |
probably null |
Het |
| Prtg |
T |
C |
9: 72,799,622 (GRCm39) |
S807P |
possibly damaging |
Het |
| Ric3 |
T |
G |
7: 108,653,619 (GRCm39) |
E157D |
probably damaging |
Het |
| Ric3 |
T |
A |
7: 108,653,620 (GRCm39) |
E157V |
probably damaging |
Het |
| Slc16a14 |
G |
A |
1: 84,900,592 (GRCm39) |
T131I |
probably damaging |
Het |
| Slc1a2 |
A |
T |
2: 102,570,159 (GRCm39) |
N137Y |
probably damaging |
Het |
| Slc25a27 |
T |
C |
17: 43,974,980 (GRCm39) |
I94V |
probably benign |
Het |
| Slco1a1 |
G |
A |
6: 141,892,354 (GRCm39) |
T4I |
probably benign |
Het |
| Slf1 |
A |
T |
13: 77,192,066 (GRCm39) |
F923I |
possibly damaging |
Het |
| Taf7l2 |
A |
G |
10: 115,949,341 (GRCm39) |
S62P |
possibly damaging |
Het |
| Ttll12 |
A |
C |
15: 83,466,649 (GRCm39) |
V306G |
possibly damaging |
Het |
| Vmn2r65 |
T |
G |
7: 84,592,761 (GRCm39) |
Q482P |
probably damaging |
Het |
| Wdr24 |
T |
A |
17: 26,045,595 (GRCm39) |
N443K |
probably benign |
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 |
|
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 |
2013-04-17 |
Incidental Mutation