Incidental Mutation 'R1345:Tulp2'
| ID |
156460 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tulp2
|
| Ensembl Gene |
ENSMUSG00000023467 |
| Gene Name |
tubby-like protein 2 |
| Synonyms |
|
| MMRRC Submission |
039410-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R1345 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
45131450-45173070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 45168145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 298
(R298S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103391
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024233]
[ENSMUST00000042105]
[ENSMUST00000085331]
[ENSMUST00000107758]
[ENSMUST00000107759]
[ENSMUST00000107762]
[ENSMUST00000167273]
[ENSMUST00000210868]
[ENSMUST00000210813]
[ENSMUST00000210532]
[ENSMUST00000209763]
[ENSMUST00000210299]
[ENSMUST00000211212]
|
| AlphaFold |
P46686 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024233
AA Change: R298S
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000024233
Gene: ENSMUSG00000023467
AA Change: R298S
| 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: ENSMUST00000085331
AA Change: R174S
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000082438
Gene: ENSMUSG00000023467
AA Change: R174S
| 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
AA Change: R186S
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000103387
Gene: ENSMUSG00000023467
AA Change: R186S
| 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: R186S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000103388
Gene: ENSMUSG00000023467
AA Change: R186S
| 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 benign
Transcript: ENSMUST00000107762
AA Change: R298S
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000103391
Gene: ENSMUSG00000023467
AA Change: R298S
| 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 |
probably benign
Transcript: ENSMUST00000210868
AA Change: R186S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210813
AA Change: R186S
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| 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
|
| Meta Mutation Damage Score |
0.0938 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 92.3%
|
| Validation Efficiency |
100% (45/45) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001K19Rik |
C |
T |
12: 110,635,152 (GRCm39) |
V129I |
probably damaging |
Het |
| Akr1c18 |
T |
C |
13: 4,195,213 (GRCm39) |
T82A |
possibly damaging |
Het |
| Alx1 |
A |
G |
10: 102,864,353 (GRCm39) |
S39P |
possibly damaging |
Het |
| Atr |
A |
G |
9: 95,802,408 (GRCm39) |
T1767A |
probably benign |
Het |
| Brf1 |
A |
T |
12: 112,924,728 (GRCm39) |
|
probably null |
Het |
| Cd86 |
A |
G |
16: 36,438,686 (GRCm39) |
|
probably null |
Het |
| Cdan1 |
A |
G |
2: 120,549,620 (GRCm39) |
|
probably null |
Het |
| Cntln |
A |
G |
4: 84,892,228 (GRCm39) |
D371G |
probably damaging |
Het |
| Cypt4 |
A |
G |
9: 24,536,515 (GRCm39) |
T2A |
possibly damaging |
Het |
| Dll1 |
G |
T |
17: 15,593,817 (GRCm39) |
Y183* |
probably null |
Het |
| Dnmt1 |
G |
T |
9: 20,819,814 (GRCm39) |
P1444Q |
probably damaging |
Het |
| Ern2 |
A |
G |
7: 121,776,993 (GRCm39) |
L309P |
probably damaging |
Het |
| Fam151a |
A |
G |
4: 106,599,491 (GRCm39) |
K142E |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,156,591 (GRCm39) |
E2378G |
probably damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Kdm5b |
A |
C |
1: 134,558,288 (GRCm39) |
T1432P |
possibly damaging |
Het |
| Kif2a |
G |
A |
13: 107,130,423 (GRCm39) |
S15F |
probably damaging |
Het |
| Lzic |
A |
G |
4: 149,571,308 (GRCm39) |
E31G |
probably damaging |
Het |
| Mmp16 |
A |
G |
4: 18,112,021 (GRCm39) |
M466V |
probably benign |
Het |
| Mtm1 |
T |
C |
X: 70,330,837 (GRCm39) |
V203A |
probably benign |
Het |
| Muc21 |
T |
A |
17: 35,932,489 (GRCm39) |
|
probably benign |
Het |
| Neurl4 |
A |
G |
11: 69,794,702 (GRCm39) |
M249V |
probably benign |
Het |
| Or6c76b |
T |
C |
10: 129,692,759 (GRCm39) |
I124T |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,326,794 (GRCm39) |
Y243H |
probably damaging |
Het |
| Rbm44 |
A |
G |
1: 91,080,481 (GRCm39) |
N223S |
probably damaging |
Het |
| Sel1l3 |
G |
T |
5: 53,357,559 (GRCm39) |
H144Q |
possibly damaging |
Het |
| Simc1 |
A |
ANNNNNNNNNNNNNNNNNNNNN |
13: 54,673,060 (GRCm39) |
|
probably benign |
Het |
| Snrpb2 |
A |
G |
2: 142,907,086 (GRCm39) |
|
probably benign |
Het |
| Spata31d1d |
T |
G |
13: 59,873,838 (GRCm39) |
K1232N |
possibly damaging |
Het |
| Spink5 |
A |
T |
18: 44,123,749 (GRCm39) |
E345D |
possibly damaging |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Tarbp1 |
T |
C |
8: 127,175,069 (GRCm39) |
D789G |
probably benign |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tmem232 |
T |
C |
17: 65,757,401 (GRCm39) |
N264S |
possibly damaging |
Het |
| Trim43b |
G |
C |
9: 88,967,725 (GRCm39) |
L303V |
possibly damaging |
Het |
| Usp42 |
A |
G |
5: 143,703,088 (GRCm39) |
V511A |
probably damaging |
Het |
| Vav1 |
A |
T |
17: 57,608,214 (GRCm39) |
T321S |
probably benign |
Het |
| Vmn1r169 |
A |
C |
7: 23,277,247 (GRCm39) |
H213P |
probably damaging |
Het |
| Vmn1r170 |
C |
T |
7: 23,305,787 (GRCm39) |
T63I |
probably benign |
Het |
| Vmn2r103 |
T |
G |
17: 20,014,509 (GRCm39) |
W434G |
probably damaging |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
| Zfp7 |
T |
C |
15: 76,774,908 (GRCm39) |
S317P |
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 |
|
|
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'- TCCCTGACCTGGAATAGCCAACTG -3'
(R):5'- TGTCCAAGAGGAGCCATCTTCCTAC -3'
Sequencing Primer
(F):5'- TGGCCCACAAGGCCAAG -3'
(R):5'- AGGAGCCATCTTCCTACGATTTG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation