Incidental Mutation 'R3012:Tulp2'
ID |
257532 |
Institutional Source |
Beutler Lab
|
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 # |
R3012 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
45131450-45173070 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 45168187 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 188
(V188L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082438
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024233]
[ENSMUST00000042105]
[ENSMUST00000085331]
[ENSMUST00000107758]
[ENSMUST00000107759]
[ENSMUST00000107762]
[ENSMUST00000210868]
[ENSMUST00000210813]
[ENSMUST00000210532]
[ENSMUST00000209763]
[ENSMUST00000210299]
[ENSMUST00000211212]
[ENSMUST00000167273]
|
AlphaFold |
P46686 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024233
AA Change: V312L
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000024233 Gene: ENSMUSG00000023467 AA Change: V312L
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 damaging
Transcript: ENSMUST00000085331
AA Change: V188L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000082438 Gene: ENSMUSG00000023467 AA Change: V188L
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: V200L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103387 Gene: ENSMUSG00000023467 AA Change: V200L
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
AA Change: V200L
PolyPhen 2
Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000103388 Gene: ENSMUSG00000023467 AA Change: V200L
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: ENSMUST00000107760
AA Change: V200L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103389 Gene: ENSMUSG00000023467 AA Change: V200L
Domain | Start | End | E-Value | Type |
low complexity region
|
100 |
108 |
N/A |
INTRINSIC |
Pfam:Tub
|
203 |
451 |
1.5e-115 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107761
AA Change: V200L
PolyPhen 2
Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000103390 Gene: ENSMUSG00000023467 AA Change: V200L
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: V312L
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103391 Gene: ENSMUSG00000023467 AA Change: V312L
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: ENSMUST00000210868
AA Change: V200L
PolyPhen 2
Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000210813
AA Change: V200L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210532
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209763
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210299
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211413
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211212
|
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 |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh18a1 |
G |
T |
19: 40,546,135 (GRCm39) |
Y585* |
probably null |
Het |
Ankrd17 |
G |
A |
5: 90,378,727 (GRCm39) |
P2563S |
probably damaging |
Het |
Atg10 |
A |
T |
13: 91,302,397 (GRCm39) |
F47Y |
probably damaging |
Het |
Ccdc39 |
C |
T |
3: 33,868,817 (GRCm39) |
R798Q |
probably damaging |
Het |
Cfi |
A |
G |
3: 129,668,579 (GRCm39) |
D535G |
probably damaging |
Het |
Dennd11 |
T |
C |
6: 40,412,926 (GRCm39) |
E45G |
probably benign |
Het |
Dgat1 |
T |
A |
15: 76,387,593 (GRCm39) |
Q308H |
possibly damaging |
Het |
Dsp |
T |
C |
13: 38,377,318 (GRCm39) |
I1701T |
possibly damaging |
Het |
Egr2 |
GAA |
GA |
10: 67,375,733 (GRCm39) |
|
probably null |
Het |
Fes |
G |
C |
7: 80,036,915 (GRCm39) |
S56R |
possibly damaging |
Het |
Gria1 |
G |
A |
11: 57,180,260 (GRCm39) |
V737M |
probably damaging |
Het |
Gtf2h1 |
A |
G |
7: 46,453,319 (GRCm39) |
H84R |
probably damaging |
Het |
Ifi208 |
A |
G |
1: 173,523,136 (GRCm39) |
|
probably null |
Het |
Il15 |
T |
A |
8: 83,071,049 (GRCm39) |
N22I |
probably damaging |
Het |
Me1 |
A |
G |
9: 86,493,965 (GRCm39) |
S323P |
probably benign |
Het |
Or10a5 |
T |
C |
7: 106,635,569 (GRCm39) |
F69S |
possibly damaging |
Het |
Parp4 |
T |
C |
14: 56,832,873 (GRCm39) |
|
probably null |
Het |
Pcdhga7 |
A |
G |
18: 37,848,691 (GRCm39) |
T233A |
probably benign |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Rpe65 |
G |
T |
3: 159,310,200 (GRCm39) |
V128F |
possibly damaging |
Het |
Slc5a11 |
GGTGC |
G |
7: 122,838,595 (GRCm39) |
|
probably null |
Het |
Tbc1d32 |
A |
G |
10: 56,050,011 (GRCm39) |
V509A |
probably benign |
Het |
Tln1 |
T |
A |
4: 43,542,525 (GRCm39) |
T1428S |
probably benign |
Het |
Ttc27 |
A |
T |
17: 75,147,454 (GRCm39) |
I669F |
probably benign |
Het |
Tubb3 |
T |
G |
8: 124,147,975 (GRCm39) |
C303G |
probably damaging |
Het |
Zfr |
T |
C |
15: 12,166,249 (GRCm39) |
Y840H |
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 |
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 |
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'- GCACTTGAATTAGGATGAAGACCG -3'
(R):5'- AGCCATCTTCCTACGATTTGG -3'
Sequencing Primer
(F):5'- TGAATTAGGATGAAGACCGGGAGAAG -3'
(R):5'- CCATCTTCCTACGATTTGGGGTTTG -3'
|
Posted On |
2015-01-11 |